#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
TAS1R3	83756	broad.mit.edu	37	1	1268139	1268139	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:1268139T>A	ENST00000339381.5	+	3	1260	c.1228T>A	c.(1228-1230)Tgc>Agc	p.C410S		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	410					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.C410S(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CACTCTTCAGTGCAACGCCTC	0.642																																							uc010nyk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1228-1230)TGC>AGC		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						28.0	28.0	28.0					1																	1268139		2198	4299	6497	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268139T>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1228T>A	1.37:g.1268139T>A	ENSP00000344411:p.Cys410Ser						p.C410S	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	1228	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	410			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1228T>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.683913	0.47991	.	.	ENSG00000169962	ENST00000339381	D	0.82711	-1.64	4.74	4.74	0.60224	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	M	0.85299	2.745	0.45295	D	0.998299	D	0.89917	1.0	D	0.97110	1.0	D	0.92878	0.6320	10	0.87932	D	0	.	14.228	0.65873	0.0:0.0:0.0:1.0	.	410	Q7RTX0	TS1R3_HUMAN	S	410	ENSP00000344411:C410S	ENSP00000344411:C410S	C	+	1	0	TAS1R3	1258002	1.000000	0.71417	0.059000	0.19551	0.016000	0.09150	5.964000	0.70379	1.776000	0.52262	0.459000	0.35465	TGC		0.642	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			3	30	0	0	0	0.009096	0	3	30				
ATAD3C	219293	broad.mit.edu	37	1	1387814	1387814	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:1387814G>T	ENST00000378785.2	+	3	1217	c.222G>T	c.(220-222)acG>acT	p.T74T		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	74							ATP binding (GO:0005524)	p.T74T(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGACAGCCACGGTAAACATAC	0.602																																							uc001aft.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)ACG>ACT		ATPase family, AAA domain containing 3C							137.0	117.0	123.0					1																	1387814		692	1591	2283	SO:0001630	splice_region_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1387814G>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.222+1G>T	1.37:g.1387814G>T							p.T74T	NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	1217	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	74					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.222G>T	CCDS44039.1																																																																																				0.602	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211	Silent	21	63	1	0	3.62473e-10	0.001882	5.25126e-10	21	63				
ATAD3B	83858	broad.mit.edu	37	1	1420477	1420477	+	Missense_Mutation	SNP	C	C	T	rs376567838		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:1420477C>T	ENST00000308647.7	+	8	948	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	278						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)	p.R278W(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCGAGGCTCGGCTGGGGAA	0.682													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16066	0.0		0.0	False		,,,				2504	0.0						uc001afv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(832-834)CGG>TGG		AAA-ATPase  TOB3		C	TRP/ARG	0,4348		0,0,2174	27.0	29.0	29.0		832	2.3	0.0	1		29	1,8493		0,1,4246	no	missense	ATAD3B	NM_031921.4	101	0,1,6420	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	278/649	1420477	1,12841	2174	4247	6421	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1420477C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.832C>T	1.37:g.1420477C>T	ENSP00000311766:p.Arg278Trp					ATAD3B_uc001afx.2_Missense_Mutation_p.R232W	p.R278W	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	933	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	278					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.832C>T	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	10.14	1.268441	0.23136	0.0	1.18E-4	ENSG00000160072	ENST00000360489;ENST00000378737;ENST00000308647	D	0.94576	-3.46	2.26	2.26	0.28386	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.122582	0.52532	D	0.000063	D	0.96555	0.8876	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.95660	0.8714	10	0.87932	D	0	.	7.6152	0.28154	0.2516:0.7484:0.0:0.0	.	232;278	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	W	172;93;278	ENSP00000311766:R278W	ENSP00000311766:R278W	R	+	1	2	ATAD3B	1410340	0.972000	0.33761	0.039000	0.18376	0.002000	0.02628	2.432000	0.44784	1.253000	0.44018	0.205000	0.17691	CGG		0.682	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		4	13	0	0	0	0.009096	0	4	13				
ACTRT2	140625	broad.mit.edu	37	1	2938660	2938660	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:2938660A>G	ENST00000378404.2	+	1	615	c.410A>G	c.(409-411)tAc>tGc	p.Y137C		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	137						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Y137C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCCGCTTTCTACCTGTCGGAC	0.627																																							uc001ajz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(409-411)TAC>TGC		actin-related protein M2							74.0	68.0	70.0					1																	2938660		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938660A>G	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.410A>G	1.37:g.2938660A>G	ENSP00000367658:p.Tyr137Cys						p.Y137C	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	615	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	137					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.410A>G	CCDS45.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751863	0.49362	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.95001	-3.58	4.85	4.85	0.62838	.	0.000000	0.51477	D	0.000096	D	0.97495	0.9180	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.98274	1.0505	10	0.87932	D	0	.	13.2622	0.60111	1.0:0.0:0.0:0.0	.	137	Q8TDY3	ACTT2_HUMAN	C	137	ENSP00000367658:Y137C	ENSP00000367658:Y137C	Y	+	2	0	ACTRT2	2928520	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.929000	0.70096	1.808000	0.52836	0.459000	0.35465	TAC		0.627	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		10	43	0	0	0	0.006214	0	10	43				
AJAP1	55966	broad.mit.edu	37	1	4772109	4772109	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:4772109C>T	ENST00000378191.4	+	2	560	c.179C>T	c.(178-180)cCg>cTg	p.P60L	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.P60L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	60					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P60L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ccgccccggccgccccggcTG	0.731																																							uc001alm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(178-180)CCG>CTG		adherens junction associated protein 1							19.0	29.0	25.0					1																	4772109		1975	3964	5939	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772109C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.179C>T	1.37:g.4772109C>T	ENSP00000367433:p.Pro60Leu					AJAP1_uc001aln.2_Missense_Mutation_p.P60L	p.P60L	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	560	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	60			Extracellular (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.179C>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831922	0.32421	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.41065	1.01;1.01	4.36	3.34	0.38264	.	0.731674	0.12846	N	0.434418	T	0.23054	0.0557	N	0.24115	0.695	0.20489	N	0.999891	P	0.34587	0.458	B	0.28709	0.093	T	0.05801	-1.0863	10	0.13108	T	0.6	-9.8556	8.7557	0.34643	0.2257:0.7743:0.0:0.0	.	60	Q9UKB5	AJAP1_HUMAN	L	60	ENSP00000367432:P60L;ENSP00000367433:P60L	ENSP00000367432:P60L	P	+	2	0	AJAP1	4671969	0.906000	0.30813	0.208000	0.23602	0.382000	0.30200	2.899000	0.48679	2.322000	0.78497	0.563000	0.77884	CCG		0.731	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		5	88	0	0	0	0.001168	0	5	88				
TAS1R1	80835	broad.mit.edu	37	1	6639186	6639186	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:6639186C>A	ENST00000333172.6	+	6	2261	c.2068C>A	c.(2068-2070)Cag>Aag	p.Q690K	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.Q436K|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	690					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.Q690K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTCAGCGGCCCAGCTGCTTAT	0.537																																							uc001ant.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2068-2070)CAG>AAG		sweet taste receptor T1r isoform b							113.0	112.0	112.0					1																	6639186		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639186C>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2068C>A	1.37:g.6639186C>A	ENSP00000331867:p.Gln690Lys					TAS1R1_uc001anu.2_Missense_Mutation_p.Q436K|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.Q690K	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2068	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	690			Helical; Name=4; (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2068C>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	6.737	0.504760	0.12822	.	.	ENSG00000173662	ENST00000333172;ENST00000351136	D;D	0.91011	-2.77;-2.77	5.37	5.37	0.77165	GPCR, family 3, C-terminal (2);	0.648102	0.14995	N	0.286495	D	0.91109	0.7201	L	0.60957	1.885	0.80722	D	1	P;P	0.46220	0.874;0.833	P;B	0.44946	0.465;0.42	D	0.91562	0.5265	10	0.62326	D	0.03	.	18.1264	0.89587	0.0:1.0:0.0:0.0	.	436;690	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	K	690;436	ENSP00000331867:Q690K;ENSP00000312558:Q436K	ENSP00000331867:Q690K	Q	+	1	0	TAS1R1	6561773	0.990000	0.36364	0.950000	0.38849	0.415000	0.31203	3.574000	0.53863	2.505000	0.84491	0.655000	0.94253	CAG		0.537	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			16	91	1	0	1.15088e-07	0.004007	1.5071e-07	16	91				
NMNAT1	64802	broad.mit.edu	37	1	10035810	10035810	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:10035810G>T	ENST00000377205.1	+	3	420	c.276G>T	c.(274-276)tgG>tgT	p.W92C	NMNAT1_ENST00000403197.1_Missense_Mutation_p.W92C	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	92					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.W92C(1)		large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAGGAGTGGAAAGAGACTC	0.413																																							uc001aqp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(274-276)TGG>TGT		nicotinamide mononucleotide adenylyltransferase							137.0	130.0	132.0					1																	10035810		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10035810G>T	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.276G>T	1.37:g.10035810G>T	ENSP00000366410:p.Trp92Cys						p.W92C	NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	3	420	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	92					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.276G>T	CCDS108.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059629	0.76074	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97772	-4.53;-4.53	4.93	4.93	0.64822	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.299526	0.36234	N	0.002718	D	0.98795	0.9594	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	D	0.99768	1.1023	10	0.72032	D	0.01	-1.2739	18.5302	0.90989	0.0:0.0:1.0:0.0	.	92	Q9HAN9	NMNA1_HUMAN	C	92	ENSP00000385131:W92C;ENSP00000366410:W92C	ENSP00000366410:W92C	W	+	3	0	NMNAT1	9958397	1.000000	0.71417	0.922000	0.36590	0.755000	0.42902	9.763000	0.98947	2.439000	0.82584	0.643000	0.83706	TGG		0.413	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			18	89	1	0	5.26018e-13	0.001882	8.14138e-13	18	89				
KIF1B	23095	broad.mit.edu	37	1	10394657	10394657	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:10394657G>A	ENST00000377086.1	+	28	3206	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	KIF1B_ENST00000263934.6_Missense_Mutation_p.V956M|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1002M			O60333	KIF1B_HUMAN	kinesin family member 1B	1002					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.V956M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAAAGGTGAAGTGCGGGGATT	0.522																																							uc001aqx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3004-3006)GTG>ATG		kinesin family member 1B isoform b							209.0	187.0	194.0					1																	10394657		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10394657G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3004G>A	1.37:g.10394657G>A	ENSP00000366290:p.Val1002Met					KIF1B_uc001aqw.3_Missense_Mutation_p.V956M|KIF1B_uc001aqy.2_Missense_Mutation_p.V976M|KIF1B_uc001aqz.2_Missense_Mutation_p.V1002M|KIF1B_uc001ara.2_Missense_Mutation_p.V962M|KIF1B_uc001arb.2_Missense_Mutation_p.V988M	p.V1002M	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	28	3206	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1002					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3004G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.395169	0.96009	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.80909	-1.43;-1.43;-1.43	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.994	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.956;0.991	D	0.88147	0.2848	10	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	988;962;1002;976;1002;956	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	M	1002;956;1002;1002	ENSP00000263934:V956M;ENSP00000366290:V1002M;ENSP00000366284:V1002M	ENSP00000263934:V956M	V	+	1	0	KIF1B	10317244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.798000	0.99111	2.854000	0.98071	0.655000	0.94253	GTG		0.522	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			34	92	0	0	0	0.002445	0	34	92				
VPS13D	55187	broad.mit.edu	37	1	12414217	12414217	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:12414217G>T	ENST00000358136.3	+	47	9748	c.9618G>T	c.(9616-9618)acG>acT	p.T3206T	VPS13D_ENST00000356315.4_Silent_p.T3181T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.T3206T(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTAATGGGACGCTGAAACCTG	0.433																																							uc001atv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(9616-9618)ACG>ACT		vacuolar protein sorting 13D isoform 1							89.0	90.0	90.0					1																	12414217		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12414217G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9618G>T	1.37:g.12414217G>T						VPS13D_uc001atw.2_Silent_p.T3181T|VPS13D_uc001atx.2_Silent_p.T2393T	p.T3206T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	47	9759	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3205						Silent	SNP	ENST00000358136.3	37	c.9618G>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560485	0.13498	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.86	-5.45	0.02616	.	.	.	.	.	T	0.45895	0.1365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44375	-0.9332	4	.	.	.	.	4.8611	0.13585	0.1674:0.5105:0.1119:0.2102	.	.	.	.	L	2028	.	.	R	+	2	0	VPS13D	12336804	0.000000	0.05858	0.632000	0.29296	0.871000	0.50021	-2.732000	0.00804	-1.062000	0.03181	-0.300000	0.09419	CGC		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		19	67	1	0	2.37509e-13	0.010504	3.70207e-13	19	67				
PADI2	11240	broad.mit.edu	37	1	17396687	17396687	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:17396687T>A	ENST00000375486.4	-	15	1723	c.1660A>T	c.(1660-1662)Atc>Ttc	p.I554F	PADI2_ENST00000444885.2_Missense_Mutation_p.I438F|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	554					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.I554F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTCTTGAGGATGTCACGGTTC	0.587																																							uc001baf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1660-1662)ATC>TTC		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						166.0	152.0	156.0					1																	17396687		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17396687T>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1660A>T	1.37:g.17396687T>A	ENSP00000364635:p.Ile554Phe					PADI2_uc010ocm.1_Missense_Mutation_p.I438F	p.I554F	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	15	1742	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	554					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.1660A>T	CCDS177.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937436	0.73557	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.26957	1.7;1.7	4.74	1.03	0.20045	Protein-arginine deiminase, C-terminal (1);	0.059343	0.64402	D	0.000001	T	0.33702	0.0872	M	0.73430	2.235	0.47737	D	0.999509	P;P	0.51240	0.943;0.845	P;P	0.51324	0.666;0.607	T	0.08086	-1.0739	10	0.87932	D	0	-31.4511	5.0519	0.14513	0.0:0.1596:0.2905:0.5499	.	438;554	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	F	554;438	ENSP00000364635:I554F;ENSP00000405894:I438F	ENSP00000364635:I554F	I	-	1	0	PADI2	17269274	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	2.817000	0.48034	0.067000	0.16545	0.460000	0.39030	ATC		0.587	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			32	113	0	0	0	0.00874	0	32	113				
PADI4	23569	broad.mit.edu	37	1	17674519	17674519	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:17674519G>A	ENST00000375448.4	+	10	1157	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	377					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.K377K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGGCCTGAAGGAGTTTCCCA	0.567																																							uc001baj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1129-1131)AAG>AAA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						101.0	90.0	93.0					1																	17674519		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17674519G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1131G>A	1.37:g.17674519G>A						PADI4_uc009vpc.2_Silent_p.K377K	p.K377K	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	10	1159	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	377					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.1131G>A	CCDS180.1																																																																																				0.567	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		5	30	0	0	0	0.001168	0	5	30				
UBR4	23352	broad.mit.edu	37	1	19478261	19478261	+	Silent	SNP	C	C	A	rs185986383		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:19478261C>A	ENST00000375254.3	-	48	7116	c.7089G>T	c.(7087-7089)cgG>cgT	p.R2363R	UBR4_ENST00000375226.2_Silent_p.R2363R|UBR4_ENST00000375267.2_Silent_p.R2363R|UBR4_ENST00000375217.2_Silent_p.R2363R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2363					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R2363R(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGACGGGGCCCGTTCTATTG	0.522																																							uc001bbi.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7087-7089)CGG>CGT		retinoblastoma-associated factor 600							186.0	175.0	179.0					1																	19478261		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19478261C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7089G>T	1.37:g.19478261C>A						UBR4_uc001bbk.1_Silent_p.R17R|UBR4_uc001bbl.1_Silent_p.R300R|UBR4_uc001bbm.1_Silent_p.R1575R	p.R2363R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	48	7093	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2363					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.7089G>T	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		22	76	1	0	4.26978e-12	0.00333	6.47191e-12	22	76				
PLA2G2A	5320	broad.mit.edu	37	1	20304510	20304510	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:20304510C>A	ENST00000375111.3	-	5	561	c.290G>T	c.(289-291)tGt>tTt	p.C97F	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.C97F|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	97					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)	p.C97F(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	ACTCTTACCACAGGTGATTCT	0.502																																							uc001bcu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(289-291)TGT>TTT		phospholipase A2, group IIA precursor							107.0	98.0	101.0					1																	20304510		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20304510C>A	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.290G>T	1.37:g.20304510C>A	ENSP00000364252:p.Cys97Phe					PLA2G2A_uc001bcv.2_Missense_Mutation_p.C97F|PLA2G2A_uc010oda.1_Missense_Mutation_p.C97F|PLA2G2A_uc010odb.1_Missense_Mutation_p.C97F	p.C97F	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	508	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	97					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.290G>T	CCDS201.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273009	0.40194	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.52295	0.67;0.67	5.1	4.2	0.49525	Phospholipase A2 (3);	0.200835	0.35646	N	0.003069	T	0.78960	0.4366	H	0.98786	4.33	0.20563	N	0.99989	D	0.89917	1.0	D	0.91635	0.999	T	0.74206	-0.3740	10	0.87932	D	0	.	9.2401	0.37491	0.0:0.9025:0.0:0.0975	.	97	P14555	PA2GA_HUMAN	F	97	ENSP00000383364:C97F;ENSP00000364252:C97F	ENSP00000364252:C97F	C	-	2	0	PLA2G2A	20177097	0.237000	0.23815	0.095000	0.20976	0.494000	0.33585	3.559000	0.53756	1.377000	0.46286	0.563000	0.77884	TGT		0.502	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		16	78	1	0	0.000422831	0.004007	0.000478794	16	78				
HSPG2	3339	broad.mit.edu	37	1	22176624	22176624	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:22176624C>G	ENST00000374695.3	-	57	7435	c.7356G>C	c.(7354-7356)caG>caC	p.Q2452H	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2452	Ig-like C2-type 10.				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)	p.Q2452H(1)		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)	GGTCCAGGGTCTGCCCCTCGG	0.672																																							uc001bfj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(7354-7356)CAG>CAC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						59.0	65.0	63.0					1																	22176624		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.chr1:22176624C>G	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.7356G>C	1.37:g.22176624C>G	ENSP00000363827:p.Gln2452His					HSPG2_uc009vqd.2_Missense_Mutation_p.Q2453H	p.Q2452H	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)	57	7396	-		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)	2452			Ig-like C2-type 10.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7356G>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463077	0.63513	.	.	ENSG00000142798	ENST00000374695	T	0.16196	2.36	5.29	4.34	0.51931	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36555	N	0.002521	T	0.33760	0.0874	L	0.52206	1.635	0.41020	D	0.985075	D;D	0.76494	0.984;0.999	D;D	0.85130	0.934;0.997	T	0.04976	-1.0914	10	0.66056	D	0.02	.	10.8562	0.46800	0.0:0.9016:0.0:0.0984	.	392;2452	Q59EG0;P98160	.;PGBM_HUMAN	H	2452	ENSP00000363827:Q2452H	ENSP00000363827:Q2452H	Q	-	3	2	HSPG2	22049211	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	2.623000	0.46435	1.140000	0.42260	-0.367000	0.07326	CAG		0.672	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	117	0	0	0	0.000978	0	12	117				
HSPG2	3339	broad.mit.edu	37	1	22222419	22222419	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:22222419C>T	ENST00000374695.3	-	3	319	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	80	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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)	p.Q80Q(1)		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)	ACTTACCCATCTGGAAGTCCC	0.582																																							uc001bfj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(238-240)CAG>CAA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						53.0	56.0	55.0					1																	22222419		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22222419C>T	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.240G>A	1.37:g.22222419C>T						HSPG2_uc009vqd.2_Silent_p.Q80Q|HSPG2_uc009vqe.1_Silent_p.Q35Q	p.Q80Q	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)	3	280	-		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)	80			SEA.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.240G>A	CCDS30625.1																																																																																				0.582	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	39	0	0	0	0.00308	0	6	39				
TMEM57	55219	broad.mit.edu	37	1	25824928	25824928	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:25824928G>C	ENST00000374343.4	+	11	2145	c.1966G>C	c.(1966-1968)Gcc>Ccc	p.A656P	TMEM57_ENST00000399766.3_Missense_Mutation_p.A429P|TMEM57_ENST00000399763.3_Missense_Mutation_p.A298P	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	656					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.A656P(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCCAATGCCTCTGTTTA	0.542																																							uc001bkk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1966-1968)GCC>CCC		transmembrane protein 57							82.0	82.0	82.0					1																	25824928		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25824928G>C	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1966G>C	1.37:g.25824928G>C	ENSP00000363463:p.Ala656Pro					TMEM57_uc009vru.2_Missense_Mutation_p.A429P|TMEM57_uc009vrv.2_Missense_Mutation_p.A298P	p.A656P	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	11	2168	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	656					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1966G>C	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104952	0.77096	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	.	.	.	5.75	5.75	0.90469	.	0.050455	0.85682	D	0.000000	D	0.83050	0.5170	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84421	0.0571	9	0.87932	D	0	-3.319	18.9268	0.92548	0.0:0.0:1.0:0.0	.	298;429;656	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	P	429;298;656	.	ENSP00000363463:A656P	A	+	1	0	TMEM57	25697515	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.181000	0.94874	2.706000	0.92434	0.655000	0.94253	GCC		0.542	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		28	80	0	0	0	0.008361	0	28	80				
SPOCD1	90853	broad.mit.edu	37	1	32259395	32259395	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:32259395T>C	ENST00000360482.2	-	12	2616	c.2487A>G	c.(2485-2487)ccA>ccG	p.P829P	SPOCD1_ENST00000533231.1_Silent_p.P829P|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Silent_p.P322P	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	829					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.P829P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGGCATCTCTGGAGCAGGCA	0.597																																							uc001bts.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(2485-2487)CCA>CCG		SPOC domain containing 1							162.0	163.0	162.0					1																	32259395		2203	4300	6503	SO:0001819	synonymous_variant	90853				transcription, DNA-dependent			g.chr1:32259395T>C	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2487A>G	1.37:g.32259395T>C						SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btt.2_Silent_p.P134P|SPOCD1_uc001btu.2_Silent_p.P829P|SPOCD1_uc001btv.2_Silent_p.P322P	p.P829P	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	12	2545	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	829					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	c.2487A>G	CCDS347.1	.	.	.	.	.	.	.	.	.	.	T	3.604	-0.081014	0.07141	.	.	ENSG00000134668	ENST00000528579	.	.	.	4.29	3.14	0.36123	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50233	-0.8852	4	.	.	.	-3.7232	7.1492	0.25601	0.1987:0.0:0.0:0.8013	.	.	.	.	R	203	.	.	Q	-	2	0	SPOCD1	32031982	0.992000	0.36948	0.891000	0.34965	0.321000	0.28281	1.190000	0.32126	0.960000	0.38005	0.460000	0.39030	CAG		0.597	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		13	177	0	0	0	0.00245	0	13	177				
BSDC1	55108	broad.mit.edu	37	1	32842006	32842006	+	Missense_Mutation	SNP	G	G	A	rs376175900		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:32842006G>A	ENST00000455895.2	-	9	1046	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	BSDC1_ENST00000341071.7_Missense_Mutation_p.T355M|BSDC1_ENST00000419121.2_Missense_Mutation_p.T282M|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Missense_Mutation_p.T277M|BSDC1_ENST00000449308.1_Missense_Mutation_p.T338M|BSDC1_ENST00000526031.1_Missense_Mutation_p.T243M|BSDC1_ENST00000446293.2_Missense_Mutation_p.T355M	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	338								p.T355M(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCAGCAGGCGTTAGGGGCTT	0.622																																							uc001bvh.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1012-1014)ACG>ATG		BSD domain containing 1 isoform b		G	MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	67.0	71.0	70.0		1064,845,728,1013	1.8	0.1	1		70	0,8600		0,0,4300	no	missense,missense,missense,missense	BSDC1	NM_001143888.1,NM_001143889.1,NM_001143890.1,NM_018045.6	81,81,81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	355/448,282/375,243/336,338/431	32842006	2,13004	2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32842006G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1013C>T	1.37:g.32842006G>A	ENSP00000412173:p.Thr338Met					BSDC1_uc010ohg.1_Missense_Mutation_p.T355M|BSDC1_uc010ohh.1_Missense_Mutation_p.T282M|BSDC1_uc010ohi.1_Missense_Mutation_p.T243M|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.T234M|BSDC1_uc001bvi.2_Missense_Mutation_p.T355M	p.T338M	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN			9	1060	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	338					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.1013C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376461	0.42105	4.54E-4	0.0	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	1.8	0.24995	.	0.715343	0.14417	N	0.320932	T	0.53578	0.1805	L	0.51422	1.61	0.09310	N	1	D;D;D;D;D	0.89917	0.997;0.997;0.995;1.0;0.991	P;P;P;D;P	0.68765	0.839;0.907;0.839;0.96;0.575	T	0.40997	-0.9533	9	0.62326	D	0.03	-1.7879	9.5724	0.39436	0.0754:0.2693:0.6553:0.0	.	243;282;355;355;338	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	M	338;277;355;243;282;355;338	.	ENSP00000344816:T355M	T	-	2	0	BSDC1	32614593	0.020000	0.18652	0.109000	0.21407	0.535000	0.34838	0.360000	0.20250	0.270000	0.21984	0.462000	0.41574	ACG		0.622	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		12	141	0	0	0	0.001855	0	12	141				
CSMD2	114784	broad.mit.edu	37	1	34204909	34204909	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:34204909G>C	ENST00000373381.4	-	15	2376	c.2200C>G	c.(2200-2202)Cct>Gct	p.P734A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	694	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P694A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAACGCCAGGATCCGGGCAC	0.522																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2080-2082)CCT>GCT		CUB and Sushi multiple domains 2							85.0	88.0	87.0					1																	34204909		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34204909G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2200C>G	1.37:g.34204909G>C	ENSP00000362479:p.Pro734Ala					CSMD2_uc001bxm.1_Missense_Mutation_p.P734A	p.P694A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			15	2109	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	694			Sushi 4.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2080C>G		.	.	.	.	.	.	.	.	.	.	G	33	5.226045	0.95173	.	.	ENSG00000121904	ENST00000373381	D	0.84730	-1.89	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94750	0.7926	10	0.59425	D	0.04	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	694;734	Q7Z408;E7EUA6	CSMD2_HUMAN;.	A	734	ENSP00000362479:P734A	ENSP00000241312:P694A	P	-	1	0	CSMD2	33977496	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCT		0.522	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		33	110	0	0	0	0.002445	0	33	110				
DLGAP3	58512	broad.mit.edu	37	1	35365744	35365744	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:35365744G>T	ENST00000373347.1	-	4	1506	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P413H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	413					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.P413H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGATGTCTTGGGGCTGCCGTC	0.652																																							uc001byc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1237-1239)CCC>CAC		discs, large (Drosophila) homolog-associated							116.0	107.0	110.0					1																	35365744		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365744G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1238C>A	1.37:g.35365744G>T	ENSP00000362444:p.Pro413His						p.P413H	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			2	1238	-		Myeloproliferative disorder(586;0.0393)	413					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.1238C>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355951	0.82243	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.19532	2.14;2.14	4.44	3.53	0.40419	.	0.183715	0.48767	D	0.000162	T	0.40196	0.1107	M	0.79926	2.475	0.43569	D	0.995893	D	0.69078	0.997	P	0.55667	0.781	T	0.46076	-0.9217	10	0.87932	D	0	-14.145	12.3449	0.55116	0.0827:0.0:0.9173:0.0	.	413	O95886	DLGP3_HUMAN	H	413;413;96	ENSP00000362444:P413H;ENSP00000235180:P413H	ENSP00000235180:P413H	P	-	2	0	DLGAP3	35138331	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.687000	0.84139	1.086000	0.41228	0.313000	0.20887	CCC		0.652	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		13	81	1	0	0.00185496	0.001855	0.00205513	13	81				
MACF1	23499	broad.mit.edu	37	1	39826501	39826501	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:39826501G>T	ENST00000372915.3	+	47	12383	c.12296G>T	c.(12295-12297)aGc>aTc	p.S4099I	MACF1_ENST00000317713.7_Missense_Mutation_p.S2032I|MACF1_ENST00000289893.4_Missense_Mutation_p.S2534I|MACF1_ENST00000361689.2_Missense_Mutation_p.S2032I|MACF1_ENST00000539005.1_Missense_Mutation_p.S2032I|MACF1_ENST00000545844.1_Missense_Mutation_p.S2032I|MACF1_ENST00000567887.1_Missense_Mutation_p.S4131I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.S4094I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4099					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S2534I(1)|p.S2032I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCTCCTATAGCCTGGCTGAG	0.443																																							uc010oiu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7600-7602)AGC>ATC		microfilament and actin filament cross-linker							56.0	55.0	56.0					1																	39826501		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39826501G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12296G>T	1.37:g.39826501G>T	ENSP00000362006:p.Ser4099Ile					MACF1_uc010ois.1_Missense_Mutation_p.S2032I|MACF1_uc001cda.1_Missense_Mutation_p.S1940I|MACF1_uc001cdc.1_Missense_Mutation_p.S1119I|MACF1_uc001cdb.1_Missense_Mutation_p.S1119I	p.S2534I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		12	7732	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4099			Spectrin 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7601G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.17|18.17	3.563651|3.563651	0.65651|0.65651	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76|.	5.8|5.8	4.89|4.89	0.63831|0.63831	.|.	0.266833|.	0.32401|.	N|.	0.006142|.	T|.	0.53302|.	0.1788|.	L|L	0.49778|0.49778	1.585|1.585	0.33353|0.33353	D|D	0.571294|0.571294	P;D;P;P|.	0.57571|.	0.933;0.98;0.952;0.833|.	P;D;P;P|.	0.65684|.	0.723;0.937;0.713;0.69|.	T|.	0.63817|.	-0.6551|.	10|.	0.72032|.	D|.	0.01|.	.|.	9.1836|9.1836	0.37156|0.37156	0.2287:0.0:0.7713:0.0|0.2287:0.0:0.7713:0.0	.|.	4099;2032;2032;1997|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	I|Y	2032;4099;2032;2032;2032;2534|1165	ENSP00000439537:S2032I;ENSP00000362006:S4099I;ENSP00000354573:S2032I;ENSP00000313438:S2032I;ENSP00000444364:S2032I;ENSP00000289893:S2534I|.	ENSP00000289893:S2534I|.	S|X	+|+	2|3	0|2	MACF1|MACF1	39599088|39599088	0.894000|0.894000	0.30519|0.30519	0.777000|0.777000	0.31699|0.31699	0.921000|0.921000	0.55340|0.55340	1.668000|1.668000	0.37481|0.37481	1.469000|1.469000	0.48083|0.48083	0.563000|0.563000	0.77884|0.77884	AGC|TAG		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	42	1	0	5.18039e-06	0.00308	6.37205e-06	8	42				
NT5C1A	84618	broad.mit.edu	37	1	40128985	40128985	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:40128985C>A	ENST00000235628.1	-	4	554	c.555G>T	c.(553-555)gaG>gaT	p.E185D		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	185					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.E185D(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TAGACTTACCCTCATCAATGG	0.552																																							uc001cdq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)GAG>GAT		5'-nucleotidase, cytosolic IA							166.0	152.0	156.0					1																	40128985		2203	4300	6503	SO:0001630	splice_region_variant	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40128985C>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.556+1G>T	1.37:g.40128985C>A							p.E185D	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	555	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	185					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.555G>T	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896674	0.52121	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	-1.94	0.07571	.	0.187367	0.56097	D	0.000032	T	0.68192	0.2974	M	0.75777	2.31	0.51233	D	0.999919	P	0.47350	0.894	P	0.54026	0.74	T	0.65681	-0.6109	9	0.29301	T	0.29	-3.5393	13.1719	0.59604	0.0:0.3767:0.0:0.6233	.	185	Q9BXI3	5NT1A_HUMAN	D	185	.	ENSP00000235628:E185D	E	-	3	2	NT5C1A	39901572	0.991000	0.36638	0.951000	0.38953	0.913000	0.54294	0.243000	0.18106	-0.806000	0.04398	-0.797000	0.03246	GAG		0.552	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526	Missense_Mutation	20	90	1	0	5.35356e-11	0.00278	7.91977e-11	20	90				
COL9A2	1298	broad.mit.edu	37	1	40776820	40776820	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:40776820T>A	ENST00000372748.3	-	12	673		c.e12-2			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CGCATGCCCCTGAAGGGAAGG	0.622																																							uc001cfh.1		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e12-1		alpha 2 type IX collagen precursor							136.0	120.0	125.0					1																	40776820		2203	4300	6503	SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40776820T>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.577-2A>T	1.37:g.40776820T>A						COL9A2_uc001cfi.1_Splice_Site_p.G12_splice	p.G193_splice	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		12	647	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B2RMP9	Splice_Site	SNP	ENST00000372748.3	37	c.577_splice	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	18.23	3.578663	0.65878	.	.	ENSG00000049089	ENST00000372748;ENST00000417105	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0115	0.53291	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL9A2	40549407	0.988000	0.35896	0.960000	0.40013	0.653000	0.38743	3.390000	0.52523	2.094000	0.63399	0.456000	0.33151	.		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron	14	39	0	0	0	0.004007	0	14	39				
ZFP69B	65243	broad.mit.edu	37	1	40929215	40929215	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:40929215G>T	ENST00000411995.2	+	6	1934	c.1559G>T	c.(1558-1560)aGa>aTa	p.R520I	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R418I|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	520					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R418I(1)|p.R520I(1)									TCCCTTATTAGACACTGCAAA	0.348																																							uc001cfn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1558-1560)AGA>ATA		zinc finger protein 643							49.0	52.0	51.0					1																	40929215		2203	4297	6500	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40929215G>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1559G>T	1.37:g.40929215G>T	ENSP00000399664:p.Arg520Ile					ZNF643_uc001cfl.1_Missense_Mutation_p.R418I|ZNF643_uc001cfm.1_Missense_Mutation_p.R386I	p.R520I	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	1856	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	520			C2H2-type 9.		Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.1559G>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	16.45	3.126867	0.56721	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.60920	0.15;0.15	3.33	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57755	0.2075	N	0.20610	0.595	0.29103	N	0.88137	D	0.89917	1.0	D	0.73708	0.981	T	0.50575	-0.8812	9	0.40728	T	0.16	.	8.6835	0.34223	0.1176:0.0:0.8824:0.0	.	520	Q9UJL9	ZN643_HUMAN	I	451;520;418	ENSP00000399664:R520I;ENSP00000354547:R418I	ENSP00000354547:R418I	R	+	2	0	ZNF643	40701802	.	.	0.976000	0.42696	0.990000	0.78478	.	.	0.974000	0.38366	0.655000	0.94253	AGA		0.348	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		6	54	1	0	2.7689e-08	0.001984	3.74372e-08	6	54				
RAD54L	8438	broad.mit.edu	37	1	46725742	46725742	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:46725742G>T	ENST00000371975.4	+	5	1052	c.378G>T	c.(376-378)ctG>ctT	p.L126L	RAD54L_ENST00000442598.1_Silent_p.L126L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	126					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L126L(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCCCCCGCTGAGCGCTCATG	0.557								Direct reversal of damage;Homologous recombination																															uc009vye.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(376-378)CTG>CTT	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							107.0	108.0	108.0					1																	46725742		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46725742G>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.378G>T	1.37:g.46725742G>T						RAD54L_uc001cpl.2_Silent_p.L126L|RAD54L_uc001cpm.1_5'UTR	p.L126L	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	6	492	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	126					Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.378G>T	CCDS532.1																																																																																				0.557	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		25	144	1	0	1.66031e-10	0.003954	2.42587e-10	25	144				
CYP4B1	1580	broad.mit.edu	37	1	47279690	47279690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:47279690G>T	ENST00000271153.4	+	6	763	c.727G>T	c.(727-729)Ggc>Tgc	p.G243C	CYP4B1_ENST00000452782.2_Missense_Mutation_p.G81C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G244C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.G229C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	243					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.G243S(1)|p.G243C(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CACCCCACATGGCCGCCGCTT	0.592																																							uc001cqm.3		NA																	2	Substitution - Missense(2)		NS(1)|lung(1)	ovary(1)|skin(1)	2						c.(727-729)GGC>TGC		cytochrome P450, family 4, subfamily B,							109.0	106.0	107.0					1																	47279690		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279690G>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.727G>T	1.37:g.47279690G>T	ENSP00000271153:p.Gly243Cys					CYP4B1_uc009vyl.1_Missense_Mutation_p.G80C|CYP4B1_uc001cqn.3_Missense_Mutation_p.G244C|CYP4B1_uc009vym.2_Missense_Mutation_p.G229C|CYP4B1_uc010omk.1_Missense_Mutation_p.G80C|CYP4B1_uc010oml.1_Missense_Mutation_p.G81C	p.G243C	NM_000779	NP_000770	P13584	CP4B1_HUMAN			6	811	+	Acute lymphoblastic leukemia(166;0.155)		243					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.727G>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763092	0.69763	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.08	5.08	0.68730	.	0.051334	0.85682	D	0.000000	D	0.85168	0.5635	M	0.92880	3.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.88592	0.3144	10	0.87932	D	0	.	13.8324	0.63389	0.0766:0.0:0.9234:0.0	.	81;229;244;243	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	C	244;243;229;81;80	ENSP00000360991:G244C;ENSP00000271153:G243C;ENSP00000360987:G229C;ENSP00000400413:G81C;ENSP00000437670:G80C	ENSP00000271153:G243C	G	+	1	0	CYP4B1	47052277	1.000000	0.71417	0.983000	0.44433	0.532000	0.34746	9.405000	0.97313	2.356000	0.79943	0.491000	0.48974	GGC		0.592	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		31	106	1	0	9.04072e-19	0.003271	1.54354e-18	31	106				
CYP4A11	1579	broad.mit.edu	37	1	47400232	47400232	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:47400232C>G	ENST00000310638.4	-	7	822		c.e7-1		CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000457840.2_Splice_Site|CYP4A11_ENST00000462347.1_Splice_Site|CYP4A11_ENST00000371905.1_Splice_Site|CYP4A11_ENST00000371904.4_Splice_Site_p.D265H	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11						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)	p.?(1)		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)	ATCACTTGGTCTGTACCAGAA	0.542																																							uc001cqp.3		NA																	1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.e7-1		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						67.0	62.0	63.0					1																	47400232		2203	4297	6500	SO:0001630	splice_region_variant	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.chr1:47400232C>G	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.791-1G>C	1.37:g.47400232C>G						CYP4A11_uc001cqq.2_Splice_Site_p.D264_splice|CYP4A11_uc010omm.1_Splice_Site	p.D264_splice	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			7	842	-								Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Splice_Site	SNP	ENST00000310638.4	37	c.791_splice	CCDS543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|N	13.58|13.58	2.279870|2.279870	0.40294|0.40294	.|.	.|.	ENSG00000187048|ENSG00000187048	ENST00000310638;ENST00000371905;ENST00000457840|ENST00000371904	.|T	.|0.70399	.|-0.48	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81583	.|0.4853	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80141	.|-0.1506	.|5	.|.	.|.	.|.	.|.	19.3902|19.3902	0.94578|0.94578	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|H	-1|265	.|ENSP00000360971:D265H	.|.	.|D	-|-	.|1	.|0	CYP4A11|CYP4A11	47172819|47172819	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.446000|0.446000	0.32137|0.32137	7.328000|7.328000	0.79160|0.79160	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	.|GAC		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	Intron	3	59	0	0	0	0.009096	0	3	59				
PODN	127435	broad.mit.edu	37	1	53541610	53541610	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:53541610A>G	ENST00000312553.5	+	5	699	c.692A>G	c.(691-693)tAt>tGt	p.Y231C	PODN_ENST00000371500.3_Missense_Mutation_p.Y212C|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	183					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.Y231C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAAGATCTATGGGCTCACC	0.617																																							uc001cuv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(691-693)TAT>TGT		podocan							63.0	47.0	52.0					1																	53541610		2202	4299	6501	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53541610A>G	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.692A>G	1.37:g.53541610A>G	ENSP00000308315:p.Tyr231Cys					PODN_uc001cuw.2_Missense_Mutation_p.Y212C|PODN_uc010onr.1_Missense_Mutation_p.Y212C|PODN_uc010ons.1_Intron	p.Y231C	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			5	699	+			183			LRR 4.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.692A>G	CCDS573.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726026	0.69074	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.39406	3.62;1.08	5.12	5.12	0.69794	.	0.183044	0.49916	D	0.000139	T	0.46678	0.1405	N	0.20986	0.625	0.80722	D	1	D;D	0.65815	0.995;0.957	P;P	0.60682	0.878;0.749	T	0.41502	-0.9505	10	0.38643	T	0.18	.	15.133	0.72539	1.0:0.0:0.0:0.0	.	212;231	Q7Z5L7-2;Q7Z5L7-3	.;.	C	212;231	ENSP00000360555:Y212C;ENSP00000308315:Y231C	ENSP00000308315:Y231C	Y	+	2	0	PODN	53314198	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.422000	0.66453	2.158000	0.67659	0.449000	0.29647	TAT		0.617	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		5	15	0	0	0	0.001984	0	5	15				
TCEANC2	127428	broad.mit.edu	37	1	54520164	54520165	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:54520164_54520165GG>TT	ENST00000234827.1	+	2	269_270	c.69_70GG>TT	c.(67-72)aaGGtt>aaTTtt	p.23_24KV>NF	TCEANC2_ENST00000498272.1_3'UTR|TMEM59_ENST00000234831.5_5'Flank|TCEANC2_ENST00000371331.1_Missense_Mutation_p.53_54KV>NF|TMEM59_ENST00000371337.3_5'Flank|TMEM59_ENST00000371341.1_5'Flank|MIR4781_ENST00000585250.1_RNA	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	23					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K23_V24>NF(1)		kidney(1)|lung(3)|pancreas(1)	5						CTGGAGGAAAGGTTTACAAGCA	0.48																																							uc001cwt.1		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(67-72)AAGGTT>AATTTT		hypothetical protein LOC127428																																				SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54520164_54520165GG>TT	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	Exception_encountered	1.37:g.54520164_54520165delinsTT	ENSP00000234827:p.K23_V24delinsNF					C1orf83_uc001cwu.1_RNA|TMEM59_uc001cwp.2_5'Flank|TMEM59_uc001cwq.2_5'Flank|TMEM59_uc001cwr.2_5'Flank|TMEM59_uc001cws.1_5'Flank	p.23_24KV>NF	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN			2	269_270	+			23_24					Q5T702|Q8N8N2	Missense_Mutation	DNP	ENST00000234827.1	37	c.69_70GG>TT	CCDS587.1																																																																																				0.480	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		8	43	0	0	0	0.004672	0	8	43				
MROH7	374977	broad.mit.edu	37	1	55145645	55145645	+	Missense_Mutation	SNP	G	G	T	rs372822211		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:55145645G>T	ENST00000421030.2	+	13	2593	c.2308G>T	c.(2308-2310)Gtc>Ttc	p.V770F	MROH7_ENST00000409996.1_Missense_Mutation_p.V338F|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.V770F|MROH7_ENST00000454855.2_Missense_Mutation_p.V288F|MROH7_ENST00000545244.1_Missense_Mutation_p.V338F|MROH7_ENST00000339553.5_Missense_Mutation_p.V770F|MROH7_ENST00000395690.2_Missense_Mutation_p.V770F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	770						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.V770F(2)									CCTGCTGCCCGTCTCCCTCCT	0.637																																							uc010ooe.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2308-2310)GTC>TTC		hypothetical protein LOC374977							108.0	121.0	117.0					1																	55145645		2033	4170	6203	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55145645G>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2308G>T	1.37:g.55145645G>T	ENSP00000396622:p.Val770Phe					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.V338F|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.V288F|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Missense_Mutation_p.V770F|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank	p.V770F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			13	2632	+			770			Helical; (Potential).		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2308G>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927267	0.52759	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	3.75	-0.727	0.11166	.	0.692560	0.11749	N	0.533227	T	0.35480	0.0933	L	0.54323	1.7	0.24718	N	0.993165	P;P;P	0.49783	0.928;0.897;0.813	P;B;P	0.47603	0.551;0.269;0.52	T	0.26087	-1.0113	10	0.87932	D	0	-10.6395	6.1547	0.20330	0.5808:0.0:0.4192:0.0	.	770;770;338	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	F	770;338;799;770;338;288;770	ENSP00000396622:V770F;ENSP00000442333:V338F;ENSP00000343211:V770F;ENSP00000387048:V338F;ENSP00000401130:V288F;ENSP00000379044:V770F	ENSP00000343211:V770F	V	+	1	0	HEATR8	54918233	0.016000	0.18221	0.989000	0.46669	0.970000	0.65996	-0.641000	0.05434	-0.019000	0.14055	-0.463000	0.05309	GTC		0.637	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		38	168	1	0	3.38236e-24	0.006999	6.03572e-24	38	168				
C8B	732	broad.mit.edu	37	1	57415296	57415296	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:57415296G>A	ENST00000371237.4	-	6	862	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	C8B_ENST00000535057.1_Missense_Mutation_p.L204F|C8B_ENST00000543257.1_Missense_Mutation_p.L214F	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	266	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.L266F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTGATGCCAAGTTCAAATATT	0.353																																							uc001cyp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(796-798)CTT>TTT		complement component 8, beta polypeptide							141.0	140.0	140.0					1																	57415296		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57415296G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.796C>T	1.37:g.57415296G>A	ENSP00000360281:p.Leu266Phe					C8B_uc010oon.1_Missense_Mutation_p.L204F|C8B_uc010ooo.1_Missense_Mutation_p.L214F	p.L266F	NM_000066	NP_000057	P07358	CO8B_HUMAN			6	863	-			266			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.796C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	7.335	0.619689	0.14193	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29655	1.74;1.74;1.56	5.19	-10.4	0.00318	Membrane attack complex component/perforin (MACPF) domain (1);	0.862029	0.10338	N	0.686655	T	0.06826	0.0174	N	0.03000	-0.44	0.18873	N	0.999981	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.17289	-1.0374	10	0.06625	T	0.88	0.6989	4.6562	0.12618	0.5326:0.0652:0.1807:0.2215	.	214;204;266	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	F	266;214;204	ENSP00000360281:L266F;ENSP00000442548:L214F;ENSP00000440113:L204F	ENSP00000360281:L266F	L	-	1	0	C8B	57187884	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-3.158000	0.00579	-2.177000	0.00769	0.591000	0.81541	CTT		0.353	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			4	62	0	0	0	0.009096	0	4	62				
HOOK1	51361	broad.mit.edu	37	1	60287598	60287598	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:60287598A>T	ENST00000371208.3	+	2	389	c.132A>T	c.(130-132)gcA>gcT	p.A44A	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.A2A	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	44	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.A44A(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTGCCATGGCACAAGTTCTTC	0.403																																							uc009wad.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(130-132)GCA>GCT		hook homolog 1							127.0	111.0	116.0					1																	60287598		2203	4300	6503	SO:0001819	synonymous_variant	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60287598A>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.132A>T	1.37:g.60287598A>T						HOOK1_uc001czo.2_Silent_p.A44A|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.A2A	p.A44A	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			3	234	+	all_cancers(7;0.000129)		44			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	ENST00000371208.3	37	c.132A>T	CCDS612.1																																																																																				0.403	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		11	45	0	0	0	0.001855	0	11	45				
L1TD1	54596	broad.mit.edu	37	1	62675725	62675725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:62675725G>T	ENST00000498273.1	+	4	1574	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	427	Glu-rich.							p.D427Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gttggaggaggatgaggcctc	0.522																																							uc001dae.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1279-1281)GAT>TAT		LINE-1 type transposase domain containing 1							46.0	45.0	45.0					1																	62675725		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62675725G>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1279G>T	1.37:g.62675725G>T	ENSP00000419901:p.Asp427Tyr						p.D427Y	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			4	1581	+			427			Glu-rich.		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1279G>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072762	0.20147	.	.	ENSG00000240563	ENST00000498273	T	0.12672	2.66	3.4	0.429	0.16506	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	P	0.34462	0.454	B	0.31614	0.133	T	0.33343	-0.9872	9	0.54805	T	0.06	.	5.4404	0.16504	0.389:0.0:0.611:0.0	.	427	Q5T7N2	LITD1_HUMAN	Y	427	ENSP00000419901:D427Y	ENSP00000419901:D427Y	D	+	1	0	L1TD1	62448313	0.096000	0.21769	0.000000	0.03702	0.021000	0.10359	2.561000	0.45905	0.112000	0.17975	0.448000	0.29417	GAT		0.522	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		11	34	1	0	3.86212e-05	0.008291	4.5402e-05	11	34				
KANK4	163782	broad.mit.edu	37	1	62740301	62740301	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:62740301G>C	ENST00000371153.4	-	3	853	c.475C>G	c.(475-477)Ctc>Gtc	p.L159V	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	159						cytoplasm (GO:0005737)		p.L159V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTCTCAAGAGCTGGGGCCGT	0.652																																							uc001dah.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(475-477)CTC>GTC		ankyrin repeat domain 38							29.0	33.0	31.0					1																	62740301		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62740301G>C	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.475C>G	1.37:g.62740301G>C	ENSP00000360195:p.Leu159Val					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.L159V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	852	-			159					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.475C>G	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059401	0.36373	.	.	ENSG00000132854	ENST00000371153	T	0.76578	-1.03	4.88	2.98	0.34508	.	0.000000	0.29684	N	0.011472	T	0.76456	0.3990	M	0.62723	1.935	0.80722	D	1	D	0.53312	0.959	P	0.47744	0.556	T	0.75202	-0.3401	10	0.56958	D	0.05	-13.5155	8.8435	0.35157	0.2328:0.0:0.7672:0.0	.	159	Q5T7N3	KANK4_HUMAN	V	159	ENSP00000360195:L159V	ENSP00000360195:L159V	L	-	1	0	KANK4	62512889	1.000000	0.71417	0.943000	0.38184	0.072000	0.16883	2.449000	0.44935	0.634000	0.30469	0.563000	0.77884	CTC		0.652	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		5	31	0	0	0	0.001168	0	5	31				
WDR78	79819	broad.mit.edu	37	1	67292659	67292659	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:67292659C>A	ENST00000371026.3	-	15	2238	c.2183G>T	c.(2182-2184)gGt>gTt	p.G728V	WDR78_ENST00000431318.1_Missense_Mutation_p.G441V|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	728					hematopoietic progenitor cell differentiation (GO:0002244)			p.G728V(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TATAATAACACCCCAATCTGC	0.358																																							uc001dcx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2182-2184)GGT>GTT		WD repeat domain 78 isoform 1							134.0	138.0	137.0					1																	67292659		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67292659C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2183G>T	1.37:g.67292659C>A	ENSP00000360065:p.Gly728Val					WDR78_uc009waw.2_Missense_Mutation_p.G441V|WDR78_uc009wax.2_RNA	p.G728V	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			15	2239	-			728			WD 4.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.2183G>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467303	0.63625	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.64618	0.24;-0.11;-0.11	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.159169	0.56097	D	0.000029	T	0.50718	0.1632	N	0.10809	0.05	0.47659	D	0.999489	P;P	0.51240	0.868;0.943	P;P	0.57009	0.494;0.811	T	0.60078	-0.7333	10	0.45353	T	0.12	-21.8177	18.6492	0.91423	0.0:1.0:0.0:0.0	.	441;728	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	V	728;441;461	ENSP00000360065:G728V;ENSP00000393182:G441V;ENSP00000433682:G461V	ENSP00000360065:G728V	G	-	2	0	WDR78	67065247	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.012000	0.57131	2.397000	0.81536	0.555000	0.69702	GGT		0.358	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		21	146	1	0	1.55469e-16	0.00333	2.58277e-16	21	146				
ERICH3	127254	broad.mit.edu	37	1	75037751	75037751	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:75037751C>A	ENST00000326665.5	-	14	3861	c.3643G>T	c.(3643-3645)Gcc>Tcc	p.A1215S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1215	Glu-rich.							p.A1215S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGCTAAGGCCCCCTCTCCA	0.597																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3643-3645)GCC>TCC		hypothetical protein LOC127254							93.0	92.0	92.0					1																	75037751		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037751C>A																												ENST00000326665.5:c.3643G>T	1.37:g.75037751C>A	ENSP00000322609:p.Ala1215Ser						p.A1215S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3862	-			1215			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3643G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.977	1.227064	0.22542	.	.	ENSG00000178965	ENST00000326665	T	0.11930	2.73	4.88	-7.33	0.01431	.	.	.	.	.	T	0.01627	0.0052	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.46105	-0.9215	9	0.09590	T	0.72	1.971	8.791	0.34850	0.0:0.3773:0.2866:0.3361	.	1215	Q5RHP9	CA173_HUMAN	S	1215	ENSP00000322609:A1215S	ENSP00000322609:A1215S	A	-	1	0	C1orf173	74810339	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.874000	0.01636	-1.934000	0.01051	-2.922000	0.00089	GCC		0.597	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			28	96	1	0	4.87955e-14	0.005443	7.71511e-14	28	96				
ERICH3	127254	broad.mit.edu	37	1	75038549	75038549	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:75038549C>A	ENST00000326665.5	-	14	3063	c.2845G>T	c.(2845-2847)Gca>Tca	p.A949S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		949	Glu-rich.							p.A949S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTATGGATGCTTCCTCTTCA	0.552																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2845-2847)GCA>TCA		hypothetical protein LOC127254							152.0	148.0	149.0					1																	75038549		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038549C>A																												ENST00000326665.5:c.2845G>T	1.37:g.75038549C>A	ENSP00000322609:p.Ala949Ser						p.A949S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3064	-			949			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2845G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225025	0.39300	.	.	ENSG00000178965	ENST00000326665	T	0.25749	1.78	5.0	-1.59	0.08453	.	.	.	.	.	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	P	0.38827	0.649	B	0.40199	0.322	T	0.33803	-0.9854	9	0.14656	T	0.56	-0.1161	5.7509	0.18146	0.1178:0.5209:0.0:0.3613	.	949	Q5RHP9	CA173_HUMAN	S	949	ENSP00000322609:A949S	ENSP00000322609:A949S	A	-	1	0	C1orf173	74811137	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.499000	0.06413	-0.639000	0.05502	-0.440000	0.05779	GCA		0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			21	142	1	0	1.55795e-14	0.001882	2.50181e-14	21	142				
PTGFR	5737	broad.mit.edu	37	1	78958528	78958528	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:78958528G>C	ENST00000370757.3	+	2	337	c.100G>C	c.(100-102)Gta>Cta	p.V34L	PTGFR_ENST00000370756.3_Missense_Mutation_p.V34L|PTGFR_ENST00000370758.1_Missense_Mutation_p.V34L	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	34					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.V34L(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ATTTTTTTCAGTAATCTTCAT	0.443																																							uc001din.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|skin(1)	6						c.(100-102)GTA>CTA		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						87.0	89.0	88.0					1																	78958528		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958528G>C	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.100G>C	1.37:g.78958528G>C	ENSP00000359793:p.Val34Leu					PTGFR_uc001dim.2_Missense_Mutation_p.V34L	p.V34L	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	366	+			34			Helical; Name=1; (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.100G>C	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890531	0.17613	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.32023	1.47;1.47;1.47	5.55	0.786	0.18590	.	0.477459	0.24511	N	0.037886	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B;B	0.26845	0.02;0.161	B;B	0.29176	0.01;0.099	T	0.41928	-0.9481	10	0.13470	T	0.59	-11.4554	8.9423	0.35738	0.7087:0.0:0.2913:0.0	.	34;34	P43088;P43088-2	PF2R_HUMAN;.	L	34	ENSP00000359794:V34L;ENSP00000359793:V34L;ENSP00000359792:V34L	ENSP00000359792:V34L	V	+	1	0	PTGFR	78731116	0.001000	0.12720	0.984000	0.44739	0.658000	0.38924	-0.003000	0.12901	0.161000	0.19458	-0.302000	0.09304	GTA		0.443	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		18	90	0	0	0	0.007413	0	18	90				
LPHN2	23266	broad.mit.edu	37	1	82433803	82433803	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:82433803G>T	ENST00000370728.1	+	16	3076	c.2431G>T	c.(2431-2433)Gac>Tac	p.D811Y	LPHN2_ENST00000359929.3_Missense_Mutation_p.D798Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.D811Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.D811Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.D736Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.D811Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.D811Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.D798Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.D798Y|LPHN2_ENST00000370715.1_Missense_Mutation_p.D798Y			O95490	LPHN2_HUMAN	latrophilin 2	811	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D798Y(1)|p.D811Y(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAAGCTGGTTGACACTAATAA	0.438																																							uc001dit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2392-2394)GAC>TAC		latrophilin 2 precursor							119.0	115.0	117.0					1																	82433803		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82433803G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2431G>T	1.37:g.82433803G>T	ENSP00000359763:p.Asp811Tyr					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.D798Y|LPHN2_uc001div.2_Missense_Mutation_p.D798Y|LPHN2_uc009wcd.2_Missense_Mutation_p.D798Y|LPHN2_uc001diw.2_Missense_Mutation_p.D382Y|LPHN2_uc009wce.1_5'Flank	p.D798Y	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	13	2573	+			811			Extracellular (Potential).|GPS.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2392G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.03|14.03	2.412510|2.412510	0.42817|0.42817	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.106707|.	0.64402|.	D|.	0.000007|.	T|T	0.37892|0.37892	0.1020|0.1020	N|N	0.12853|0.12853	0.265|0.265	0.46149|0.46149	D|D	0.998897|0.998897	P;P;P|.	0.51537|.	0.889;0.946;0.889|.	P;P;P|.	0.49502|.	0.476;0.613;0.481|.	T|T	0.34453|0.34453	-0.9828|-0.9828	10|5	0.72032|.	D|.	0.01|.	.|.	19.4104|19.4104	0.94670|0.94670	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	798;798;798|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Y|F	736;811;811;811;811;798;798;798;798;798;811;798;811;811|678	ENSP00000359756:D736Y;ENSP00000359763:D811Y;ENSP00000359765:D811Y;ENSP00000359762:D811Y;ENSP00000359760:D811Y;ENSP00000359758:D798Y;ENSP00000353006:D798Y;ENSP00000359750:D798Y;ENSP00000359748:D798Y;ENSP00000322270:D798Y;ENSP00000359752:D811Y;ENSP00000378344:D798Y;ENSP00000271029:D811Y;ENSP00000337306:D811Y|.	ENSP00000271029:D811Y|.	D|L	+|+	1|3	0|2	LPHN2|LPHN2	82206391|82206391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.522000|5.522000	0.67092|0.67092	2.584000|2.584000	0.87258|0.87258	0.585000|0.585000	0.79938|0.79938	GAC|TTG		0.438	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		17	73	1	0	4.14922e-12	0.004007	6.29536e-12	17	73				
WDR63	126820	broad.mit.edu	37	1	85592309	85592309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:85592309G>A	ENST00000294664.6	+	20	2408	c.2228G>A	c.(2227-2229)tGg>tAg	p.W743*	WDR63_ENST00000326813.8_Nonsense_Mutation_p.W704*|WDR63_ENST00000370596.1_Nonsense_Mutation_p.W704*	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	743								p.W743*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATTGATATCTGGGACCTTCTG	0.463																																							uc001dkt.2		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(2227-2229)TGG>TAG		WD repeat domain 63							83.0	80.0	81.0					1																	85592309		2203	4300	6503	SO:0001587	stop_gained	126820							g.chr1:85592309G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2228G>A	1.37:g.85592309G>A	ENSP00000294664:p.Trp743*					WDR63_uc009wcl.2_Nonsense_Mutation_p.W704*	p.W743*	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	20	2419	+			743			WD 4.		A8K988|Q96L72|Q96NU4	Nonsense_Mutation	SNP	ENST00000294664.6	37	c.2228G>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	42	9.650924	0.99229	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8863	18.7189	0.91686	0.0:0.0:1.0:0.0	.	.	.	.	X	704;704;743;25	.	ENSP00000294664:W743X	W	+	2	0	WDR63	85364897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.701000	0.91331	2.496000	0.84212	0.557000	0.71058	TGG		0.463	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		6	53	0	0	0	0.001168	0	6	53				
BARHL2	343472	broad.mit.edu	37	1	91178042	91178042	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:91178042C>A	ENST00000370445.4	-	3	1032	c.991G>T	c.(991-993)Gcg>Tcg	p.A331S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	331					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A331S(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCAGCCGCCGCCGCCGTAGTG	0.652																																					GBM(199;3561 4100 22440)	GBM(199;3561 4100 22440)	uc001dns.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)GCG>TCG		BarH-like homeobox 2							17.0	21.0	20.0					1																	91178042		2128	4200	6328	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91178042C>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.991G>T	1.37:g.91178042C>A	ENSP00000359474:p.Ala331Ser						p.A331S	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	3	1033	-		all_lung(203;0.0263)|Lung SC(238;0.128)	331					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.991G>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	c	10.89	1.479584	0.26511	.	.	ENSG00000143032	ENST00000370445	D	0.91945	-2.94	5.4	4.49	0.54785	.	0.124291	0.51477	D	0.000089	D	0.88160	0.6362	N	0.19112	0.55	0.48395	D	0.99964	D	0.63880	0.993	D	0.72625	0.978	D	0.86236	0.1640	10	0.13470	T	0.59	.	14.374	0.66860	0.0:0.9279:0.0:0.0721	.	331	Q9NY43	BARH2_HUMAN	S	331	ENSP00000359474:A331S	ENSP00000359474:A331S	A	-	1	0	BARHL2	90950630	0.991000	0.36638	0.018000	0.16275	0.007000	0.05969	3.029000	0.49712	1.443000	0.47586	-0.215000	0.12644	GCG		0.652	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			6	20	1	0	3.59834e-05	0.001168	4.24306e-05	6	20				
HFM1	164045	broad.mit.edu	37	1	91790257	91790257	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:91790257C>T	ENST00000370425.3	-	21	2500	c.2402G>A	c.(2401-2403)aGt>aAt	p.S801N	HFM1_ENST00000294696.5_Missense_Mutation_p.S33N|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S480N	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	801	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S801N(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCTTTTCCACTGATTGTATA	0.289																																							uc001doa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2401-2403)AGT>AAT		HFM1 protein							42.0	46.0	45.0					1																	91790257		2200	4293	6493	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91790257C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2402G>A	1.37:g.91790257C>T	ENSP00000359454:p.Ser801Asn					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S480N|HFM1_uc001dob.3_Missense_Mutation_p.S33N|HFM1_uc010osv.1_Missense_Mutation_p.S485N	p.S801N	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	21	2502	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	801			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2402G>A	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.647|8.647	0.897244|0.897244	0.17686|0.17686	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.43|5.43	2.02|2.02	0.26589|0.26589	Sec63 domain (2);|.	0.414667|.	0.27991|.	N|.	0.017024|.	T|T	0.08358|0.08358	0.0208|0.0208	N|N	0.17082|0.17082	0.46|0.46	0.22156|0.22156	N|N	0.999329|0.999329	B;B;B|.	0.09022|.	0.002;0.002;0.002|.	B;B;B|.	0.14023|.	0.002;0.01;0.01|.	T|T	0.34079|0.34079	-0.9843|-0.9843	10|5	0.20046|.	T|.	0.44|.	.|.	6.6068|6.6068	0.22729|0.22729	0.0:0.5071:0.0:0.4929|0.0:0.5071:0.0:0.4929	.|.	480;56;801|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	N|M	801;33;480;485|57	ENSP00000359454:S801N;ENSP00000294696:S33N;ENSP00000359453:S480N|.	ENSP00000294696:S33N|.	S|V	-|-	2|1	0|0	HFM1|HFM1	91562845|91562845	0.833000|0.833000	0.29383|0.29383	0.995000|0.995000	0.50966|0.50966	0.953000|0.953000	0.61014|0.61014	0.911000|0.911000	0.28584|0.28584	0.614000|0.614000	0.30107|0.30107	-0.262000|-0.262000	0.10625|0.10625	AGT|GTG		0.289	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	48	0	0	0	0.001168	0	5	48				
DNTTIP2	30836	broad.mit.edu	37	1	94342676	94342676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:94342676C>A	ENST00000436063.2	-	2	872	c.815G>T	c.(814-816)aGa>aTa	p.R272I	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R272I(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTCTGAACTTCTGTGGGAGAA	0.338																																							uc001dqf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(814-816)AGA>ATA		deoxynucleotidyltransferase, terminal,							68.0	62.0	64.0					1																	94342676		1817	4074	5891	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342676C>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.815G>T	1.37:g.94342676C>A	ENSP00000411010:p.Arg272Ile					DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.R67I	p.R272I	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	853	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	272					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.815G>T	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	3.467	-0.108691	0.06924	.	.	ENSG00000067334	ENST00000436063	T	0.15139	2.45	4.13	-0.423	0.12325	.	2.083720	0.01490	N	0.017020	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34725	-0.9817	10	0.34782	T	0.22	.	5.0078	0.14297	0.2884:0.5292:0.0:0.1823	.	272	Q5QJE6	TDIF2_HUMAN	I	272	ENSP00000411010:R272I	ENSP00000352137:R272I	R	-	2	0	DNTTIP2	94115264	0.000000	0.05858	0.006000	0.13384	0.366000	0.29705	-0.169000	0.09911	0.061000	0.16311	0.655000	0.94253	AGA		0.338	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		14	81	1	0	1.49906e-05	0.00245	1.79654e-05	14	81				
HIAT1	64645	broad.mit.edu	37	1	100515506	100515506	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100515506C>A	ENST00000370152.3	+	2	262	c.126C>A	c.(124-126)atC>atA	p.I42I		NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	42					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I42I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATGCAGTTATCGTCATCTTTT	0.318																																							uc001dst.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(124-126)ATC>ATA		hippocampus abundant transcript 1							143.0	138.0	140.0					1																	100515506		2203	4300	6503	SO:0001819	synonymous_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100515506C>A	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.126C>A	1.37:g.100515506C>A							p.I42I	NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	2	126	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	42			Helical; Name=1; (Potential).		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	c.126C>A	CCDS763.1																																																																																				0.318	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		12	68	1	0	2.61681e-11	0.00245	3.89738e-11	12	68				
RTCA	8634	broad.mit.edu	37	1	100752704	100752704	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100752704G>T	ENST00000370128.4	+	10	1113	c.944G>T	c.(943-945)gGa>gTa	p.G315V	RTCA_ENST00000260563.4_Missense_Mutation_p.G328V	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	315					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)	p.G315V(1)									ATAAAAACAGGACCAGTTACA	0.323																																							uc001dtc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(943-945)GGA>GTA		RNA terminal phosphate cyclase domain 1 isoform							89.0	87.0	88.0					1																	100752704		2203	4300	6503	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100752704G>T	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.944G>T	1.37:g.100752704G>T	ENSP00000359146:p.Gly315Val					RTCD1_uc001dtd.2_Missense_Mutation_p.G328V	p.G315V	NM_003729	NP_003720	O00442	RTC1_HUMAN		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	10	1162	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	315					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.944G>T	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633520	0.87660	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.77	5.77	0.91146	-terminal phosphate cyclase domain (2);RNA 3&apos (4);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.76181	-0.3053	9	0.66056	D	0.02	-17.4612	18.1351	0.89616	0.0:0.0:1.0:0.0	.	328;315	O00442-2;O00442	.;RTC1_HUMAN	V	315;328	.	ENSP00000260563:G328V	G	+	2	0	RTCD1	100525292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.319000	0.79040	2.885000	0.99019	0.655000	0.94253	GGA		0.323	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			15	67	1	0	2.39187e-15	0.008871	3.902e-15	15	67				
CDC14A	8556	broad.mit.edu	37	1	100889851	100889851	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100889851C>T	ENST00000336454.3	+	5	738	c.383C>T	c.(382-384)cCa>cTa	p.P128L	CDC14A_ENST00000370125.2_Missense_Mutation_p.P128L|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.P128L|CDC14A_ENST00000544534.1_Missense_Mutation_p.P128L|CDC14A_ENST00000370124.3_Missense_Mutation_p.P128L|CDC14A_ENST00000542213.1_Missense_Mutation_p.P70L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	128	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P128L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CCCTATCTTCCATTCAGGTAT	0.388																																							uc001dtg.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(382-384)CCA>CTA		CDC14 homolog A isoform 1							81.0	86.0	84.0					1																	100889851		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100889851C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.383C>T	1.37:g.100889851C>T	ENSP00000336739:p.Pro128Leu					CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.P70L|CDC14A_uc001dte.3_Missense_Mutation_p.P128L|CDC14A_uc001dtf.2_Missense_Mutation_p.P128L|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.P128L	p.P128L	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	5	871	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	128			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.383C>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468001	0.84533	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T;T	0.43688	1.27;1.27;0.94;1.27;1.27;1.27;1.27	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D	0.69078	0.975;0.995;0.995;0.997;0.972	P;P;P;D;P	0.65987	0.72;0.845;0.845;0.94;0.496	T	0.73953	-0.3820	10	0.72032	D	0.01	-13.7436	15.7506	0.77983	0.0:1.0:0.0:0.0	.	70;128;128;128;128	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	L	70;129;128;128;128;128;128	ENSP00000442640:P70L;ENSP00000388501:P129L;ENSP00000359143:P128L;ENSP00000354916:P128L;ENSP00000359142:P128L;ENSP00000336739:P128L;ENSP00000442543:P128L	ENSP00000336739:P128L	P	+	2	0	CDC14A	100662439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.453000	0.66645	2.861000	0.98227	0.655000	0.94253	CCA		0.388	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		15	64	0	0	0	0.004007	0	15	64				
CDC14A	8556	broad.mit.edu	37	1	100960421	100960422	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:100960421_100960422GG>CT	ENST00000336454.3	+	12	1540_1541	c.1185_1186GG>CT	c.(1183-1188)caGGga>caCTga	p.395_396QG>H*	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.395_396QG>H*|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.395_396QG>H*|CDC14A_ENST00000542213.1_Nonsense_Mutation_p.337_338QG>H*	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	395					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Q395_G396>H*(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GTATAACCCAGGGAGACAAACT	0.371																																							uc001dtg.3		NA																	1	Complex - compound substitution(1)		lung(1)	large_intestine(1)	1						c.(1183-1188)CAGGGA>CACTGA		CDC14 homolog A isoform 1																																				SO:0001587	stop_gained	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100960421_100960422GG>CT	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	Exception_encountered	1.37:g.100960421_100960422delinsCT	ENSP00000336739:p.Q395_G396delinsH*					CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Nonsense_Mutation_p.337_338QG>H*|CDC14A_uc001dtf.2_Nonsense_Mutation_p.395_396QG>H*|CDC14A_uc009wed.1_Nonsense_Mutation_p.102_103QG>H*|CDC14A_uc009wee.2_Nonsense_Mutation_p.395_396QG>H*	p.395_396QG>H*	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	12	1673_1674	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	395_396					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Nonsense_Mutation	DNP	ENST00000336454.3	37	c.1185_1186GG>CT	CCDS769.1																																																																																				0.371	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		4	46	0	0	0	0.004672	0	4	46				
COL11A1	1301	broad.mit.edu	37	1	103428282	103428282	+	Missense_Mutation	SNP	C	C	A	rs147271219		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:103428282C>A	ENST00000370096.3	-	39	3263	c.2951G>T	c.(2950-2952)cGt>cTt	p.R984L	COL11A1_ENST00000353414.4_Missense_Mutation_p.R945L|COL11A1_ENST00000358392.2_Missense_Mutation_p.R996L|COL11A1_ENST00000512756.1_Missense_Mutation_p.R868L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	984	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R996L(1)|p.R984L(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGATGCCCACGTTCCCCTAT	0.453																																							uc001dul.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2950-2952)CGT>CTT		alpha 1 type XI collagen isoform A							95.0	93.0	94.0					1																	103428282		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428282C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2951G>T	1.37:g.103428282C>A	ENSP00000359114:p.Arg984Leu					COL11A1_uc001duk.2_Missense_Mutation_p.R180L|COL11A1_uc001dum.2_Missense_Mutation_p.R996L|COL11A1_uc001dun.2_Missense_Mutation_p.R945L|COL11A1_uc009weh.2_Missense_Mutation_p.R868L	p.R984L	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3269	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	984			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2951G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573123	0.86542	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.0	5.67	5.67	0.87782	.	0.115539	0.56097	D	0.000025	D	0.96065	0.8718	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D	0.71674	0.987;0.996;0.998;0.993;0.992	D;D;D;D;D	0.80764	0.953;0.992;0.994;0.982;0.979	D	0.95855	0.8878	10	0.66056	D	0.02	.	19.7741	0.96385	0.0:1.0:0.0:0.0	.	868;945;996;984;204	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	L	984;996;945;204;868	ENSP00000359114:R984L;ENSP00000351163:R996L;ENSP00000302551:R945L;ENSP00000426533:R868L	ENSP00000302551:R945L	R	-	2	0	COL11A1	103200870	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.719000	0.84751	2.673000	0.90976	0.557000	0.71058	CGT		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	83	1	0	1.58986e-06	0.008291	2.00195e-06	11	83				
COL11A1	1301	broad.mit.edu	37	1	103444661	103444661	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:103444661C>G	ENST00000370096.3	-	33	2923		c.e33-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGCTACTCCCTAGCAAAGAC	0.408																																							uc001dul.2		NA																	2	Unknown(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.e33-1		alpha 1 type XI collagen isoform A							46.0	50.0	48.0					1																	103444661		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444661C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2611-1G>C	1.37:g.103444661C>G						COL11A1_uc001duk.2_Splice_Site_p.G67_splice|COL11A1_uc001dum.2_Splice_Site_p.G883_splice|COL11A1_uc001dun.2_Splice_Site_p.G832_splice|COL11A1_uc009weh.2_Splice_Site_p.G755_splice	p.G871_splice	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	33	2929	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.2611_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425149	0.83667	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2059	0.93729	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103217249	1.000000	0.71417	0.997000	0.53966	0.855000	0.48748	7.261000	0.78400	2.612000	0.88384	0.655000	0.94253	.		0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	4	31	0	0	0	0.009096	0	4	31				
AMY1B	277	broad.mit.edu	37	1	104234119	104234119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:104234119C>T	ENST00000330330.5	-	7	1286	c.992G>A	c.(991-993)tGg>tAg	p.W331*	AMY1B_ENST00000464691.1_5'Flank|AMY1B_ENST00000370080.3_Nonsense_Mutation_p.W331*	NM_001008218.1	NP_001008219.1	P04745	AMY1_HUMAN	amylase, alpha 1B (salivary)	331					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.W331*(1)		large_intestine(1)|lung(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CCTAGCATCCCAGAAGGTAAG	0.383																																						Pancreas(131;743 2392 43382 44986)	uc001dux.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(991-993)TGG>TAG		salivary amylase alpha 1A precursor							64.0	90.0	83.0					1																	104234119		971	2808	3779	SO:0001587	stop_gained	276				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	g.chr1:104234119C>T		CCDS30783.1	1p21	2012-10-02	2007-05-03		ENSG00000174876	ENSG00000174876	3.2.1.1		475	protein-coding gene	gene with protein product		104701	"""amylase, alpha 1B; salivary"""	AMY1			Standard	XM_005270758		Approved			P04745	OTTHUMG00000011021	ENST00000330330.5:c.992G>A	1.37:g.104234119C>T	ENSP00000330484:p.Trp331*					AMY1A_uc001duw.1_Nonsense_Mutation_p.W331*	p.W331*	NM_001008221	NP_001008222	P04745	AMY1_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	7	1206	-		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	331					A6NJS5|A8K8H6|Q13763|Q5T083	Nonsense_Mutation	SNP	ENST00000330330.5	37	c.992G>A	CCDS30783.1	.	.	.	.	.	.	.	.	.	.	-	20.3	3.971390	0.74246	.	.	ENSG00000174876	ENST00000416771;ENST00000370080;ENST00000330330	.	.	.	2.08	2.08	0.27032	.	0.249986	0.43747	D	0.000524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	8.3383	0.32228	0.2358:0.7642:0.0:0.0	.	.	.	.	X	331	.	ENSP00000330484:W331X	W	-	2	0	AMY1B	104035642	1.000000	0.71417	0.987000	0.45799	0.070000	0.16714	3.439000	0.52878	1.150000	0.42419	0.184000	0.17185	TGG		0.383	AMY1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030309.1	NM_001008218		50	201	0	0	0	0.00361	0	50	201				
NTNG1	22854	broad.mit.edu	37	1	107979327	107979327	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:107979327T>A	ENST00000370068.1	+	7	2142	c.1296T>A	c.(1294-1296)tgT>tgA	p.C432*	NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.C398*|NTNG1_ENST00000542803.1_Nonsense_Mutation_p.C432*|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.C432*|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	432	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.C432*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATGATCGTTGTAATGGCTCAG	0.463																																							uc001dvh.3		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1294-1296)TGT>TGA		netrin G1 isoform 1							177.0	150.0	158.0					1																	107979327		1568	3582	5150	SO:0001587	stop_gained	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107979327T>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1296T>A	1.37:g.107979327T>A	ENSP00000359085:p.Cys432*					NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Nonsense_Mutation_p.C398*|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	p.C432*	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	2014	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	432			Laminin EGF-like 3.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Nonsense_Mutation	SNP	ENST00000370068.1	37	c.1296T>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	T	44	10.790352	0.99468	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0511	0.47889	0.0:0.0685:0.0:0.9315	.	.	.	.	X	432;432;398;235;179;432	.	ENSP00000359078:C398X	C	+	3	2	NTNG1	107780850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.965000	0.70387	2.371000	0.80710	0.533000	0.62120	TGT		0.463	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		8	50	0	0	0	0.00308	0	8	50				
VAV3	10451	broad.mit.edu	37	1	108315437	108315437	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:108315437G>C	ENST00000370056.4	-	5	749	c.475C>G	c.(475-477)Ctc>Gtc	p.L159V	VAV3_ENST00000527011.1_Missense_Mutation_p.L159V|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.L94V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	159					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.L159V(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGTCATAGAGATCTTCTTCA	0.388																																							uc001dvk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|breast(2)	9						c.(475-477)CTC>GTC		vav 3 guanine nucleotide exchange factor isoform							170.0	158.0	162.0					1																	108315437		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108315437G>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.475C>G	1.37:g.108315437G>C	ENSP00000359073:p.Leu159Val					VAV3_uc010ouw.1_Missense_Mutation_p.L159V|VAV3_uc001dvl.1_Translation_Start_Site|VAV3_uc010oux.1_Missense_Mutation_p.L159V	p.L159V	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	5	529	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	159					B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.475C>G	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.51|12.51	1.958669|1.958669	0.34565|0.34565	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	6.07|6.07	5.07|5.07	0.68467|0.68467	.|Calponin homology domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13157|0.13157	0.0319|0.0319	L|L	0.50919|0.50919	1.6|1.6	0.37394|0.37394	D|D	0.912558|0.912558	.|B;B;B	.|0.25719	.|0.008;0.13;0.132	.|B;B;B	.|0.27608	.|0.013;0.063;0.081	T|T	0.05321|0.05321	-1.0892|-1.0892	5|10	.|0.19147	.|T	.|0.46	.|.	8.3089|8.3089	0.32060|0.32060	0.1905:0.0:0.8095:0.0|0.1905:0.0:0.8095:0.0	.|.	.|159;159;159	.|B7ZLR1;E9PQ97;Q9UKW4	.|.;.;VAV3_HUMAN	M|V	153|159;159;94	.|ENSP00000359073:L159V;ENSP00000432540:L159V;ENSP00000360912:L94V	.|ENSP00000359073:L159V	I|L	-|-	3|1	3|0	VAV3|VAV3	108116960|108116960	0.677000|0.677000	0.27577|0.27577	0.994000|0.994000	0.49952|0.49952	0.892000|0.892000	0.51952|0.51952	0.930000|0.930000	0.28858|0.28858	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATC|CTC		0.388	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		17	74	0	0	0	0.004007	0	17	74				
KCNC4	3749	broad.mit.edu	37	1	110768730	110768730	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:110768730C>T	ENST00000369787.3	+	3	1776	c.1749C>T	c.(1747-1749)aaC>aaT	p.N583N	KCNC4_ENST00000413138.3_Silent_p.N583N|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.N583N	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	583					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.N583N(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGACAGAAACAAGAAGGCAG	0.647																																							uc001dzh.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1747-1749)AAC>AAT		Shaw-related voltage-gated potassium channel							70.0	77.0	75.0					1																	110768730		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768730C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1749C>T	1.37:g.110768730C>T						KCNC4_uc009wfr.2_Silent_p.N583N|KCNC4_uc001dzg.2_Silent_p.N583N|KCNC4_uc001dzi.2_RNA	p.N583N	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1806	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	583			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1749C>T	CCDS821.1																																																																																				0.647	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		12	39	0	0	0	0.001368	0	12	39				
MAN1A2	10905	broad.mit.edu	37	1	118045579	118045579	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:118045579G>T	ENST00000356554.3	+	12	2515	c.1780G>T	c.(1780-1782)Gct>Tct	p.A594S		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	594					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)	p.A594S(1)		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)		CTTTTTTCTTGCTGAAACATT	0.338																																					Ovarian(33;199 881 8228 13687 31538)	Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1780-1782)GCT>TCT		mannosidase, alpha, class 1A, member 2							73.0	68.0	70.0					1																	118045579		2203	4298	6501	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.chr1:118045579G>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.1780G>T	1.37:g.118045579G>T	ENSP00000348959:p.Ala594Ser						p.A594S	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)	12	2501	+	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)	594			Lumenal (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.1780G>T	CCDS895.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.9|27.9|27.9	4.875413|4.875413|4.875413	0.91664|0.91664|0.91664	.|.|.	.|.|.	ENSG00000198162|ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000369450;ENST00000329466;ENST00000422329|ENST00000421535|ENST00000449370	T;T|.|.	0.79352|.|.	-1.26;-1.26|.|.	5.5|5.5|5.5	5.5|5.5|5.5	0.81552|0.81552|0.81552	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.65749|0.65749|0.65749	0.2721|0.2721|0.2721	M|M|M	0.63208|0.63208|0.63208	1.945|1.945|1.945	0.80722|0.80722|0.80722	D|D|D	1|1|1	P|.|.	0.46020|.|.	0.871|.|.	P|.|.	0.60236|.|.	0.871|.|.	T|T|T	0.63778|0.63778|0.63778	-0.6560|-0.6560|-0.6560	10|5|5	0.41790|.|.	T|.|.	0.15|.|.	-15.1041|-15.1041|-15.1041	16.8979|16.8979|16.8979	0.86105|0.86105|0.86105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	594|.|.	O60476|.|.	MA1A2_HUMAN|.|.	S|F|F	594;358;128;33|160|326	ENSP00000348959:A594S;ENSP00000402416:A33S|.|.	ENSP00000358462:A128S|.|.	A|C|L	+|+|+	1|2|3	0|0|2	MAN1A2|MAN1A2|MAN1A2	117847102|117847102|117847102	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	6.376000|6.376000|6.376000	0.73141|0.73141|0.73141	2.591000|2.591000|2.591000	0.87537|0.87537|0.87537	0.603000|0.603000|0.603000	0.83216|0.83216|0.83216	GCT|TGC|TTG		0.338	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		5	32	1	0	0.000602214	0.000602	0.000674971	5	32				
NOTCH2	4853	broad.mit.edu	37	1	120461117	120461117	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:120461117G>A	ENST00000256646.2	-	32	6060	c.5841C>T	c.(5839-5841)ccC>ccT	p.P1947P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1947					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P1947P(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGATCAGGGGTGTAGTAC	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - coding silent(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(5839-5841)CCC>CCT		notch 2 preproprotein							99.0	87.0	91.0					1																	120461117		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120461117G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5841C>T	1.37:g.120461117G>A							p.P1947P	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	6097	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1947			Cytoplasmic (Potential).|ANK 4.		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.5841C>T	CCDS908.1																																																																																				0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	62	0	0	0	0.001855	0	14	62				
NBPF9	400818	broad.mit.edu	37	1	144828733	144828733	+	Silent	SNP	G	G	T	rs587704710	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:144828733G>T	ENST00000281815.8	+	13	1319	c.573G>T	c.(571-573)acG>acT	p.T191T	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Silent_p.T593T			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	851	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TTACTTTGACGGTGACAAGTC	0.458													.|||	3	0.000599042	0.0	0.0	5008	,	,		35312	0.003		0.0	False		,,,				2504	0.0						uc009wig.1		NA																	0					0						c.(2776-2778)ACG>ACT		hypothetical protein LOC400818							48.0	37.0	41.0					1																	144828733		692	1590	2282	SO:0001819	synonymous_variant	400818					cytoplasm		g.chr1:144828733G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.573G>T	1.37:g.144828733G>T						NBPF9_uc010oxn.1_Silent_p.T824T|NBPF9_uc010oxo.1_Silent_p.T851T|NBPF9_uc010oxr.1_Silent_p.T953T|NBPF9_uc010oxt.1_Silent_p.T741T|NBPF9_uc001ekg.1_Silent_p.T253T|NBPF9_uc001ekk.1_Silent_p.T497T|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Silent_p.T253T|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Silent_p.T586T|uc001elr.3_5'Flank	p.T926T	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			23	2854	+			926			NBPF 7.			Silent	SNP	ENST00000281815.8	37	c.2778G>T		.	.	.	.	.	.	.	.	.	.	.	0.975	-0.698999	0.03279	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.195	0.195	0.15151	.	.	.	.	.	T	0.14141	0.0342	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29549	-1.0008	3	.	.	.	.	.	.	.	.	.	.	.	L	667	.	.	R	+	2	0	NBPF9	143540090	0.002000	0.14202	0.012000	0.15200	0.006000	0.05464	-1.326000	0.02685	0.300000	0.22699	0.306000	0.20318	CGG		0.458	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		24	464	1	0	1.96895e-08	0.00278	2.67152e-08	24	464				
ANKRD35	148741	broad.mit.edu	37	1	145558896	145558896	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:145558896T>A	ENST00000355594.4	+	7	602	c.515T>A	c.(514-516)cTg>cAg	p.L172Q	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	172								p.L172Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCTCACAGCTGCTGCAGCGA	0.547																																					Melanoma(9;127 754 22988 51047)	Melanoma(9;127 754 22988 51047)	uc001eob.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(514-516)CTG>CAG		ankyrin repeat domain 35							101.0	96.0	98.0					1																	145558896		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145558896T>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.515T>A	1.37:g.145558896T>A	ENSP00000347802:p.Leu172Gln					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.L15Q	p.L172Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			7	623	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		172			ANK 4.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.515T>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433434	0.83776	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.78924	-1.22	5.65	5.65	0.86999	Ankyrin repeat-containing domain (4);	0.000000	0.37809	N	0.001928	D	0.90672	0.7074	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93415	0.6772	10	0.87932	D	0	-11.6665	12.2746	0.54728	0.0:0.0:0.0:1.0	.	172	Q8N283	ANR35_HUMAN	Q	81;172	ENSP00000347802:L172Q	ENSP00000347802:L172Q	L	+	2	0	ANKRD35	144270253	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.038000	0.57318	2.152000	0.67230	0.533000	0.62120	CTG		0.547	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		28	139	0	0	0	0.002096	0	28	139				
GJA8	2703	broad.mit.edu	37	1	147380368	147380368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:147380368G>T	ENST00000369235.1	+	1	286	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	GJA8_ENST00000240986.4_Missense_Mutation_p.A96S			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	96					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.A96S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGTGGGGCACGCGGTGCACTA	0.657																																					Melanoma(76;1255 1795 8195 52096)	Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	1	Substitution - Missense(1)	p.A96V(1)	lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(286-288)GCG>TCG		connexin 50							104.0	85.0	91.0					1																	147380368		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380368G>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.286G>T	1.37:g.147380368G>T	ENSP00000358238:p.Ala96Ser						p.A96S	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	349	+	all_hematologic(923;0.0276)		96			Helical; (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.286G>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	19.68	3.872287	0.72180	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99113	-5.44;-5.44	5.2	5.2	0.72013	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	L	0.51422	1.61	0.58432	D	0.999997	D	0.76494	0.999	D	0.70227	0.968	D	0.99782	1.1028	10	0.72032	D	0.01	.	13.0889	0.59156	0.0777:0.0:0.9223:0.0	.	96	P48165	CXA8_HUMAN	S	96	ENSP00000240986:A96S;ENSP00000358238:A96S	ENSP00000240986:A96S	A	+	1	0	GJA8	145846992	1.000000	0.71417	0.709000	0.30452	0.628000	0.37860	7.936000	0.87665	2.409000	0.81822	0.491000	0.48974	GCG		0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		38	44	1	0	3.09479e-21	0.006999	5.3792e-21	38	44				
TARS2	80222	broad.mit.edu	37	1	150469316	150469316	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:150469316A>T	ENST00000369064.3	+	9	986	c.952A>T	c.(952-954)Agc>Tgc	p.S318C	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	318					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.S318C(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCATGAACTGAGCCCTGGGAG	0.522																																							uc001euq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)AGC>TGC		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						80.0	73.0	75.0					1																	150469316		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150469316A>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.952A>T	1.37:g.150469316A>T	ENSP00000358060:p.Ser318Cys					TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Intron|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Intron	p.S318C	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		9	959	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		318					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.952A>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072095	0.93950	.	.	ENSG00000143374	ENST00000369064	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.90215	0.6941	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94254	0.7496	9	0.87932	D	0	-19.2247	15.2145	0.73254	1.0:0.0:0.0:0.0	.	318	Q9BW92	SYTM_HUMAN	C	318	.	ENSP00000358060:S318C	S	+	1	0	TARS2	148735940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.674000	0.91191	2.260000	0.74910	0.533000	0.62120	AGC		0.522	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		9	93	0	0	0	0.008291	0	9	93				
FLG	2312	broad.mit.edu	37	1	152277576	152277576	+	Silent	SNP	G	G	A	rs568676487		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152277576G>A	ENST00000368799.1	-	3	9821	c.9786C>T	c.(9784-9786)gcC>gcT	p.A3262A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3262	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)	p.A3262A(1)		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)			GCCCGTGACCGGCTCTGTCTT	0.582									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		19398	0.0		0.0	False		,,,				2504	0.001						uc001ezu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9784-9786)GCC>GCT		filaggrin																																				SO:0001819	synonymous_variant	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.chr1:152277576G>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.9786C>T	1.37:g.152277576G>A							p.A3262A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9822	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3262			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.9786C>T	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		23	625	0	0	0	0.002299	0	23	625				
FLG2	388698	broad.mit.edu	37	1	152326249	152326249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152326249C>A	ENST00000388718.5	-	3	4085	c.4013G>T	c.(4012-4014)aGa>aTa	p.R1338I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1338					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1338I(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGATGTTCTGGAACCTGT	0.488																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4012-4014)AGA>ATA		filaggrin family member 2							275.0	239.0	251.0					1																	152326249		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326249C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4013G>T	1.37:g.152326249C>A	ENSP00000373370:p.Arg1338Ile					uc001ezv.2_Intron	p.R1338I	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1338					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4013G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191628	0.21954	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.42	1.27	0.21489	.	.	.	.	.	T	0.00967	0.0032	L	0.47716	1.5	0.09310	N	1	P	0.41910	0.764	B	0.29176	0.099	T	0.47837	-0.9086	9	0.22109	T	0.4	1.0218	3.1874	0.06606	0.2528:0.5855:0.0:0.1617	.	1338	Q5D862	FILA2_HUMAN	I	1338	ENSP00000373370:R1338I	ENSP00000373370:R1338I	R	-	2	0	FLG2	150592873	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.012000	0.13287	0.174000	0.19809	0.306000	0.20318	AGA		0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		16	351	1	0	3.41278e-10	0.00499	4.95352e-10	16	351				
CRNN	49860	broad.mit.edu	37	1	152382339	152382339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152382339C>A	ENST00000271835.3	-	3	1281	c.1219G>T	c.(1219-1221)Ggg>Tgg	p.G407W	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	407					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.G407W(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTTGCCCCAGTCTGGGCC	0.607																																							uc001ezx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1219-1221)GGG>TGG		cornulin							97.0	76.0	83.0					1																	152382339		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382339C>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1219G>T	1.37:g.152382339C>A	ENSP00000271835:p.Gly407Trp						p.G407W	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1293	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		407					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1219G>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487162	0.63962	.	.	ENSG00000143536	ENST00000271835	T	0.04917	3.53	4.71	3.78	0.43462	.	0.628651	0.15103	N	0.280435	T	0.07369	0.0186	L	0.55990	1.75	0.09310	N	1	D	0.61697	0.99	P	0.58577	0.841	T	0.13845	-1.0494	10	0.72032	D	0.01	.	9.2338	0.37453	0.0:0.899:0.0:0.101	.	407	Q9UBG3	CRNN_HUMAN	W	407	ENSP00000271835:G407W	ENSP00000271835:G407W	G	-	1	0	CRNN	150648963	0.000000	0.05858	0.023000	0.16930	0.459000	0.32528	0.103000	0.15292	1.303000	0.44873	0.585000	0.79938	GGG		0.607	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		54	69	1	0	1.83081e-24	0.00361	3.27082e-24	54	69				
LCE2D	353141	broad.mit.edu	37	1	152636662	152636662	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:152636662G>A	ENST00000368784.1	+	2	136	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	27	Cys-rich.				keratinization (GO:0031424)			p.K27K(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACCTAAGTGTCCCCCCA	0.582																																							uc001fag.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)AAG>AAA		late cornified envelope 2D							113.0	119.0	117.0					1																	152636662		2203	4300	6503	SO:0001819	synonymous_variant	353141				keratinization			g.chr1:152636662G>A	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.81G>A	1.37:g.152636662G>A							p.K27K	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	136	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		27			Cys-rich.		A1L4M8	Silent	SNP	ENST00000368784.1	37	c.81G>A	CCDS1018.1																																																																																				0.582	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		60	96	0	0	0	0.00361	0	60	96				
LELP1	149018	broad.mit.edu	37	1	153177398	153177398	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:153177398A>T	ENST00000368747.1	+	2	325	c.215A>T	c.(214-216)cAg>cTg	p.Q72L		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	72	Cys/Pro-rich.							p.Q72L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTCCCCAGCCCTGCACC	0.622																																							uc001fbl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)CAG>CTG		late cornified envelope-like proline-rich 1							124.0	99.0	107.0					1																	153177398		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177398A>T		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.215A>T	1.37:g.153177398A>T	ENSP00000357736:p.Gln72Leu						p.Q72L	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	325	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		72			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.215A>T	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505033	0.26949	.	.	ENSG00000203784	ENST00000368747	.	.	.	3.72	0.341	0.15991	.	2.742550	0.01861	N	0.036595	T	0.05593	0.0147	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12477	-1.0546	8	0.15066	T	0.55	.	2.8826	0.05652	0.5205:0.2399:0.2396:0.0	.	72	Q5T871	LELP1_HUMAN	L	72	.	ENSP00000357736:Q72L	Q	+	2	0	LELP1	151444022	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	0.311000	0.19380	-0.123000	0.11745	0.459000	0.35465	CAG		0.622	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		37	36	0	0	0	0.003271	0	37	36				
PGLYRP3	114771	broad.mit.edu	37	1	153274952	153274952	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:153274952G>T	ENST00000290722.1	-	5	713	c.661C>A	c.(661-663)Cag>Aag	p.Q221K		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	221					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.Q221K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGACAGTCTGGCAGTCTGTG	0.478																																							uc001fbn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(661-663)CAG>AAG		peptidoglycan recognition protein 3 precursor							283.0	255.0	265.0					1																	153274952		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153274952G>T	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.661C>A	1.37:g.153274952G>T	ENSP00000290722:p.Gln221Lys						p.Q221K	NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	714	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		221					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.661C>A	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	0.924	-0.714874	0.03206	.	.	ENSG00000159527	ENST00000290722	T	0.16597	2.33	4.3	1.15	0.20763	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.654940	0.13658	N	0.371809	T	0.01905	0.0060	N	0.20986	0.625	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.46345	-0.9198	10	0.05525	T	0.97	-59.0461	3.45	0.07494	0.2289:0.0:0.5724:0.1987	.	221	Q96LB9	PGRP3_HUMAN	K	221	ENSP00000290722:Q221K	ENSP00000290722:Q221K	Q	-	1	0	PGLYRP3	151541576	0.387000	0.25188	0.175000	0.22980	0.030000	0.12068	0.393000	0.20817	0.441000	0.26529	-0.140000	0.14226	CAG		0.478	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		38	244	1	0	5.71845e-15	0.005524	9.28947e-15	38	244				
THBS3	7059	broad.mit.edu	37	1	155165670	155165670	+	Missense_Mutation	SNP	C	C	G	rs567801958		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155165670C>G	ENST00000368378.3	-	23	2853	c.2833G>C	c.(2833-2835)Gag>Cag	p.E945Q	RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.E474Q|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.E825Q|MUC1_ENST00000338684.5_5'Flank|MUC1_ENST00000462215.1_5'Flank|MUC1_ENST00000368393.3_5'Flank|MUC1_ENST00000438413.1_5'Flank|THBS3_ENST00000541576.1_Missense_Mutation_p.E342Q|MUC1_ENST00000457295.2_5'Flank|MUC1_ENST00000368392.3_5'Flank|RP11-263K19.4_ENST00000454348.1_RNA|MUC1_ENST00000368395.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	945					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E945Q(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGAATGGCTCAAAGTCCTCA	0.522																																							uc001fix.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(2833-2835)GAG>CAG		thrombospondin 3 precursor							145.0	142.0	143.0					1																	155165670		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155165670C>G	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2833G>C	1.37:g.155165670C>G	ENSP00000357362:p.Glu945Gln					RAG1AP1_uc010pey.1_Intron|MUC1_uc010pfc.1_5'Flank|MUC1_uc009wph.2_5'Flank|MUC1_uc010pfd.1_5'Flank|MUC1_uc010pfe.1_5'Flank|MUC1_uc010pff.1_5'Flank|MUC1_uc009wpi.2_5'Flank|MUC1_uc010pfg.1_5'Flank|MUC1_uc010pfh.1_5'Flank|MUC1_uc010pfi.1_5'Flank|MUC1_uc010pfj.1_5'Flank|MUC1_uc010pfk.1_5'Flank|MUC1_uc010pfl.1_5'Flank|MUC1_uc001fin.2_5'Flank|MUC1_uc009wpk.2_5'Flank|MUC1_uc001fip.2_5'Flank|MUC1_uc009wqg.2_5'Flank|MUC1_uc009wpo.2_5'Flank|MUC1_uc009wps.2_5'Flank|MUC1_uc009wpt.2_5'Flank|MUC1_uc001fic.2_5'Flank|MUC1_uc009wpu.2_5'Flank|MUC1_uc009wpq.2_5'Flank|MUC1_uc009wpv.2_5'Flank|MUC1_uc001fim.2_5'Flank|MUC1_uc001fib.2_5'Flank|MUC1_uc009wpw.2_5'Flank|MUC1_uc001fie.2_5'Flank|MUC1_uc009wpr.2_5'Flank|MUC1_uc001fig.2_5'Flank|MUC1_uc001fif.2_5'Flank|MUC1_uc009wpx.2_5'Flank|MUC1_uc001fid.2_5'Flank|MUC1_uc009wpj.2_5'Flank|MUC1_uc001fij.2_5'Flank|MUC1_uc009wpy.2_5'Flank|MUC1_uc010pfm.1_5'Flank|MUC1_uc001fiq.2_5'Flank|MUC1_uc009wpz.2_5'Flank|MUC1_uc010pfn.1_5'Flank|MUC1_uc009wqa.2_5'Flank|MUC1_uc010pfo.1_5'Flank|MUC1_uc010pfp.1_5'Flank|MUC1_uc001fii.2_5'Flank|MUC1_uc001fih.2_5'Flank|MUC1_uc001fia.2_5'Flank|MUC1_uc009wqc.2_5'Flank|MUC1_uc009wqd.2_5'Flank|MUC1_uc009wqb.2_5'Flank|MUC1_uc010pfq.1_5'Flank|MUC1_uc010pfr.1_5'Flank|MUC1_uc001fit.2_5'Flank|MUC1_uc009wqe.2_5'Flank|MUC1_uc001fil.2_5'Flank|MUC1_uc009wpm.2_5'Flank|MUC1_uc009wpp.2_5'Flank|MUC1_uc010pfs.1_5'Flank|MUC1_uc001fik.2_5'Flank|MUC1_uc001fio.2_5'Flank|MUC1_uc009wqf.2_5'Flank|MUC1_uc009wpl.2_5'Flank|MUC1_uc009wpn.2_5'Flank|MUC1_uc001fis.1_5'Flank|MUC1_uc010pft.1_5'Flank|MUC1_uc001fiv.1_5'Flank|MUC1_uc001fiw.1_5'Flank|THBS3_uc009wqi.2_Missense_Mutation_p.E936Q|THBS3_uc001fiz.2_Missense_Mutation_p.E908Q|THBS3_uc001fiy.2_Missense_Mutation_p.E474Q|THBS3_uc010pfu.1_Missense_Mutation_p.E825Q	p.E945Q	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		23	2856	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		945					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2833G>C	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577328	0.28092	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	T;D;T;D	0.97811	-1.39;-4.55;-1.48;-4.52	4.7	4.7	0.59300	.	0.502173	0.18969	N	0.126183	D	0.89448	0.6718	N	0.11427	0.14	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	D	0.85189	0.1008	10	0.19147	T	0.46	-26.0908	15.4941	0.75634	0.0:1.0:0.0:0.0	.	825;945;945;945	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	Q	945;342;825;474	ENSP00000357362:E945Q;ENSP00000444792:E342Q;ENSP00000392207:E825Q;ENSP00000437353:E474Q	ENSP00000357362:E945Q	E	-	1	0	THBS3	153432294	0.903000	0.30736	1.000000	0.80357	0.984000	0.73092	0.380000	0.20602	2.343000	0.79666	0.591000	0.81541	GAG		0.522	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		12	206	0	0	0	0.00245	0	12	206				
CLK2	1196	broad.mit.edu	37	1	155233067	155233067	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155233067C>A	ENST00000368361.4	-	13	1757	c.1442G>T	c.(1441-1443)cGc>cTc	p.R481L	SCAMP3_ENST00000355379.3_5'Flank|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.R479L|CLK2_ENST00000536801.1_Missense_Mutation_p.R481L|CLK2_ENST00000361168.5_Missense_Mutation_p.R480L|SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	481					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R481L(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCCCGAAGGCGGGCGAAGAA	0.567								Other conserved DNA damage response genes																															uc001fjy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)CGC>CTC	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							59.0	56.0	57.0					1																	155233067		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155233067C>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1442G>T	1.37:g.155233067C>A	ENSP00000357345:p.Arg481Leu					RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R480L|CLK2_uc001fjx.2_Missense_Mutation_p.R253L|CLK2_uc009wqm.2_Missense_Mutation_p.R481L	p.R481L	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		13	1732	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		481					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.1442G>T		.	.	.	.	.	.	.	.	.	.	.	9.976	1.226836	0.22542	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.11	5.11	0.69529	Protein kinase-like domain (1);	0.487714	0.24424	N	0.038645	T	0.04952	0.0133	N	0.13235	0.315	0.40518	D	0.980805	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.26815	-1.0092	10	0.25751	T	0.34	.	9.0311	0.36260	0.1636:0.6784:0.158:0.0	.	481;480	P49760;P49760-3	CLK2_HUMAN;.	L	480;481;479;253;481	ENSP00000354856:R480L;ENSP00000357345:R481L;ENSP00000347759:R479L;ENSP00000441023:R481L	ENSP00000347759:R479L	R	-	2	0	CLK2	153499691	0.998000	0.40836	1.000000	0.80357	0.744000	0.42396	0.582000	0.23834	2.815000	0.96918	0.561000	0.74099	CGC		0.567	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		23	20	1	0	6.44725e-10	0.002299	9.27922e-10	23	20				
DAP3	7818	broad.mit.edu	37	1	155699058	155699058	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155699058G>A	ENST00000368336.5	+	9	868	c.744G>A	c.(742-744)aaG>aaA	p.K248K	DAP3_ENST00000421487.2_Silent_p.K214K|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Silent_p.K207K|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Silent_p.K248K|DAP3_ENST00000471642.2_Silent_p.K207K	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	248					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.K248K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAGAGCTAAAGAGGCAAAGTT	0.488																																							uc001flq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(742-744)AAG>AAA		death-associated protein 3							154.0	137.0	143.0					1																	155699058		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155699058G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.744G>A	1.37:g.155699058G>A						DAP3_uc001flr.2_Silent_p.K248K|DAP3_uc001fls.2_Silent_p.K248K|DAP3_uc010pgl.1_Silent_p.K207K|DAP3_uc001flt.2_Silent_p.K214K|DAP3_uc001flu.2_Silent_p.K221K|DAP3_uc010pgm.1_Silent_p.K214K	p.K248K	NM_033657	NP_387506	P51398	RT29_HUMAN			9	913	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		248					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.744G>A	CCDS1120.1																																																																																				0.488	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		60	108	0	0	0	0.00361	0	60	108				
KIAA0907	22889	broad.mit.edu	37	1	155891679	155891679	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:155891679G>C	ENST00000368321.3	-	9	1008	c.985C>G	c.(985-987)Cag>Gag	p.Q329E	KIAA0907_ENST00000482337.1_5'UTR|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q329E|KIAA0907_ENST00000368319.3_Missense_Mutation_p.Q329E	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	329							RNA binding (GO:0003723)	p.Q329E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTATTAATCTGATTCACAAAT	0.368																																							uc001fmi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(985-987)CAG>GAG		hypothetical protein LOC22889							80.0	79.0	79.0					1																	155891679		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155891679G>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.985C>G	1.37:g.155891679G>C	ENSP00000357304:p.Gln329Glu					KIAA0907_uc001fmj.1_Missense_Mutation_p.Q329E|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q186E|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Missense_Mutation_p.Q329E	p.Q329E	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		9	1009	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		329					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.985C>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020777	0.75275	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	M	0.66297	2.02	0.58432	D	0.999998	P;P;P	0.41188	0.741;0.741;0.559	B;P;P	0.45538	0.387;0.484;0.484	T	0.63120	-0.6708	9	0.49607	T	0.09	-7.5874	18.1253	0.89584	0.0:0.0:1.0:0.0	.	329;329;329	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	E	329	.	ENSP00000357302:Q329E	Q	-	1	0	KIAA0907	154158303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.655000	0.83696	2.821000	0.97095	0.484000	0.47621	CAG		0.368	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		3	39	0	0	0	0.009096	0	3	39				
NTRK1	4914	broad.mit.edu	37	1	156846197	156846197	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:156846197G>A	ENST00000524377.1	+	14	1679	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	NTRK1_ENST00000368196.3_Silent_p.L540L|NTRK1_ENST00000392302.2_Silent_p.L510L|NTRK1_ENST00000358660.3_Silent_p.L543L	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L546L(1)|p.L510L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCCAGGCACTGAAGGAGGCGT	0.652			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1636-1638)CTG>CTA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						43.0	42.0	42.0					1																	156846197		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846197G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1638G>A	1.37:g.156846197G>A		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.L510L|NTRK1_uc009wsi.1_Silent_p.L245L|NTRK1_uc001fqi.1_Silent_p.L540L|NTRK1_uc009wsk.1_Silent_p.L543L	p.L546L	NM_002529	NP_002520	P04629	NTRK1_HUMAN			14	1694	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		546			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.1638G>A	CCDS1161.1																																																																																				0.652	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		12	30	0	0	0	0.000978	0	12	30				
CD5L	922	broad.mit.edu	37	1	157805936	157805936	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:157805936G>T	ENST00000368174.4	-	3	161	c.65C>A	c.(64-66)tCt>tAt	p.S22Y	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	22					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.S22Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGCACTCCAGATGGAGACGC	0.597																																							uc001frk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)TCT>TAT		CD5 molecule-like precursor							35.0	39.0	38.0					1																	157805936		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805936G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.65C>A	1.37:g.157805936G>T	ENSP00000357156:p.Ser22Tyr						p.S22Y	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	208	-	all_hematologic(112;0.0378)		22					A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.65C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	3.810	-0.039834	0.07497	.	.	ENSG00000073754	ENST00000368174	T	0.28255	1.62	4.85	0.474	0.16768	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.06371	0.0164	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35400	-0.9790	9	0.56958	D	0.05	.	3.4365	0.07448	0.1996:0.0:0.4227:0.3777	.	22	O43866	CD5L_HUMAN	Y	22	ENSP00000357156:S22Y	ENSP00000357156:S22Y	S	-	2	0	CD5L	156072560	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.739000	0.26173	0.249000	0.21456	-0.253000	0.11424	TCT		0.597	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		6	59	1	0	0.00116845	0.001168	0.0012964	6	59				
KIRREL	55243	broad.mit.edu	37	1	158064101	158064101	+	Splice_Site	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158064101A>G	ENST00000359209.6	+	14	1786		c.e14-1		KIRREL_ENST00000368173.3_Splice_Site|KIRREL_ENST00000368172.1_Splice_Site|KIRREL_ENST00000416935.2_Splice_Site|KIRREL_ENST00000360089.4_Splice_Site|KIRREL_ENST00000392272.2_Splice_Site			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)						excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.?(3)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCTGCTCCACAGTCGTTTAAG	0.617																																							uc001frn.3		NA																	3	Unknown(3)		lung(3)	ovary(1)	1						c.e14-2		kin of IRRE like precursor							43.0	38.0	40.0					1																	158064101		2203	4299	6502	SO:0001630	splice_region_variant	55243					integral to membrane		g.chr1:158064101A>G	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1720-1A>G	1.37:g.158064101A>G						KIRREL_uc010pib.1_Splice_Site_p.S474_splice|KIRREL_uc009wsq.2_Splice_Site_p.S410_splice|KIRREL_uc001fro.3_Splice_Site_p.S388_splice|uc001frp.2_5'Flank	p.S574_splice	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			14	2124	+	all_hematologic(112;0.0378)							Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Splice_Site	SNP	ENST00000359209.6	37	c.1720_splice	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	12.77	2.037418	0.35989	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0857	0.59140	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIRREL	156330725	1.000000	0.71417	0.992000	0.48379	0.114000	0.19823	8.424000	0.90267	1.964000	0.57103	0.459000	0.35465	.		0.617	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	Intron	4	23	0	0	0	0.009096	0	4	23				
CD1C	911	broad.mit.edu	37	1	158262102	158262102	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158262102C>A	ENST00000368170.3	+	3	836	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	186					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.P186H(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCACTTGCCCCCGATTTCTC	0.453																																							uc001fru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(556-558)CCC>CAC		CD1C antigen precursor							289.0	291.0	290.0					1																	158262102		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262102C>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.557C>A	1.37:g.158262102C>A	ENSP00000357152:p.Pro186His					CD1C_uc001frv.2_5'UTR	p.P186H	NM_001765	NP_001756	P29017	CD1C_HUMAN			3	849	+	all_hematologic(112;0.0378)		186			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.557C>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	13.38	2.219373	0.39201	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.08984	3.03	3.36	2.38	0.29361	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.35838	N	0.002954	T	0.16981	0.0408	M	0.89904	3.07	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03717	-1.1010	10	0.87932	D	0	.	5.5354	0.17007	0.0:0.8323:0.0:0.1677	.	186	P29017	CD1C_HUMAN	H	186	ENSP00000357152:P186H	ENSP00000357151:P186H	P	+	2	0	CD1C	156528726	0.125000	0.22332	0.217000	0.23759	0.032000	0.12392	0.410000	0.21098	0.915000	0.36847	0.644000	0.83932	CCC		0.453	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		160	362	1	0	1.11784e-71	0.00361	2.14113e-71	160	362				
OR10X1	128367	broad.mit.edu	37	1	158549326	158549326	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158549326C>T	ENST00000368150.1	-	1	363	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G122R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CCACCAAGTCCCAAGAAGAAG	0.468																																							uc010pin.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)GGA>AGA		olfactory receptor, family 10, subfamily X,							98.0	100.0	100.0					1																	158549326		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549326C>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.364G>A	1.37:g.158549326C>T	ENSP00000357132:p.Gly122Arg						p.G122R	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	364	-	all_hematologic(112;0.0378)		122			Helical; Name=3; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.364G>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607620	0.46527	.	.	ENSG00000186400	ENST00000368150	T	0.00408	7.54	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000203	T	0.00384	0.0012	L	0.61387	1.9	0.28149	N	0.929477	D	0.57899	0.981	P	0.60541	0.876	T	0.57665	-0.7772	10	0.38643	T	0.18	.	10.7834	0.46390	0.2956:0.7044:0.0:0.0	.	122	Q8NGY0	O10X1_HUMAN	R	122	ENSP00000357132:G122R	ENSP00000357132:G122R	G	-	1	0	OR10X1	156815950	0.000000	0.05858	1.000000	0.80357	0.524000	0.34500	0.357000	0.20199	2.579000	0.87056	0.557000	0.71058	GGA		0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		6	140	0	0	0	0.001984	0	6	140				
SPTA1	6708	broad.mit.edu	37	1	158596725	158596725	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158596725G>A	ENST00000368147.4	-	41	5917	c.5737C>T	c.(5737-5739)Ctg>Ttg	p.L1913L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1913					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.L1913L(2)		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)					GCCTTAGCCAGAGAAGGGGTC	0.438																																							uc001fst.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5737-5739)CTG>TTG		spectrin, alpha, erythrocytic 1							163.0	161.0	162.0					1																	158596725		1859	4097	5956	SO:0001819	synonymous_variant	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.chr1:158596725G>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.5737C>T	1.37:g.158596725G>A							p.L1913L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			41	5936	-	all_hematologic(112;0.0378)		1913			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5737C>T	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	277	0	0	0	0.00278	0	22	277				
SPTA1	6708	broad.mit.edu	37	1	158647625	158647625	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158647625C>A	ENST00000368147.4	-	7	993		c.e7-1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						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.?(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)					AGTCACATCCCTGCAGTCATT	0.493																																							uc001fst.1		NA																	1	Unknown(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.e7-1		spectrin, alpha, erythrocytic 1							91.0	87.0	88.0					1																	158647625		1992	4165	6157	SO:0001630	splice_region_variant	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.chr1:158647625C>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.813-1G>T	1.37:g.158647625C>A							p.R271_splice	NM_003126	NP_003117	P02549	SPTA1_HUMAN			7	1012	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.813_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950298	0.34377	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4709	0.84112	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156914249	1.000000	0.71417	0.997000	0.53966	0.140000	0.21249	7.085000	0.76875	2.509000	0.84616	0.655000	0.94253	.		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	37	81	1	0	9.14704e-12	0.00874	1.37832e-11	37	81				
OR6N2	81442	broad.mit.edu	37	1	158746535	158746535	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158746535G>A	ENST00000339258.1	-	1	890	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I297I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAGCTTTAATGATTTCCTTGT	0.408																																							uc010pir.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)ATC>ATT		olfactory receptor, family 6, subfamily N,							170.0	161.0	164.0					1																	158746535		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746535G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.891C>T	1.37:g.158746535G>A							p.I297I	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	891	-	all_hematologic(112;0.0378)		297			Cytoplasmic (Potential).		Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.891C>T	CCDS30906.1																																																																																				0.408	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			14	164	0	0	0	0.003163	0	14	164				
CASQ1	844	broad.mit.edu	37	1	160165750	160165750	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:160165750C>A	ENST00000368078.3	+	6	911	c.715C>A	c.(715-717)Cct>Act	p.P239T	CASQ1_ENST00000368079.3_Missense_Mutation_p.P233T|CASQ1_ENST00000467691.1_5'Flank			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	239					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.P233T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGGAAGAGCCTGTGACCAT	0.567																																							uc010pja.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(715-717)CCT>ACT		calsequestrin 1							97.0	97.0	97.0					1																	160165750		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160165750C>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.715C>A	1.37:g.160165750C>A	ENSP00000357057:p.Pro239Thr						p.P239T	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	972	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		239					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.715C>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505372	0.85282	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.80824	-1.42;-1.42	4.82	4.82	0.62117	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90577	0.4526	10	0.72032	D	0.01	.	17.1903	0.86877	0.0:1.0:0.0:0.0	.	239	P31415	CASQ1_HUMAN	T	233;239;154	ENSP00000357058:P233T;ENSP00000357057:P239T	ENSP00000357057:P239T	P	+	1	0	CASQ1	158432374	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.080000	0.76837	2.660000	0.90430	0.555000	0.69702	CCT		0.567	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		34	69	1	0	6.00712e-18	0.002445	1.01771e-17	34	69				
NCSTN	23385	broad.mit.edu	37	1	160326401	160326401	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:160326401C>T	ENST00000294785.5	+	15	1776	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	NCSTN_ENST00000368063.1_Missense_Mutation_p.L531F|NCSTN_ENST00000368065.4_Missense_Mutation_p.L293F|NCSTN_ENST00000535857.1_Missense_Mutation_p.L413F|NCSTN_ENST00000392212.4_Missense_Mutation_p.L531F	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	551					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.L551F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACGGGCCTCTTCAACATTA	0.512																																							uc001fvx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1651-1653)CTT>TTT		nicastrin precursor							158.0	160.0	159.0					1																	160326401		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160326401C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1651C>T	1.37:g.160326401C>T	ENSP00000294785:p.Leu551Phe					NCSTN_uc001fvy.2_Missense_Mutation_p.L531F|NCSTN_uc010pjf.1_Missense_Mutation_p.L413F|NCSTN_uc001fvz.2_Missense_Mutation_p.L331F|NCSTN_uc010pjg.1_Missense_Mutation_p.L293F	p.L551F	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	1775	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		551			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1651C>T	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766896	0.49574	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065	T;T;T;T	0.78481	-1.18;-1.18;-0.2;-1.18	5.72	5.72	0.89469	.	0.241339	0.43416	D	0.000577	T	0.71221	0.3314	L	0.47716	1.5	0.34302	D	0.684472	D;P;B	0.65815	0.995;0.666;0.346	P;B;B	0.60068	0.868;0.386;0.163	T	0.67457	-0.5666	10	0.10111	T	0.7	-15.4626	11.8564	0.52439	0.0:0.9198:0.0:0.0802	.	413;531;551	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	F	551;531;413;258;531;293	ENSP00000294785:L551F;ENSP00000357042:L531F;ENSP00000442605:L413F;ENSP00000376047:L531F	ENSP00000294785:L551F	L	+	1	0	NCSTN	158593025	0.229000	0.23729	1.000000	0.80357	0.966000	0.64601	2.095000	0.41729	2.699000	0.92147	0.650000	0.86243	CTT		0.512	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		88	158	0	0	0	0.00361	0	88	158				
NR1I3	9970	broad.mit.edu	37	1	161205726	161205726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:161205726G>T	ENST00000367982.4	-	3	304	c.149C>A	c.(148-150)gCt>gAt	p.A50D	NR1I3_ENST00000512372.1_Missense_Mutation_p.A21D|NR1I3_ENST00000505005.1_Missense_Mutation_p.A50D|NR1I3_ENST00000442691.2_Missense_Mutation_p.A50D|NR1I3_ENST00000428574.2_Missense_Mutation_p.A50D|NR1I3_ENST00000367981.3_Missense_Mutation_p.A21D|NR1I3_ENST00000506209.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367980.2_Missense_Mutation_p.A50D|NR1I3_ENST00000515452.1_Missense_Mutation_p.A50D|NR1I3_ENST00000367985.3_Missense_Mutation_p.A50D|NR1I3_ENST00000511676.1_Missense_Mutation_p.A21D|NR1I3_ENST00000504010.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367984.4_Missense_Mutation_p.A50D|NR1I3_ENST00000511944.1_Missense_Mutation_p.A50D|NR1I3_ENST00000508387.1_Missense_Mutation_p.A21D|NR1I3_ENST00000515621.1_De_novo_Start_OutOfFrame|NR1I3_ENST00000437437.2_Missense_Mutation_p.A21D|NR1I3_ENST00000502985.1_Missense_Mutation_p.A50D|NR1I3_ENST00000367983.4_Missense_Mutation_p.A50D|NR1I3_ENST00000511748.1_Missense_Mutation_p.A21D|NR1I3_ENST00000508740.1_Missense_Mutation_p.A21D|NR1I3_ENST00000367979.2_Missense_Mutation_p.A50D|NR1I3_ENST00000412844.2_Missense_Mutation_p.A21D			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	50					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A50D(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACAGCTTCCAGCAAAGGGGCA	0.542																																							uc001fzx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(148-150)GCT>GAT		constitutive androstane receptor isoform 2							102.0	91.0	94.0					1																	161205726		2203	4300	6503	SO:0001583	missense	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161205726G>T	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.149C>A	1.37:g.161205726G>T	ENSP00000356961:p.Ala50Asp					TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A50D|NR1I3_uc001fzg.2_Missense_Mutation_p.A21D|NR1I3_uc001fzh.2_Missense_Mutation_p.A21D|NR1I3_uc001fzi.2_Missense_Mutation_p.A21D|NR1I3_uc001fzj.2_Missense_Mutation_p.A21D|NR1I3_uc001fzk.2_Missense_Mutation_p.A21D|NR1I3_uc001fzl.2_Missense_Mutation_p.A21D|NR1I3_uc001fzm.2_Translation_Start_Site|NR1I3_uc001fzn.2_Translation_Start_Site|NR1I3_uc009wug.2_Translation_Start_Site|NR1I3_uc001fzp.2_Missense_Mutation_p.A50D|NR1I3_uc001fzo.2_Translation_Start_Site|NR1I3_uc001fzq.2_Missense_Mutation_p.A50D|NR1I3_uc001fzr.2_Missense_Mutation_p.A50D|NR1I3_uc001fzs.2_Translation_Start_Site|NR1I3_uc001fzt.2_Translation_Start_Site|NR1I3_uc001fzu.2_Missense_Mutation_p.A21D|NR1I3_uc001fzv.2_Missense_Mutation_p.A21D|NR1I3_uc001fzw.2_Missense_Mutation_p.A50D|NR1I3_uc001fzy.2_Missense_Mutation_p.A50D|NR1I3_uc001fzz.2_Missense_Mutation_p.A50D|NR1I3_uc001gaa.2_Missense_Mutation_p.A50D|NR1I3_uc001gab.2_Missense_Mutation_p.A50D|NR1I3_uc001gac.2_Missense_Mutation_p.A21D|NR1I3_uc010pkm.1_Missense_Mutation_p.A21D|NR1I3_uc010pkn.1_Missense_Mutation_p.A50D	p.A50D	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	352	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		50			NR C4-type.|Nuclear receptor.		E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.149C>A	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827800	0.16749	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000508387;ENST00000504010;ENST00000511676;ENST00000502985;ENST00000367981;ENST00000511944;ENST00000511748;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.47	2.2	0.27929	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.486287	0.21230	N	0.077997	T	0.80914	0.4715	N	0.03194	-0.395	0.39692	D	0.971062	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30068	0.005;0.004;0.008;0.001;0.034;0.001;0.001;0.001;0.008;0.012;0.267;0.001;0.01;0.015;0.0;0.002;0.006;0.008;0.008	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30401	0.008;0.02;0.022;0.008;0.034;0.013;0.006;0.013;0.034;0.018;0.115;0.013;0.023;0.034;0.008;0.006;0.023;0.022;0.034	T	0.71702	-0.4513	9	0.11485	T	0.65	.	8.9754	0.35932	0.0805:0.0:0.6489:0.2705	.	50;21;21;50;50;50;50;50;50;21;50;50;21;21;21;21;21;21;50	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q6GZ70;Q6GZ72;Q4U0F0;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.;.	D	21;50;50;21;50;21;50;50;21;50;21;21;21;50;21;50;21;50;50;50;21;50	ENSP00000425417:A21D;ENSP00000356962:A50D;ENSP00000356959:A50D;ENSP00000407446:A21D;ENSP00000406493:A50D;ENSP00000399361:A21D;ENSP00000412672:A50D;ENSP00000424934:A50D;ENSP00000423666:A21D;ENSP00000356961:A50D;ENSP00000422982:A21D;ENSP00000424345:A21D;ENSP00000427175:A21D;ENSP00000421374:A50D;ENSP00000356960:A21D;ENSP00000426292:A50D;ENSP00000427600:A21D;ENSP00000356963:A50D;ENSP00000356965:A50D;ENSP00000356958:A50D;ENSP00000423089:A21D;ENSP00000427034:A50D	ENSP00000356958:A50D	A	-	2	0	NR1I3	159472350	0.019000	0.18553	0.992000	0.48379	0.963000	0.63663	1.255000	0.32909	0.678000	0.31325	0.467000	0.42956	GCT		0.542	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			10	70	1	0	2.80697e-09	0.000978	3.93692e-09	10	70				
FCGR2A	2212	broad.mit.edu	37	1	161479793	161479793	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:161479793G>T	ENST00000271450.6	+	4	586	c.548G>T	c.(547-549)gGt>gTt	p.G183V	FCGR2A_ENST00000367972.4_Missense_Mutation_p.G182V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	183	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G182V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGTCACAGTGGTGATTACCAC	0.498																																							uc001gan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(547-549)GGT>GTT		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						131.0	114.0	120.0					1																	161479793		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479793G>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.548G>T	1.37:g.161479793G>T	ENSP00000271450:p.Gly183Val					FCGR2A_uc001gam.2_Missense_Mutation_p.G182V|FCGR2A_uc001gao.2_RNA	p.G183V	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	601	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		183			Extracellular (Potential).|Ig-like C2-type 2.		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.548G>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	18.58	3.654883	0.67472	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.32515	1.45;1.45	2.65	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.54415	0.1857	H	0.95294	3.65	0.43091	D	0.994769	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64702	-0.6345	9	0.87932	D	0	.	8.953	0.35801	0.0:0.0:1.0:0.0	.	183;182	P12318;P12318-2	FCG2A_HUMAN;.	V	182;183	ENSP00000356949:G182V;ENSP00000271450:G183V	ENSP00000271450:G183V	G	+	2	0	FCGR2A	159746417	0.996000	0.38824	0.707000	0.30419	0.590000	0.36582	3.739000	0.55075	1.777000	0.52277	0.555000	0.69702	GGT		0.498	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		24	100	1	0	2.44723e-14	0.004656	3.90543e-14	24	100				
FCRLA	84824	broad.mit.edu	37	1	161680550	161680550	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:161680550C>T	ENST00000236938.6	+	2	373	c.131C>T	c.(130-132)gCt>gTt	p.A44V	FCRLA_ENST00000540926.1_Splice_Site_p.A33V|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Splice_Site_p.A44V|FCRLA_ENST00000367953.3_Splice_Site_p.A33V|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Splice_Site_p.A27V|FCRLA_ENST00000309691.6_Splice_Site_p.A27V|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Splice_Site_p.A50V|FCRLA_ENST00000367949.2_Splice_Site_p.A44V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Splice_Site_p.A4V	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	27					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.A27V(1)|p.A50V(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCCTCTTCAGCTGCCAGTTTT	0.527																																							uc001gbe.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(148-150)GCT>GTT		Fc receptor-like and mucin-like 1							57.0	51.0	53.0					1																	161680550		2203	4300	6503	SO:0001630	splice_region_variant	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161680550C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.131-1C>T	1.37:g.161680550C>T						FCRLA_uc001gbd.2_Missense_Mutation_p.A44V|FCRLA_uc001gbf.2_Missense_Mutation_p.A44V|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.A44V|FCRLA_uc009wuq.2_Intron	p.A50V	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		3	391	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.149C>T	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407221	0.42715	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000367949;ENST00000540926;ENST00000349527;ENST00000309691;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T	0.62105	5.08;5.61;3.84;0.05;5.26;3.35;3.93;5.69;0.14	4.59	3.61	0.41365	.	0.000000	0.47852	D	0.000207	T	0.64670	0.2619	M	0.61703	1.905	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;0.989;0.992	D;D;P;P	0.74674	0.984;0.984;0.783;0.856	T	0.53201	-0.8472	10	0.56958	D	0.05	.	10.0972	0.42482	0.0:0.7964:0.2036:0.0	.	44;44;50;44	A6NL20;G3V1J2;A6NC03;Q7L513-9	.;.;.;.	V	44;50;44;44;33;27;27;33;4	ENSP00000236938:A44V;ENSP00000356936:A50V;ENSP00000439838:A44V;ENSP00000356926:A44V;ENSP00000446380:A33V;ENSP00000294798:A27V;ENSP00000309596:A27V;ENSP00000356930:A33V;ENSP00000356927:A4V	ENSP00000236938:A44V	A	+	2	0	FCRLA	159947174	0.993000	0.37304	0.684000	0.30055	0.668000	0.39293	1.727000	0.38095	2.542000	0.85734	0.655000	0.94253	GCT		0.527	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	Missense_Mutation	4	60	0	0	0	0.000602	0	4	60				
NOS1AP	9722	broad.mit.edu	37	1	162337164	162337164	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:162337164C>A	ENST00000361897.5	+	10	1830	c.1428C>A	c.(1426-1428)cgC>cgA	p.R476R	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Silent_p.R471R|NOS1AP_ENST00000493151.1_Silent_p.R181R|RP11-565P22.6_ENST00000431696.1_Intron	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	476					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.R476R(2)|p.R181R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCGAGGAGCGCGACTCGTGGT	0.657																																							uc001gbv.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(2)|upper_aerodigestive_tract(1)	3						c.(1426-1428)CGC>CGA		nitric oxide synthase 1 (neuronal) adaptor							21.0	19.0	20.0					1																	162337164		2202	4299	6501	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162337164C>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1428C>A	1.37:g.162337164C>A						NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.R471R|NOS1AP_uc009wut.1_Silent_p.R181R	p.R476R	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		10	1815	+	all_hematologic(112;0.203)		476					B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.1428C>A	CCDS1237.1																																																																																				0.657	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		6	13	1	0	0.00116845	0.001168	0.0012964	6	13				
LMX1A	4009	broad.mit.edu	37	1	165173231	165173231	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:165173231G>A	ENST00000342310.3	-	9	1417	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	LMX1A_ENST00000294816.2_Silent_p.L345L|LMX1A_ENST00000367893.4_Silent_p.L345L|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	345					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L345L(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCAGGTTACTGAGGGAGGTGT	0.507																																							uc001gcy.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(1033-1035)CTC>CTT		LIM homeobox transcription factor 1, alpha							110.0	104.0	106.0					1																	165173231		2203	4300	6503	SO:0001819	synonymous_variant	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165173231G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1035C>T	1.37:g.165173231G>A						LMX1A_uc001gcz.1_Silent_p.L345L|LMX1A_uc001gcw.1_Silent_p.L63L|LMX1A_uc001gcx.1_Silent_p.L96L	p.L345L	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			8	1256	-	all_hematologic(923;0.248)		345					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	c.1035C>T	CCDS1247.1																																																																																				0.507	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		8	114	0	0	0	0.004482	0	8	114				
ILDR2	387597	broad.mit.edu	37	1	166892009	166892009	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:166892009C>A	ENST00000271417.3	-	8	1087	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	ILDR2_ENST00000469934.2_Missense_Mutation_p.E344D|ILDR2_ENST00000526687.1_Missense_Mutation_p.E236D|ILDR2_ENST00000525740.1_Missense_Mutation_p.E217D|ILDR2_ENST00000529071.1_Missense_Mutation_p.E325D|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.E285D	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	344					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E344D(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGCTGTCCTCCTCATGTAGGG	0.468																																							uc001gdx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1030-1032)GAG>GAT		immunoglobulin-like domain containing receptor							142.0	132.0	136.0					1																	166892009		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166892009C>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1032G>T	1.37:g.166892009C>A	ENSP00000271417:p.Glu344Asp						p.E344D	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			8	1088	-			344			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.1032G>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	8.968	0.972348	0.18736	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.78816	0.46;-1.21;0.5;0.47;-1.21;-0.19	5.24	-7.92	0.01160	.	0.218297	0.47093	N	0.000251	T	0.24890	0.0604	N	0.25286	0.73	0.19575	N	0.999967	B	0.06786	0.001	B	0.06405	0.002	T	0.41251	-0.9519	10	0.18276	T	0.48	.	0.3263	0.00311	0.251:0.2618:0.166:0.3211	.	344	Q71H61	ILDR2_HUMAN	D	344;217;344;325;236;285	ENSP00000271417:E344D;ENSP00000436120:E217D;ENSP00000437008:E344D;ENSP00000436882:E325D;ENSP00000434273:E236D;ENSP00000432750:E285D	ENSP00000271417:E344D	E	-	3	2	ILDR2	165158633	0.017000	0.18338	0.057000	0.19452	0.959000	0.62525	-1.381000	0.02549	-1.625000	0.01554	-0.264000	0.10439	GAG		0.468	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		65	115	1	0	3.61411e-23	0.00361	6.39739e-23	65	115				
DCAF6	55827	broad.mit.edu	37	1	167956802	167956802	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:167956802G>A	ENST00000312263.6	+	5	712	c.508G>A	c.(508-510)Gat>Aat	p.D170N	DCAF6_ENST00000432587.2_Missense_Mutation_p.D139N|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Missense_Mutation_p.D170N|DCAF6_ENST00000367843.3_Missense_Mutation_p.D170N	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	170					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.D170N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TAGGTGGTTTGATACACGCAT	0.313																																							uc001gew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(508-510)GAT>AAT		IQ motif and WD repeats 1 isoform b							96.0	91.0	92.0					1																	167956802		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167956802G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.508G>A	1.37:g.167956802G>A	ENSP00000311949:p.Asp170Asn					DCAF6_uc001gev.2_Missense_Mutation_p.D170N|DCAF6_uc001gex.2_Missense_Mutation_p.D170N|DCAF6_uc010plk.1_Missense_Mutation_p.D139N|DCAF6_uc001gey.2_Missense_Mutation_p.D23N	p.D170N	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			5	750	+			170			WD 3.		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.508G>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437535	0.96168	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	M	0.87180	2.865	0.49798	D	0.999825	D;D;D;D	0.89917	0.997;0.999;1.0;0.995	D;D;D;D	0.97110	0.989;0.997;1.0;0.967	D	0.92989	0.6413	8	.	.	.	.	18.8301	0.92135	0.0:0.0:1.0:0.0	.	139;170;170;170	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	N	170;139;170;170	ENSP00000356817:D170N;ENSP00000396238:D139N;ENSP00000311949:D170N;ENSP00000356814:D170N	.	D	+	1	0	DCAF6	166223426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.198000	0.94994	2.455000	0.83008	0.585000	0.79938	GAT		0.313	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		9	59	0	0	0	0.008291	0	9	59				
FASLG	356	broad.mit.edu	37	1	172628540	172628540	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:172628540C>A	ENST00000367721.2	+	1	383	c.199C>A	c.(199-201)Ccg>Acg	p.P67T	FASLG_ENST00000340030.3_Missense_Mutation_p.P67T	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	67	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.P67T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						gcctccactaccgctgccacc	0.622																																					Ovarian(28;486 876 30334 44033)	Ovarian(28;486 876 30334 44033)	uc001gis.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(199-201)CCG>ACG		fas ligand							91.0	83.0	86.0					1																	172628540		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628540C>A	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.199C>A	1.37:g.172628540C>A	ENSP00000356694:p.Pro67Thr					FASLG_uc001git.2_Missense_Mutation_p.P67T	p.P67T	NM_000639	NP_000630	P48023	TNFL6_HUMAN			1	356	+			67			Pro-rich.|Cytoplasmic (Potential).		Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.199C>A	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996800	0.19043	.	.	ENSG00000117560	ENST00000340030;ENST00000367721	T;T	0.62941	0.55;-0.01	4.1	3.14	0.36123	.	0.068856	0.56097	D	0.000027	T	0.27241	0.0668	N	0.24115	0.695	0.09310	N	1	B;B	0.19331	0.035;0.02	B;B	0.17098	0.017;0.007	T	0.24941	-1.0146	10	0.59425	D	0.04	-9.4366	10.0841	0.42408	0.2098:0.7902:0.0:0.0	.	67;67	P48023-2;P48023	.;TNFL6_HUMAN	T	67	ENSP00000344739:P67T;ENSP00000356694:P67T	ENSP00000344739:P67T	P	+	1	0	FASLG	170895163	0.002000	0.14202	0.002000	0.10522	0.036000	0.12997	1.402000	0.34600	1.012000	0.39366	0.563000	0.77884	CCG		0.622	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			5	20	1	0	0.00116845	0.001168	0.0012964	5	20				
ANKRD45	339416	broad.mit.edu	37	1	173594012	173594012	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:173594012G>C	ENST00000333279.2	-	5	704	c.644C>G	c.(643-645)aCa>aGa	p.T215R		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	231								p.T215R(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GGAAGCTTCTGTATGGGTTTC	0.378																																							uc001gja.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(643-645)ACA>AGA		ankyrin repeat domain 45							117.0	112.0	114.0					1																	173594012		2203	4300	6503	SO:0001583	missense	339416							g.chr1:173594012G>C		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.644C>G	1.37:g.173594012G>C	ENSP00000331268:p.Thr215Arg						p.T215R	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN			5	705	-			231					A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	c.644C>G	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.821648	0.00589	.	.	ENSG00000183831	ENST00000333279	T	0.13778	2.56	5.99	-0.0373	0.13885	.	1.255340	0.05873	N	0.625003	T	0.01730	0.0055	N	0.17082	0.46	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.43475	-0.9389	10	0.09843	T	0.71	-11.0228	4.1954	0.10441	0.3094:0.0:0.4474:0.2432	.	231	Q5TZF3	ANR45_HUMAN	R	215	ENSP00000331268:T215R	ENSP00000331268:T215R	T	-	2	0	ANKRD45	171860635	0.001000	0.12720	0.000000	0.03702	0.045000	0.14185	0.399000	0.20916	0.284000	0.22305	-0.140000	0.14226	ACA		0.378	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		6	72	0	0	0	0.001168	0	6	72				
TNR	7143	broad.mit.edu	37	1	175372526	175372526	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:175372526C>A	ENST00000367674.2	-	4	1434	c.726G>T	c.(724-726)cgG>cgT	p.R242R	TNR_ENST00000263525.2_Silent_p.R242R			Q92752	TENR_HUMAN	tenascin R	242	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R242R(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCAGAGCCCCCGGGAGCTGC	0.642																																							uc001gkp.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(724-726)CGG>CGT		tenascin R precursor							89.0	77.0	81.0					1																	175372526		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372526C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.726G>T	1.37:g.175372526C>A						TNR_uc009wwu.1_Silent_p.R242R|TNR_uc010pmz.1_Silent_p.R242R	p.R242R	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	807	-	Renal(580;0.146)		242			Cys-rich.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.726G>T	CCDS1318.1																																																																																				0.642	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		39	44	1	0	1.30998e-17	0.005524	2.20961e-17	39	44				
RFWD2	64326	broad.mit.edu	37	1	176105681	176105681	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176105681T>C	ENST00000367669.3	-	7	1348	c.834A>G	c.(832-834)caA>caG	p.Q278Q	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	278					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.Q278Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGTTCCAGTTGCTGCAGAT	0.333																																					Ovarian(134;1413 1765 5706 35534 51541)	Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)CAA>CAG		ring finger and WD repeat domain 2 isoform a							79.0	74.0	76.0					1																	176105681		2202	4300	6502	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176105681T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.834A>G	1.37:g.176105681T>C						RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Silent_p.Q38Q|RFWD2_uc009wwv.2_Silent_p.Q38Q|RFWD2_uc001gkt.1_Intron	p.Q278Q	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			7	1090	-			278			Potential.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.834A>G	CCDS30944.1																																																																																				0.333	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		9	25	0	0	0	0.008291	0	9	25				
PAPPA2	60676	broad.mit.edu	37	1	176564576	176564576	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176564576C>G	ENST00000367662.3	+	3	3000	c.1836C>G	c.(1834-1836)tgC>tgG	p.C612W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.C612W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	612	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C612W(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGGTGACTGCCGCCTGCAGG	0.587																																							uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1834-1836)TGC>TGG		pappalysin 2 isoform 1							70.0	76.0	74.0					1																	176564576		2102	4227	6329	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564576C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1836C>G	1.37:g.176564576C>G	ENSP00000356634:p.Cys612Trp					PAPPA2_uc001gky.1_Missense_Mutation_p.C612W|PAPPA2_uc009www.2_RNA	p.C612W	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	3000	+			612			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1836C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959415	0.53400	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.99888	-7.54;-7.54	5.42	3.54	0.40534	Notch domain (2);	0.049352	0.85682	D	0.000000	D	0.99764	0.9904	M	0.67397	2.05	0.80722	D	1	D;P	0.60160	0.987;0.838	D;P	0.64687	0.928;0.635	D	0.97250	0.9897	10	0.87932	D	0	-18.0026	9.1117	0.36732	0.0:0.7736:0.0:0.2264	.	612;612	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	W	612	ENSP00000356634:C612W;ENSP00000356633:C612W	ENSP00000356633:C612W	C	+	3	2	PAPPA2	174831199	0.981000	0.34729	1.000000	0.80357	0.963000	0.63663	0.282000	0.18829	1.291000	0.44653	0.650000	0.86243	TGC		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			4	77	0	0	0	0.001984	0	4	77				
PAPPA2	60676	broad.mit.edu	37	1	176668331	176668331	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176668331A>G	ENST00000367662.3	+	8	4006	c.2842A>G	c.(2842-2844)Aca>Gca	p.T948A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	948					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T948A(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCTGCCCCACAGAAGGCTG	0.612																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2842-2844)ACA>GCA		pappalysin 2 isoform 1							98.0	99.0	99.0					1																	176668331		1981	4136	6117	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668331A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2842A>G	1.37:g.176668331A>G	ENSP00000356634:p.Thr948Ala					PAPPA2_uc009www.2_RNA	p.T948A	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	4006	+			948					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2842A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	3.806	-0.040610	0.07497	.	.	ENSG00000116183	ENST00000367662	T	0.01495	4.83	4.96	-6.97	0.01616	Fibronectin, type III (2);	0.684752	0.15109	N	0.280084	T	0.00666	0.0022	N	0.08118	0	0.24821	N	0.992586	B	0.02656	0.0	B	0.04013	0.001	T	0.41610	-0.9499	10	0.05833	T	0.94	1.3113	4.1512	0.10238	0.4049:0.361:0.1494:0.0847	.	948	Q9BXP8	PAPP2_HUMAN	A	948	ENSP00000356634:T948A	ENSP00000356634:T948A	T	+	1	0	PAPPA2	174934954	0.139000	0.22563	0.001000	0.08648	0.958000	0.62258	0.199000	0.17237	-1.912000	0.01081	-0.899000	0.02877	ACA		0.612	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			8	142	0	0	0	0.004482	0	8	142				
PAPPA2	60676	broad.mit.edu	37	1	176679225	176679225	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176679225G>C	ENST00000367662.3	+	11	4728	c.3564G>C	c.(3562-3564)ttG>ttC	p.L1188F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1188					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1188F(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAGGATACTTGGATCAATGGG	0.453																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3562-3564)TTG>TTC		pappalysin 2 isoform 1							126.0	122.0	124.0					1																	176679225		1894	4127	6021	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176679225G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3564G>C	1.37:g.176679225G>C	ENSP00000356634:p.Leu1188Phe					PAPPA2_uc009www.2_RNA	p.L1188F	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			11	4728	+			1188					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3564G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135695	0.37728	.	.	ENSG00000116183	ENST00000367662	T	0.48201	0.82	5.76	4.84	0.62591	.	0.822818	0.11124	N	0.597084	T	0.64405	0.2595	M	0.83603	2.65	0.80722	D	1	P	0.52692	0.955	P	0.53450	0.726	T	0.64462	-0.6402	10	0.72032	D	0.01	-0.4601	10.7771	0.46356	0.0711:0.1334:0.7955:0.0	.	1188	Q9BXP8	PAPP2_HUMAN	F	1188	ENSP00000356634:L1188F	ENSP00000356634:L1188F	L	+	3	2	PAPPA2	174945848	0.993000	0.37304	0.935000	0.37517	0.030000	0.12068	1.484000	0.35508	1.414000	0.47017	-0.175000	0.13238	TTG		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			39	97	0	0	0	0.007835	0	39	97				
PAPPA2	60676	broad.mit.edu	37	1	176769207	176769207	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:176769207G>T	ENST00000367662.3	+	21	6305	c.5141G>T	c.(5140-5142)tGc>tTc	p.C1714F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1714	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1714F(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCATTGTGTGCACTGGCCGG	0.502																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5140-5142)TGC>TTC		pappalysin 2 isoform 1							128.0	123.0	125.0					1																	176769207		1933	4140	6073	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176769207G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5141G>T	1.37:g.176769207G>T	ENSP00000356634:p.Cys1714Phe					PAPPA2_uc009www.2_RNA	p.C1714F	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			21	6305	+			1714			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5141G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196054	0.78902	.	.	ENSG00000116183	ENST00000367662	T	0.10288	2.89	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04537	-1.0944	10	0.66056	D	0.02	-17.4853	17.438	0.87558	0.0:0.0:1.0:0.0	.	1714	Q9BXP8	PAPP2_HUMAN	F	1714	ENSP00000356634:C1714F	ENSP00000356634:C1714F	C	+	2	0	PAPPA2	175035830	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.863000	0.69568	2.861000	0.98227	0.650000	0.86243	TGC		0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			16	232	1	0	1.67942e-08	0.006122	2.29485e-08	16	232				
BRINP2	57795	broad.mit.edu	37	1	177250431	177250432	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:177250431_177250432CC>AG	ENST00000361539.4	+	8	2431_2432	c.2119_2120CC>AG	c.(2119-2121)CCa>AGa	p.P707R	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	707					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.P707R(1)									GTTGGACTACCCATATACTCAA	0.5																																							uc001glf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2119-2121)CCA>AGA		family with sequence similarity 5, member B																																				SO:0001583	missense	57795					extracellular region		g.chr1:177250431_177250432CC>AG		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	Exception_encountered	1.37:g.177250431_177250432delinsAG	ENSP00000354481:p.Pro707Arg					FAM5B_uc001glg.2_Missense_Mutation_p.P602R	p.P707R	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2431_2432	+			707					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	DNP	ENST00000361539.4	37	c.2119_2120CC>AG	CCDS1320.1																																																																																				0.500	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		55	159	0	0	0	0.004672	0	55	159				
TOR3A	64222	broad.mit.edu	37	1	179054768	179054768	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:179054768G>A	ENST00000367627.3	+	3	1131	c.379G>A	c.(379-381)Gag>Aag	p.E127K	TOR3A_ENST00000352445.6_Missense_Mutation_p.E127K	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	127					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E127K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTAGGCTTAGAGTGGGACCT	0.542																																							uc001gmd.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(379-381)GAG>AAG		torsin family 3, member A precursor							146.0	153.0	151.0					1																	179054768		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179054768G>A	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.379G>A	1.37:g.179054768G>A	ENSP00000356599:p.Glu127Lys					TOR3A_uc010pnd.1_Intron	p.E127K	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN			3	531	+			127					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.379G>A	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021571	0.35701	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.47177	0.85;0.85;0.85	5.57	0.572	0.17357	.	0.549918	0.20993	N	0.082000	T	0.31358	0.0794	L	0.41236	1.265	0.09310	N	0.999999	B	0.16166	0.016	B	0.16289	0.015	T	0.15925	-1.0420	10	0.23891	T	0.37	-2.0292	5.7247	0.18006	0.3462:0.1255:0.5283:0.0	.	127	Q9H497	TOR3A_HUMAN	K	127;127;19	ENSP00000356599:E127K;ENSP00000335351:E127K;ENSP00000410195:E19K	ENSP00000335351:E127K	E	+	1	0	TOR3A	177321391	0.816000	0.29132	0.000000	0.03702	0.453000	0.32348	2.150000	0.42254	-0.136000	0.11475	0.561000	0.74099	GAG		0.542	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		17	287	0	0	0	0.00499	0	17	287				
AXDND1	126859	broad.mit.edu	37	1	179339140	179339140	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:179339140T>C	ENST00000367618.3	+	4	688	c.301T>C	c.(301-303)Tgg>Cgg	p.W101R	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.W101R	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	101								p.W101R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGACCATGTCTGGCATCACCC	0.423																																							uc001gmo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(301-303)TGG>CGG		hypothetical protein LOC126859 isoform 1							80.0	73.0	75.0					1																	179339140		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179339140T>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.301T>C	1.37:g.179339140T>C	ENSP00000356590:p.Trp101Arg					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_5'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.W101R	p.W101R	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			4	428	+			101					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.301T>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805184	0.70682	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000507383;ENST00000457238;ENST00000508285;ENST00000511889;ENST00000434088	T;T;T	0.79352	-0.39;-1.26;-0.01	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.85758	0.5771	M	0.65498	2.005	0.39583	D	0.969465	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87766	0.2602	10	0.87932	D	0	-16.8437	11.6187	0.51104	0.0:0.0:0.0:1.0	.	59;101	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	R	59;101;59;59;101;101;59;35	ENSP00000356590:W101R;ENSP00000416712:W101R;ENSP00000391716:W35R	ENSP00000353471:W59R	W	+	1	0	AXDND1	177605763	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.577000	0.60922	1.994000	0.58287	0.472000	0.43445	TGG		0.423	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		6	43	0	0	0	0.001168	0	6	43				
QSOX1	5768	broad.mit.edu	37	1	180159623	180159623	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:180159623A>G	ENST00000367602.3	+	10	1270	c.1196A>G	c.(1195-1197)cAt>cGt	p.H399R	QSOX1_ENST00000367600.5_Missense_Mutation_p.H399R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	399	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.H399R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTGAGCCGCATTTCCGGGGC	0.562																																							uc001gnz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1195-1197)CAT>CGT		quiescin Q6 sulfhydryl oxidase 1 isoform a							158.0	143.0	148.0					1																	180159623		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180159623A>G	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1196A>G	1.37:g.180159623A>G	ENSP00000356574:p.His399Arg					QSOX1_uc001gny.2_Missense_Mutation_p.H399R|QSOX1_uc001goa.2_Missense_Mutation_p.H399R	p.H399R	NM_002826	NP_002817	O00391	QSOX1_HUMAN			10	1271	+			399			ERV/ALR sulfhydryl oxidase.		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.1196A>G	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650723	0.47362	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.41758	0.99;2.36	4.57	4.57	0.56435	Erv1/Alr (2);ERV/ALR sulphydryl oxidase (1);	0.169009	0.53938	D	0.000054	T	0.38268	0.1034	L	0.45581	1.43	0.42091	D	0.991299	B;B;B	0.30455	0.184;0.098;0.28	B;B;B	0.33196	0.076;0.049;0.159	T	0.23655	-1.0182	10	0.32370	T	0.25	-11.9957	13.609	0.62065	1.0:0.0:0.0:0.0	.	399;399;399	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	R	399	ENSP00000356574:H399R;ENSP00000356572:H399R	ENSP00000356572:H399R	H	+	2	0	QSOX1	178426246	0.997000	0.39634	0.989000	0.46669	0.959000	0.62525	5.545000	0.67237	1.705000	0.51264	0.379000	0.24179	CAT		0.562	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		71	122	0	0	0	0.00361	0	71	122				
KIAA1614	57710	broad.mit.edu	37	1	180885948	180885948	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:180885948A>T	ENST00000367588.4	+	2	764	c.709A>T	c.(709-711)Agg>Tgg	p.R237W		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	237								p.R237W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCCAGCCCAAGGACAGGAAG	0.582																																							uc001gok.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(709-711)AGG>TGG		hypothetical protein LOC57710							175.0	186.0	183.0					1																	180885948		2030	4178	6208	SO:0001583	missense	57710							g.chr1:180885948A>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.709A>T	1.37:g.180885948A>T	ENSP00000356560:p.Arg237Trp						p.R237W	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	776	+			237					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.709A>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942996	0.53079	.	.	ENSG00000135835	ENST00000367588	T	0.06449	3.3	4.57	0.786	0.18590	.	0.208599	0.23202	N	0.050763	T	0.11965	0.0291	L	0.44542	1.39	0.27177	N	0.960769	D	0.63046	0.992	D	0.63033	0.91	T	0.10474	-1.0628	9	0.72032	D	0.01	-3.8797	6.1438	0.20275	0.3599:0.5368:0.1033:0.0	.	237	Q5VZ46	K1614_HUMAN	W	237	ENSP00000356560:R237W	ENSP00000356560:R237W	R	+	1	2	KIAA1614	179152571	0.004000	0.15560	0.007000	0.13788	0.032000	0.12392	0.829000	0.27449	0.254000	0.21573	0.460000	0.39030	AGG		0.582	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		83	167	0	0	0	0.00361	0	83	167				
ZNF648	127665	broad.mit.edu	37	1	182026091	182026091	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:182026091T>A	ENST00000339948.3	-	2	1262	c.1055A>T	c.(1054-1056)aAa>aTa	p.K352I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K352I(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCGCTGGTGTTTGCGCAGGTC	0.637																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1054-1056)AAA>ATA		zinc finger protein 648							99.0	91.0	93.0					1																	182026091		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026091T>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1055A>T	1.37:g.182026091T>A	ENSP00000344129:p.Lys352Ile						p.K352I	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	1263	-			352			C2H2-type 3.		B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.1055A>T	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.398251	0.42512	.	.	ENSG00000179930	ENST00000339948	T	0.20598	2.06	2.64	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	N	0.17723	0.515	0.39472	D	0.967745	B	0.16396	0.017	B	0.17433	0.018	T	0.11542	-1.0583	9	0.36615	T	0.2	.	5.0831	0.14666	0.2643:0.0:0.0:0.7357	.	352	Q5T619	ZN648_HUMAN	I	352	ENSP00000344129:K352I	ENSP00000344129:K352I	K	-	2	0	ZNF648	180292714	0.015000	0.18098	0.999000	0.59377	0.998000	0.95712	0.672000	0.25187	1.453000	0.47775	0.459000	0.35465	AAA		0.637	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		6	27	0	0	0	0.001984	0	6	27				
HMCN1	83872	broad.mit.edu	37	1	186031015	186031015	+	Missense_Mutation	SNP	A	A	G	rs199613884		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:186031015A>G	ENST00000271588.4	+	47	7574	c.7345A>G	c.(7345-7347)Atg>Gtg	p.M2449V	HMCN1_ENST00000367492.2_Missense_Mutation_p.M2449V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2449	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.M2449V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCAGACCACAATGGAAGATGC	0.383													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16421	0.0		0.0	False		,,,				2504	0.0						uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(7345-7347)ATG>GTG		hemicentin 1 precursor		A	VAL/MET	0,4406		0,0,2203	105.0	114.0	111.0		7345	-5.4	0.0	1		111	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	21	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	2449/5636	186031015	2,13004	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186031015A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7345A>G	1.37:g.186031015A>G	ENSP00000271588:p.Met2449Val						p.M2449V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			47	7574	+			2449			Ig-like C2-type 22.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7345A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.570353	0.00895	0.0	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.27890	1.64;1.64	5.39	-5.36	0.02689	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.583950	0.03308	N	0.190124	T	0.10551	0.0258	N	0.02973	-0.45	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17198	-1.0377	10	0.14252	T	0.57	.	4.5711	0.12210	0.1322:0.3496:0.4069:0.1114	.	2449	Q96RW7	HMCN1_HUMAN	V	2449	ENSP00000271588:M2449V;ENSP00000356462:M2449V	ENSP00000271588:M2449V	M	+	1	0	HMCN1	184297638	0.000000	0.05858	0.002000	0.10522	0.453000	0.32348	0.081000	0.14823	-0.920000	0.03799	-0.346000	0.07831	ATG		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	105	0	0	0	0.008871	0	18	105				
BRINP3	339479	broad.mit.edu	37	1	190067407	190067407	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:190067407C>A	ENST00000367462.3	-	8	2273	c.2042G>T	c.(2041-2043)cGg>cTg	p.R681L	BRINP3_ENST00000534846.1_Missense_Mutation_p.R579L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	681					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R681L(1)									AATCAGGTCCCGAATTGCTTC	0.458																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2041-2043)CGG>CTG		family with sequence similarity 5, member C							108.0	108.0	108.0					1																	190067407		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067407C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2042G>T	1.37:g.190067407C>A	ENSP00000356432:p.Arg681Leu					FAM5C_uc010pot.1_Missense_Mutation_p.R579L	p.R681L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2274	-	Prostate(682;0.198)		681					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2042G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482115	0.63849	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22945	2.2;1.93	5.62	4.72	0.59763	.	0.060689	0.64402	D	0.000002	T	0.35068	0.0919	M	0.66939	2.045	0.80722	D	1	P;P	0.52170	0.951;0.918	P;B	0.47744	0.556;0.353	T	0.23904	-1.0175	10	0.87932	D	0	.	12.1876	0.54247	0.0:0.9171:0.0:0.0829	.	579;681	B7Z260;Q76B58	.;FAM5C_HUMAN	L	681;579	ENSP00000356432:R681L;ENSP00000438022:R579L	ENSP00000356432:R681L	R	-	2	0	FAM5C	188334030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.876000	0.63079	1.382000	0.46385	0.650000	0.86243	CGG		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		62	90	1	0	1.50372e-20	0.00361	2.5932e-20	62	90				
BRINP3	339479	broad.mit.edu	37	1	190067891	190067891	+	Missense_Mutation	SNP	G	G	T	rs147799875		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:190067891G>T	ENST00000367462.3	-	8	1789	c.1558C>A	c.(1558-1560)Cgc>Agc	p.R520S	BRINP3_ENST00000534846.1_Missense_Mutation_p.R418S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	520					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R520G(2)|p.R520S(1)									CTATTGAGGCGCATGTCATTG	0.453																																							uc001gse.1		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1558-1560)CGC>AGC		family with sequence similarity 5, member C							142.0	136.0	138.0					1																	190067891		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067891G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1558C>A	1.37:g.190067891G>T	ENSP00000356432:p.Arg520Ser					FAM5C_uc010pot.1_Missense_Mutation_p.R418S	p.R520S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1790	-	Prostate(682;0.198)		520					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1558C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338198	0.60963	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25085	2.06;1.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.67145	0.996;0.987	D;D	0.76575	0.988;0.931	T	0.50775	-0.8788	10	0.72032	D	0.01	.	12.1722	0.54165	0.0:0.0:0.8293:0.1707	.	418;520	B7Z260;Q76B58	.;FAM5C_HUMAN	S	520;418	ENSP00000356432:R520S;ENSP00000438022:R418S	ENSP00000356432:R520S	R	-	1	0	FAM5C	188334514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.617000	0.61204	2.653000	0.90120	0.591000	0.81541	CGC		0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		15	170	1	0	3.45872e-05	0.004007	4.11307e-05	15	170				
BRINP3	339479	broad.mit.edu	37	1	190250803	190250803	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:190250803G>C	ENST00000367462.3	-	3	545	c.314C>G	c.(313-315)cCt>cGt	p.P105R	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	105	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.P105R(1)									GAAGAATTCAGGGGCAAGAGG	0.413																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(313-315)CCT>CGT		family with sequence similarity 5, member C							86.0	82.0	83.0					1																	190250803		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250803G>C	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.314C>G	1.37:g.190250803G>C	ENSP00000356432:p.Pro105Arg					FAM5C_uc010pot.1_Intron	p.P105R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	546	-	Prostate(682;0.198)		105					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.314C>G	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767078	0.90020	.	.	ENSG00000162670	ENST00000367462	D	0.84070	-1.8	5.67	5.67	0.87782	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.90940	0.7152	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91566	0.5268	10	0.87932	D	0	.	17.2529	0.87047	0.0:0.0:1.0:0.0	.	105	Q76B58	FAM5C_HUMAN	R	105	ENSP00000356432:P105R	ENSP00000356432:P105R	P	-	2	0	FAM5C	188517426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.837000	0.99465	2.677000	0.91161	0.585000	0.79938	CCT		0.413	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		15	68	0	0	0	0.004007	0	15	68				
KCNT2	343450	broad.mit.edu	37	1	196448362	196448362	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:196448362C>G	ENST00000294725.9	-	5	1246	c.331G>C	c.(331-333)Gtg>Ctg	p.V111L	KCNT2_ENST00000367431.4_Missense_Mutation_p.V111L|KCNT2_ENST00000367433.5_Missense_Mutation_p.V111L|KCNT2_ENST00000609185.1_Missense_Mutation_p.V111L|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	111					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.V111L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATCAATGCCACTGAAACCTGA	0.274																																							uc001gtd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(331-333)GTG>CTG		potassium channel, subfamily T, member 2							58.0	57.0	57.0					1																	196448362		2201	4293	6494	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196448362C>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.331G>C	1.37:g.196448362C>G	ENSP00000294725:p.Val111Leu					KCNT2_uc001gte.1_Missense_Mutation_p.V111L|KCNT2_uc001gtf.1_Missense_Mutation_p.V111L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.V111L|KCNT2_uc009wyv.1_Missense_Mutation_p.V111L	p.V111L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			5	391	-			111			Helical; Name=Segment S2; (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.331G>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996747	0.19043	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.17213	2.3;2.29;2.54	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000018	T	0.13415	0.0325	L	0.37697	1.125	0.80722	D	1	B;B;B;B	0.18461	0.008;0.007;0.028;0.008	B;B;B;B	0.20767	0.016;0.031;0.02;0.016	T	0.03673	-1.1014	10	0.02654	T	1	-15.7594	16.2979	0.82784	0.0:1.0:0.0:0.0	.	111;111;111;111	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	L	111	ENSP00000356403:V111L;ENSP00000356401:V111L;ENSP00000294725:V111L	ENSP00000294725:V111L	V	-	1	0	KCNT2	194714985	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.643000	0.54374	2.791000	0.96007	0.591000	0.81541	GTG		0.274	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		10	27	0	0	0	0.008291	0	10	27				
F13B	2165	broad.mit.edu	37	1	197026157	197026157	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:197026157G>C	ENST00000367412.1	-	7	1200	c.1157C>G	c.(1156-1158)cCt>cGt	p.P386R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	386	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.P386R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACACTCAGGAGGAAGTGTCCA	0.358																																							uc001gtt.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1156-1158)CCT>CGT		coagulation factor XIII B subunit precursor							132.0	113.0	119.0					1																	197026157		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197026157G>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1157C>G	1.37:g.197026157G>C	ENSP00000356382:p.Pro386Arg						p.P386R	NM_001994	NP_001985	P05160	F13B_HUMAN			7	1201	-			386			Sushi 6.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1157C>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661155	0.29515	.	.	ENSG00000143278	ENST00000367412	T	0.65916	-0.18	5.77	3.88	0.44766	Complement control module (2);Sushi/SCR/CCP (3);	0.258992	0.20577	N	0.089609	T	0.78672	0.4320	M	0.87038	2.855	0.26004	N	0.982086	D	0.89917	1.0	D	0.79784	0.993	T	0.69367	-0.5164	10	0.46703	T	0.11	.	8.9685	0.35892	0.078:0.0:0.7734:0.1486	.	386	P05160	F13B_HUMAN	R	386	ENSP00000356382:P386R	ENSP00000356382:P386R	P	-	2	0	F13B	195292780	0.989000	0.36119	0.668000	0.29813	0.043000	0.13939	2.747000	0.47475	0.770000	0.33336	-0.188000	0.12872	CCT		0.358	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		7	71	0	0	0	0.001984	0	7	71				
F13B	2165	broad.mit.edu	37	1	197026458	197026458	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:197026458G>T	ENST00000367412.1	-	6	986	c.943C>A	c.(943-945)Cgt>Agt	p.R315S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	315	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.R315S(1)|p.R315C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCTTCACAACGTATTTCTGCT	0.353																																							uc001gtt.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(943-945)CGT>AGT		coagulation factor XIII B subunit precursor							197.0	185.0	189.0					1																	197026458		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197026458G>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.943C>A	1.37:g.197026458G>T	ENSP00000356382:p.Arg315Ser						p.R315S	NM_001994	NP_001985	P05160	F13B_HUMAN			6	987	-			315			Sushi 5.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.943C>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379766	0.24944	.	.	ENSG00000143278	ENST00000367412	T	0.65364	-0.15	5.64	4.72	0.59763	Complement control module (2);Sushi/SCR/CCP (3);	0.872131	0.09343	N	0.815184	T	0.58278	0.2111	N	0.26042	0.785	0.23056	N	0.998367	P	0.47484	0.896	P	0.48552	0.581	T	0.45585	-0.9251	10	0.09590	T	0.72	.	16.8169	0.85736	0.0:0.1284:0.8716:0.0	.	315	P05160	F13B_HUMAN	S	315	ENSP00000356382:R315S	ENSP00000356382:R315S	R	-	1	0	F13B	195293081	0.996000	0.38824	0.003000	0.11579	0.031000	0.12232	4.641000	0.61375	1.354000	0.45846	0.650000	0.86243	CGT		0.353	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		32	142	1	0	3.90053e-15	0.002445	6.34299e-15	32	142				
CRB1	23418	broad.mit.edu	37	1	197446847	197446847	+	Silent	SNP	C	C	T	rs541669826		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:197446847C>T	ENST00000367400.3	+	12	4194	c.4059C>T	c.(4057-4059)gtC>gtT	p.V1353V	CRB1_ENST00000367399.2_Silent_p.V1241V|CRB1_ENST00000538660.1_Silent_p.V817V|CRB1_ENST00000535699.1_Silent_p.V1329V|CRB1_ENST00000544212.1_Silent_p.V834V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1353					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1353V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGTGACTGTCGCCTTGTTAC	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19832	0.0		0.0	False		,,,				2504	0.0						uc001gtz.2		NA																	2	Substitution - coding silent(2)		lung(1)|central_nervous_system(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(4057-4059)GTC>GTT		crumbs homolog 1 precursor							110.0	90.0	97.0					1																	197446847		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197446847C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.4059C>T	1.37:g.197446847C>T						CRB1_uc010poz.1_Silent_p.V1329V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.V1241V|CRB1_uc010ppb.1_Silent_p.V817V|CRB1_uc010ppd.1_Silent_p.V834V	p.V1353V	NM_201253	NP_957705	P82279	CRUM1_HUMAN			12	4194	+			1353			Helical; (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.4059C>T	CCDS1390.1																																																																																				0.483	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		6	76	0	0	0	0.001168	0	6	76				
PTPRC	5788	broad.mit.edu	37	1	198668730	198668730	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:198668730C>G	ENST00000367376.2	+	5	501	c.330C>G	c.(328-330)caC>caG	p.H110Q	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.H112Q|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.H110Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	110					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H110Q(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTCCCACGCACGCAGACTCGC	0.517											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001gur.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(328-330)CAC>CAG		protein tyrosine phosphatase, receptor type, C							113.0	116.0	115.0					1																	198668730		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668730C>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.330C>G	1.37:g.198668730C>G	ENSP00000356346:p.His110Gln		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_uc001gus.1_Missense_Mutation_p.H110Q|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.H46Q|PTPRC_uc009wzf.1_Missense_Mutation_p.H46Q|PTPRC_uc010ppg.1_Missense_Mutation_p.H46Q|PTPRC_uc001guu.1_Missense_Mutation_p.H153Q|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	p.H110Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN			5	510	+			110			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.330C>G		.	.	.	.	.	.	.	.	.	.	C	8.413	0.844702	0.16963	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.02837	4.14	5.21	-1.53	0.08611	.	0.126220	0.36134	N	0.002765	T	0.01905	0.0060	N	0.25380	0.74	0.09310	N	0.999992	B;B;P;P;B;B	0.42620	0.294;0.119;0.785;0.785;0.039;0.039	B;B;B;B;B;B	0.42062	0.073;0.022;0.261;0.374;0.008;0.008	T	0.49995	-0.8879	10	0.13470	T	0.59	.	6.1783	0.20457	0.0:0.4527:0.2464:0.3009	.	46;46;46;151;110;110	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	Q	112;46;110;110;151;44;110;44;110	ENSP00000193532:H110Q	ENSP00000271610:H151Q	H	+	3	2	PTPRC	196935353	0.001000	0.12720	0.115000	0.21578	0.584000	0.36387	-0.817000	0.04472	-0.300000	0.08895	-1.644000	0.00765	CAC		0.517	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				12	158	0	0	0	0.000978	0	12	158				
LGR6	59352	broad.mit.edu	37	1	202288240	202288240	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:202288240C>G	ENST00000367278.3	+	18	2898	c.2809C>G	c.(2809-2811)Ctg>Gtg	p.L937V	LGR6_ENST00000439764.2_Missense_Mutation_p.L798V|LGR6_ENST00000255432.7_Missense_Mutation_p.L885V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	937					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.L937V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGAGAACTGCTGCTGAGGGC	0.612																																							uc001gxu.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2809-2811)CTG>GTG		leucine-rich repeat-containing G protein-coupled							65.0	69.0	68.0					1																	202288240		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288240C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2809C>G	1.37:g.202288240C>G	ENSP00000356247:p.Leu937Val					LGR6_uc001gxv.2_Missense_Mutation_p.L885V|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.L798V	p.L937V	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2809	+			937			Cytoplasmic (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2809C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032854	0.19590	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.61742	0.08;0.48;0.51	5.35	2.43	0.29744	.	0.498772	0.15247	N	0.272529	T	0.40222	0.1108	N	0.22421	0.69	0.27294	N	0.957762	B;B;B	0.30605	0.287;0.13;0.079	B;B;B	0.31101	0.124;0.037;0.037	T	0.26189	-1.0110	10	0.44086	T	0.13	.	7.4351	0.27150	0.0:0.7151:0.1371:0.1477	.	798;885;937	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	V	937;885;798	ENSP00000356247:L937V;ENSP00000255432:L885V;ENSP00000387869:L798V	ENSP00000255432:L885V	L	+	1	2	LGR6	200554863	0.998000	0.40836	0.639000	0.29394	0.482000	0.33219	0.557000	0.23454	0.337000	0.23665	-0.350000	0.07774	CTG		0.612	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		18	63	0	0	0	0.008871	0	18	63				
PPFIA4	8497	broad.mit.edu	37	1	203008326	203008326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:203008326G>T	ENST00000447715.2	+	6	631	c.190G>T	c.(190-192)Gag>Tag	p.E64*	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000367240.2_Nonsense_Mutation_p.E64*			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	64					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.E211*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCCATACACGAGCGGGACCA	0.627											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc009xaj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(631-633)GAG>TAG		SubName: Full=Liprin alpha4;							15.0	14.0	14.0					1																	203008326		876	1989	2865	SO:0001587	stop_gained	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203008326G>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.190G>T	1.37:g.203008326G>T	ENSP00000402576:p.Glu64*		OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.E211*			O75335	LIPA4_HUMAN			6	631	+			Error:Variant_position_missing_in_O75335_after_alignment					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Nonsense_Mutation	SNP	ENST00000447715.2	37	c.631G>T		.	.	.	.	.	.	.	.	.	.	G	42	9.738370	0.99252	.	.	ENSG00000143847	ENST00000367240;ENST00000447715	.	.	.	5.33	4.36	0.52297	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.9481	15.4378	0.75160	0.0:0.1391:0.8609:0.0	.	.	.	.	X	64	.	ENSP00000356209:E64X	E	+	1	0	PPFIA4	201274949	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	7.934000	0.87649	2.503000	0.84419	0.561000	0.74099	GAG		0.627	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		5	11	1	0	1.23904e-05	0.000602	1.49305e-05	5	11				
PPP1R15B	84919	broad.mit.edu	37	1	204379011	204379011	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:204379011G>A	ENST00000367188.4	-	1	1908	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	510					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.S510L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATCCTTCTCTGAATCAGAAGG	0.468																																							uc001hav.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1528-1530)TCA>TTA		protein phosphatase 1, regulatory subunit 15B							56.0	60.0	59.0					1																	204379011		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204379011G>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1529C>T	1.37:g.204379011G>A	ENSP00000356156:p.Ser510Leu						p.S510L	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1934	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		510					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1529C>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083784	0.55861	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.25749	1.78	5.38	4.47	0.54385	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.330900	0.29646	N	0.011568	T	0.33177	0.0854	M	0.75447	2.3	0.09310	N	1	P	0.47409	0.895	P	0.46026	0.501	T	0.32719	-0.9896	10	0.72032	D	0.01	-9.3378	8.266	0.31815	0.1789:0.0:0.8211:0.0	.	510	Q5SWA1	PR15B_HUMAN	L	510;420	ENSP00000356156:S510L	ENSP00000356156:S510L	S	-	2	0	PPP1R15B	202645634	0.480000	0.25933	0.003000	0.11579	0.848000	0.48234	3.151000	0.50670	1.260000	0.44134	0.655000	0.94253	TCA		0.468	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		9	91	0	0	0	0.006214	0	9	91				
PPP1R15B	84919	broad.mit.edu	37	1	204379097	204379097	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:204379097G>C	ENST00000367188.4	-	1	1822	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	481					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.F481L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CTACACTGCAGAAAGAGTTCC	0.448																																							uc001hav.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1441-1443)TTC>TTG		protein phosphatase 1, regulatory subunit 15B							95.0	101.0	99.0					1																	204379097		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204379097G>C	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1443C>G	1.37:g.204379097G>C	ENSP00000356156:p.Phe481Leu						p.F481L	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1848	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		481					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1443C>G	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372063	0.61624	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.20200	2.09	5.38	4.47	0.54385	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.115026	0.64402	D	0.000012	T	0.28433	0.0703	M	0.64997	1.995	0.37690	D	0.923804	P	0.42296	0.775	P	0.46758	0.526	T	0.15009	-1.0452	10	0.48119	T	0.1	-14.8805	9.4328	0.38620	0.1642:0.0:0.8358:0.0	.	481	Q5SWA1	PR15B_HUMAN	L	481;391	ENSP00000356156:F481L	ENSP00000356156:F481L	F	-	3	2	PPP1R15B	202645720	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.453000	0.35167	1.265000	0.44215	-0.140000	0.14226	TTC		0.448	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		11	160	0	0	0	0.001368	0	11	160				
NUCKS1	64710	broad.mit.edu	37	1	205688745	205688745	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:205688745T>G	ENST00000367142.4	-	6	744	c.442A>C	c.(442-444)Agt>Cgt	p.S148R	NUCKS1_ENST00000464938.1_5'UTR	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	148						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S148R(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTTTTCGAACTGCCATAGTCA	0.363																																							uc001hdb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(442-444)AGT>CGT		nuclear casein kinase and cyclin-dependent							67.0	69.0	69.0					1																	205688745		2203	4300	6503	SO:0001583	missense	64710					nucleus		g.chr1:205688745T>G		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.442A>C	1.37:g.205688745T>G	ENSP00000356110:p.Ser148Arg						p.S148R	NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		6	702	-	Breast(84;0.07)		148					Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Missense_Mutation	SNP	ENST00000367142.4	37	c.442A>C	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783750	0.31593	.	.	ENSG00000069275	ENST00000367142	T	0.22336	1.96	5.73	5.73	0.89815	.	0.132651	0.64402	D	0.000001	T	0.04815	0.0130	N	0.00289	-1.7	0.42866	D	0.994122	B	0.06786	0.001	B	0.04013	0.001	T	0.33394	-0.9870	10	0.07175	T	0.84	-5.2468	11.6407	0.51230	0.0:0.0:0.1484:0.8516	.	148	Q9H1E3	NUCKS_HUMAN	R	148	ENSP00000356110:S148R	ENSP00000356110:S148R	S	-	1	0	NUCKS1	203955368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.723000	0.61965	2.180000	0.69256	0.533000	0.62120	AGT		0.363	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		43	61	0	0	0	0.003214	0	43	61				
AVPR1B	553	broad.mit.edu	37	1	206224651	206224651	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:206224651C>A	ENST00000367126.4	+	1	676	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	71					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.L71M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGCATGCACCTGTTCGTGCT	0.677																																							uc001hds.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(211-213)CTG>ATG		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						57.0	58.0	58.0					1																	206224651		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224651C>A	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.211C>A	1.37:g.206224651C>A	ENSP00000356094:p.Leu71Met						p.L71M	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	369	+			71			Cytoplasmic (Potential).		B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.211C>A	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677129	0.68042	.	.	ENSG00000198049	ENST00000367126	T	0.22134	1.97	5.35	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.116646	0.36374	N	0.002640	T	0.36248	0.0960	M	0.63843	1.955	0.44508	D	0.997451	D	0.53745	0.962	D	0.64877	0.93	T	0.06972	-1.0797	10	0.48119	T	0.1	-15.1621	7.6065	0.28105	0.0:0.7184:0.1379:0.1437	.	71	P47901	V1BR_HUMAN	M	71	ENSP00000356094:L71M	ENSP00000356094:L71M	L	+	1	2	AVPR1B	204391274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.124000	0.42006	1.483000	0.48342	0.514000	0.50259	CTG		0.677	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		26	40	1	0	1.17739e-12	0.005443	1.80596e-12	26	40				
LAMB3	3914	broad.mit.edu	37	1	209799050	209799050	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:209799050C>G	ENST00000356082.4	-	14	2053	c.1919G>C	c.(1918-1920)aGc>aCc	p.S640T	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.S640T|LAMB3_ENST00000391911.1_Missense_Mutation_p.S640T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	640	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S640T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GACTGCGGGGCTGCTGAGAAC	0.592																																							uc001hhg.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(1918-1920)AGC>ACC		laminin, beta 3 precursor							77.0	74.0	75.0					1																	209799050		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799050C>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1919G>C	1.37:g.209799050C>G	ENSP00000348384:p.Ser640Thr					LAMB3_uc009xco.2_Missense_Mutation_p.S640T|LAMB3_uc001hhh.2_Missense_Mutation_p.S640T|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	p.S640T	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2309	-			640			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1919G>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	1.410	-0.575873	0.03882	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37411	1.2;1.2;1.2	5.24	0.927	0.19437	.	0.909320	0.09824	N	0.751097	T	0.15739	0.0379	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31971	-0.9924	10	0.07644	T	0.81	.	3.1677	0.06541	0.1192:0.5043:0.1171:0.2594	.	640	Q13751	LAMB3_HUMAN	T	640	ENSP00000375778:S640T;ENSP00000348384:S640T;ENSP00000355997:S640T	ENSP00000348384:S640T	S	-	2	0	LAMB3	207865673	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.522000	0.06237	0.591000	0.29711	0.549000	0.68633	AGC		0.592	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		56	87	0	0	0	0.00361	0	56	87				
KCNH1	3756	broad.mit.edu	37	1	211192227	211192227	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:211192227G>A	ENST00000271751.4	-	6	957	c.930C>T	c.(928-930)aaC>aaT	p.N310N	KCNH1_ENST00000367007.4_Silent_p.N310N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	310					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.N310N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTCAAAAGCGTTGATGACAT	0.483																																							uc001hib.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(928-930)AAC>AAT		potassium voltage-gated channel, subfamily H,							244.0	215.0	225.0					1																	211192227		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192227G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.930C>T	1.37:g.211192227G>A						KCNH1_uc001hic.2_Silent_p.N310N	p.N310N	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	1100	-			310			Helical; Name=Segment S3; (Potential).		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.930C>T	CCDS1496.1																																																																																				0.483	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		38	181	0	0	0	0.00623	0	38	181				
RD3	343035	broad.mit.edu	37	1	211654573	211654573	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:211654573C>A	ENST00000367002.4	-	2	1348	c.185G>T	c.(184-186)tGg>tTg	p.W62L	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	62					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)			p.W62L(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTGGCCAGCCAGCTGTAGTC	0.602																																							uc001him.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)TGG>TTG		retinal degeneration 3							93.0	89.0	90.0					1																	211654573		2203	4300	6503	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211654573C>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.185G>T	1.37:g.211654573C>A	ENSP00000355969:p.Trp62Leu					RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron	p.W62L	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	2	1349	-			62					A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.185G>T	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105655	0.94292	.	.	ENSG00000198570	ENST00000367002	T	0.32272	1.46	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.66520	-0.5903	10	0.87932	D	0	-49.5813	18.3198	0.90234	0.0:1.0:0.0:0.0	.	62	Q7Z3Z2	RD3_HUMAN	L	62	ENSP00000355969:W62L	ENSP00000355969:W62L	W	-	2	0	RD3	209721196	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.048000	0.76606	2.395000	0.81488	0.561000	0.74099	TGG		0.602	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		5	99	1	0	8.12818e-05	0.001984	9.43997e-05	5	99				
USH2A	7399	broad.mit.edu	37	1	215953232	215953232	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:215953232C>A	ENST00000307340.3	-	55	11278	c.10892G>T	c.(10891-10893)gGt>gTt	p.G3631V	USH2A_ENST00000366943.2_Missense_Mutation_p.G3631V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3631	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G3631V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGATGAGACCTTTCCCAAC	0.483										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10891-10893)GGT>GTT		usherin isoform B							210.0	169.0	183.0					1																	215953232		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215953232C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10892G>T	1.37:g.215953232C>A	ENSP00000305941:p.Gly3631Val	HNSCC(13;0.011)					p.G3631V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	55	11279	-			3631			Extracellular (Potential).|Fibronectin type-III 21.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10892G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772823	0.69992	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59502	0.26;0.26	5.9	4.99	0.66335	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000336	T	0.74145	0.3678	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74985	-0.3477	10	0.42905	T	0.14	.	14.7949	0.69870	0.0:0.9311:0.0:0.0689	.	3631	O75445	USH2A_HUMAN	V	3631	ENSP00000305941:G3631V;ENSP00000355910:G3631V	ENSP00000305941:G3631V	G	-	2	0	USH2A	214019855	0.996000	0.38824	0.856000	0.33681	0.997000	0.91878	3.553000	0.53713	1.490000	0.48466	0.650000	0.86243	GGT		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	99	1	0	4.32679e-17	0.006999	7.24267e-17	36	99				
USH2A	7399	broad.mit.edu	37	1	216040371	216040371	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:216040371G>A	ENST00000307340.3	-	44	9209	c.8823C>T	c.(8821-8823)atC>atT	p.I2941I	USH2A_ENST00000366943.2_Silent_p.I2941I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2941	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I2941I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTCACGTCGATGGCTGTGT	0.453										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8821-8823)ATC>ATT		usherin isoform B							164.0	135.0	145.0					1																	216040371		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216040371G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8823C>T	1.37:g.216040371G>A		HNSCC(13;0.011)					p.I2941I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9210	-			2941			Fibronectin type-III 16.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8823C>T	CCDS31025.1																																																																																				0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	102	0	0	0	0.001855	0	9	102				
USH2A	7399	broad.mit.edu	37	1	216420110	216420110	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:216420110C>A	ENST00000307340.3	-	13	3012	c.2626G>T	c.(2626-2628)Ggt>Tgt	p.G876C	USH2A_ENST00000366942.3_Missense_Mutation_p.G876C|USH2A_ENST00000366943.2_Missense_Mutation_p.G876C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	876	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G876C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGCGAAGACCTGTTACCCCT	0.448										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2626-2628)GGT>TGT		usherin isoform B							239.0	216.0	224.0					1																	216420110		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420110C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2626G>T	1.37:g.216420110C>A	ENSP00000305941:p.Gly876Cys	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.G876C	p.G876C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	3013	-			876			Laminin EGF-like 7.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2626G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294087	0.60086	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.85629	-2.01;-2.01;-2.01	6.03	5.12	0.69794	EGF-like, laminin (4);	0.000000	0.43919	D	0.000516	D	0.95698	0.8601	H	0.99058	4.415	0.47374	D	0.999407	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97512	1.0067	10	0.87932	D	0	.	15.2809	0.73784	0.0:0.9333:0.0:0.0667	.	876;876	O75445-2;O75445	.;USH2A_HUMAN	C	876	ENSP00000305941:G876C;ENSP00000355910:G876C;ENSP00000355909:G876C	ENSP00000305941:G876C	G	-	1	0	USH2A	214486733	0.867000	0.29959	0.999000	0.59377	0.955000	0.61496	2.158000	0.42329	1.567000	0.49668	-0.136000	0.14681	GGT		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		39	225	1	0	4.90274e-10	0.00623	7.06288e-10	39	225				
CDC42BPA	8476	broad.mit.edu	37	1	227348290	227348290	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:227348290C>G	ENST00000366769.3	-	6	1938	c.647G>C	c.(646-648)cGg>cCg	p.R216P	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R216P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R216P|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R216P|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R216P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R216L(3)|p.R216P(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATCTGCTAACCGAATATGTCC	0.294																																							uc001hqr.2		NA																	6	Substitution - Missense(6)		lung(6)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(646-648)CGG>CCG		CDC42-binding protein kinase alpha isoform B							146.0	152.0	150.0					1																	227348290		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227348290C>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.647G>C	1.37:g.227348290C>G	ENSP00000355731:p.Arg216Pro					CDC42BPA_uc001hqs.2_Missense_Mutation_p.R216P|CDC42BPA_uc009xes.2_Missense_Mutation_p.R216P|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R216P	p.R216P	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			6	1590	-		all_cancers(173;0.156)|Prostate(94;0.0792)	216			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.647G>C	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831498	0.91036	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	T	0.69124	-0.5228	10	0.87932	D	0	.	17.4674	0.87637	0.0:1.0:0.0:0.0	.	216;216;216;216	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	P	216	ENSP00000355731:R216P;ENSP00000355729:R216P;ENSP00000335341:R216P;ENSP00000355728:R216P;ENSP00000355726:R216P;ENSP00000443275:R216P;ENSP00000355727:R216P	ENSP00000335341:R216P	R	-	2	0	CDC42BPA	225414913	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.153000	0.77428	2.394000	0.81467	0.585000	0.79938	CGG		0.294	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		24	193	0	0	0	0.007291	0	24	193				
WNT9A	7483	broad.mit.edu	37	1	228109636	228109636	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:228109636C>A	ENST00000272164.5	-	4	691	c.681G>T	c.(679-681)cgG>cgT	p.R227R		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	227					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R227R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GCCAGCAGGTCCGCACCGTGC	0.622																																							uc001hri.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(679-681)CGG>CGT		wingless-type MMTV integration site family,							56.0	57.0	57.0					1																	228109636		2203	4300	6503	SO:0001819	synonymous_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109636C>A	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.681G>T	1.37:g.228109636C>A							p.R227R	NM_003395	NP_003386	O14904	WNT9A_HUMAN			4	769	-		Prostate(94;0.0405)	227					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.681G>T	CCDS31045.1																																																																																				0.622	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		30	63	1	0	5.6714e-07	0.002096	7.2783e-07	30	63				
OBSCN	84033	broad.mit.edu	37	1	228481254	228481254	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:228481254G>T	ENST00000422127.1	+	41	11112	c.11068G>T	c.(11068-11070)Gac>Tac	p.D3690Y	OBSCN_ENST00000570156.2_Missense_Mutation_p.D4119Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D2537Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D809Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D3690Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D809Y|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3690	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D3973Y(1)|p.D3874Y(1)|p.D3744Y(1)|p.D3690Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGCAGAGGACGCTGGGGA	0.632																																							uc009xez.1		NA																	4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(11068-11070)GAC>TAC		obscurin, cytoskeletal calmodulin and							92.0	98.0	96.0					1																	228481254		2192	4273	6465	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481254G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11068G>T	1.37:g.228481254G>T	ENSP00000409493:p.Asp3690Tyr					OBSCN_uc001hsn.2_Missense_Mutation_p.D3690Y|OBSCN_uc001hsq.1_Missense_Mutation_p.D946Y	p.D3690Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			41	11112	+		Prostate(94;0.0405)	3690			Ig-like 37.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11068G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.514468	0.64522	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.59	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	H	0.99600	4.65	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97289	0.9923	10	0.87932	D	0	.	17.5728	0.87940	0.0:0.0:1.0:0.0	.	3690;3690	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	3690;3690;809;809;2537	ENSP00000284548:D3690Y;ENSP00000409493:D3690Y;ENSP00000355668:D809Y;ENSP00000355670:D809Y;ENSP00000352613:D2537Y	ENSP00000284548:D3690Y	D	+	1	0	OBSCN	226547877	1.000000	0.71417	0.007000	0.13788	0.002000	0.02628	7.329000	0.79170	2.383000	0.81215	0.563000	0.77884	GAC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		37	64	1	0	2.19489e-29	0.00623	4.04806e-29	37	64				
GALNT2	2590	broad.mit.edu	37	1	230415090	230415090	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:230415090G>T	ENST00000366672.4	+	16	1674	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V	RP5-956O18.3_ENST00000414640.1_RNA|GALNT2_ENST00000543760.1_Silent_p.V496V|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V534V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGGCACGTGGGCAGCAACC	0.587																																							uc010pwa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1600-1602)GTG>GTT		polypeptide N-acetylgalactosaminyltransferase 2							71.0	64.0	67.0					1																	230415090		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230415090G>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1602G>T	1.37:g.230415090G>T						GALNT2_uc010pvy.1_Silent_p.V496V|GALNT2_uc001htu.2_Silent_p.V146V	p.V534V	NM_004481	NP_004472	Q10471	GALT2_HUMAN			16	1674	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	534			Lumenal (Potential).|Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.1602G>T	CCDS1582.1																																																																																				0.587	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		24	58	1	0	0.000295444	0.002299	0.000335533	24	58				
TRIM67	440730	broad.mit.edu	37	1	231344888	231344888	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:231344888G>T	ENST00000366653.5	+	8	2015	c.2015G>T	c.(2014-2016)aGg>aTg	p.R672M	TRIM67_ENST00000444294.3_Missense_Mutation_p.R670M|TRIM67_ENST00000449018.3_Missense_Mutation_p.R610M|TRIM67_ENST00000366652.2_Missense_Mutation_p.R672M			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	672	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.R672M(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGGTGGCCAGGGCCAGCGTG	0.627																																							uc009xfn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|kidney(1)	4						c.(2014-2016)AGG>ATG		tripartite motif-containing 67							84.0	93.0	90.0					1																	231344888		2194	4297	6491	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231344888G>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2015G>T	1.37:g.231344888G>T	ENSP00000355613:p.Arg672Met						p.R672M	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			8	2057	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	672			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.2015G>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324422	0.95708	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.86393	0.5922	M	0.87180	2.865	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	D	0.85113	0.0964	10	0.38643	T	0.18	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	672	Q6ZTA4	TRI67_HUMAN	M	670;672;610;672	ENSP00000412124:R670M;ENSP00000355612:R672M;ENSP00000400163:R610M;ENSP00000355613:R672M	ENSP00000355612:R672M	R	+	2	0	TRIM67	229411511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.760000	0.98935	2.854000	0.98071	0.655000	0.94253	AGG		0.627	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		19	101	1	0	3.51602e-12	0.008871	5.35046e-12	19	101				
PCNXL2	80003	broad.mit.edu	37	1	233296137	233296138	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:233296137_233296138CC>AA	ENST00000258229.9	-	19	3642_3643	c.3408_3409GG>TT	c.(3406-3411)gtGGgg>gtTTgg	p.G1137W	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.G270W	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1137						integral component of membrane (GO:0016021)		p.G1137W(1)		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)				GTTACAAACCCCACGGCTCCAG	0.5																																							uc001hvl.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(3406-3411)GTGGGG>GTTTGG		pecanex-like 2																																				SO:0001583	missense	80003					integral to membrane		g.chr1:233296137_233296138CC>AA	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.3408_3409delinsAA	1.37:g.233296137_233296138delinsAA	ENSP00000258229:p.Gly1137Trp					PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	p.G1137W	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			19	3643_3644	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1137			Helical; (Potential).		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	DNP	ENST00000258229.9	37	c.3408_3409GG>TT	CCDS44335.1																																																																																				0.500	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		16	60	0	0	0	0.004672	0	16	60				
LYST	1130	broad.mit.edu	37	1	235945360	235945360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:235945360C>A	ENST00000389794.3	-	15	5064	c.4890G>T	c.(4888-4890)atG>atT	p.M1630I	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.M1630I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1630					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.M1630I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTGGAAGCATAAAATCCA	0.318																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(4888-4890)ATG>ATT		lysosomal trafficking regulator							62.0	62.0	62.0					1																	235945360		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235945360C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4890G>T	1.37:g.235945360C>A	ENSP00000374444:p.Met1630Ile					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.M1630I	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		15	5065	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1630					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4890G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	9.897	1.205915	0.22205	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.60299	0.2;0.2	5.57	-0.994	0.10225	.	0.573799	0.20899	N	0.083676	T	0.25306	0.0615	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03503	-1.1030	10	0.23891	T	0.37	.	0.6645	0.00848	0.346:0.1815:0.1141:0.3584	.	1630	Q99698	LYST_HUMAN	I	1630	ENSP00000374444:M1630I;ENSP00000374443:M1630I	ENSP00000374443:M1630I	M	-	3	0	LYST	234011983	0.492000	0.26027	0.922000	0.36590	0.995000	0.86356	-0.318000	0.08050	0.117000	0.18138	0.650000	0.86243	ATG		0.318	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			14	30	1	0	1.49906e-05	0.00245	1.79654e-05	14	30				
RYR2	6262	broad.mit.edu	37	1	237550647	237550647	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237550647G>T	ENST00000366574.2	+	9	960	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	RYR2_ENST00000542537.1_Missense_Mutation_p.A199S|RYR2_ENST00000360064.6_Missense_Mutation_p.A213S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	215	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A213S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGAGCGTGGCCCCAATCAG	0.507																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(643-645)GCC>TCC		cardiac muscle ryanodine receptor							111.0	112.0	112.0					1																	237550647		1963	4154	6117	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.chr1:237550647G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.643G>T	1.37:g.237550647G>T	ENSP00000355533:p.Ala215Ser						p.A215S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	763	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	215			Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.643G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142058	0.37825	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98207	-4.79;-4.79;-4.79	5.43	5.43	0.79202	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	D	0.000013	D	0.95968	0.8687	L	0.36672	1.1	0.80722	D	1	P	0.44195	0.828	P	0.47251	0.542	D	0.94161	0.7414	10	0.07644	T	0.81	.	11.4922	0.50387	0.0837:0.0:0.9163:0.0	.	215	Q92736	RYR2_HUMAN	S	215;213;199	ENSP00000355533:A215S;ENSP00000353174:A213S;ENSP00000443798:A199S	ENSP00000353174:A213S	A	+	1	0	RYR2	235617270	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.477000	0.45180	2.557000	0.86248	0.591000	0.81541	GCC		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		46	104	1	0	1.32667e-27	0.00361	2.4207e-27	46	104				
RYR2	6262	broad.mit.edu	37	1	237732489	237732489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237732489G>T	ENST00000366574.2	+	29	3785	c.3468G>T	c.(3466-3468)tgG>tgT	p.W1156C	RYR2_ENST00000542537.1_Missense_Mutation_p.W1140C|RYR2_ENST00000360064.6_Missense_Mutation_p.W1154C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1156	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.W1154C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCGCTCTTGGCAAGCAGGCG	0.507																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3466-3468)TGG>TGT		cardiac muscle ryanodine receptor							117.0	117.0	117.0					1																	237732489		2083	4221	6304	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.chr1:237732489G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3468G>T	1.37:g.237732489G>T	ENSP00000355533:p.Trp1156Cys						p.W1156C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		29	3588	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1156			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3468G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.690060	0.88735	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60797	0.16;0.16;0.16	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	T	0.81216	0.4776	M	0.89163	3.01	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.80659	-0.1284	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1156	Q92736	RYR2_HUMAN	C	1156;1154;1140	ENSP00000355533:W1156C;ENSP00000353174:W1154C;ENSP00000443798:W1140C	ENSP00000353174:W1154C	W	+	3	0	RYR2	235799112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.805000	0.99149	2.941000	0.99782	0.655000	0.94253	TGG		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	54	1	0	8.12818e-05	0.001984	9.43997e-05	6	54				
RYR2	6262	broad.mit.edu	37	1	237777418	237777418	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237777418G>C	ENST00000366574.2	+	37	5307	c.4990G>C	c.(4990-4992)Gtc>Ctc	p.V1664L	RYR2_ENST00000542537.1_Missense_Mutation_p.V1648L|RYR2_ENST00000360064.6_Missense_Mutation_p.V1662L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4990-4992)GTC>CTC		cardiac muscle ryanodine receptor							65.0	66.0	65.0					1																	237777418		2026	4196	6222	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.chr1:237777418G>C	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.4990G>C	1.37:g.237777418G>C	ENSP00000355533:p.Val1664Leu						p.V1664L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5110	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1664			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4990G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	8.056	0.766962	0.15983	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96073	-3.9;-3.86;-3.89	5.78	5.78	0.91487	.	0.095940	0.42420	D	0.000720	D	0.88749	0.6521	N	0.10685	0.025	0.80722	D	1	B	0.16396	0.017	B	0.17433	0.018	D	0.84111	0.0401	10	0.02654	T	1	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1664	Q92736	RYR2_HUMAN	L	1664;1662;1648	ENSP00000355533:V1664L;ENSP00000353174:V1662L;ENSP00000443798:V1648L	ENSP00000353174:V1662L	V	+	1	0	RYR2	235844041	1.000000	0.71417	0.893000	0.35052	0.995000	0.86356	3.722000	0.54948	2.730000	0.93505	0.655000	0.94253	GTC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		29	51	0	0	0	0.009535	0	29	51				
RYR2	6262	broad.mit.edu	37	1	237944872	237944872	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237944872G>T	ENST00000366574.2	+	89	12205	c.11888G>T	c.(11887-11889)aGt>aTt	p.S3963I	RYR2_ENST00000542537.1_Missense_Mutation_p.S3947I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.S3969I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3963					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S3961I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGGATTCCAGTCAAATTGAG	0.338																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11887-11889)AGT>ATT		cardiac muscle ryanodine receptor							93.0	92.0	92.0					1																	237944872		1896	4158	6054	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.chr1:237944872G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11888G>T	1.37:g.237944872G>T	ENSP00000355533:p.Ser3963Ile					RYR2_uc010pya.1_Missense_Mutation_p.S378I	p.S3963I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	12008	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3963					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11888G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970935	0.92919	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97016	-4.21;-4.18;-4.21	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.97885	0.9305	M	0.65498	2.005	0.80722	D	1	P;D	0.89917	0.956;1.0	P;D	0.85130	0.698;0.997	D	0.98501	1.0614	10	0.87932	D	0	-12.495	19.7167	0.96124	0.0:0.0:1.0:0.0	.	937;3963	B4DGV4;Q92736	.;RYR2_HUMAN	I	3963;3969;3947;937	ENSP00000355533:S3963I;ENSP00000353174:S3969I;ENSP00000443798:S3947I	ENSP00000353174:S3969I	S	+	2	0	RYR2	236011495	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.813000	0.99286	2.667000	0.90743	0.655000	0.94253	AGT		0.338	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	7	1	0	4.68919e-08	0.008291	6.2631e-08	9	7				
RYR2	6262	broad.mit.edu	37	1	237947327	237947327	+	Silent	SNP	C	C	A	rs184625125		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237947327C>A	ENST00000366574.2	+	90	12632	c.12315C>A	c.(12313-12315)ctC>ctA	p.L4105L	RYR2_ENST00000542537.1_Silent_p.L4089L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L4111L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4105					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L4103L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGACAAACCTCTCTGAGCACA	0.512																																							uc001hyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12313-12315)CTC>CTA		cardiac muscle ryanodine receptor							52.0	51.0	51.0					1																	237947327		1989	4186	6175	SO:0001819	synonymous_variant	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.chr1:237947327C>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.12315C>A	1.37:g.237947327C>A						RYR2_uc010pya.1_Silent_p.L520L	p.L4105L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12435	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4105					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12315C>A	CCDS55691.1																																																																																				0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	42	1	0	0.00448238	0.004482	0.00488872	9	42				
FMN2	56776	broad.mit.edu	37	1	240494014	240494014	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:240494014G>A	ENST00000319653.9	+	11	4779	c.4549G>A	c.(4549-4551)Gac>Aac	p.D1517N	FMN2_ENST00000545751.1_Missense_Mutation_p.D113N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1517	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D1660N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTTGGATTAGACATTCTTCC	0.433																																							uc010pyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4549-4551)GAC>AAC		formin 2							136.0	126.0	129.0					1																	240494014		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240494014G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4549G>A	1.37:g.240494014G>A	ENSP00000318884:p.Asp1517Asn					FMN2_uc010pye.1_Missense_Mutation_p.D1521N|FMN2_uc010pyf.1_Missense_Mutation_p.D163N|FMN2_uc010pyg.1_Missense_Mutation_p.D113N	p.D1517N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		11	4774	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1517			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4549G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	36	5.763487	0.96906	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.46451	0.87;0.87	5.67	5.67	0.87782	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000005	T	0.62865	0.2463	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;0.985;1.0;0.97	D;P;D;D	0.91635	0.999;0.856;0.994;0.964	T	0.61758	-0.6997	10	0.56958	D	0.05	.	19.7714	0.96367	0.0:0.0:1.0:0.0	.	113;163;146;1517	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	N	1517;113;144	ENSP00000318884:D1517N;ENSP00000437918:D113N	ENSP00000318884:D1517N	D	+	1	0	FMN2	238560637	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.814000	0.99346	2.666000	0.90696	0.655000	0.94253	GAC		0.433	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	77	0	0	0	0.000602	0	5	77				
CHML	1122	broad.mit.edu	37	1	241798993	241798993	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:241798993C>A	ENST00000366553.1	-	1	239	c.76G>T	c.(76-78)Gca>Tca	p.A26S	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	26					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.A26S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTTGAACATGCAGCTGCAAGG	0.453																																							uc001hzd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(76-78)GCA>TCA		choroideremia-like Rab escort protein 2							110.0	112.0	111.0					1																	241798993		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798993C>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.76G>T	1.37:g.241798993C>A	ENSP00000355511:p.Ala26Ser					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.A26S	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	240	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	26					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.76G>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781508	0.70222	.	.	ENSG00000203668	ENST00000366553	D	0.86297	-2.1	5.52	4.59	0.56863	.	0.000000	0.85682	U	0.000000	D	0.92528	0.7627	.	.	.	0.41226	D	0.986545	D	0.63880	0.993	D	0.74023	0.982	D	0.92740	0.6207	9	0.51188	T	0.08	-8.548	12.8407	0.57800	0.0:0.8367:0.1633:0.0	.	26	P26374	RAE2_HUMAN	S	26	ENSP00000355511:A26S	ENSP00000355511:A26S	A	-	1	0	CHML	239865616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.475000	0.53136	1.441000	0.47550	0.655000	0.94253	GCA		0.453	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		27	142	1	0	2.44723e-14	0.004656	3.90543e-14	27	142				
NLRP3	114548	broad.mit.edu	37	1	247587718	247587718	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247587718G>A	ENST00000336119.3	+	3	1719	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	NLRP3_ENST00000391828.3_Missense_Mutation_p.A325T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A325T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A325T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A325T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A325T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	325	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.A325T(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGGCAGAAGGCCGAGCGGGG	0.572																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(973-975)GCC>ACC		NLR family, pyrin domain containing 3 isoform a							61.0	63.0	62.0					1																	247587718		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587718G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.973G>A	1.37:g.247587718G>A	ENSP00000337383:p.Ala325Thr					NLRP3_uc001ics.2_Missense_Mutation_p.A325T|NLRP3_uc001icu.2_Missense_Mutation_p.A325T|NLRP3_uc001icw.2_Missense_Mutation_p.A325T|NLRP3_uc001icv.2_Missense_Mutation_p.A325T|NLRP3_uc010pyw.1_Missense_Mutation_p.A323T|NLRP3_uc001ict.1_Missense_Mutation_p.A323T	p.A325T	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1111	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	325			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.973G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254617	0.22965	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.04	3.1	0.35709	NACHT nucleoside triphosphatase (1);	0.431904	0.19916	N	0.103194	T	0.66519	0.2797	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.31730	0.012;0.041;0.337;0.051;0.122	B;B;B;B;B	0.36186	0.039;0.05;0.149;0.097;0.219	T	0.57888	-0.7733	10	0.38643	T	0.18	.	9.0869	0.36587	0.0:0.0:0.7819:0.2181	.	325;325;325;325;325	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	325	ENSP00000375704:A325T;ENSP00000355453:A325T;ENSP00000337383:A325T;ENSP00000294752:A325T;ENSP00000355452:A325T;ENSP00000375703:A325T	ENSP00000337383:A325T	A	+	1	0	NLRP3	245654341	0.001000	0.12720	0.052000	0.19188	0.884000	0.51177	0.151000	0.16283	1.244000	0.43870	0.563000	0.77884	GCC		0.572	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		5	105	0	0	0	0.001168	0	5	105				
NLRP3	114548	broad.mit.edu	37	1	247587916	247587916	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247587916C>A	ENST00000336119.3	+	3	1917	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	NLRP3_ENST00000391828.3_Missense_Mutation_p.Q391K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q391K|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q391K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q391K|NLRP3_ENST00000366497.2_Missense_Mutation_p.Q391K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	391	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.Q391K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGATGAGGCCCAAGCCAGGGC	0.537																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1171-1173)CAA>AAA		NLR family, pyrin domain containing 3 isoform a							77.0	65.0	69.0					1																	247587916		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587916C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1171C>A	1.37:g.247587916C>A	ENSP00000337383:p.Gln391Lys					NLRP3_uc001ics.2_Missense_Mutation_p.Q391K|NLRP3_uc001icu.2_Missense_Mutation_p.Q391K|NLRP3_uc001icw.2_Missense_Mutation_p.Q391K|NLRP3_uc001icv.2_Missense_Mutation_p.Q391K|NLRP3_uc010pyw.1_Missense_Mutation_p.Q389K|NLRP3_uc001ict.1_Missense_Mutation_p.Q389K	p.Q391K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1309	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	391			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1171C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	9.491	1.100715	0.20552	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.75050	-0.82;-0.84;-0.82;-0.9;-0.84;-0.86	4.17	3.26	0.37387	NACHT nucleoside triphosphatase (1);	0.138332	0.33732	N	0.004602	T	0.73094	0.3543	L	0.37630	1.12	0.09310	N	0.999997	P;B;D;B;B	0.54772	0.907;0.164;0.968;0.357;0.057	P;B;P;B;B	0.59703	0.628;0.154;0.862;0.316;0.082	T	0.61158	-0.7119	10	0.30854	T	0.27	.	8.0603	0.30629	0.0:0.891:0.0:0.109	.	391;391;391;391;391	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	391	ENSP00000375704:Q391K;ENSP00000355453:Q391K;ENSP00000337383:Q391K;ENSP00000294752:Q391K;ENSP00000355452:Q391K;ENSP00000375703:Q391K	ENSP00000337383:Q391K	Q	+	1	0	NLRP3	245654539	0.000000	0.05858	0.045000	0.18777	0.001000	0.01503	0.539000	0.23175	1.351000	0.45789	-0.140000	0.14226	CAA		0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		25	46	1	0	4.72057e-08	0.003954	6.2941e-08	25	46				
OR14A16	284532	broad.mit.edu	37	1	247978156	247978156	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247978156C>A	ENST00000357627.1	-	1	875	c.876G>T	c.(874-876)aaG>aaT	p.K292N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K292N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CCTTTATGGCCTTGTTTCTCA	0.378																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(874-876)AAG>AAT		olfactory receptor, family 14, subfamily A,							63.0	61.0	62.0					1																	247978156		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978156C>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.876G>T	1.37:g.247978156C>A	ENSP00000350248:p.Lys292Asn						p.K292N	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	876	-			292			Cytoplasmic (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.876G>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637309	0.14386	.	.	ENSG00000196772	ENST00000357627	T	0.45668	0.89	3.69	-1.27	0.09347	.	2.192990	0.03227	U	0.178397	T	0.46132	0.1377	M	0.82923	2.615	0.09310	N	0.999999	B	0.24823	0.112	B	0.24701	0.055	T	0.43130	-0.9410	10	0.87932	D	0	.	4.2097	0.10505	0.3019:0.4505:0.0:0.2476	.	292	Q8NHC5	O14AG_HUMAN	N	292	ENSP00000350248:K292N	ENSP00000350248:K292N	K	-	3	2	OR14A16	246044779	0.001000	0.12720	0.088000	0.20740	0.421000	0.31385	-0.295000	0.08298	-0.138000	0.11434	0.596000	0.82720	AAG		0.378	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		17	53	1	0	3.62473e-10	0.001882	5.25126e-10	17	53				
OR14A16	284532	broad.mit.edu	37	1	247978337	247978337	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:247978337T>A	ENST00000357627.1	-	1	694	c.695A>T	c.(694-696)cAg>cTg	p.Q232L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q232L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGCTTTTGACTGGCCTTCTGT	0.408																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(694-696)CAG>CTG		olfactory receptor, family 14, subfamily A,							102.0	105.0	104.0					1																	247978337		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978337T>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.695A>T	1.37:g.247978337T>A	ENSP00000350248:p.Gln232Leu						p.Q232L	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	695	-			232			Cytoplasmic (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.695A>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101645	0.76983	.	.	ENSG00000196772	ENST00000357627	T	0.00137	8.68	3.73	-4.85	0.03142	GPCR, rhodopsin-like superfamily (1);	1.394480	0.05556	U	0.568395	T	0.00241	0.0007	L	0.37507	1.11	0.09310	N	1	D	0.54964	0.969	P	0.62298	0.9	T	0.40001	-0.9586	10	0.87932	D	0	.	9.9872	0.41849	0.0:0.6341:0.134:0.232	.	232	Q8NHC5	O14AG_HUMAN	L	232	ENSP00000350248:Q232L	ENSP00000350248:Q232L	Q	-	2	0	OR14A16	246044960	0.000000	0.05858	0.000000	0.03702	0.635000	0.38103	-0.800000	0.04555	-0.914000	0.03827	0.486000	0.48141	CAG		0.408	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		5	37	0	0	0	0.001984	0	5	37				
OR2AK2	391191	broad.mit.edu	37	1	248128744	248128744	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248128744G>C	ENST00000366480.3	+	1	210	c.111G>C	c.(109-111)tgG>tgC	p.W37C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W37C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AATATGGCTGGATAAACTCTC	0.413																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(109-111)TGG>TGC		olfactory receptor, family 2, subfamily AK,							173.0	167.0	169.0					1																	248128744		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128744G>C	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.111G>C	1.37:g.248128744G>C	ENSP00000355436:p.Trp37Cys					OR2L13_uc001ids.2_Intron	p.W37C	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	111	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		37			Extracellular (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.111G>C	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	3.674	-0.066968	0.07273	.	.	ENSG00000187080	ENST00000366480	T	0.00428	7.44	3.07	-2.4	0.06583	.	.	.	.	.	T	0.00271	0.0008	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34030	-0.9845	9	0.66056	D	0.02	.	4.8829	0.13688	0.5169:0.1585:0.3246:0.0	.	37	Q8NG84	O2AK2_HUMAN	C	37	ENSP00000355436:W37C	ENSP00000355436:W37C	W	+	3	0	OR2AK2	246195367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.617000	0.00881	-0.361000	0.08125	-0.424000	0.05967	TGG		0.413	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		24	282	0	0	0	0.002299	0	24	282				
OR2M2	391194	broad.mit.edu	37	1	248344254	248344254	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248344254T>C	ENST00000359682.2	+	1	967	c.967T>C	c.(967-969)Ttt>Ctt	p.F323L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F323L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTTTTGCTGTTTGCTAAATT	0.363																																							uc010pzf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(967-969)TTT>CTT		olfactory receptor, family 2, subfamily M,							203.0	211.0	208.0					1																	248344254		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344254T>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.967T>C	1.37:g.248344254T>C	ENSP00000352710:p.Phe323Leu						p.F323L	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	967	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		323			Cytoplasmic (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.967T>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	3.627	-0.076299	0.07184	.	.	ENSG00000198601	ENST00000359682	T	0.19105	2.17	2.09	0.937	0.19494	.	.	.	.	.	T	0.09113	0.0225	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.34775	-0.9815	9	0.20519	T	0.43	.	3.5239	0.07752	0.0:0.3921:0.0:0.6078	.	323	Q96R28	OR2M2_HUMAN	L	323	ENSP00000352710:F323L	ENSP00000352710:F323L	F	+	1	0	OR2M2	246410877	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.238000	0.08977	0.957000	0.37930	0.327000	0.21459	TTT		0.363	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		21	296	0	0	0	0.001882	0	21	296				
OR2M7	391196	broad.mit.edu	37	1	248487667	248487667	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248487667G>C	ENST00000317965.2	-	1	232	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGGTCCATGAGGGACAGTT	0.512																																							uc010pzk.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(202-204)CTC>CTG		olfactory receptor, family 2, subfamily M,							293.0	278.0	283.0					1																	248487667		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487667G>C	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.204C>G	1.37:g.248487667G>C							p.L68L	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	204	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		68			Helical; Name=2; (Potential).		B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.204C>G	CCDS31111.1																																																																																				0.512	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		62	452	0	0	0	0.00361	0	62	452				
OR2T4	127074	broad.mit.edu	37	1	248525501	248525501	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248525501C>T	ENST00000366475.1	+	1	619	c.619C>T	c.(619-621)Cat>Tat	p.H207Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H207Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGGGAGATTCATCATTTCTT	0.498																																							uc001ieh.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(619-621)CAT>TAT		olfactory receptor, family 2, subfamily T,							192.0	183.0	186.0					1																	248525501		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525501C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.619C>T	1.37:g.248525501C>T	ENSP00000355431:p.His207Tyr						p.H207Y	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	619	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		207			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.619C>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	0.292	-0.979511	0.02197	.	.	ENSG00000196944	ENST00000366475	T	0.00198	8.57	3.61	-3.41	0.04839	GPCR, rhodopsin-like superfamily (1);	0.584872	0.15469	N	0.260721	T	0.00144	0.0004	L	0.49126	1.545	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.45920	-0.9228	10	0.54805	T	0.06	.	1.5643	0.02601	0.4103:0.303:0.1057:0.1811	.	207	Q8NH00	OR2T4_HUMAN	Y	207	ENSP00000355431:H207Y	ENSP00000355431:H207Y	H	+	1	0	OR2T4	246592124	0.000000	0.05858	0.002000	0.10522	0.351000	0.29236	-0.963000	0.03837	-0.232000	0.09811	-0.985000	0.02557	CAT		0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		29	270	0	0	0	0.00632	0	29	270				
OR2T4	127074	broad.mit.edu	37	1	248525656	248525656	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248525656C>G	ENST00000366475.1	+	1	774	c.774C>G	c.(772-774)caC>caG	p.H258Q		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H258Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACCATCCACGGGATGAACT	0.512																																							uc001ieh.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(772-774)CAC>CAG		olfactory receptor, family 2, subfamily T,							128.0	126.0	127.0					1																	248525656		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525656C>G	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.774C>G	1.37:g.248525656C>G	ENSP00000355431:p.His258Gln						p.H258Q	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	774	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		258			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.774C>G	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	2.695	-0.272394	0.05716	.	.	ENSG00000196944	ENST00000366475	T	0.00076	8.76	3.09	-0.174	0.13319	GPCR, rhodopsin-like superfamily (1);	0.449982	0.18684	N	0.134071	T	0.00109	0.0003	L	0.31065	0.9	0.09310	N	1	P	0.37352	0.591	B	0.39876	0.312	T	0.22591	-1.0212	10	0.49607	T	0.09	.	5.6838	0.17790	0.0:0.4876:0.282:0.2304	.	258	Q8NH00	OR2T4_HUMAN	Q	258	ENSP00000355431:H258Q	ENSP00000355431:H258Q	H	+	3	2	OR2T4	246592279	0.000000	0.05858	0.732000	0.30844	0.091000	0.18340	-3.308000	0.00518	0.490000	0.27771	0.585000	0.79938	CAC		0.512	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		29	203	0	0	0	0.008361	0	29	203				
OR2T6	254879	broad.mit.edu	37	1	248551682	248551682	+	Missense_Mutation	SNP	C	C	T	rs141134612	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:248551682C>T	ENST00000355728.2	+	1	773	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T258M(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTGTATACGTATACGCTT	0.473													c|||	2	0.000399361	0.0	0.0014	5008	,	,		23361	0.0		0.001	False		,,,				2504	0.0						uc001iei.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(772-774)ACG>ATG		olfactory receptor, family 2, subfamily T,		C	MET/THR	0,4406		0,0,2203	199.0	181.0	187.0		773	2.1	0.7	1	dbSNP_134	187	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T6	NM_001005471.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	258/309	248551682	1,13005	2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551682C>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.773C>T	1.37:g.248551682C>T	ENSP00000347965:p.Thr258Met						p.T258M	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	773	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		258			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.773C>T	CCDS31114.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.610	0.480908	0.12581	0.0	1.16E-4	ENSG00000198104	ENST00000355728	T	0.00036	8.86	4.02	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.145381	0.32273	N	0.006334	T	0.00144	0.0004	N	0.05383	-0.06	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58375	-0.7647	10	0.27785	T	0.31	.	4.9011	0.13775	0.0:0.5633:0.165:0.2717	.	258	Q8NHC8	OR2T6_HUMAN	M	258	ENSP00000347965:T258M	ENSP00000347965:T258M	T	+	2	0	OR2T6	246618305	0.000000	0.05858	0.674000	0.29902	0.006000	0.05464	-0.301000	0.08232	1.038000	0.40049	-0.152000	0.13540	ACG		0.473	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		21	83	0	0	0	0.008871	0	21	83				
ADARB2	105	broad.mit.edu	37	10	1229175	1229175	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:1229175C>T	ENST00000381312.1	-	10	2503	c.2178G>A	c.(2176-2178)gtG>gtA	p.V726V	ADARB2_ENST00000381310.3_Silent_p.V235V|ADARB2_ENST00000381305.1_Silent_p.V128V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	726	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.V726V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGGTTTCCTCACCCAGGTGC	0.617																																							uc009xhq.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(2176-2178)GTG>GTA		adenosine deaminase, RNA-specific, B2							53.0	47.0	49.0					10																	1229175		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1229175C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2178G>A	10.37:g.1229175C>T						uc001igj.1_5'Flank|ADARB2_uc009xhp.2_Silent_p.V110V|ADARB2_uc001igl.3_Silent_p.V88V|ADARB2_uc001igm.3_Silent_p.V235V	p.V726V	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	10	2552	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	726			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.2178G>A	CCDS7058.1																																																																																				0.617	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		7	21	0	0	0	0.001984	0	7	21				
PRKCQ	5588	broad.mit.edu	37	10	6498661	6498661	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:6498661C>A	ENST00000263125.5	-	15	1721	c.1622G>T	c.(1621-1623)gGg>gTg	p.G541V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.G416V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G541V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.G541V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GTCAGGTGTCCCACAGAAGGT	0.498																																					Ovarian(50;572 1126 10530 25349 30594)	Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(1621-1623)GGG>GTG		protein kinase C, theta							255.0	195.0	215.0					10																	6498661		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6498661C>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1622G>T	10.37:g.6498661C>A	ENSP00000263125:p.Gly541Val					PRKCQ_uc009xim.1_Missense_Mutation_p.G541V|PRKCQ_uc001iji.1_Missense_Mutation_p.G574V|PRKCQ_uc009xin.1_Missense_Mutation_p.G505V|PRKCQ_uc010qax.1_Missense_Mutation_p.G416V	p.G541V	NM_006257	NP_006248	Q04759	KPCT_HUMAN			15	1697	-			541			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1622G>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.57|17.57	3.421326|3.421326	0.62622|0.62622	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.73789|.	-0.78;-0.78;-0.78|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|.	0.87116|.	0.6097|.	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|.	0.90312|.	0.4338|.	10|.	0.87932|0.87932	D|D	0|0	.|.	19.1852|19.1852	0.93641|0.93641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	416;313;541;541|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|X	541;541;416|314	ENSP00000263125:G541V;ENSP00000380361:G541V;ENSP00000441752:G416V|.	ENSP00000263125:G541V|ENSP00000380363:G314X	G|G	-|-	2|1	0|0	PRKCQ|PRKCQ	6538667|6538667	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.096000|0.096000	0.18686|0.18686	7.573000|7.573000	0.82421|0.82421	2.510000|2.510000	0.84645|0.84645	0.557000|0.557000	0.71058|0.71058	GGG|GGA		0.498	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		14	57	1	0	1.05317e-09	0.00245	1.50035e-09	14	57				
GATA3	2625	broad.mit.edu	37	10	8100776	8100776	+	Silent	SNP	G	G	A	rs2228255		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:8100776G>A	ENST00000346208.3	+	3	1205	c.750G>A	c.(748-750)aaG>aaA	p.K250K	GATA3_ENST00000379328.3_Silent_p.K250K|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	250					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.K250K(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCGGATGCAAGTCCAGGCCCA	0.667			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - coding silent(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(748-750)AAG>AAA		GATA binding protein 3 isoform 2							24.0	28.0	26.0					10																	8100776		2202	4295	6497	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100776G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.750G>A	10.37:g.8100776G>A						GATA3_uc001ijz.2_Silent_p.K250K	p.K250K	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	1307	+			250					Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.750G>A	CCDS7083.1																																																																																				0.667	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		15	38	0	0	0	0.007413	0	15	38				
FAM107B	83641	broad.mit.edu	37	10	14816390	14816390	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:14816390C>A	ENST00000181796.2	-	1	506	c.273G>T	c.(271-273)cgG>cgT	p.R91R		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)			p.R91R(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACTTGAATTCCGATTCGCAC	0.592																																							uc001ina.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(4)	4						c.(271-273)CGG>CGT		hypothetical protein LOC83641							163.0	159.0	161.0					10																	14816390		2203	4300	6503	SO:0001819	synonymous_variant	83641							g.chr10:14816390C>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.273G>T	10.37:g.14816390C>A						FAM107B_uc010qbu.1_RNA	p.R91R	NM_031453	NP_113641	Q9H098	F107B_HUMAN			1	507	-			Error:Variant_position_missing_in_Q9H098_after_alignment					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	ENST00000181796.2	37	c.273G>T	CCDS7102.1																																																																																				0.592	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		34	197	1	0	2.40579e-17	0.00623	4.04909e-17	34	197				
DCLRE1C	64421	broad.mit.edu	37	10	14974866	14974866	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:14974866C>A	ENST00000378278.2	-	9	804	c.767G>T	c.(766-768)tGc>tTc	p.C256F	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.C141F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.C136F|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.C136F|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.C256F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.C141F|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.C141F|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.C136F			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	256					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.C141F(1)|p.C256F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGATGCCGGCATGCATGGAT	0.438								Non-homologous end-joining																															uc001inn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(766-768)TGC>TTC	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							234.0	192.0	206.0					10																	14974866		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14974866C>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.767G>T	10.37:g.14974866C>A	ENSP00000367527:p.Cys256Phe					DCLRE1C_uc010qbx.1_Missense_Mutation_p.C256F|DCLRE1C_uc001inl.2_Missense_Mutation_p.C136F|DCLRE1C_uc009xji.2_Missense_Mutation_p.C141F|DCLRE1C_uc001inm.2_Missense_Mutation_p.C136F|DCLRE1C_uc001ino.2_Missense_Mutation_p.C141F|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.C136F|DCLRE1C_uc001inq.2_Missense_Mutation_p.C136F|DCLRE1C_uc001inr.2_Missense_Mutation_p.C141F|DCLRE1C_uc009xjj.1_RNA	p.C256F	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			9	852	-			256					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.767G>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509549	0.44660	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843	T;T;T;T;T;T;T;T;T;T;D	0.88201	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;-2.35	5.3	4.4	0.53042	DNA repair metallo-beta-lactamase (1);	0.087354	0.85682	D	0.000000	D	0.94125	0.8116	M	0.82056	2.57	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.994;0.999	D;P;D	0.83275	0.994;0.89;0.996	D	0.94610	0.7803	10	0.87932	D	0	.	13.772	0.63032	0.0:0.9261:0.0:0.0739	.	256;141;256	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	F	256;136;141;141;141;136;136;136;256;136;110	ENSP00000367538:C256F;ENSP00000400529:C136F;ENSP00000367492:C141F;ENSP00000350349:C141F;ENSP00000367496:C141F;ENSP00000380030:C136F;ENSP00000367503:C136F;ENSP00000367502:C136F;ENSP00000367527:C256F;ENSP00000367506:C136F;ENSP00000391428:C110F	ENSP00000350349:C141F	C	-	2	0	DCLRE1C	15014872	1.000000	0.71417	0.228000	0.23943	0.035000	0.12851	7.586000	0.82596	1.230000	0.43646	0.650000	0.86243	TGC		0.438	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		63	168	1	0	6.00099e-30	0.00361	1.10943e-29	63	168				
CUBN	8029	broad.mit.edu	37	10	16990513	16990513	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:16990513C>T	ENST00000377833.4	-	35	5238	c.5173G>A	c.(5173-5175)Ggg>Agg	p.G1725R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1725	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G1725R(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAAACCCCCAGCACTGATG	0.512																																							uc001ioo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(5173-5175)GGG>AGG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						86.0	73.0	77.0					10																	16990513		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16990513C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5173G>A	10.37:g.16990513C>T	ENSP00000367064:p.Gly1725Arg						p.G1725R	NM_001081	NP_001072	O60494	CUBN_HUMAN			35	5225	-			1725			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5173G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	6.857	0.527444	0.13066	.	.	ENSG00000107611	ENST00000377833	T	0.15952	2.38	5.55	2.65	0.31530	CUB (5);	2.784540	0.01338	N	0.011467	T	0.06917	0.0176	N	0.02111	-0.68	0.22412	N	0.999122	B	0.09022	0.002	B	0.11329	0.006	T	0.31052	-0.9957	10	0.16420	T	0.52	.	3.245	0.06794	0.0:0.4457:0.2043:0.35	.	1725	O60494	CUBN_HUMAN	R	1725	ENSP00000367064:G1725R	ENSP00000367064:G1725R	G	-	1	0	CUBN	17030519	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.320000	0.19540	0.677000	0.31305	0.655000	0.94253	GGG		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	43	0	0	0	0.001984	0	7	43				
ST8SIA6	338596	broad.mit.edu	37	10	17369028	17369028	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:17369028G>T	ENST00000377602.4	-	6	694	c.620C>A	c.(619-621)tCc>tAc	p.S207Y		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	207					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.S207Y(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AACGAAGTCGGATTTATCTAT	0.393																																							uc001ipd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)TCC>TAC		ST8 alpha-N-acetyl-neuraminide							100.0	96.0	98.0					10																	17369028		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17369028G>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.620C>A	10.37:g.17369028G>T	ENSP00000366827:p.Ser207Tyr					ST8SIA6_uc010qce.1_Intron	p.S207Y	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			6	620	-			207			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.620C>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697651	0.68386	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.28666	1.6	4.95	4.05	0.47172	.	0.156072	0.64402	D	0.000017	T	0.37404	0.1002	L	0.49126	1.545	0.48452	D	0.99965	P	0.47106	0.89	P	0.52189	0.692	T	0.08371	-1.0725	10	0.15952	T	0.53	-1.7026	13.6823	0.62493	0.0745:0.0:0.9255:0.0	.	207	P61647	SIA8F_HUMAN	Y	37;207	ENSP00000366827:S207Y	ENSP00000366827:S207Y	S	-	2	0	ST8SIA6	17409034	1.000000	0.71417	0.055000	0.19348	0.985000	0.73830	6.910000	0.75741	1.447000	0.47661	0.655000	0.94253	TCC		0.393	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		16	53	1	0	1.67942e-08	0.006122	2.29485e-08	16	53				
SLC39A12	221074	broad.mit.edu	37	10	18242230	18242230	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:18242230G>T	ENST00000377369.2	+	2	298	c.25G>T	c.(25-27)Gta>Tta	p.V9L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.V9L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.V9L|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	9					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.V9L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAAGCTCTCAGTATCCTGGGT	0.507																																							uc001ipo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(25-27)GTA>TTA		solute carrier family 39 (zinc transporter),							119.0	120.0	120.0					10																	18242230		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242230G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.25G>T	10.37:g.18242230G>T	ENSP00000366586:p.Val9Leu					SLC39A12_uc001ipn.2_Missense_Mutation_p.V9L|SLC39A12_uc001ipp.2_Missense_Mutation_p.V9L|SLC39A12_uc010qck.1_Intron	p.V9L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			2	298	+			9			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.25G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	9.160	1.018505	0.19355	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.18016	2.24;2.24;2.24	5.57	-0.16	0.13375	.	1.535660	0.03588	N	0.231270	T	0.18215	0.0437	L	0.60455	1.87	0.09310	N	1	B;B;B	0.22146	0.001;0.0;0.065	B;B;B	0.21151	0.003;0.001;0.033	T	0.28299	-1.0048	10	0.27785	T	0.31	-0.0011	6.368	0.21465	0.3466:0.0:0.535:0.1183	.	9;9;9	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	9	ENSP00000366586:V9L;ENSP00000366591:V9L;ENSP00000366588:V9L	ENSP00000366586:V9L	V	+	1	0	SLC39A12	18282236	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.364000	0.20325	-0.019000	0.14055	-0.122000	0.15005	GTA		0.507	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		38	81	1	0	8.73648e-17	0.004289	1.45766e-16	38	81				
CACNB2	783	broad.mit.edu	37	10	18439905	18439905	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:18439905G>T	ENST00000324631.7	+	2	273		c.e2+1		CACNB2_ENST00000282343.8_Splice_Site|CACNB2_ENST00000377328.1_Splice_Site|CACNB2_ENST00000352115.6_Splice_Site|CACNB2_ENST00000377331.2_Splice_Site|CACNB2_ENST00000467034.1_Splice_Site	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTCGCCAGGTAAGAGTTTT	0.328																																							uc001ipr.2		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.e2+1		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						130.0	135.0	133.0					10																	18439905		2203	4300	6503	SO:0001630	splice_region_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18439905G>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.213+1G>T	10.37:g.18439905G>T						CACNB2_uc009xjz.1_Splice_Site_p.Q71_splice|CACNB2_uc001ips.2_Splice_Site_p.Q71_splice|CACNB2_uc001ipt.2_Splice_Site_p.Q71_splice|CACNB2_uc010qcl.1_Splice_Site|CACNB2_uc001ipu.2_Splice_Site_p.Q43_splice|CACNB2_uc001ipv.2_Splice_Site_p.Q43_splice|CACNB2_uc009xka.1_Splice_Site_p.Q43_splice	p.Q71_splice	NM_201596	NP_963890	Q08289	CACB2_HUMAN			2	273	+								A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Splice_Site	SNP	ENST00000324631.7	37	c.213_splice	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716368	0.68844	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1254	0.93380	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNB2	18479911	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	8.365000	0.90108	2.826000	0.97356	0.655000	0.94253	.		0.328	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	Intron	32	109	1	0	1.62565e-12	0.002445	2.48609e-12	32	109				
SPAG6	9576	broad.mit.edu	37	10	22680766	22680766	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:22680766C>A	ENST00000376624.3	+	8	1256	c.1114C>A	c.(1114-1116)Cgg>Agg	p.R372R	SPAG6_ENST00000376603.2_Silent_p.R448R|SPAG6_ENST00000376601.1_Silent_p.R133R|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Silent_p.R372R|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Silent_p.R347R	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	372					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R372R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGAACACGCACGGGCTGTTGC	0.453																																							uc001iri.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1114-1116)CGG>AGG		sperm associated antigen 6 isoform 1							122.0	113.0	116.0					10																	22680766		2203	4300	6503	SO:0001819	synonymous_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22680766C>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1114C>A	10.37:g.22680766C>A						SPAG6_uc001irj.2_Silent_p.R372R|SPAG6_uc010qct.1_Silent_p.R342R|SPAG6_uc009xkh.2_Silent_p.R350R	p.R372R	NM_012443	NP_036575	O75602	SPAG6_HUMAN			8	1256	+			372			ARM 8.		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	ENST00000376624.3	37	c.1114C>A	CCDS7139.1																																																																																				0.453	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			22	68	1	0	8.10497e-08	0.010504	1.07323e-07	22	68				
ARHGAP21	57584	broad.mit.edu	37	10	24910126	24910126	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:24910126C>A	ENST00000396432.2	-	9	1184	c.698G>T	c.(697-699)aGt>aTt	p.S233I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S20I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	232					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.S232I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TACTGGTGTACTGGTTTGCTG	0.483																																							uc001isb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(697-699)AGT>ATT		Rho GTPase activating protein 21							100.0	89.0	93.0					10																	24910126		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24910126C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.698G>T	10.37:g.24910126C>A	ENSP00000379709:p.Ser233Ile					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.S233I|ARHGAP21_uc010qdc.1_Missense_Mutation_p.S68I|ARHGAP21_uc001isc.1_Missense_Mutation_p.S223I	p.S233I	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			9	1185	-			232					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.698G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671000	0.29693	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.50548	2.73;2.55;0.74;0.79	5.35	0.951	0.19579	.	0.547984	0.22217	N	0.063015	T	0.51007	0.1649	L	0.57536	1.79	0.09310	N	0.999998	P;P	0.46952	0.887;0.835	P;P	0.46253	0.509;0.467	T	0.56679	-0.7939	10	0.72032	D	0.01	.	17.4238	0.87521	0.0:0.5203:0.4797:0.0	.	223;232	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	233;222;20;223;233;68	ENSP00000379709:S233I;ENSP00000365604:S20I;ENSP00000365592:S223I;ENSP00000405018:S233I	ENSP00000365604:S20I	S	-	2	0	ARHGAP21	24950132	0.502000	0.26107	0.056000	0.19401	0.364000	0.29643	1.118000	0.31246	0.295000	0.22570	0.650000	0.86243	AGT		0.483	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		8	105	1	0	1.12685e-05	0.004482	1.36427e-05	8	105				
GPR158	57512	broad.mit.edu	37	10	25887045	25887045	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:25887045G>T	ENST00000376351.3	+	11	2849	c.2490G>T	c.(2488-2490)gaG>gaT	p.E830D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	830					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E830D(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAACGGAAGAGTCCAGTAGCC	0.463																																							uc001isj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2488-2490)GAG>GAT		G protein-coupled receptor 158 precursor							119.0	129.0	126.0					10																	25887045		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887045G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2490G>T	10.37:g.25887045G>T	ENSP00000365529:p.Glu830Asp					GPR158_uc001isk.2_Missense_Mutation_p.E205D	p.E830D	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2550	+			830			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2490G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974464	0.34848	.	.	ENSG00000151025	ENST00000376351	T	0.60672	0.17	5.79	0.448	0.16614	.	0.494918	0.18839	N	0.129722	T	0.26738	0.0654	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08006	-1.0743	10	0.14656	T	0.56	.	1.4044	0.02277	0.1922:0.2361:0.3682:0.2034	.	830	Q5T848	GP158_HUMAN	D	830	ENSP00000365529:E830D	ENSP00000365529:E830D	E	+	3	2	GPR158	25927051	0.000000	0.05858	0.001000	0.08648	0.808000	0.45660	-0.321000	0.08018	0.047000	0.15862	0.650000	0.86243	GAG		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		37	132	1	0	1.49673e-21	0.00623	2.61038e-21	37	132				
MYO3A	53904	broad.mit.edu	37	10	26457663	26457663	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:26457663T>A	ENST00000265944.5	+	28	3300	c.3134T>A	c.(3133-3135)gTg>gAg	p.V1045E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1045	Myosin motor.		V -> M (in dbSNP:rs35447806). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V1045E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATTATCACGTGGAGCAGTTA	0.348																																							uc001isn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3133-3135)GTG>GAG		myosin IIIA							106.0	103.0	104.0					10																	26457663		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26457663T>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3134T>A	10.37:g.26457663T>A	ENSP00000265944:p.Val1045Glu					MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.V1045E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			28	3494	+			1045					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3134T>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306277	0.81247	.	.	ENSG00000095777	ENST00000265944	T	0.72282	-0.64	5.49	5.49	0.81192	Myosin head, motor domain (1);	0.059492	0.64402	D	0.000003	T	0.80899	0.4712	M	0.74647	2.275	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	T	0.83037	-0.0159	10	0.87932	D	0	.	10.2671	0.43462	0.0:0.0741:0.0:0.9259	.	1045	Q8NEV4	MYO3A_HUMAN	E	1045	ENSP00000265944:V1045E	ENSP00000265944:V1045E	V	+	2	0	MYO3A	26497669	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.412000	0.66392	2.194000	0.70268	0.533000	0.62120	GTG		0.348	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		6	76	0	0	0	0.001984	0	6	76				
GAD2	2572	broad.mit.edu	37	10	26518625	26518625	+	Silent	SNP	C	C	A	rs145045666		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:26518625C>A	ENST00000376261.3	+	7	1262	c.759C>A	c.(757-759)atC>atA	p.I253I	GAD2_ENST00000259271.3_Silent_p.I253I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	253					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.I253I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCATGATGATCGCACGCTTTA	0.428																																							uc001isp.2		NA																	2	Substitution - coding silent(2)	p.I253I(1)	lung(1)|skin(1)	central_nervous_system(1)|skin(1)	2						c.(757-759)ATC>ATA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						222.0	179.0	193.0					10																	26518625		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26518625C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.759C>A	10.37:g.26518625C>A						GAD2_uc001isq.2_Silent_p.I253I	p.I253I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			7	1262	+			253					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.759C>A	CCDS7149.1																																																																																				0.428	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		11	53	1	0	1.08611e-07	0.000978	1.42471e-07	11	53				
SVIL	6840	broad.mit.edu	37	10	29784046	29784046	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:29784046G>A	ENST00000355867.4	-	19	4481	c.3729C>T	c.(3727-3729)acC>acT	p.T1243T	SVIL_ENST00000375400.3_Silent_p.T817T|SVIL_ENST00000535393.1_Silent_p.T157T|SVIL_ENST00000538146.1_Silent_p.T35T|SVIL_ENST00000375398.2_Silent_p.T1243T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1243					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.T1243T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGGGTGTGGTGCCTCTTG	0.552																																							uc001iut.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3727-3729)ACC>ACT		supervillin isoform 2							66.0	67.0	67.0					10																	29784046		2202	4296	6498	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29784046G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3729C>T	10.37:g.29784046G>A						SVIL_uc010qdw.1_Silent_p.T157T|SVIL_uc001iuu.1_Silent_p.T817T|SVIL_uc009xlc.2_Silent_p.T35T	p.T1243T	NM_021738	NP_068506	O95425	SVIL_HUMAN			19	4482	-		Breast(68;0.103)	1243					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.3729C>T	CCDS7164.1																																																																																				0.552	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			8	31	0	0	0	0.001368	0	8	31				
SVIL	6840	broad.mit.edu	37	10	29812503	29812503	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:29812503C>T	ENST00000355867.4	-	15	3792	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K	SVIL_ENST00000375400.3_Missense_Mutation_p.E588K|SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375398.2_Missense_Mutation_p.E1014K	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1014					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.E1014K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCTTCGGTTCATCCCCGAGG	0.512																																							uc001iut.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3040-3042)GAA>AAA		supervillin isoform 2							95.0	91.0	92.0					10																	29812503		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812503C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3040G>A	10.37:g.29812503C>T	ENSP00000348128:p.Glu1014Lys					SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.E588K	p.E1014K	NM_021738	NP_068506	O95425	SVIL_HUMAN			15	3793	-		Breast(68;0.103)	1014					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3040G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032325	0.35893	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.12361	2.69;2.71;2.71	5.01	5.01	0.66863	.	0.428856	0.24909	N	0.034638	T	0.22898	0.0553	M	0.68952	2.095	0.21579	N	0.999638	P;P	0.47762	0.9;0.77	P;B	0.45794	0.493;0.26	T	0.08249	-1.0731	9	.	.	.	-7.8468	16.8635	0.86024	0.0:1.0:0.0:0.0	.	588;1014	O95425-2;O95425	.;SVIL_HUMAN	K	588;1014;1014	ENSP00000364549:E588K;ENSP00000364547:E1014K;ENSP00000348128:E1014K	.	E	-	1	0	SVIL	29852509	0.871000	0.30034	0.026000	0.17262	0.003000	0.03518	4.614000	0.61183	2.487000	0.83934	0.557000	0.71058	GAA		0.512	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			7	64	0	0	0	0.001984	0	7	64				
ZEB1	6935	broad.mit.edu	37	10	31750000	31750000	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:31750000A>G	ENST00000320985.10	+	2	203	c.93A>G	c.(91-93)tcA>tcG	p.S31S	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Silent_p.S14S|ZEB1_ENST00000560721.2_Silent_p.S31S|ZEB1_ENST00000361642.5_Silent_p.S31S|ZEB1_ENST00000542815.3_Intron			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	31					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S31S(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAACAAATTCAGATTCAGATG	0.353																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(91-93)TCA>TCG		zinc finger E-box binding homeobox 1 isoform b							79.0	74.0	76.0					10																	31750000		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31750000A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.93A>G	10.37:g.31750000A>G						ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Silent_p.S31S|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Silent_p.S31S|ZEB1_uc001ivv.3_Silent_p.S31S|ZEB1_uc010qeh.1_Intron|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Silent_p.S14S|ZEB1_uc009xlp.2_Silent_p.S14S	p.S31S	NM_030751	NP_110378	P37275	ZEB1_HUMAN			2	156	+		Prostate(175;0.0156)	31					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.93A>G	CCDS7169.1																																																																																				0.353	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	23	0	0	0	0.001855	0	12	23				
ANKRD30A	91074	broad.mit.edu	37	10	37486372	37486372	+	Missense_Mutation	SNP	G	G	A	rs372000133		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:37486372G>A	ENST00000602533.1	+	29	2611	c.2512G>A	c.(2512-2514)Gcc>Acc	p.A838T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A838T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A957T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	894					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A838T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCAAATAAAGCCTTGGAATT	0.313													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18003	0.0		0.0	False		,,,				2504	0.0						uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(2512-2514)GCC>ACC		ankyrin repeat domain 30A		G	THR/ALA	5,3597		0,5,1796	93.0	84.0	86.0		2512	1.4	0.0	10		86	0,8136		0,0,4068	no	missense	ANKRD30A	NM_052997.2	58	0,5,5864	AA,AG,GG		0.0,0.1388,0.0426	possibly-damaging	838/1342	37486372	5,11733	1801	4068	5869	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486372G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2512G>A	10.37:g.37486372G>A	ENSP00000473551:p.Ala838Thr						p.A838T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			29	2611	+			894					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2512G>A		.	.	.	.	.	.	.	.	.	.	.	8.730	0.916514	0.17907	0.001388	0.0	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06371	3.31;3.31	1.36	1.36	0.22044	.	.	.	.	.	T	0.02418	0.0074	N	0.12746	0.255	0.09310	N	1	P	0.37466	0.596	B	0.32289	0.143	T	0.28427	-1.0044	9	0.02654	T	1	.	6.0834	0.19954	0.0:0.0:1.0:0.0	.	894	Q9BXX3	AN30A_HUMAN	T	838;957	ENSP00000354432:A838T;ENSP00000363792:A957T	ENSP00000354432:A838T	A	+	1	0	ANKRD30A	37526378	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.336000	0.19823	0.727000	0.32360	0.486000	0.48141	GCC		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		26	128	0	0	0	0.009535	0	26	128				
ANKRD30A	91074	broad.mit.edu	37	10	37508538	37508538	+	Missense_Mutation	SNP	C	C	A	rs199841724		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:37508538C>A	ENST00000602533.1	+	34	3829	c.3730C>A	c.(3730-3732)Cac>Aac	p.H1244N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1244N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H1363N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1300					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H1244N(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGAAGCTGAACACATGTATCA	0.368																																							uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3730-3732)CAC>AAC		ankyrin repeat domain 30A		C	ASN/HIS	2,3840		0,2,1919	75.0	65.0	68.0		3730	-0.2	0.0	10		68	0,8246		0,0,4123	no	missense	ANKRD30A	NM_052997.2	68	0,2,6042	AA,AC,CC		0.0,0.0521,0.0165	possibly-damaging	1244/1342	37508538	2,12086	1921	4123	6044	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508538C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3730C>A	10.37:g.37508538C>A	ENSP00000473551:p.His1244Asn						p.H1244N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3829	+			1300			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3730C>A		.	.	.	.	.	.	.	.	.	.	c	0.471	-0.884613	0.02530	5.21E-4	0.0	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14640	2.49;2.49	2.95	-0.226	0.13106	.	.	.	.	.	T	0.13329	0.0323	M	0.68952	2.095	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.30208	-0.9986	9	0.49607	T	0.09	.	3.7444	0.08542	0.1903:0.5705:0.0:0.2392	.	1300	Q9BXX3	AN30A_HUMAN	N	1244;1363	ENSP00000354432:H1244N;ENSP00000363792:H1363N	ENSP00000354432:H1244N	H	+	1	0	ANKRD30A	37548544	0.141000	0.22595	0.000000	0.03702	0.000000	0.00434	0.063000	0.14410	-0.329000	0.08527	-0.471000	0.05019	CAC		0.368	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		8	25	1	0	3.09899e-07	0.004482	3.99367e-07	8	25				
HSD17B7P2	158160	broad.mit.edu	37	10	38647334	38647334	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:38647334G>T	ENST00000494540.1	+	0	205					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		GGCAGAAGCTGTCTGTGCTGC	0.577																																							uc010qex.1		NA																	0					0						c.(130-132)GTC>TTC		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38647334G>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38647334G>T						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc010qew.1_Missense_Mutation_p.V44F|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.V44F	p.V44F							2	205	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.130G>T																																																																																					0.577	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		8	54	1	0	0.00307968	0.00308	0.0033804	8	54				
BMS1	9790	broad.mit.edu	37	10	43287086	43287086	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:43287086G>T	ENST00000374518.5	+	6	711	c.648G>T	c.(646-648)ctG>ctT	p.L216L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	216	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.L216L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTGCCAAGCTGTTCTACCTTT	0.343																																							uc001jaj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(646-648)CTG>CTT		BMS1-like, ribosome assembly protein							60.0	64.0	63.0					10																	43287086		2203	4300	6503	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43287086G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.648G>T	10.37:g.43287086G>T							p.L216L	NM_014753	NP_055568	Q14692	BMS1_HUMAN			6	1006	+			216					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.648G>T	CCDS7199.1																																																																																				0.343	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		23	109	1	0	1.87028e-06	0.001882	2.35121e-06	23	109				
CSGALNACT2	55454	broad.mit.edu	37	10	43650913	43650913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:43650913G>T	ENST00000374466.3	+	2	651	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.G106C	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	106					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.G106C(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGGGCTAATGGCATAGGCTA	0.418																																							uc001jan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(316-318)GGC>TGC		chondroitin sulfate							76.0	64.0	68.0					10																	43650913		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650913G>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.316G>T	10.37:g.43650913G>T	ENSP00000363590:p.Gly106Cys					CSGALNACT2_uc001jam.1_Missense_Mutation_p.G106C	p.G106C	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	651	+			106			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.316G>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724289	0.48728	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.26518	1.75;1.73	5.56	4.66	0.58398	.	0.309899	0.40818	N	0.001015	T	0.43523	0.1251	M	0.67397	2.05	0.53005	D	0.999967	D;D	0.63880	0.993;0.991	P;P	0.60541	0.876;0.873	T	0.34104	-0.9842	10	0.48119	T	0.1	-7.379	11.6291	0.51164	0.1428:0.0:0.8572:0.0	.	106;106	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	C	106	ENSP00000363590:G106C;ENSP00000363588:G106C	ENSP00000363588:G106C	G	+	1	0	CSGALNACT2	42970919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.506000	0.60428	1.492000	0.48499	0.650000	0.86243	GGC		0.418	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		7	43	1	0	1.6384e-10	0.001984	2.4007e-10	7	43				
GPRIN2	9721	broad.mit.edu	37	10	46999701	46999701	+	Missense_Mutation	SNP	A	A	C	rs370414578		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:46999701A>C	ENST00000374317.1	+	3	1094	c.821A>C	c.(820-822)cAt>cCt	p.H274P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.H274P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	274								p.H274P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGGCTCAGCATGGGGTGAAG	0.632																																							uc001jec.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(820-822)CAT>CCT		G protein-regulated inducer of neurite outgrowth							95.0	102.0	100.0					10																	46999701		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999701A>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.821A>C	10.37:g.46999701A>C	ENSP00000363436:p.His274Pro					GPRIN2_uc010qfq.1_Missense_Mutation_p.H37P	p.H274P	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	956	+			274					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.821A>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	A	4.517	0.095996	0.08681	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03607	3.87;3.87	5.13	-3.48	0.04739	.	1.346720	0.04998	N	0.468502	T	0.02688	0.0081	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46527	-0.9185	10	0.38643	T	0.18	3.861	5.5194	0.16923	0.4395:0.2557:0.3049:0.0	.	274	O60269	GRIN2_HUMAN	P	274	ENSP00000363436:H274P;ENSP00000363433:H274P	ENSP00000363433:H274P	H	+	2	0	GPRIN2	46419707	0.004000	0.15560	0.005000	0.12908	0.151000	0.21798	0.048000	0.14078	-0.845000	0.04179	0.358000	0.22013	CAT		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		4	83	0	0	0	0.009096	0	4	83				
C10orf71	118461	broad.mit.edu	37	10	50531576	50531576	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:50531576C>A	ENST00000374144.3	+	3	1274	c.986C>A	c.(985-987)gCc>gAc	p.A329D	C10orf71_ENST00000323868.4_Missense_Mutation_p.A329D			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	329								p.A329D(2)		endometrium(1)	1						CAGGTCCAGGCCAGCTGCAGT	0.582																																							uc010qgp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(985-987)GCC>GAC		hypothetical protein LOC118461 isoform 2							52.0	58.0	56.0					10																	50531576		2008	4174	6182	SO:0001583	missense	118461							g.chr10:50531576C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.986C>A	10.37:g.50531576C>A	ENSP00000363259:p.Ala329Asp						p.A329D	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1325	+			329					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.986C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.119025	0.20877	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.15834	2.39;3.52	5.53	1.3	0.21679	.	0.566234	0.15776	N	0.245192	T	0.14270	0.0345	L	0.54323	1.7	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.23511	-1.0186	10	0.72032	D	0.01	.	3.6578	0.08228	0.1162:0.5089:0.2197:0.1552	.	329	Q711Q0-3	.	D	329	ENSP00000318713:A329D;ENSP00000363259:A329D	ENSP00000318713:A329D	A	+	2	0	C10orf71	50201582	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.143000	0.10296	0.683000	0.31428	-0.181000	0.13052	GCC		0.582	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		14	44	1	0	1.49906e-05	0.00245	1.79654e-05	14	44				
PCDH15	65217	broad.mit.edu	37	10	56138610	56138610	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:56138610A>T	ENST00000320301.6	-	4	644	c.250T>A	c.(250-252)Tgg>Agg	p.W84R	PCDH15_ENST00000373955.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84R|PCDH15_ENST00000414778.1_Missense_Mutation_p.W89R|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84R|PCDH15_ENST00000373965.2_Missense_Mutation_p.W84R|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62R|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395430.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84R|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84R|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62R|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.W84R(3)|p.W89R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCAACACCCAGTAATCCACA	0.428										HNSCC(58;0.16)																													uc001jju.1		NA																	5	Substitution - Missense(5)		lung(5)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(250-252)TGG>AGG		protocadherin 15 isoform CD1-4 precursor							152.0	160.0	157.0					10																	56138610		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138610A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.250T>A	10.37:g.56138610A>T	ENSP00000322604:p.Trp84Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.W89R|PCDH15_uc010qhr.1_Missense_Mutation_p.W84R|PCDH15_uc010qhs.1_Missense_Mutation_p.W89R|PCDH15_uc010qht.1_Missense_Mutation_p.W84R|PCDH15_uc010qhu.1_Missense_Mutation_p.W84R|PCDH15_uc001jjv.1_Missense_Mutation_p.W62R|PCDH15_uc010qhv.1_Missense_Mutation_p.W84R|PCDH15_uc010qhw.1_Missense_Mutation_p.W84R|PCDH15_uc010qhx.1_Missense_Mutation_p.W84R|PCDH15_uc010qhy.1_Missense_Mutation_p.W89R|PCDH15_uc010qhz.1_Missense_Mutation_p.W84R|PCDH15_uc010qia.1_Missense_Mutation_p.W62R|PCDH15_uc010qib.1_Missense_Mutation_p.W62R|PCDH15_uc001jjw.2_Missense_Mutation_p.W84R	p.W84R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	645	-		Melanoma(3;0.117)|Lung SC(717;0.238)	84			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.250T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444687	0.83993	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	0.41;0.36;0.34;0.38;0.45;0.78;0.69;0.27;0.22;0.09;0.34;0.22;0.22;0.32;0.47;-0.19	5.3	5.3	0.74995	Cadherin (1);	.	.	.	.	T	0.70081	0.3183	L	0.36672	1.1	0.49915	D	0.999831	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.993;0.986;0.986;0.999;0.993;0.998;0.999;0.986;0.973;0.999;0.999;1.0;0.999;0.986	T	0.67806	-0.5575	9	0.30854	T	0.27	.	14.9006	0.70675	1.0:0.0:0.0:0.0	.	62;84;84;89;84;84;84;84;84;84;84;89;84;62;84	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	84;89;84;84;84;84;84;84;84;84;62;62;84;84;89;84;84;84	ENSP00000363076:W84R;ENSP00000410304:W89R;ENSP00000378826:W84R;ENSP00000378832:W84R;ENSP00000378833:W84R;ENSP00000378829:W84R;ENSP00000378827:W84R;ENSP00000378820:W84R;ENSP00000354950:W84R;ENSP00000378821:W62R;ENSP00000363068:W62R;ENSP00000322604:W84R;ENSP00000378818:W84R;ENSP00000412628:W84R;ENSP00000363066:W84R;ENSP00000394465:W84R	ENSP00000322604:W84R	W	-	1	0	PCDH15	55808616	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.324000	0.96373	2.026000	0.59711	0.523000	0.50628	TGG		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		41	141	0	0	0	0.002522	0	41	141				
BICC1	80114	broad.mit.edu	37	10	60577388	60577388	+	Missense_Mutation	SNP	G	G	A	rs141599424		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:60577388G>A	ENST00000373886.3	+	19	2604	c.2600G>A	c.(2599-2601)tGt>tAt	p.C867Y		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	867					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C867Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCAATGGCTGTAACTTAAAT	0.468																																							uc001jki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2599-2601)TGT>TAT		bicaudal C homolog 1		G	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	117.0	108.0	111.0		2600	5.7	1.0	10	dbSNP_134	111	0,8600		0,0,4300	no	missense	BICC1	NM_001080512.1	194	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	867/975	60577388	1,13005	2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60577388G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2600G>A	10.37:g.60577388G>A	ENSP00000362993:p.Cys867Tyr						p.C867Y	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			19	2600	+			867						Missense_Mutation	SNP	ENST00000373886.3	37	c.2600G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726902	0.89390	2.27E-4	0.0	ENSG00000122870	ENST00000373886	T	0.28069	1.63	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.14839	-1.0458	10	0.08179	T	0.78	-10.8741	17.9987	0.89192	0.0:0.0:1.0:0.0	.	867	Q9H694	BICC1_HUMAN	Y	867	ENSP00000362993:C867Y	ENSP00000362993:C867Y	C	+	2	0	BICC1	60247394	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.726000	0.98782	2.687000	0.91594	0.563000	0.77884	TGT		0.468	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		16	47	0	0	0	0.003163	0	16	47				
MYPN	84665	broad.mit.edu	37	10	69881444	69881444	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:69881444C>G	ENST00000358913.5	+	2	737	c.249C>G	c.(247-249)atC>atG	p.I83M	MYPN_ENST00000373675.3_Missense_Mutation_p.I83M|MYPN_ENST00000540630.1_Missense_Mutation_p.I83M|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	83	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.I83M(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GACTGGCCATCAATTACGACC	0.448																																							uc001jnm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(247-249)ATC>ATG		myopalladin							54.0	53.0	53.0					10																	69881444		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881444C>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.249C>G	10.37:g.69881444C>G	ENSP00000351790:p.Ile83Met					MYPN_uc001jnl.1_Missense_Mutation_p.I83M|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.I83M|MYPN_uc001jnp.1_Missense_Mutation_p.I83M|MYPN_uc009xps.2_Missense_Mutation_p.I83M|MYPN_uc009xpt.2_Missense_Mutation_p.I83M|MYPN_uc010qit.1_Translation_Start_Site|MYPN_uc010qiu.1_RNA	p.I83M	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	434	+			83			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.249C>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874364	0.51695	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.69561	0.01;-0.01;-0.41	5.5	5.5	0.81552	.	0.051613	0.85682	D	0.000000	T	0.76835	0.4043	M	0.63843	1.955	0.47584	D	0.999461	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.75631	-0.3251	9	.	.	.	.	9.559	0.39357	0.0:0.8445:0.0:0.1555	.	83;83	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	M	83	ENSP00000351790:I83M;ENSP00000441668:I83M;ENSP00000362779:I83M	.	I	+	3	3	MYPN	69551450	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.647000	0.37260	2.861000	0.98227	0.655000	0.94253	ATC		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		11	42	0	0	0	0.000978	0	11	42				
TET1	80312	broad.mit.edu	37	10	70332962	70332962	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:70332962C>A	ENST00000373644.4	+	2	1076	c.867C>A	c.(865-867)ccC>ccA	p.P289P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	289					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.P289P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACCTGGATCCCATTAAAAGTG	0.438																																							uc001jok.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(865-867)CCC>CCA		CXXC finger 6							81.0	85.0	84.0					10																	70332962		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332962C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.867C>A	10.37:g.70332962C>A							p.P289P	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	1372	+			289					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.867C>A	CCDS7281.1																																																																																				0.438	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		16	91	1	0	1.99824e-07	0.00499	2.59686e-07	16	91				
HKDC1	80201	broad.mit.edu	37	10	71025520	71025520	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:71025520A>T	ENST00000354624.5	+	17	2685	c.2552A>T	c.(2551-2553)gAg>gTg	p.E851V	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	851	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.E851V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGGGGCTAGAGCACCTGAGG	0.662																																							uc001jpf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2551-2553)GAG>GTG		hexokinase domain containing 1							34.0	34.0	34.0					10																	71025520		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71025520A>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2552A>T	10.37:g.71025520A>T	ENSP00000346643:p.Glu851Val					HKDC1_uc010qje.1_Missense_Mutation_p.E714V|HKDC1_uc009xqb.2_RNA	p.E851V	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			17	2685	+			851					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.2552A>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715923	0.48622	.	.	ENSG00000156510	ENST00000354624	D	0.96716	-4.1	4.66	4.66	0.58398	Hexokinase, C-terminal (1);	0.220944	0.45867	D	0.000337	D	0.94046	0.8092	L	0.48877	1.53	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	D	0.92129	0.5710	10	0.87932	D	0	-16.4297	14.5313	0.67929	1.0:0.0:0.0:0.0	.	851	Q2TB90	HKDC1_HUMAN	V	851	ENSP00000346643:E851V	ENSP00000346643:E851V	E	+	2	0	HKDC1	70695526	1.000000	0.71417	0.020000	0.16555	0.679000	0.39708	9.139000	0.94554	2.076000	0.62316	0.460000	0.39030	GAG		0.662	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		6	25	0	0	0	0.001168	0	6	25				
NRG3	10718	broad.mit.edu	37	10	84118550	84118550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:84118550G>T	ENST00000404547.1	+	2	879	c.879G>T	c.(877-879)aaG>aaT	p.K293N	NRG3_ENST00000404576.2_Missense_Mutation_p.K97N|NRG3_ENST00000372141.2_Missense_Mutation_p.K293N|NRG3_ENST00000556918.1_Missense_Mutation_p.K123N|NRG3_ENST00000372142.2_Missense_Mutation_p.K72N			P56975	NRG3_HUMAN	neuregulin 3	293	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.K72N(1)|p.K293N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCCGAGACAAGGACCTTGCAT	0.517																																							uc001kco.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(877-879)AAG>AAT		neuregulin 3 isoform 1							193.0	146.0	162.0					10																	84118550		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84118550G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.879G>T	10.37:g.84118550G>T	ENSP00000384796:p.Lys293Asn					NRG3_uc010qlz.1_Missense_Mutation_p.K293N|NRG3_uc001kcp.2_Missense_Mutation_p.K72N|NRG3_uc001kcq.2_Translation_Start_Site	p.K293N	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	2	906	+			293			EGF-like.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.879G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947960	0.53186	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.72	5.72	0.89469	.	0.253950	0.28349	N	0.015669	T	0.51160	0.1658	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.85130	0.98;0.997;0.996	T	0.49113	-0.8973	10	0.59425	D	0.04	-10.3509	17.3885	0.87423	0.0:0.0:1.0:0.0	.	293;72;293	B9EGV5;P56975-3;P56975-4	.;.;.	N	293;293;293;72;97;123	ENSP00000361214:K293N;ENSP00000384796:K293N;ENSP00000361215:K72N;ENSP00000385804:K97N;ENSP00000451376:K123N	ENSP00000361214:K293N	K	+	3	2	NRG3	84108530	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.275000	0.72594	2.711000	0.92665	0.655000	0.94253	AAG		0.517	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		19	71	1	0	2.4624e-09	0.008871	3.4631e-09	19	71				
NRG3	10718	broad.mit.edu	37	10	84498377	84498377	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:84498377C>A	ENST00000404547.1	+	3	998	c.998C>A	c.(997-999)cCg>cAg	p.P333Q	NRG3_ENST00000404576.2_Missense_Mutation_p.P137Q|NRG3_ENST00000372141.2_Missense_Mutation_p.P333Q|NRG3_ENST00000556918.1_Missense_Mutation_p.P163Q|NRG3_ENST00000372142.2_Missense_Mutation_p.P112Q			P56975	NRG3_HUMAN	neuregulin 3	333					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.P333Q(1)|p.P112Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAATTTCTGCCGAAAACTGAT	0.398																																							uc001kco.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(997-999)CCG>CAG		neuregulin 3 isoform 1							158.0	140.0	146.0					10																	84498377		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84498377C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.998C>A	10.37:g.84498377C>A	ENSP00000384796:p.Pro333Gln					NRG3_uc010qlz.1_Missense_Mutation_p.P333Q|NRG3_uc001kcp.2_Missense_Mutation_p.P112Q|NRG3_uc001kcq.2_5'UTR	p.P333Q	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	3	1025	+			333			Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.998C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752446	0.89753	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.84	5.84	0.93424	.	0.307444	0.27668	N	0.018353	T	0.60418	0.2267	M	0.67700	2.07	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.59418	-0.7458	10	0.59425	D	0.04	-21.2121	17.6318	0.88111	0.0:1.0:0.0:0.0	.	333;112;333	B9EGV5;P56975-3;P56975-4	.;.;.	Q	333;333;333;112;137;163	ENSP00000361214:P333Q;ENSP00000384796:P333Q;ENSP00000361215:P112Q;ENSP00000385804:P137Q;ENSP00000451376:P163Q	ENSP00000361214:P333Q	P	+	2	0	NRG3	84488357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.296000	0.78790	2.779000	0.95612	0.655000	0.94253	CCG		0.398	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		16	51	1	0	1.99824e-07	0.00499	2.59686e-07	16	51				
LIPN	643418	broad.mit.edu	37	10	90537778	90537778	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:90537778A>T	ENST00000404459.1	+	9	976	c.976A>T	c.(976-978)Ata>Tta	p.I326L		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	326					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.I326L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TCATCCCCCTATATATGACCT	0.488																																							uc010qmw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(976-978)ATA>TTA		lipase-like, ab-hydrolase domain containing 4							120.0	112.0	115.0					10																	90537778		1978	4149	6127	SO:0001583	missense	643418				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90537778A>T		CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.976A>T	10.37:g.90537778A>T	ENSP00000383923:p.Ile326Leu						p.I326L	NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)	9	976	+		Colorectal(252;0.0161)	326					A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	c.976A>T	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.993343	0.00439	.	.	ENSG00000204020	ENST00000404459	T	0.60920	0.15	5.2	-0.361	0.12564	Alpha/beta hydrolase fold-1 (1);	0.602886	0.14808	N	0.297207	T	0.17704	0.0425	N	0.00778	-1.195	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16660	-1.0395	10	0.20046	T	0.44	-1.7272	0.3188	0.00300	0.3148:0.2509:0.1274:0.3069	.	326	Q5VXI9	LIPN_HUMAN	L	326	ENSP00000383923:I326L	ENSP00000383923:I326L	I	+	1	0	LIPN	90527758	0.000000	0.05858	0.001000	0.08648	0.146000	0.21551	-0.772000	0.04694	-0.137000	0.11455	-0.360000	0.07572	ATA		0.488	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2	XM_926751		8	44	0	0	0	0.00308	0	8	44				
PCGF5	84333	broad.mit.edu	37	10	93011157	93011157	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:93011157G>A	ENST00000336126.5	+	6	666	c.434G>A	c.(433-435)tGt>tAt	p.C145Y	PCGF5_ENST00000543648.1_Missense_Mutation_p.C145Y	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)	p.C145Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TGTCTAGATTGTTTACGAAAT	0.338																																					Colon(178;732 2696 46441 50370)	Colon(178;732 2696 46441 50370)	uc001khh.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(433-435)TGT>TAT		polycomb group ring finger 5							128.0	121.0	123.0					10																	93011157		2203	4300	6503	SO:0001583	missense	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011157G>A	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.434G>A	10.37:g.93011157G>A	ENSP00000337500:p.Cys145Tyr					PCGF5_uc010qnk.1_Missense_Mutation_p.C145Y|PCGF5_uc001khi.2_Missense_Mutation_p.C145Y	p.C145Y	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN			6	681	+			145					B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	ENST00000336126.5	37	c.434G>A	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248679	0.80024	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.47869	0.83;0.83	6.06	6.06	0.98353	.	0.137726	0.64402	D	0.000002	T	0.55986	0.1955	M	0.78456	2.415	0.80722	D	1	P	0.49635	0.926	P	0.47744	0.556	T	0.56872	-0.7907	10	0.02654	T	1	-6.104	20.6397	0.99537	0.0:0.0:1.0:0.0	.	145	Q86SE9	PCGF5_HUMAN	Y	145	ENSP00000445704:C145Y;ENSP00000337500:C145Y	ENSP00000337500:C145Y	C	+	2	0	PCGF5	93001137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.076000	0.94009	2.880000	0.98712	0.650000	0.86243	TGT		0.338	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		8	46	0	0	0	0.006214	0	8	46				
CNNM1	26507	broad.mit.edu	37	10	101090517	101090517	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:101090517G>T	ENST00000356713.4	+	1	1662	c.1373G>T	c.(1372-1374)cGc>cTc	p.R458L	CNNM1_ENST00000370534.4_Missense_Mutation_p.R93L|CNNM1_ENST00000446890.1_Missense_Mutation_p.R387L|CNNM1_ENST00000370528.3_Missense_Mutation_p.R387L	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	458	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R93L(1)|p.R458L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GAGATCCTGCGCAGCGGCTAC	0.597																																							uc001kpp.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1372-1374)CGC>CTC		cyclin M1							72.0	59.0	64.0					10																	101090517		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101090517G>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1373G>T	10.37:g.101090517G>T	ENSP00000349147:p.Arg458Leu					CNNM1_uc009xwe.2_Missense_Mutation_p.R458L|CNNM1_uc010qpi.1_Missense_Mutation_p.R458L|CNNM1_uc009xwf.2_Missense_Mutation_p.R458L	p.R458L	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	1662	+		Colorectal(252;0.234)	458			CBS 1.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1373G>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027459	0.54683	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.69	4.69	0.59074	Cystathionine beta-synthase, core (1);	0.199154	0.46442	D	0.000281	T	0.81767	0.4892	L	0.39326	1.205	0.80722	D	1	D;P;B;B	0.63046	0.992;0.775;0.018;0.452	P;P;B;B	0.59056	0.851;0.614;0.052;0.217	D	0.83786	0.0228	10	0.62326	D	0.03	-24.7218	17.7859	0.88538	0.0:0.0:1.0:0.0	.	93;458;93;458	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	L	458;387;387;93	ENSP00000349147:R458L;ENSP00000406492:R387L;ENSP00000359559:R387L;ENSP00000359565:R93L	ENSP00000349147:R458L	R	+	2	0	CNNM1	101080507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.990000	0.63876	2.429000	0.82318	0.462000	0.41574	CGC		0.597	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		9	28	1	0	4.68919e-08	0.008291	6.2631e-08	9	28				
PSD	5662	broad.mit.edu	37	10	104170620	104170620	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:104170620G>T	ENST00000020673.5	-	10	2612	c.2086C>A	c.(2086-2088)Ctc>Atc	p.L696I	PSD_ENST00000406432.1_Missense_Mutation_p.L696I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	696	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.L481I(1)|p.L696I(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCACCTTGAGCAGCTCCCTA	0.657																																							uc001kvg.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|urinary_tract(1)	3						c.(2086-2088)CTC>ATC		pleckstrin and Sec7 domain containing							59.0	67.0	64.0					10																	104170620		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104170620G>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2086C>A	10.37:g.104170620G>T	ENSP00000020673:p.Leu696Ile					PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Missense_Mutation_p.L317I|PSD_uc009xxd.1_Missense_Mutation_p.L696I	p.L696I	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	10	2613	-			696			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2086C>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253248	0.95336	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.66995	-0.24;-0.24	4.83	4.83	0.62350	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.144833	0.47455	D	0.000232	D	0.86560	0.5962	M	0.93550	3.43	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.90249	0.4292	10	0.87932	D	0	.	17.7354	0.88391	0.0:0.0:1.0:0.0	.	696	A5PKW4	PSD1_HUMAN	I	696;599;696	ENSP00000020673:L696I;ENSP00000384830:L696I	ENSP00000020673:L696I	L	-	1	0	PSD	104160610	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.931000	0.56529	2.514000	0.84764	0.561000	0.74099	CTC		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			13	71	1	0	6.72482e-11	0.003163	9.92927e-11	13	71				
CALHM2	51063	broad.mit.edu	37	10	105209507	105209507	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:105209507G>A	ENST00000260743.5	-	3	715	c.192C>T	c.(190-192)ccC>ccT	p.P64P	CALHM2_ENST00000369788.3_Silent_p.P64P|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000393235.1_Silent_p.P64P|RP11-225H22.7_ENST00000608063.1_RNA	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	64					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.P64P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCACCAGGGCGGGCACGCCGA	0.667																																							uc001kwz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(190-192)CCC>CCT		calcium homeostasis modulator 2							44.0	51.0	49.0					10																	105209507		2203	4300	6503	SO:0001819	synonymous_variant	51063					integral to membrane		g.chr10:105209507G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.192C>T	10.37:g.105209507G>A						CALHM2_uc001kxa.2_Silent_p.P64P|CALHM2_uc001kxc.2_Silent_p.P64P|CALHM2_uc001kxb.2_Silent_p.P64P|CALHM2_uc001kxd.1_Silent_p.P64P	p.P64P	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	578	-			64			Helical; (Potential).		D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	c.192C>T	CCDS7549.1																																																																																				0.667	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		14	50	0	0	0	0.004007	0	14	50				
SORCS3	22986	broad.mit.edu	37	10	106960943	106960943	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:106960943C>T	ENST00000369701.3	+	16	2420	c.2193C>T	c.(2191-2193)gcC>gcT	p.A731A	SORCS3_ENST00000369699.4_Silent_p.A17A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	731					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.A731A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCAGTGTGCCCTGGGCCGAG	0.478																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2191-2193)GCC>GCT		VPS10 domain receptor protein SORCS 3 precursor							124.0	108.0	113.0					10																	106960943		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960943C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2193C>T	10.37:g.106960943C>T						SORCS3_uc010qqz.1_RNA	p.A731A	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2420	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	731			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2193C>T	CCDS7558.1																																																																																				0.478	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		20	64	0	0	0	0.007413	0	20	64				
SORCS3	22986	broad.mit.edu	37	10	106974285	106974285	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:106974285C>T	ENST00000369701.3	+	18	2688	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S	SORCS3_ENST00000369699.4_Missense_Mutation_p.P107S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	821					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.P821S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGAAAAGCCCCTCGGGGCCT	0.567																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2461-2463)CCT>TCT		VPS10 domain receptor protein SORCS 3 precursor							70.0	64.0	66.0					10																	106974285		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974285C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2461C>T	10.37:g.106974285C>T	ENSP00000358715:p.Pro821Ser					SORCS3_uc010qqz.1_RNA	p.P821S	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2688	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	821			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2461C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.988640	0.93106	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.68624	-0.34;-0.34	5.89	5.89	0.94794	VPS10 (1);PKD domain (1);	0.058874	0.64402	N	0.000002	D	0.86020	0.5833	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87179	0.2226	9	.	.	.	.	20.2574	0.98430	0.0:1.0:0.0:0.0	.	821	Q9UPU3	SORC3_HUMAN	S	821;107	ENSP00000358715:P821S;ENSP00000358713:P107S	.	P	+	1	0	SORCS3	106964275	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.485000	0.81204	2.789000	0.95967	0.558000	0.71614	CCT		0.567	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		12	45	0	0	0	0.001368	0	12	45				
SORCS1	114815	broad.mit.edu	37	10	108447971	108447971	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:108447971C>T	ENST00000263054.6	-	10	1546	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	SORCS1_ENST00000369698.1_Silent_p.G48G|SORCS1_ENST00000344440.6_Silent_p.G513G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	513					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G513G(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACGGGGTCCCCCCTTAGAT	0.488																																							uc001kym.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1537-1539)GGG>GGA		SORCS receptor 1 isoform a							105.0	96.0	99.0					10																	108447971		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108447971C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1539G>A	10.37:g.108447971C>T						SORCS1_uc001kyl.2_Silent_p.G513G|SORCS1_uc009xxs.2_Silent_p.G513G|SORCS1_uc001kyn.1_Silent_p.G513G|SORCS1_uc001kyo.2_Silent_p.G513G	p.G513G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	10	1547	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	513			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.1539G>A	CCDS7559.1																																																																																				0.488	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		17	74	0	0	0	0.007413	0	17	74				
KCNK18	338567	broad.mit.edu	37	10	118969189	118969189	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:118969189C>T	ENST00000334549.1	+	3	534	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.S178S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCTCCTCTCCAAGTGGTGCC	0.517																																							uc010qsr.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(532-534)TCC>TCT		potassium channel, subfamily K, member 18							77.0	81.0	80.0					10																	118969189		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118969189C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.534C>T	10.37:g.118969189C>T							p.S178S	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	534	+		Colorectal(252;0.19)	178			Cytoplasmic (Potential).		Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.534C>T	CCDS7598.1																																																																																				0.517	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		25	93	0	0	0	0.00333	0	25	93				
GRK5	2869	broad.mit.edu	37	10	121086101	121086101	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:121086101T>A	ENST00000392870.2	+	2	455	c.126T>A	c.(124-126)tgT>tgA	p.C42*		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	42	N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.C42*(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TTAGCCAGTGTGAAGACCTCC	0.537																																							uc001led.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)|stomach(1)	3						c.(124-126)TGT>TGA		G protein-coupled receptor kinase 5							69.0	64.0	66.0					10																	121086101		2203	4300	6503	SO:0001587	stop_gained	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121086101T>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.126T>A	10.37:g.121086101T>A	ENSP00000376609:p.Cys42*					GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR	p.C42*	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	2	359	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	42			N-terminal.		D3DRD0|Q5T059	Nonsense_Mutation	SNP	ENST00000392870.2	37	c.126T>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	T	38	6.941791	0.97952	.	.	ENSG00000198873	ENST00000369106;ENST00000392870	.	.	.	5.02	1.34	0.21922	.	0.000000	0.56097	U	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5971	8.7587	0.34661	0.0:0.2266:0.0:0.7734	.	.	.	.	X	42	.	ENSP00000358102:C42X	C	+	3	2	GRK5	121076091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.764000	0.26532	0.320000	0.23234	0.533000	0.62120	TGT		0.537	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		11	46	0	0	0	0.008291	0	11	46				
SEC23IP	11196	broad.mit.edu	37	10	121671606	121671606	+	Silent	SNP	G	G	T	rs146017364		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:121671606G>T	ENST00000369075.3	+	6	1314	c.1242G>T	c.(1240-1242)acG>acT	p.T414T	SEC23IP_ENST00000543134.1_Silent_p.T203T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	414					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T414T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGGGCACCACGCAAGATGGAC	0.438																																							uc001leu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1240-1242)ACG>ACT		Sec23-interacting protein p125							206.0	188.0	194.0					10																	121671606		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121671606G>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1242G>T	10.37:g.121671606G>T						SEC23IP_uc010qtc.1_Silent_p.T203T	p.T414T	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	6	1314	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	414					D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.1242G>T	CCDS7618.1																																																																																				0.438	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			22	82	1	0	2.98393e-07	0.00278	3.86806e-07	22	82				
C10orf88	80007	broad.mit.edu	37	10	124697465	124697465	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:124697465T>A	ENST00000481909.1	-	5	1083	c.859A>T	c.(859-861)Aat>Tat	p.N287Y	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	287								p.N287Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTGGTAGAATTCTCTCCACCA	0.373																																							uc001lgw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(859-861)AAT>TAT		hypothetical protein LOC80007							116.0	115.0	115.0					10																	124697465		2203	4299	6502	SO:0001583	missense	80007							g.chr10:124697465T>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.859A>T	10.37:g.124697465T>A	ENSP00000419126:p.Asn287Tyr					C10orf88_uc001lgx.2_Missense_Mutation_p.N189Y	p.N287Y	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	5	1084	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	287					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.859A>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138336	0.37728	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.31	1.7	0.24286	.	1.248480	0.05588	U	0.574196	T	0.53850	0.1822	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.61592	0.891	T	0.30707	-0.9969	9	0.62326	D	0.03	.	3.5216	0.07744	0.1677:0.1945:0.0:0.6379	.	287	Q9H8K7	CJ088_HUMAN	Y	287	.	ENSP00000419126:N287Y	N	-	1	0	C10orf88	124687455	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.189000	0.09629	0.602000	0.29896	0.482000	0.46254	AAT		0.373	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		18	42	0	0	0	0.007413	0	18	42				
ADAM12	8038	broad.mit.edu	37	10	127782644	127782644	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:127782644T>C	ENST00000368679.4	-	11	1373	c.1064A>G	c.(1063-1065)aAt>aGt	p.N355S	ADAM12_ENST00000368676.4_Missense_Mutation_p.N355S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	355	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.N355S(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CATCCCGAAATTGTGGCCCAG	0.502																																							uc001ljk.2		NA																	3	Substitution - Missense(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1063-1065)AAT>AGT		ADAM metallopeptidase domain 12 isoform 1							147.0	127.0	134.0					10																	127782644		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127782644T>C	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1064A>G	10.37:g.127782644T>C	ENSP00000357668:p.Asn355Ser					ADAM12_uc010qul.1_Missense_Mutation_p.N306S|ADAM12_uc001ljm.2_Missense_Mutation_p.N355S|ADAM12_uc001ljn.2_Missense_Mutation_p.N352S|ADAM12_uc001ljl.3_Missense_Mutation_p.N352S	p.N355S	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	11	1477	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	355			Extracellular (Potential).|Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1064A>G	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728563	0.69074	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.69306	-0.39;-0.39	4.89	4.89	0.63831	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D	0.63880	0.993;0.991;0.991;0.991;0.993	D;P;P;P;D	0.66979	0.935;0.893;0.893;0.893;0.948	T	0.78821	-0.2053	10	0.33940	T	0.23	.	14.6744	0.68969	0.0:0.0:0.0:1.0	.	352;352;355;352;355	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	S	355	ENSP00000357668:N355S;ENSP00000357665:N355S	ENSP00000357665:N355S	N	-	2	0	ADAM12	127772634	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	7.757000	0.85209	2.055000	0.61198	0.374000	0.22700	AAT		0.502	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			16	54	0	0	0	0.004007	0	16	54				
INPP5A	3632	broad.mit.edu	37	10	134463936	134463936	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:134463936G>T	ENST00000368594.3	+	4	510	c.233G>T	c.(232-234)aGt>aTt	p.S78I	INPP5A_ENST00000368593.3_Missense_Mutation_p.S78I	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	78					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.S78I(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CTATTGTCGAGTGATGCGATG	0.507																																					Pancreas(63;823 1267 11107 20380 51626)	Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(232-234)AGT>ATT		inositol polyphosphate-5-phosphatase A							237.0	245.0	242.0					10																	134463936		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134463936G>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.233G>T	10.37:g.134463936G>T	ENSP00000357583:p.Ser78Ile					INPP5A_uc001llo.1_Missense_Mutation_p.S78I|INPP5A_uc001llq.2_Missense_Mutation_p.S30I	p.S78I	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	4	481	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	78					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.233G>T	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.12|14.12	2.440990|2.440990	0.43326|0.43326	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000342652|ENST00000368594;ENST00000368593;ENST00000416326;ENST00000368595;ENST00000451873	.|T;T	.|0.40225	.|1.04;1.04	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67951|0.67951	0.2948|0.2948	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.847;0.999;0.999	.|P;D;D	.|0.87578	.|0.691;0.998;0.998	T|T	0.73886|0.73886	-0.3841|-0.3841	5|10	.|0.87932	.|D	.|0	-21.412|-21.412	18.122|18.122	0.89574|0.89574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;78;78	.|F5GWM1;Q14642;Q5T1B5	.|.;I5P1_HUMAN;.	D|I	49|78;78;78;78;74	.|ENSP00000357583:S78I;ENSP00000357582:S78I	.|ENSP00000357582:S78I	E|S	+|+	3|2	2|0	INPP5A|INPP5A	134313926|134313926	1.000000|1.000000	0.71417|0.71417	0.609000|0.609000	0.28983|0.28983	0.191000|0.191000	0.23601|0.23601	6.953000|6.953000	0.75995|0.75995	2.274000|2.274000	0.75844|0.75844	0.655000|0.655000	0.94253|0.94253	GAG|AGT		0.507	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		56	204	1	0	7.22619e-39	0.00361	1.3688e-38	56	204				
INPP5A	3632	broad.mit.edu	37	10	134595383	134595383	+	Nonsense_Mutation	SNP	C	C	T	rs201882680		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr10:134595383C>T	ENST00000368594.3	+	15	1454	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	393					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.R393*(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCTGGCCTTCCGAATCATGCC	0.612																																					Pancreas(63;823 1267 11107 20380 51626)	Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1177-1179)CGA>TGA		inositol polyphosphate-5-phosphatase A		C	stop/ARG	0,4400		0,0,2200	107.0	122.0	117.0		1177	4.2	1.0	10		117	1,8581	1.2+/-3.3	0,1,4290	yes	stop-gained	INPP5A	NM_005539.3		0,1,6490	TT,TC,CC		0.0117,0.0,0.0077		393/413	134595383	1,12981	2200	4291	6491	SO:0001587	stop_gained	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134595383C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1177C>T	10.37:g.134595383C>T	ENSP00000357583:p.Arg393*					INPP5A_uc001llq.2_Nonsense_Mutation_p.R288*	p.R393*	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	15	1425	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	393					D3DXI3|Q14640|Q5JSF1	Nonsense_Mutation	SNP	ENST00000368594.3	37	c.1177C>T	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	C	40	7.937658	0.98571	0.0	1.17E-4	ENSG00000068383	ENST00000368594;ENST00000416326;ENST00000432898;ENST00000445580	.	.	.	4.15	4.15	0.48705	.	0.098789	0.43579	D	0.000552	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1261	16.8306	0.85943	0.0:1.0:0.0:0.0	.	.	.	.	X	393;336;310;75	.	ENSP00000357583:R393X	R	+	1	2	INPP5A	134445373	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	6.806000	0.75195	2.044000	0.60594	0.455000	0.32223	CGA		0.612	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		10	60	0	0	0	0.006214	0	10	60				
TALDO1	6888	broad.mit.edu	37	11	764307	764307	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:764307A>G	ENST00000319006.3	+	7	1008	c.855A>G	c.(853-855)gaA>gaG	p.E285E	TALDO1_ENST00000528097.1_Missense_Mutation_p.K284R			P37837	TALDO_HUMAN	transaldolase 1	285					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.E285E(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GTGACCTGGAAAAAATCCACC	0.582																																							uc001lqz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(853-855)GAA>GAG		transaldolase 1							95.0	94.0	94.0					11																	764307		2203	4300	6503	SO:0001819	synonymous_variant	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:764307A>G		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.855A>G	11.37:g.764307A>G						TALDO1_uc001lra.2_Missense_Mutation_p.K284R	p.E285E	NM_006755	NP_006746	P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	7	905	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	285					B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	c.855A>G	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904996	0.52333	.	.	ENSG00000177156	ENST00000528097	D	0.82711	-1.64	5.09	3.2	0.36748	.	.	.	.	.	T	0.76241	0.3960	.	.	.	0.23791	N	0.996831	B	0.02656	0.0	B	0.04013	0.001	T	0.66614	-0.5879	8	0.66056	D	0.02	-16.991	10.3888	0.44156	0.1675:0.0:0.8325:0.0	.	284	F2Z393	.	R	284	ENSP00000437098:K284R	ENSP00000437098:K284R	K	+	2	0	TALDO1	754307	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.509000	0.35780	0.642000	0.30620	-0.242000	0.12053	AAA		0.582	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		4	82	0	0	0	0.009096	0	4	82				
MUC2	4583	broad.mit.edu	37	11	1088725	1088725	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:1088725C>G	ENST00000441003.2	+	26	3537	c.3510C>G	c.(3508-3510)gaC>gaG	p.D1170E	MUC2_ENST00000359061.5_Missense_Mutation_p.D1170E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1170					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.D1170E(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCAAGGACAGGCCCATCT	0.622																																							uc001lsx.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(3508-3510)GAC>GAG		mucin 2 precursor	Pranlukast(DB01411)						53.0	61.0	58.0					11																	1088725		2057	4189	6246	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1088725C>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3510C>G	11.37:g.1088725C>G	ENSP00000415183:p.Asp1170Glu						p.D1170E	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	26	3537	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1170					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3510C>G		.	.	.	.	.	.	.	.	.	.	C	5.422	0.262953	0.10294	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54675	0.56;0.56	3.57	-1.22	0.09494	.	859.297000	0.01235	N	0.008466	T	0.30634	0.0771	N	0.12182	0.205	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.12941	-1.0528	10	0.11182	T	0.66	.	4.5877	0.12291	0.1883:0.3101:0.4154:0.0862	.	1170	E7EUV1	.	E	1170	ENSP00000415183:D1170E;ENSP00000351956:D1170E	ENSP00000351956:D1170E	D	+	3	2	MUC2	1078725	0.000000	0.05858	0.006000	0.13384	0.894000	0.52154	-1.622000	0.02042	0.169000	0.19679	0.456000	0.33151	GAC		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	14	0	0	0	0.001168	0	5	14				
LSP1	4046	broad.mit.edu	37	11	1904748	1904748	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:1904748G>C	ENST00000311604.3	+	4	631	c.456G>C	c.(454-456)caG>caC	p.Q152H	LSP1_ENST00000405957.2_Missense_Mutation_p.Q90H|LSP1_ENST00000381775.1_Missense_Mutation_p.Q280H|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000406638.2_Missense_Mutation_p.Q90H	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	152					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.Q152H(1)|p.Q90H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ACACTGTCCAGGACAACCTGG	0.637																																							uc001lui.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(454-456)CAG>CAC		lymphocyte-specific protein 1 isoform 1							49.0	55.0	53.0					11																	1904748		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1904748G>C	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.456G>C	11.37:g.1904748G>C	ENSP00000308383:p.Gln152His					LSP1_uc001luj.2_Missense_Mutation_p.Q280H|LSP1_uc001luk.2_Missense_Mutation_p.Q90H|LSP1_uc001lul.2_Missense_Mutation_p.Q90H|LSP1_uc001lum.2_Missense_Mutation_p.Q90H	p.Q152H	NM_002339	NP_002330	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	4	631	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	152					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.456G>C	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025063	0.35701	.	.	ENSG00000130592	ENST00000311604;ENST00000446808;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000429923;ENST00000406638;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T;T;T	0.33654	1.82;1.4;1.74;1.82;1.81;1.42;1.82;1.87;1.87	2.13	2.13	0.27403	.	0.315205	0.17016	U	0.190292	T	0.42177	0.1191	L	0.40543	1.245	0.23425	N	0.997706	D;D	0.65815	0.995;0.99	P;P	0.58454	0.839;0.737	T	0.12682	-1.0538	10	0.59425	D	0.04	.	9.8416	0.41002	0.0:0.0:1.0:0.0	.	280;152	E9PFP3;P33241	.;LSP1_HUMAN	H	152;90;280;90;143;135;90;90;90	ENSP00000308383:Q152H;ENSP00000402543:Q90H;ENSP00000371194:Q280H;ENSP00000383932:Q90H;ENSP00000400346:Q143H;ENSP00000400999:Q135H;ENSP00000384022:Q90H;ENSP00000416363:Q90H;ENSP00000412405:Q90H	ENSP00000308383:Q152H	Q	+	3	2	LSP1	1861324	0.605000	0.26941	0.110000	0.21437	0.076000	0.17211	2.548000	0.45794	1.528000	0.49103	0.457000	0.33378	CAG		0.637	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		7	27	0	0	0	0.001984	0	7	27				
TRPM5	29850	broad.mit.edu	37	11	2432703	2432703	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:2432703G>A	ENST00000155858.6	-	18	2669	c.2661C>T	c.(2659-2661)taC>taT	p.Y887Y	TRPM5_ENST00000533060.1_Silent_p.Y887Y|TRPM5_ENST00000452833.1_Silent_p.Y889Y|TRPM5_ENST00000528453.1_Silent_p.Y887Y	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5									p.Y887Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGTGACACCGTAGGCCACGA	0.652																																					NSCLC(1;49 61 17205 18850 43201)	NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2659-2661)TAC>TAT		transient receptor potential cation channel,							30.0	35.0	33.0					11																	2432703		2201	4295	6496	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432703G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2661C>T	11.37:g.2432703G>A						TRPM5_uc010qxl.1_Silent_p.Y887Y|TRPM5_uc009ydn.2_Silent_p.Y889Y	p.Y887Y	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2670	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	887			Helical; (Potential).			Silent	SNP	ENST00000155858.6	37	c.2661C>T	CCDS31340.1																																																																																				0.652	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		17	35	0	0	0	0.006122	0	17	35				
OR51S1	119692	broad.mit.edu	37	11	4869754	4869754	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:4869754C>T	ENST00000322101.2	-	1	760	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G229S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACACCTTGCCAATCAGGCCA	0.542																																							uc010qyo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(685-687)GGC>AGC		olfactory receptor, family 51, subfamily S,							75.0	73.0	73.0					11																	4869754		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869754C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.685G>A	11.37:g.4869754C>T	ENSP00000322754:p.Gly229Ser						p.G229S	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	685	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	229			Cytoplasmic (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.685G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323985	0.60634	.	.	ENSG00000176922	ENST00000322101	T	0.37058	1.22	5.25	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000254	T	0.24431	0.0592	L	0.41824	1.3	0.09310	N	0.999999	P	0.35793	0.521	B	0.35182	0.197	T	0.26087	-1.0113	10	0.87932	D	0	-4.006	2.5273	0.04694	0.1517:0.5379:0.1468:0.1636	.	229	Q8NGJ8	O51S1_HUMAN	S	229	ENSP00000322754:G229S	ENSP00000322754:G229S	G	-	1	0	OR51S1	4826330	0.000000	0.05858	0.918000	0.36340	0.748000	0.42578	-0.192000	0.09587	1.446000	0.47643	0.655000	0.94253	GGC		0.542	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		12	35	0	0	0	0.001368	0	12	35				
OR52N2	390077	broad.mit.edu	37	11	5842333	5842333	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:5842333T>A	ENST00000317037.2	+	1	790	c.768T>A	c.(766-768)gcT>gcA	p.A256A	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A256A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATGTTGCTGCTTTTTTCA	0.448																																							uc010qzp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(766-768)GCT>GCA		olfactory receptor, family 52, subfamily N,							207.0	163.0	178.0					11																	5842333		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842333T>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.768T>A	11.37:g.5842333T>A						TRIM5_uc001mbq.1_Intron	p.A256A	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	768	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	256			Helical; Name=6; (Potential).		Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.768T>A	CCDS31399.1																																																																																				0.448	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		10	105	0	0	0	0.008291	0	10	105				
FAM160A2	84067	broad.mit.edu	37	11	6232933	6232933	+	Missense_Mutation	SNP	G	G	A	rs139429864		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:6232933G>A	ENST00000449352.2	-	12	2985	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	FAM160A2_ENST00000265978.4_Missense_Mutation_p.R922W|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	908					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.R922W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCGCCCCGGGTGAGTAGA	0.597																																							uc001mcl.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2722-2724)CGG>TGG		hypothetical protein LOC84067 isoform 2		G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	46.0	56.0	53.0		2722,2764	0.8	0.2	11	dbSNP_134	53	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense	FAM160A2	NM_001098794.1,NM_032127.3	101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	908/973,922/987	6232933	1,12993	2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6232933G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2722C>T	11.37:g.6232933G>A	ENSP00000416918:p.Arg908Trp					FAM160A2_uc001mck.3_Missense_Mutation_p.R922W	p.R908W	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			12	3081	-			908					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2722C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	4.916	0.170196	0.09339	0.0	1.16E-4	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.09817	2.94;2.94	5.22	0.806	0.18708	.	0.872449	0.09881	N	0.743683	T	0.20047	0.0482	L	0.42245	1.32	0.26809	N	0.969049	D;P	0.76494	0.999;0.95	P;P	0.61940	0.896;0.551	T	0.18461	-1.0336	10	0.56958	D	0.05	-1.2411	8.681	0.34209	0.0:0.1407:0.4249:0.4344	.	908;922	Q8N612;Q8N612-2	F16A2_HUMAN;.	W	908;922	ENSP00000416918:R908W;ENSP00000265978:R922W	ENSP00000265978:R922W	R	-	1	2	FAM160A2	6189509	0.964000	0.33143	0.218000	0.23776	0.205000	0.24178	1.440000	0.35024	0.166000	0.19597	-0.133000	0.14855	CGG		0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		15	85	0	0	0	0.003163	0	15	85				
SYT9	143425	broad.mit.edu	37	11	7441797	7441797	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:7441797C>A	ENST00000318881.6	+	6	1635	c.1398C>A	c.(1396-1398)ggC>ggA	p.G466G		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	466					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.G466G(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGAGGCTGGGCAGAGACCACT	0.483																																							uc001mfe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1396-1398)GGC>GGA		synaptotagmin IX							167.0	142.0	150.0					11																	7441797		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7441797C>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1398C>A	11.37:g.7441797C>A						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.G466G	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	6	1635	+			466			Cytoplasmic (Potential).			Silent	SNP	ENST00000318881.6	37	c.1398C>A	CCDS7778.1																																																																																				0.483	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		31	42	1	0	9.93527e-08	0.002836	1.31446e-07	31	42				
SLC6A5	9152	broad.mit.edu	37	11	20636271	20636271	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:20636271G>T	ENST00000525748.1	+	6	1305	c.1032G>T	c.(1030-1032)tcG>tcT	p.S344S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	344					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S344S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCAAGAACTCGACTTTCTGCA	0.408																																							uc001mqd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1030-1032)TCG>TCT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						177.0	159.0	165.0					11																	20636271		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20636271G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1032G>T	11.37:g.20636271G>T						SLC6A5_uc009yic.2_Silent_p.S109S	p.S344S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			6	1305	+			344			Extracellular (Potential).		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.1032G>T	CCDS7854.1																																																																																				0.408	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		34	82	1	0	1.62565e-12	0.002445	2.48609e-12	34	82				
NELL1	4745	broad.mit.edu	37	11	21250989	21250989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:21250989C>A	ENST00000357134.5	+	14	1690	c.1538C>A	c.(1537-1539)aCc>aAc	p.T513N	NELL1_ENST00000298925.5_Missense_Mutation_p.T541N|NELL1_ENST00000325319.5_Missense_Mutation_p.T456N|NELL1_ENST00000532434.1_Missense_Mutation_p.T513N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	513	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.T513N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGAACGGGACCATCTGCAGA	0.577																																							uc001mqe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1537-1539)ACC>AAC		nel-like 1 isoform 1 precursor							97.0	68.0	78.0					11																	21250989		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21250989C>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1538C>A	11.37:g.21250989C>A	ENSP00000349654:p.Thr513Asn					NELL1_uc001mqf.2_Missense_Mutation_p.T513N|NELL1_uc009yid.2_Missense_Mutation_p.T541N|NELL1_uc010rdo.1_Missense_Mutation_p.T456N|NELL1_uc010rdp.1_Missense_Mutation_p.T273N	p.T513N	NM_006157	NP_006148	Q92832	NELL1_HUMAN			14	1691	+			513			EGF-like 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1538C>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664066	0.67700	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.81	5.81	0.92471	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;1.0	D;D;D;D	0.87578	0.997;0.998;0.949;0.998	D	0.92259	0.5815	10	0.30078	T	0.28	-7.6518	20.0826	0.97783	0.0:1.0:0.0:0.0	.	456;541;513;513	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	N	541;513;456;513	ENSP00000298925:T541N;ENSP00000349654:T513N;ENSP00000317837:T456N;ENSP00000437170:T513N	ENSP00000298925:T541N	T	+	2	0	NELL1	21207565	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	ACC		0.577	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		11	11	1	0	3.07112e-06	0.000978	3.80187e-06	11	11				
NELL1	4745	broad.mit.edu	37	11	21581833	21581833	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:21581833T>C	ENST00000357134.5	+	17	2037	c.1885T>C	c.(1885-1887)Tcc>Ccc	p.S629P	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000298925.5_Missense_Mutation_p.S657P|NELL1_ENST00000325319.5_Missense_Mutation_p.S572P|NELL1_ENST00000532434.1_Missense_Mutation_p.S582P	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	629	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.S629P(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTCTGGGCCCTCCTGCTCTGG	0.547																																							uc001mqe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1885-1887)TCC>CCC		nel-like 1 isoform 1 precursor							105.0	91.0	96.0					11																	21581833		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21581833T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1885T>C	11.37:g.21581833T>C	ENSP00000349654:p.Ser629Pro					NELL1_uc001mqf.2_Missense_Mutation_p.S582P|NELL1_uc009yid.2_Missense_Mutation_p.S657P|NELL1_uc010rdo.1_Missense_Mutation_p.S572P|NELL1_uc010rdp.1_Missense_Mutation_p.S342P|NELL1_uc001mqh.2_Intron	p.S629P	NM_006157	NP_006148	Q92832	NELL1_HUMAN			17	2038	+			629			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1885T>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369634	0.61624	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;T	0.82081	-1.57;-1.57;-1.57;-1.23	5.9	5.9	0.94986	Epidermal growth factor-like, type 3 (1);	0.371658	0.29113	N	0.013113	D	0.83843	0.5342	L	0.51914	1.62	0.36024	D	0.838948	P;P;P;P	0.52577	0.904;0.954;0.823;0.845	P;P;P;B	0.52159	0.564;0.691;0.596;0.361	D	0.87421	0.2382	10	0.49607	T	0.09	-14.9494	11.4152	0.49947	0.1347:0.0:0.0:0.8653	.	572;657;582;629	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	P	657;629;572;582	ENSP00000298925:S657P;ENSP00000349654:S629P;ENSP00000317837:S572P;ENSP00000437170:S582P	ENSP00000298925:S657P	S	+	1	0	NELL1	21538409	0.985000	0.35326	1.000000	0.80357	0.907000	0.53573	1.900000	0.39828	2.266000	0.75297	0.528000	0.53228	TCC		0.547	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		23	52	0	0	0	0.002299	0	23	52				
MPPED2	744	broad.mit.edu	37	11	30516971	30516971	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:30516971G>A	ENST00000358117.5	-	3	530	c.408C>T	c.(406-408)taC>taT	p.Y136Y	MPPED2_ENST00000448418.2_Silent_p.Y136Y	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	136					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Y136Y(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						AGGGGAAACGGTAGTAGTCCT	0.403																																							uc001msr.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(406-408)TAC>TAT		metallophosphoesterase domain containing 2							150.0	140.0	144.0					11																	30516971		2202	4299	6501	SO:0001819	synonymous_variant	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30516971G>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.408C>T	11.37:g.30516971G>A						MPPED2_uc001msq.3_Silent_p.Y136Y|MPPED2_uc009yji.2_Silent_p.Y10Y	p.Y136Y	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			3	528	-			136					D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	c.408C>T	CCDS7870.1																																																																																				0.403	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		5	58	0	0	0	0.000602	0	5	58				
RAG1	5896	broad.mit.edu	37	11	36596039	36596039	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:36596039C>A	ENST00000299440.5	+	2	1297	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	395					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P395P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGGCCGGCCCCGCCAACATC	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(1183-1185)CCC>CCA		recombination activating gene 1							40.0	47.0	45.0					11																	36596039		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596039C>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1185C>A	11.37:g.36596039C>A						RAG1_uc001mwt.2_RNA	p.P395P	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1309	+	all_lung(20;0.226)	all_hematologic(20;0.107)	395			NBD.		E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.1185C>A	CCDS7902.1																																																																																				0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		26	53	1	0	1.50538e-07	0.00632	1.96966e-07	26	53				
LRRC4C	57689	broad.mit.edu	37	11	40137206	40137206	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:40137206G>T	ENST00000278198.2	-	2	2600	c.637C>A	c.(637-639)Cct>Act	p.P213T	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P213T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P213T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	213					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P213T(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGGTTAGGGATTTCCCGA	0.458																																							uc001mxa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(637-639)CCT>ACT		netrin-G1 ligand precursor							87.0	85.0	86.0					11																	40137206		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137206G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.637C>A	11.37:g.40137206G>T	ENSP00000278198:p.Pro213Thr					LRRC4C_uc001mxc.1_Missense_Mutation_p.P209T|LRRC4C_uc001mxd.1_Missense_Mutation_p.P209T|LRRC4C_uc001mxb.1_Missense_Mutation_p.P209T	p.P213T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2601	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	213			LRR 6.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.637C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237336	0.58886	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01367	-1.1373	10	0.87932	D	0	.	18.6316	0.91361	0.0:0.0:1.0:0.0	.	213	Q9HCJ2	LRC4C_HUMAN	T	213	ENSP00000278198:P213T;ENSP00000436976:P213T;ENSP00000437132:P213T;ENSP00000434761:P213T	ENSP00000278198:P213T	P	-	1	0	LRRC4C	40093782	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.644000	0.89710	0.650000	0.86243	CCT		0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		23	47	1	0	1.55469e-16	0.00333	2.58277e-16	23	47				
PHF21A	51317	broad.mit.edu	37	11	46105753	46105753	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:46105753T>A	ENST00000418153.2	-	3	217	c.18A>T	c.(16-18)ctA>ctT	p.L6L	PHF21A_ENST00000257821.4_Silent_p.L6L|PHF21A_ENST00000323180.6_Silent_p.L6L			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	6	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L6L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GAGCCTCCTGTAGAGTCTGCA	0.403																																							uc001ncc.3		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(16-18)CTA>CTT		BRAF35/HDAC2 complex isoform a							131.0	124.0	126.0					11																	46105753		2201	4299	6500	SO:0001819	synonymous_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46105753T>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.18A>T	11.37:g.46105753T>A						PHF21A_uc001ncb.3_Silent_p.L6L|PHF21A_uc009ykx.2_Silent_p.L6L|PHF21A_uc001nce.2_Silent_p.L6L	p.L6L	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			3	642	-			6			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	c.18A>T	CCDS44578.1																																																																																				0.403	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		12	28	0	0	0	0.000978	0	12	28				
MYBPC3	4607	broad.mit.edu	37	11	47360129	47360129	+	Silent	SNP	C	C	A	rs373338699		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:47360129C>A	ENST00000545968.1	-	23	2304	c.2250G>T	c.(2248-2250)acG>acT	p.T750T	MYBPC3_ENST00000399249.2_Silent_p.T750T|MYBPC3_ENST00000256993.4_Silent_p.T749T	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	750	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.T750T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCACTGTGACCGTGTAGACGC	0.632																																							uc001nfa.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2248-2250)ACG>ACT		myosin binding protein C, cardiac							87.0	93.0	91.0					11																	47360129		2111	4220	6331	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360129C>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2250G>T	11.37:g.47360129C>A						MYBPC3_uc010rhl.1_RNA	p.T750T	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	22	2305	-			749			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.2250G>T	CCDS53621.1																																																																																				0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			16	27	1	0	3.52763e-06	0.00499	4.3565e-06	16	27				
FOLH1	2346	broad.mit.edu	37	11	49186290	49186290	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:49186290C>G	ENST00000256999.2	-	13	1667	c.1407G>C	c.(1405-1407)ctG>ctC	p.L469L	FOLH1_ENST00000533034.1_Silent_p.L454L|FOLH1_ENST00000340334.7_Silent_p.L454L|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Silent_p.L469L|FOLH1_ENST00000343844.4_Silent_p.L161L	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	469	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.L469L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AGCTGTACATCAGCGGTGTAC	0.279																																							uc001ngy.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1405-1407)CTG>CTC		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						42.0	43.0	43.0					11																	49186290		2197	4297	6494	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186290C>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1407G>C	11.37:g.49186290C>G						FOLH1_uc001ngz.2_Silent_p.L469L|FOLH1_uc009yly.2_Silent_p.L454L|FOLH1_uc009ylz.2_Silent_p.L454L|FOLH1_uc009yma.2_Silent_p.L161L	p.L469L	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			13	1668	-			469			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1407G>C	CCDS7946.1																																																																																				0.279	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	14	0	0	0	0.00499	0	14	14				
FOLH1	2346	broad.mit.edu	37	11	49229960	49229960	+	Start_Codon_SNP	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:49229960A>T	ENST00000256999.2	-	1	262	c.2T>A	c.(1-3)aTg>aAg	p.M1K	FOLH1_ENST00000533034.1_5'Flank|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000356696.3_Start_Codon_SNP_p.M1K|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	1					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.M1K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GAGATTCCACATCTCGGCGCG	0.692																																							uc001ngy.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1-3)ATG>AAG		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						8.0	11.0	10.0					11																	49229960		2173	4263	6436	SO:0001582	initiator_codon_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49229960A>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.2T>A	11.37:g.49229960A>T	ENSP00000256999:p.Met1Lys					FOLH1_uc001ngz.2_Missense_Mutation_p.M1K|FOLH1_uc009yly.2_5'UTR|FOLH1_uc009ylz.2_5'UTR|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_5'UTR	p.M1K	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			1	263	-			1			Cytoplasmic (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.2T>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699010	0.48307	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000389724	T;T	0.36878	1.23;1.26	4.19	3.05	0.35203	.	.	.	.	.	T	0.54240	0.1846	.	.	.	0.80722	D	1	D;P	0.53462	0.96;0.932	D;P	0.66979	0.948;0.888	T	0.54529	-0.8280	8	0.87932	D	0	.	7.9672	0.30107	0.7914:0.2085:0.0:0.0	.	1;1	Q04609-8;Q04609	.;FOLH1_HUMAN	K	1	ENSP00000256999:M1K;ENSP00000349129:M1K	ENSP00000256999:M1K	M	-	2	0	FOLH1	49186536	1.000000	0.71417	0.980000	0.43619	0.011000	0.07611	3.902000	0.56310	0.772000	0.33382	-0.338000	0.08134	ATG		0.692	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	Missense_Mutation	3	10	0	0	0	0.009096	0	3	10				
OR5L1	219437	broad.mit.edu	37	11	55579417	55579417	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55579417C>A	ENST00000333973.2	+	1	564	c.475C>A	c.(475-477)Cat>Aat	p.H159N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H159N(1)|p.H159Y(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTCTGATTCATTTGTGCTT	0.443																																							uc001nhw.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(475-477)CAT>AAT		olfactory receptor, family 5, subfamily L,							215.0	188.0	197.0					11																	55579417		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579417C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.475C>A	11.37:g.55579417C>A	ENSP00000335529:p.His159Asn						p.H159N	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	475	+		all_epithelial(135;0.208)	159			Helical; Name=4; (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.475C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	13.09	2.134359	0.37630	.	.	ENSG00000186117	ENST00000333973	T	0.00262	8.4	4.18	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00356	0.0011	L	0.61387	1.9	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.51228	-0.8732	10	0.59425	D	0.04	-34.9027	3.0008	0.06012	0.1784:0.542:0.1737:0.1059	.	159	Q8NGL2	OR5L1_HUMAN	N	159	ENSP00000335529:H159N	ENSP00000335529:H159N	H	+	1	0	OR5L1	55335993	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	0.069000	0.14552	0.175000	0.19841	0.435000	0.28638	CAT		0.443	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		52	171	1	0	2.27781e-18	0.00361	3.87177e-18	52	171				
OR5L1	219437	broad.mit.edu	37	11	55579652	55579652	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55579652C>A	ENST00000333973.2	+	1	799	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGGCACAAAGCCTTCTCCACC	0.498																																							uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(709-711)GCC>GAC		olfactory receptor, family 5, subfamily L,							192.0	156.0	168.0					11																	55579652		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579652C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.710C>A	11.37:g.55579652C>A	ENSP00000335529:p.Ala237Asp						p.A237D	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	710	+		all_epithelial(135;0.208)	237			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.710C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111918	0.77210	.	.	ENSG00000186117	ENST00000333973	T	0.00358	7.88	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.01627	0.0052	H	0.98629	4.285	0.46823	D	0.99921	D	0.89917	1.0	D	0.77557	0.99	T	0.17623	-1.0363	10	0.87932	D	0	-14.3821	15.121	0.72443	0.0:1.0:0.0:0.0	.	237	Q8NGL2	OR5L1_HUMAN	D	237	ENSP00000335529:A237D	ENSP00000335529:A237D	A	+	2	0	OR5L1	55336228	1.000000	0.71417	0.077000	0.20336	0.824000	0.46624	5.513000	0.67037	1.875000	0.54330	0.428000	0.28381	GCC		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		32	115	1	0	2.47511e-08	0.008361	3.35534e-08	32	115				
OR7E5P	219445	broad.mit.edu	37	11	55747441	55747441	+	IGR	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55747441C>A								OR10AG1 (11451 upstream) : OR5F1 (13715 downstream)														p.V6L(1)									TTCCCCAGCACCGTGACCAGG	0.577																																							uc010riu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(16-18)GTG>TTG		SubName: Full=HCG2036849; SubName: Full=Seven transmembrane helix receptor;																																				SO:0001628	intergenic_variant	219445							g.chr11:55747441C>A																													11.37:g.55747441C>A							p.V6L	NR_027688						4	571	-									Missense_Mutation	SNP		37	c.16G>T																																																																																				0	0.577									14	37	1	0	2.94398e-08	0.007413	3.97347e-08	14	37				
OR5F1	338674	broad.mit.edu	37	11	55761205	55761205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55761205C>A	ENST00000278409.1	-	1	896	c.897G>T	c.(895-897)aaG>aaT	p.K299N		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	299					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)	p.K299N(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCGCTAAAGCCTTCTTTACTT	0.398																																							uc010riv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(895-897)AAG>AAT		olfactory receptor, family 5, subfamily F,							61.0	63.0	62.0					11																	55761205		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761205C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.897G>T	11.37:g.55761205C>A	ENSP00000278409:p.Lys299Asn						p.K299N	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	897	-	Esophageal squamous(21;0.00448)		299			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.897G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.338146	0.00224	.	.	ENSG00000149133	ENST00000278409	T	0.38240	1.15	2.99	-0.465	0.12157	.	.	.	.	.	T	0.11239	0.0274	N	0.05574	-0.02	0.09310	N	1	B	0.31125	0.309	B	0.22386	0.039	T	0.24048	-1.0171	9	0.02654	T	1	.	3.2683	0.06873	0.1899:0.4248:0.0:0.3852	.	299	O95221	OR5F1_HUMAN	N	299	ENSP00000278409:K299N	ENSP00000278409:K299N	K	-	3	2	OR5F1	55517781	0.000000	0.05858	0.274000	0.24659	0.095000	0.18619	-5.960000	0.00088	-0.030000	0.13804	0.289000	0.19496	AAG		0.398	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		20	61	1	0	8.10497e-08	0.010504	1.07323e-07	20	61				
OR5F1	338674	broad.mit.edu	37	11	55761253	55761253	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55761253G>C	ENST00000278409.1	-	1	848	c.849C>G	c.(847-849)ccC>ccG	p.P283P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	283					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)	p.P283P(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GATTCAACATGGGAATCACCA	0.443																																							uc010riv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(847-849)CCC>CCG		olfactory receptor, family 5, subfamily F,							76.0	77.0	77.0					11																	55761253		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761253G>C	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.849C>G	11.37:g.55761253G>C							p.P283P	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	849	-	Esophageal squamous(21;0.00448)		283			Helical; Name=7; (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.849C>G	CCDS31515.1																																																																																				0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		31	85	0	0	0	0.009535	0	31	85				
OR5AS1	219447	broad.mit.edu	37	11	55798679	55798679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55798679C>A	ENST00000313555.1	+	1	785	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262H(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TACTTACAGCCCACCACTAGC	0.418																																							uc010riw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(784-786)CCC>CAC		olfactory receptor, family 5, subfamily AS,							109.0	92.0	98.0					11																	55798679		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798679C>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.785C>A	11.37:g.55798679C>A	ENSP00000324111:p.Pro262His						p.P262H	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	785	+	Esophageal squamous(21;0.00693)		262			Extracellular (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.785C>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510507	0.27036	.	.	ENSG00000181785	ENST00000313555	T	0.00272	8.36	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33235	U	0.005124	T	0.01189	0.0039	H	0.95224	3.64	0.19300	N	0.999971	D	0.89917	1.0	D	0.97110	1.0	T	0.19257	-1.0311	10	0.87932	D	0	.	17.1705	0.86828	0.0:1.0:0.0:0.0	.	262	Q8N127	O5AS1_HUMAN	H	262	ENSP00000324111:P262H	ENSP00000324111:P262H	P	+	2	0	OR5AS1	55555255	0.032000	0.19561	0.498000	0.27564	0.047000	0.14425	0.637000	0.24659	2.391000	0.81399	0.579000	0.79373	CCC		0.418	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		26	93	1	0	4.47668e-21	0.003954	7.77236e-21	26	93				
OR8H2	390151	broad.mit.edu	37	11	55873273	55873273	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55873273A>G	ENST00000313503.1	+	1	755	c.755A>G	c.(754-756)tAt>tGt	p.Y252C		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y252C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACCATCTTTTATAGCACTCTG	0.373										HNSCC(53;0.14)																													uc010riy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(754-756)TAT>TGT		olfactory receptor, family 8, subfamily H,							90.0	90.0	90.0					11																	55873273		2201	4295	6496	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873273A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.755A>G	11.37:g.55873273A>G	ENSP00000323982:p.Tyr252Cys	HNSCC(53;0.14)					p.Y252C	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	755	+	Esophageal squamous(21;0.00693)		252			Helical; Name=6; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.755A>G	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	a	7.001	0.554885	0.13436	.	.	ENSG00000181767	ENST00000313503	T	0.41758	0.99	3.58	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.291767	0.25106	N	0.033085	T	0.52240	0.1722	M	0.89534	3.04	0.09310	N	1	P	0.35348	0.496	B	0.43728	0.429	T	0.54153	-0.8336	10	0.72032	D	0.01	.	4.0295	0.09703	0.4877:0.0:0.1011:0.4112	.	252	Q8N162	OR8H2_HUMAN	C	252	ENSP00000323982:Y252C	ENSP00000323982:Y252C	Y	+	2	0	OR8H2	55629849	0.029000	0.19370	0.057000	0.19452	0.521000	0.34408	0.183000	0.16919	0.490000	0.27771	0.362000	0.22060	TAT		0.373	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		32	80	0	0	0	0.002445	0	32	80				
OR8H2	390151	broad.mit.edu	37	11	55873419	55873419	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55873419G>T	ENST00000313503.1	+	1	901	c.901G>T	c.(901-903)Gtc>Ttc	p.V301F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V301F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAAAATGCTGTCATCAGAGT	0.373										HNSCC(53;0.14)																													uc010riy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(901-903)GTC>TTC		olfactory receptor, family 8, subfamily H,							81.0	89.0	86.0					11																	55873419		2201	4295	6496	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873419G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.901G>T	11.37:g.55873419G>T	ENSP00000323982:p.Val301Phe	HNSCC(53;0.14)					p.V301F	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	901	+	Esophageal squamous(21;0.00693)		301			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.901G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	N	1.722	-0.496286	0.04291	.	.	ENSG00000181767	ENST00000313503	T	0.35605	1.3	3.35	-6.71	0.01760	.	1.103230	0.07095	N	0.839485	T	0.13927	0.0337	N	0.05487	-0.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26608	-1.0098	10	0.11794	T	0.64	.	6.7612	0.23542	0.0937:0.2911:0.4809:0.1343	.	301	Q8N162	OR8H2_HUMAN	F	301	ENSP00000323982:V301F	ENSP00000323982:V301F	V	+	1	0	OR8H2	55629995	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-3.395000	0.00486	-2.606000	0.00448	-3.686000	0.00024	GTC		0.373	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		10	157	1	0	6.40141e-05	0.000978	7.49101e-05	10	157				
OR8H3	390152	broad.mit.edu	37	11	55890240	55890240	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55890240A>T	ENST00000313472.3	+	1	392	c.392A>T	c.(391-393)cAc>cTc	p.H131L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H131L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AGTCCTCTACACTACACAGTT	0.463																																							uc001nii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(391-393)CAC>CTC		olfactory receptor, family 8, subfamily H,							172.0	156.0	162.0					11																	55890240		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890240A>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.392A>T	11.37:g.55890240A>T	ENSP00000323928:p.His131Leu						p.H131L	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	392	+	Esophageal squamous(21;0.00693)		131			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.392A>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.220968	0.00286	.	.	ENSG00000181761	ENST00000313472	T	0.01335	5.0	3.44	-4.97	0.03029	GPCR, rhodopsin-like superfamily (1);	0.904674	0.09471	N	0.797685	T	0.00552	0.0018	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.47837	-0.9086	10	0.02654	T	1	.	1.0913	0.01664	0.4027:0.2023:0.2532:0.1418	.	131	Q8N146	OR8H3_HUMAN	L	131	ENSP00000323928:H131L	ENSP00000323928:H131L	H	+	2	0	OR8H3	55646816	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-1.239000	0.02916	-0.414000	0.07495	0.145000	0.16022	CAC		0.463	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		64	190	0	0	0	0.00361	0	64	190				
OR8J3	81168	broad.mit.edu	37	11	55904371	55904371	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55904371G>T	ENST00000301529.1	-	1	823	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S275Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GTAAAACACAGAAGCCATCTT	0.398																																							uc010riz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(823-825)TCT>TAT		olfactory receptor, family 8, subfamily J,							139.0	137.0	138.0					11																	55904371		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904371G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.824C>A	11.37:g.55904371G>T	ENSP00000301529:p.Ser275Tyr						p.S275Y	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	824	-	Esophageal squamous(21;0.00693)		275			Helical; Name=7; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.824C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203240	0.38905	.	.	ENSG00000167822	ENST00000301529	T	0.00274	8.35	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.01287	0.0042	H	0.98612	4.28	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13926	-1.0491	10	0.87932	D	0	.	14.473	0.67529	0.0:0.0:1.0:0.0	.	275	Q8NGG0	OR8J3_HUMAN	Y	275	ENSP00000301529:S275Y	ENSP00000301529:S275Y	S	-	2	0	OR8J3	55660947	0.102000	0.21896	0.990000	0.47175	0.855000	0.48748	2.758000	0.47565	1.553000	0.49476	0.297000	0.19635	TCT		0.398	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		23	123	1	0	5.35356e-11	0.00278	7.91977e-11	23	123				
OR8J3	81168	broad.mit.edu	37	11	55905109	55905109	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:55905109A>T	ENST00000301529.1	-	1	85	c.86T>A	c.(85-87)cTg>cAg	p.L29Q		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L29Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGGAAGACCAGGAAGAGGGG	0.493																																							uc010riz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(85-87)CTG>CAG		olfactory receptor, family 8, subfamily J,							122.0	122.0	122.0					11																	55905109		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905109A>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.86T>A	11.37:g.55905109A>T	ENSP00000301529:p.Leu29Gln						p.L29Q	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	86	-	Esophageal squamous(21;0.00693)		29			Helical; Name=1; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.86T>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168366	0.38315	.	.	ENSG00000167822	ENST00000301529	T	0.00457	7.29	3.26	0.699	0.18093	.	0.598725	0.15665	N	0.250698	T	0.00967	0.0032	M	0.89840	3.065	0.09310	N	1	P	0.48640	0.913	P	0.52710	0.707	T	0.39820	-0.9595	10	0.62326	D	0.03	.	4.9499	0.14009	0.3016:0.3619:0.3366:0.0	.	29	Q8NGG0	OR8J3_HUMAN	Q	29	ENSP00000301529:L29Q	ENSP00000301529:L29Q	L	-	2	0	OR8J3	55661685	0.000000	0.05858	0.006000	0.13384	0.493000	0.33554	0.532000	0.23067	-0.093000	0.12396	0.240000	0.17902	CTG		0.493	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		18	181	0	0	0	0.00499	0	18	181				
OR5T1	390155	broad.mit.edu	37	11	56043987	56043987	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56043987C>A	ENST00000313033.2	+	1	959	c.873C>A	c.(871-873)acC>acA	p.T291T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T291T(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TATTTTATACCATTGTGATTC	0.383																																							uc001nio.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(871-873)ACC>ACA		olfactory receptor, family 5, subfamily T,							157.0	141.0	147.0					11																	56043987		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043987C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.873C>A	11.37:g.56043987C>A							p.T291T	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	873	+	Esophageal squamous(21;0.00448)		291			Helical; Name=7; (Potential).		B2RNM9	Silent	SNP	ENST00000313033.2	37	c.873C>A	CCDS31525.1																																																																																				0.383	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		34	128	1	0	6.70999e-13	0.004289	1.03334e-12	34	128				
OR8J1	219477	broad.mit.edu	37	11	56127765	56127765	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56127765A>T	ENST00000303039.3	+	1	75	c.43A>T	c.(43-45)Aca>Tca	p.T15S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T15S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTTATTCTTACAGGTGTCTC	0.463																																							uc010rjh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(43-45)ACA>TCA		olfactory receptor, family 8, subfamily J,							79.0	82.0	81.0					11																	56127765		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127765A>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.43A>T	11.37:g.56127765A>T	ENSP00000304060:p.Thr15Ser						p.T15S	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	43	+	Esophageal squamous(21;0.00448)		15			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.43A>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	A	6.666	0.491508	0.12702	.	.	ENSG00000172487	ENST00000303039	T	0.00433	7.43	4.68	-2.63	0.06133	.	1.477610	0.03904	N	0.280810	T	0.00210	0.0006	N	0.13327	0.33	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.39165	-0.9627	10	0.44086	T	0.13	.	2.008	0.03481	0.2446:0.3611:0.2702:0.124	.	15	Q8NGP2	OR8J1_HUMAN	S	15	ENSP00000304060:T15S	ENSP00000304060:T15S	T	+	1	0	OR8J1	55884341	0.000000	0.05858	0.002000	0.10522	0.128000	0.20619	-1.624000	0.02038	-0.289000	0.09038	0.523000	0.50628	ACA		0.463	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		13	150	0	0	0	0.00499	0	13	150				
OR8J1	219477	broad.mit.edu	37	11	56127775	56127775	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56127775C>T	ENST00000303039.3	+	1	85	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S18F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACAGGTGTCTCTAGCTGTCCA	0.478																																							uc010rjh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(52-54)TCT>TTT		olfactory receptor, family 8, subfamily J,							90.0	91.0	91.0					11																	56127775		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127775C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.53C>T	11.37:g.56127775C>T	ENSP00000304060:p.Ser18Phe						p.S18F	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	53	+	Esophageal squamous(21;0.00448)		18			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.53C>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	9.358	1.067251	0.20067	.	.	ENSG00000172487	ENST00000303039	T	0.00441	7.41	4.68	3.77	0.43336	.	0.000000	0.51477	D	0.000087	T	0.00695	0.0023	L	0.55213	1.73	0.19575	N	0.999969	D	0.56746	0.977	P	0.62014	0.897	T	0.49485	-0.8935	10	0.87932	D	0	.	8.071	0.30689	0.0:0.7539:0.1586:0.0875	.	18	Q8NGP2	OR8J1_HUMAN	F	18	ENSP00000304060:S18F	ENSP00000304060:S18F	S	+	2	0	OR8J1	55884351	0.001000	0.12720	0.473000	0.27253	0.024000	0.10985	1.448000	0.35112	1.110000	0.41699	-0.134000	0.14843	TCT		0.478	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		33	142	0	0	0	0.005524	0	33	142				
OR5M1	390168	broad.mit.edu	37	11	56380835	56380835	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:56380835C>A	ENST00000526538.1	-	1	143	c.144G>T	c.(142-144)ctG>ctT	p.L48L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L48L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGGTCCTGATCAGCAGGATCA	0.478																																							uc001nja.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(142-144)CTG>CTT		olfactory receptor, family 5, subfamily M,							168.0	166.0	167.0					11																	56380835		1984	4168	6152	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380835C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.144G>T	11.37:g.56380835C>A							p.L48L	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	144	-			48			Cytoplasmic (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.144G>T	CCDS53631.1																																																																																				0.478	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		25	147	1	0	1.66031e-10	0.003954	2.42587e-10	25	147				
APLNR	187	broad.mit.edu	37	11	57004333	57004333	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57004333A>T	ENST00000606794.1	-	1	342	c.146T>A	c.(145-147)gTg>gAg	p.V49E		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	49					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.V49E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGTCCAGAGCACCAGACCGTT	0.597																																							uc001njo.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(145-147)GTG>GAG		apelin receptor							75.0	71.0	72.0					11																	57004333		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57004333A>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.146T>A	11.37:g.57004333A>T	ENSP00000475344:p.Val49Glu					APLNR_uc001njn.3_RNA	p.V49E	NM_005161	NP_005152	P35414	APJ_HUMAN			1	595	-			49			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.146T>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250007	0.80024	.	.	ENSG00000134817	ENST00000257254;ENST00000444275	D	0.84873	-1.91	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.95497	0.8537	H	0.98701	4.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.87932	D	0	-26.2186	13.3825	0.60775	1.0:0.0:0.0:0.0	.	49	P35414	APJ_HUMAN	E	49;14	ENSP00000257254:V49E	ENSP00000257254:V49E	V	-	2	0	APLNR	56760909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.467000	0.80930	1.991000	0.58162	0.459000	0.35465	GTG		0.597	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		17	56	0	0	0	0.008871	0	17	56				
SLC43A3	29015	broad.mit.edu	37	11	57177518	57177518	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57177518G>A	ENST00000395123.2	-	12	1441	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	RP11-872D17.8_ENST00000529411.1_Silent_p.F23F|SLC43A3_ENST00000529554.1_Silent_p.F379F|SLC43A3_ENST00000395124.1_Silent_p.F379F|SLC43A3_ENST00000533524.1_Silent_p.F392F|SLC43A3_ENST00000352187.1_Silent_p.F379F	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	379					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.F379F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CACAGAGGGCGAAGCCCAGGC	0.617																																							uc001nkg.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1135-1137)TTC>TTT		solute carrier family 43, member 3							97.0	73.0	81.0					11																	57177518		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57177518G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1137C>T	11.37:g.57177518G>A						PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Silent_p.F379F|SLC43A3_uc010rjr.1_Silent_p.F392F|SLC43A3_uc009yme.2_Silent_p.F379F|SLC43A3_uc001nki.2_Silent_p.F379F	p.F379F	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			12	1547	-			379					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1137C>T	CCDS7956.1																																																																																				0.617	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		4	53	0	0	0	0.009096	0	4	53				
OR9I1	219954	broad.mit.edu	37	11	57886367	57886367	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57886367G>T	ENST00000302610.1	-	1	549	c.550C>A	c.(550-552)Ctg>Atg	p.L184M	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L184M(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGCTTCAGCAGGGGTGGGAGG	0.488																																							uc001nml.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(550-552)CTG>ATG		olfactory receptor, family 9, subfamily I,							72.0	69.0	70.0					11																	57886367		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886367G>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.550C>A	11.37:g.57886367G>T	ENSP00000302606:p.Leu184Met					OR9Q1_uc001nmj.2_Intron	p.L184M	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	550	-		Breast(21;0.0589)	184			Extracellular (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.550C>A	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	G	9.404	1.078669	0.20227	.	.	ENSG00000172377	ENST00000302610	T	0.00224	8.51	4.8	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001754	T	0.00440	0.0014	M	0.77486	2.375	0.22918	N	0.998568	D	0.89917	1.0	D	0.97110	1.0	T	0.45011	-0.9290	10	0.87932	D	0	-11.0384	3.9833	0.09504	0.1742:0.0:0.623:0.2028	.	184	Q8NGQ6	OR9I1_HUMAN	M	184	ENSP00000302606:L184M	ENSP00000302606:L184M	L	-	1	2	OR9I1	57642943	0.003000	0.15002	0.986000	0.45419	0.018000	0.09664	-0.091000	0.11146	2.667000	0.90743	0.460000	0.39030	CTG		0.488	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		9	39	1	0	0.00448238	0.004482	0.00488872	9	39				
OR9Q2	219957	broad.mit.edu	37	11	57958771	57958771	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:57958771G>T	ENST00000311591.3	+	1	866	c.809G>T	c.(808-810)gGa>gTa	p.G270V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G270V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCCTCCGAGGGAGACCGAGTG	0.547																																							uc010rka.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(808-810)GGA>GTA		olfactory receptor, family 9, subfamily Q,							102.0	94.0	96.0					11																	57958771		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958771G>T	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.809G>T	11.37:g.57958771G>T	ENSP00000308714:p.Gly270Val						p.G270V	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	809	+		Breast(21;0.0589)	270			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.809G>T	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	6.349	0.432461	0.12045	.	.	ENSG00000186513	ENST00000311591	T	0.00054	8.8	5.09	-0.708	0.11241	GPCR, rhodopsin-like superfamily (1);	0.891435	0.09374	N	0.810935	T	0.00073	0.0002	N	0.03967	-0.31	0.09310	N	1	B	0.29805	0.257	B	0.31390	0.129	T	0.01874	-1.1256	10	0.48119	T	0.1	-0.006	6.6122	0.22757	0.1286:0.1283:0.614:0.1291	.	270	Q8NGE9	OR9Q2_HUMAN	V	270	ENSP00000308714:G270V	ENSP00000308714:G270V	G	+	2	0	OR9Q2	57715347	0.000000	0.05858	0.000000	0.03702	0.598000	0.36846	-0.489000	0.06490	-0.189000	0.10482	0.655000	0.94253	GGA		0.547	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		27	94	1	0	2.50493e-22	0.004656	4.39862e-22	27	94				
OR5B17	219965	broad.mit.edu	37	11	58126446	58126446	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:58126446A>T	ENST00000357377.3	-	1	96	c.97T>A	c.(97-99)Tac>Aac	p.Y33N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y33N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGATGAGGTAGATGAGGGTA	0.448																																							uc010rke.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(97-99)TAC>AAC		olfactory receptor, family 5, subfamily B,							90.0	91.0	90.0					11																	58126446		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126446A>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.97T>A	11.37:g.58126446A>T	ENSP00000349945:p.Tyr33Asn						p.Y33N	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	97	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	33			Helical; Name=1; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.97T>A	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	a	18.98	3.737567	0.69304	.	.	ENSG00000197786	ENST00000357377	T	0.04654	3.58	3.6	3.6	0.41247	.	.	.	.	.	T	0.32285	0.0824	H	0.97635	4.045	0.34864	D	0.742885	D	0.89917	1.0	D	0.87578	0.998	T	0.61038	-0.7143	9	0.87932	D	0	.	11.1791	0.48616	1.0:0.0:0.0:0.0	.	33	Q8NGF7	OR5BH_HUMAN	N	33	ENSP00000349945:Y33N	ENSP00000349945:Y33N	Y	-	1	0	OR5B17	57883022	1.000000	0.71417	0.858000	0.33744	0.010000	0.07245	6.737000	0.74816	1.505000	0.48720	0.378000	0.23410	TAC		0.448	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		43	146	0	0	0	0.00874	0	43	146				
OR4D10	390197	broad.mit.edu	37	11	59245584	59245584	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:59245584C>G	ENST00000530162.1	+	1	739	c.682C>G	c.(682-684)Cag>Gag	p.Q228E		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q228E(1)|p.Q226E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCAAGTCTCAGGCAGGAGA	0.507																																							uc001nnz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(682-684)CAG>GAG		olfactory receptor, family 4, subfamily D,							100.0	94.0	96.0					11																	59245584		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245584C>G	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.682C>G	11.37:g.59245584C>G	ENSP00000436424:p.Gln228Glu						p.Q228E	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	682	+			228			Cytoplasmic (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.682C>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	6.885	0.532827	0.13127	.	.	ENSG00000254466	ENST00000530162	T	0.00369	7.74	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00524	0.0017	L	0.56280	1.765	0.09310	N	1	B	0.30406	0.278	B	0.39935	0.314	T	0.51624	-0.8682	9	0.87932	D	0	.	16.5781	0.84706	0.0:1.0:0.0:0.0	.	228	Q8NGI6	OR4DA_HUMAN	E	228	ENSP00000436424:Q228E	ENSP00000436424:Q228E	Q	+	1	0	OR4D10	59002160	0.018000	0.18449	0.690000	0.30148	0.009000	0.06853	2.869000	0.48444	2.306000	0.77630	0.650000	0.86243	CAG		0.507	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		13	111	0	0	0	0.001855	0	13	111				
MS4A14	84689	broad.mit.edu	37	11	60164178	60164178	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:60164178A>T	ENST00000300187.6	+	1	404	c.127A>T	c.(127-129)Aga>Tga	p.R43*	MS4A14_ENST00000395005.2_Nonsense_Mutation_p.R43*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.R43*|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	43						integral component of membrane (GO:0016021)		p.R43*(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGGAGAGCCAAGAGTCTTGGG	0.428																																							uc001npj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(127-129)AGA>TGA		membrane-spanning 4-domains, subfamily A, member							74.0	65.0	68.0					11																	60164178		2203	4300	6503	SO:0001587	stop_gained	84689					integral to membrane	receptor activity	g.chr11:60164178A>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.127A>T	11.37:g.60164178A>T	ENSP00000300187:p.Arg43*					MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_Translation_Start_Site|MS4A14_uc001npk.2_Nonsense_Mutation_p.R43*|MS4A14_uc001npl.2_Translation_Start_Site|MS4A14_uc001npm.2_Translation_Start_Site	p.R43*	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			1	692	+			43					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Nonsense_Mutation	SNP	ENST00000300187.6	37	c.127A>T	CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.795171|5.795171	0.96952|0.96952	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000534688|ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	.|.	.|.	.|.	4.58|4.58	-0.502|-0.502	0.12004|0.12004	.|.	.|0.364054	.|0.28908	.|N	.|0.013746	T|.	0.20088|.	0.0483|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16541|.	-1.0399|.	4|.	.|0.22109	.|T	.|0.4	-10.8738|-10.8738	4.1985|4.1985	0.10455|0.10455	0.487:0.2103:0.3027:0.0|0.487:0.2103:0.3027:0.0	.|.	.|.	.|.	.|.	H|X	1|43	.|.	.|ENSP00000300187:R43X	Q|R	+|+	3|1	2|2	MS4A14|MS4A14	59920754|59920754	0.746000|0.746000	0.28272|0.28272	0.056000|0.056000	0.19401|0.19401	0.924000|0.924000	0.55760|0.55760	0.983000|0.983000	0.29552|0.29552	-0.269000|-0.269000	0.09298|0.09298	0.533000|0.533000	0.62120|0.62120	CAA|AGA		0.428	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			8	39	0	0	0	0.000978	0	8	39				
TUT1	64852	broad.mit.edu	37	11	62356562	62356562	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:62356562G>C	ENST00000476907.1	-	2	905	c.214C>G	c.(214-216)Ctc>Gtc	p.L72V	TUT1_ENST00000308436.7_Missense_Mutation_p.L110V|MIR3654_ENST00000496634.2_Missense_Mutation_p.L72V			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	72	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.L110V(1)|p.L72V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TACTCAGAGAGCTGAGCAGAA	0.507																																							uc001nto.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(328-330)CTC>GTC		terminal uridylyl transferase 1, U6							110.0	97.0	101.0					11																	62356562		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62356562G>C	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.214C>G	11.37:g.62356562G>C	ENSP00000419607:p.Leu72Val						p.L110V	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			2	366	-			72			RRM.		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.328C>G		.	.	.	.	.	.	.	.	.	.	G	18.80	3.702019	0.68501	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000278279	T;T;T	0.58940	2.64;2.64;0.3	4.95	4.95	0.65309	.	0.152989	0.42294	D	0.000734	T	0.66694	0.2815	L	0.49455	1.56	0.28918	N	0.892285	D	0.60160	0.987	P	0.58928	0.848	T	0.63506	-0.6622	10	0.40728	T	0.16	-10.5229	15.7402	0.77887	0.0:0.0:1.0:0.0	.	110	F5H0R1	.	V	110;72;72	ENSP00000308000:L110V;ENSP00000419607:L72V;ENSP00000278279:L72V	ENSP00000441670:L72V	L	-	1	0	TUT1	62113138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.520000	0.53465	2.267000	0.75376	0.644000	0.83932	CTC		0.507	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		4	64	0	0	0	0.009096	0	4	64				
ROM1	6094	broad.mit.edu	37	11	62380969	62380969	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:62380969G>A	ENST00000278833.3	+	1	757	c.216G>A	c.(214-216)gtG>gtA	p.V72V	EML3_ENST00000494176.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000394773.2_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000278845.4_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	72					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)		p.V72V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CGGGCGCGGTGGCTCTGGGCA	0.677																																							uc001ntv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(214-216)GTG>GTA		retinal outer segment membrane protein 1							50.0	40.0	43.0					11																	62380969		2202	4298	6500	SO:0001819	synonymous_variant	6094				cell adhesion|visual perception	integral to plasma membrane		g.chr11:62380969G>A	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.216G>A	11.37:g.62380969G>A						EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	p.V72V	NM_000327	NP_000318	Q03395	ROM1_HUMAN			1	757	+			72			Helical; (Potential).		B2R978	Silent	SNP	ENST00000278833.3	37	c.216G>A	CCDS8024.1																																																																																				0.677	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		4	24	0	0	0	0.000602	0	4	24				
SLC3A2	6520	broad.mit.edu	37	11	62655812	62655812	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:62655812G>A	ENST00000377890.2	+	12	1708	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.E515K|SLC3A2_ENST00000535296.1_Missense_Mutation_p.E483K|SLC3A2_ENST00000338663.7_Missense_Mutation_p.E413K|SLC3A2_ENST00000536981.1_Missense_Mutation_p.E59K|SLC3A2_ENST00000377889.2_Missense_Mutation_p.E452K|SLC3A2_ENST00000377892.1_Missense_Mutation_p.E545K	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	514					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.E545K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGGCCAGAGTGAAGACCCTGG	0.587																																							uc001nwd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1540-1542)GAA>AAA		solute carrier family 3, member 2 isoform c							50.0	49.0	50.0					11																	62655812		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62655812G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1540G>A	11.37:g.62655812G>A	ENSP00000367122:p.Glu514Lys					SLC3A2_uc001nwb.2_Missense_Mutation_p.E545K|SLC3A2_uc001nwc.2_Missense_Mutation_p.E515K|SLC3A2_uc001nwe.2_Missense_Mutation_p.E483K|SLC3A2_uc001nwf.2_Missense_Mutation_p.E452K|SLC3A2_uc001nwg.2_Missense_Mutation_p.E413K	p.E514K	NM_002394	NP_002385	P08195	4F2_HUMAN			12	1764	+			514			Extracellular (Potential).		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1540G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	5.370	0.253559	0.10185	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000539891;ENST00000536981	D;D;D;D;D;D;D;D	0.99511	-4.77;-4.78;-4.79;-4.76;-4.77;-4.76;-6.05;-6.05	4.67	2.73	0.32206	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.904650	0.09539	N	0.788567	D	0.97167	0.9074	L	0.53249	1.67	0.09310	N	1	P;B;B;B;B	0.39831	0.69;0.004;0.004;0.103;0.014	B;B;B;B;B	0.26517	0.07;0.008;0.002;0.015;0.009	D	0.94621	0.7813	10	0.14252	T	0.57	-1.8268	5.389	0.16234	0.1828:0.1705:0.6467:0.0	.	452;483;514;413;545	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	K	545;515;514;515;452;483;413;395;59;59	ENSP00000367124:E545K;ENSP00000367123:E515K;ENSP00000367122:E514K;ENSP00000367121:E452K;ENSP00000444236:E483K;ENSP00000340815:E413K;ENSP00000438353:E59K;ENSP00000444439:E59K	ENSP00000340815:E413K	E	+	1	0	SLC3A2	62412388	0.000000	0.05858	0.133000	0.22050	0.784000	0.44337	0.258000	0.18387	0.967000	0.38186	0.298000	0.19748	GAA		0.587	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		15	87	0	0	0	0.004007	0	15	87				
GAL3ST3	89792	broad.mit.edu	37	11	65811101	65811101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:65811101G>T	ENST00000312006.4	-	3	454	c.173C>A	c.(172-174)cCg>cAg	p.P58Q	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P58Q	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	58					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.P58Q(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGGGCGCGGCGGCGAGTTCCG	0.647																																							uc001ogv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)CCG>CAG		galactose-3-O-sulfotransferase 3							24.0	20.0	22.0					11																	65811101		2188	4278	6466	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65811101G>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.173C>A	11.37:g.65811101G>T	ENSP00000308591:p.Pro58Gln					GAL3ST3_uc001ogw.2_Missense_Mutation_p.P58Q	p.P58Q	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN			2	333	-			58			Lumenal (Potential).		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.173C>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	g	8.917	0.960224	0.18507	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99727	-6.55;-6.55	4.11	2.25	0.28309	.	0.078227	0.51477	D	0.000089	D	0.97926	0.9318	N	0.14661	0.345	0.09310	N	1	P	0.42518	0.782	P	0.46885	0.53	D	0.97810	1.0250	10	0.17832	T	0.49	-23.5352	6.6584	0.23000	0.2166:0.0:0.7834:0.0	.	58	Q96A11	G3ST3_HUMAN	Q	58	ENSP00000308591:P58Q;ENSP00000434829:P58Q	ENSP00000308591:P58Q	P	-	2	0	GAL3ST3	65567677	0.450000	0.25697	0.015000	0.15790	0.470000	0.32858	1.347000	0.33975	0.523000	0.28482	-0.355000	0.07637	CCG		0.647	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		10	24	1	0	5.50884e-06	0.001368	6.74373e-06	10	24				
CD248	57124	broad.mit.edu	37	11	66084211	66084211	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:66084211C>A	ENST00000311330.3	-	1	304	c.288G>T	c.(286-288)ctG>ctT	p.L96L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	96	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.L96L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTGGGCGCTGCAGCTGGCATT	0.736																																							uc001ohm.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(3)	3						c.(286-288)CTG>CTT		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						18.0	19.0	19.0					11																	66084211		2067	4059	6126	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084211C>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.288G>T	11.37:g.66084211C>A							p.L96L	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	305	-			96			C-type lectin.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.288G>T	CCDS8134.1																																																																																				0.736	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		10	35	1	0	1.76689e-08	0.006214	2.4016e-08	10	35				
RIN1	9610	broad.mit.edu	37	11	66101539	66101539	+	Missense_Mutation	SNP	C	C	A	rs200117659		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:66101539C>A	ENST00000311320.4	-	7	1568	c.1442G>T	c.(1441-1443)gGg>gTg	p.G481V	RIN1_ENST00000530056.1_Intron|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.G376V	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	481	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G481V(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CAGGTGGGACCCGAAGGCTCC	0.736																																							uc001ohn.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(1441-1443)GGG>GTG		ras inhibitor RIN1							7.0	7.0	7.0					11																	66101539		2119	4181	6300	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66101539C>A	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1442G>T	11.37:g.66101539C>A	ENSP00000310406:p.Gly481Val					RIN1_uc010roy.1_Intron|RIN1_uc009yrd.1_Missense_Mutation_p.G174V|RIN1_uc010roz.1_Missense_Mutation_p.G376V|RIN1_uc010rpa.1_Intron	p.G481V	NM_004292	NP_004283	Q13671	RIN1_HUMAN			7	1569	-			481			VPS9.|Ras and 14-3-3 protein binding region.		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.1442G>T	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395512	0.25205	.	.	ENSG00000174791	ENST00000311320;ENST00000424433	T;T	0.37752	1.18;1.18	4.34	4.34	0.51931	Vacuolar sorting protein 9 (1);	0.058828	0.64402	D	0.000003	T	0.45518	0.1346	M	0.85197	2.74	0.43613	D	0.995985	B	0.28258	0.205	B	0.31547	0.132	T	0.54417	-0.8297	10	0.72032	D	0.01	-25.1117	12.6993	0.57022	0.0:1.0:0.0:0.0	.	481	Q13671	RIN1_HUMAN	V	481;376	ENSP00000310406:G481V;ENSP00000400560:G376V	ENSP00000310406:G481V	G	-	2	0	RIN1	65858115	0.040000	0.19996	0.078000	0.20375	0.254000	0.26022	1.530000	0.36007	2.141000	0.66446	0.455000	0.32223	GGG		0.736	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		5	8	1	0	8.12818e-05	0.001984	9.43997e-05	5	8				
CTSF	8722	broad.mit.edu	37	11	66335115	66335115	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:66335115G>C	ENST00000310325.5	-	3	440	c.331C>G	c.(331-333)Ctg>Gtg	p.L111V	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	111					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.L111V(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTCATCCAGGACTTGGAAG	0.612																																							uc001oip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(331-333)CTG>GTG		cathepsin F precursor							61.0	63.0	63.0					11																	66335115		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335115G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.331C>G	11.37:g.66335115G>C	ENSP00000310832:p.Leu111Val						p.L111V	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			3	421	-			111					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.331C>G	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686200	0.14973	.	.	ENSG00000174080	ENST00000310325;ENST00000526010	T;T	0.75821	-0.97;0.51	4.97	3.1	0.35709	.	0.656445	0.12903	N	0.429581	T	0.61311	0.2337	L	0.32530	0.975	0.25879	N	0.983614	P	0.43094	0.799	B	0.38378	0.272	T	0.51926	-0.8643	10	0.52906	T	0.07	.	8.0812	0.30746	0.1899:0.0:0.8101:0.0	.	111	Q9UBX1	CATF_HUMAN	V	111;19	ENSP00000310832:L111V;ENSP00000435822:L19V	ENSP00000310832:L111V	L	-	1	2	CTSF	66091691	0.965000	0.33210	0.179000	0.23059	0.003000	0.03518	0.514000	0.22786	0.615000	0.30124	0.462000	0.41574	CTG		0.612	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		13	103	0	0	0	0.00245	0	13	103				
SSH3	54961	broad.mit.edu	37	11	67077689	67077689	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:67077689C>T	ENST00000308127.4	+	13	1740	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	521					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A521V(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCCAGGCAGCCCCGAAAGAA	0.602																																							uc001okj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1561-1563)GCC>GTC		slingshot homolog 3							82.0	88.0	86.0					11																	67077689		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077689C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1562C>T	11.37:g.67077689C>T	ENSP00000312081:p.Ala521Val					SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.A375V	p.A521V	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1740	+			521					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1562C>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221405	0.39300	.	.	ENSG00000172830	ENST00000308127	T	0.03982	3.74	4.54	2.56	0.30785	.	0.638940	0.13030	N	0.419378	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.26809	0.16;0.099	B;B	0.31337	0.128;0.06	T	0.47724	-0.9095	10	0.18710	T	0.47	-2.875	6.7038	0.23240	0.0:0.7096:0.1853:0.1051	.	375;521	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	V	521	ENSP00000312081:A521V	ENSP00000312081:A521V	A	+	2	0	SSH3	66834265	0.000000	0.05858	0.806000	0.32338	0.710000	0.40934	0.515000	0.22801	1.018000	0.39521	0.555000	0.69702	GCC		0.602	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		27	111	0	0	0	0.005443	0	27	111				
PDE2A	5138	broad.mit.edu	37	11	72290403	72290403	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:72290403T>A	ENST00000334456.5	-	27	2526	c.2281A>T	c.(2281-2283)Atg>Ttg	p.M761L	PDE2A_ENST00000544570.1_Missense_Mutation_p.M754L|PDE2A_ENST00000376450.3_Missense_Mutation_p.M505L|PDE2A_ENST00000418754.2_Missense_Mutation_p.M646L|PDE2A_ENST00000444035.2_Missense_Mutation_p.M752L|PDE2A_ENST00000540345.1_Missense_Mutation_p.M752L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	761	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.M761L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	ATGTCCCGCATCAGATCCAGC	0.597																																							uc010rrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2281-2283)ATG>TTG		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						90.0	80.0	84.0					11																	72290403		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290403T>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2281A>T	11.37:g.72290403T>A	ENSP00000334910:p.Met761Leu					PDE2A_uc001oso.2_Missense_Mutation_p.M740L|PDE2A_uc010rra.1_Missense_Mutation_p.M754L|PDE2A_uc001osn.2_Missense_Mutation_p.M505L|PDE2A_uc010rrb.1_Missense_Mutation_p.M752L|PDE2A_uc010rrd.1_Missense_Mutation_p.M646L	p.M761L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2524	-			761			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2281A>T	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	T	9.889	1.203659	0.22121	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209	T;T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.37	5.37	0.77165	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.049318	0.85682	D	0.000000	T	0.62245	0.2412	N	0.10685	0.025	0.58432	D	0.999992	B;B;B;B;B;B	0.16802	0.001;0.007;0.007;0.019;0.007;0.006	B;B;B;B;B;B	0.20767	0.003;0.023;0.023;0.014;0.031;0.003	T	0.59182	-0.7502	10	0.08599	T	0.76	.	14.2174	0.65802	0.0:0.0:0.0:1.0	.	646;761;752;754;761;505	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	L	761;505;752;830;754;646;752;140;302	ENSP00000334910:M761L;ENSP00000365633:M505L;ENSP00000411657:M752L;ENSP00000442256:M754L;ENSP00000410310:M646L;ENSP00000446399:M752L;ENSP00000388997:M140L;ENSP00000392457:M302L	ENSP00000334910:M761L	M	-	1	0	PDE2A	71968051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.860000	0.86993	2.042000	0.60477	0.528000	0.53228	ATG		0.597	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		14	37	0	0	0	0.00245	0	14	37				
DDIAS	220042	broad.mit.edu	37	11	82643033	82643033	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:82643033A>G	ENST00000533655.1	+	6	865	c.653A>G	c.(652-654)tAt>tGt	p.Y218C	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.Y218C	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		218					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y218C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AGCAGCATATATACTTCTGAC	0.378																																							uc001ozt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(652-654)TAT>TGT		nitric oxide-inducible gene protein							90.0	93.0	92.0					11																	82643033		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643033A>G																												ENST00000533655.1:c.653A>G	11.37:g.82643033A>G	ENSP00000435421:p.Tyr218Cys					C11orf82_uc010rsr.1_Translation_Start_Site|C11orf82_uc010rss.1_Translation_Start_Site|C11orf82_uc009yvd.2_Intron	p.Y218C	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	897	+			218					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.653A>G	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	A	0.405	-0.916118	0.02415	.	.	ENSG00000165490	ENST00000430323;ENST00000533655	T;T	0.13901	2.55;2.55	5.33	-0.407	0.12385	.	1.060550	0.07348	N	0.881893	T	0.05364	0.0142	N	0.03177	-0.4	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.44711	-0.9310	9	.	.	.	.	6.2561	0.20874	0.4419:0.164:0.3941:0.0	.	218	Q8IXT1	NOXIN_HUMAN	C	218	ENSP00000414687:Y218C;ENSP00000435421:Y218C	.	Y	+	2	0	C11orf82	82320681	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.823000	0.04443	-0.406000	0.07588	-0.468000	0.05107	TAT		0.378	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			27	108	0	0	0	0.004656	0	27	108				
DLG2	1740	broad.mit.edu	37	11	83641482	83641482	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:83641482T>A	ENST00000532653.1	-	10	1372	c.1070A>T	c.(1069-1071)aAg>aTg	p.K357M	DLG2_ENST00000398301.2_Missense_Mutation_p.K396M|DLG2_ENST00000537455.1_Missense_Mutation_p.K111M|DLG2_ENST00000524982.1_Missense_Mutation_p.K357M|DLG2_ENST00000376106.3_De_novo_Start_InFrame|DLG2_ENST00000398309.2_Missense_Mutation_p.K357M|DLG2_ENST00000543673.1_Missense_Mutation_p.K462M|DLG2_ENST00000280241.8_Missense_Mutation_p.K396M|DLG2_ENST00000531015.1_Missense_Mutation_p.K324M|DLG2_ENST00000330014.6_Missense_Mutation_p.K296M|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.K462M			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.K357M(1)|p.K462M(1)|p.K396M(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGAAGCAGGCTTATCACATAG	0.488																																							uc001paj.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|skin(1)	6						c.(1069-1071)AAG>ATG		chapsyn-110 isoform 2							167.0	171.0	170.0					11																	83641482		2009	4193	6202	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83641482T>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1070A>T	11.37:g.83641482T>A	ENSP00000435849:p.Lys357Met					DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.K324M|DLG2_uc010rsz.1_Missense_Mutation_p.K357M|DLG2_uc010rta.1_Missense_Mutation_p.K357M|DLG2_uc001pak.2_Missense_Mutation_p.K462M|DLG2_uc010rtb.1_Missense_Mutation_p.K324M|DLG2_uc001pal.1_Missense_Mutation_p.K357M|DLG2_uc001pam.1_Missense_Mutation_p.K396M	p.K357M	NM_001364	NP_001355	Q15700	DLG2_HUMAN			10	1373	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	357					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1070A>T		.	.	.	.	.	.	.	.	.	.	T	18.01	3.528244	0.64860	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.20881	2.57;2.57;2.57;2.53;2.49;2.34;2.58;2.53;2.37;2.04	5.99	5.99	0.97316	.	0.182212	0.34268	N	0.004118	T	0.28001	0.0690	N	0.19112	0.55	0.80722	D	1	D;P;P;D;D;D;P	0.59357	0.971;0.948;0.948;0.971;0.985;0.983;0.948	P;P;P;P;P;P;P	0.58873	0.707;0.62;0.62;0.62;0.555;0.847;0.62	T	0.03202	-1.1061	9	.	.	.	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	324;357;357;296;396;462;357	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	M	357;462;462;396;296;111;357;357;462;324;396	ENSP00000381355:K357M;ENSP00000365272:K462M;ENSP00000441994:K462M;ENSP00000280241:K396M;ENSP00000381353:K296M;ENSP00000443248:K111M;ENSP00000432894:K357M;ENSP00000435849:K357M;ENSP00000433848:K324M;ENSP00000381346:K396M	.	K	-	2	0	DLG2	83319130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.571000	0.67404	2.291000	0.77112	0.533000	0.62120	AAG		0.488	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		21	130	0	0	0	0.005443	0	21	130				
DLG2	1740	broad.mit.edu	37	11	84245776	84245776	+	Splice_Site	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:84245776T>C	ENST00000532653.1	-	2	345		c.e2-2		DLG2_ENST00000524982.1_Splice_Site|DLG2_ENST00000398309.2_Splice_Site|DLG2_ENST00000543673.1_Splice_Site|DLG2_ENST00000376104.2_Splice_Site			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCGATACTTCTAGGAGAAAAG	0.393																																							uc001paj.2		NA																	2	Unknown(2)		lung(2)	ovary(3)|pancreas(2)|skin(1)	6						c.e2-1		chapsyn-110 isoform 2							161.0	152.0	155.0					11																	84245776		1884	4109	5993	SO:0001630	splice_region_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:84245776T>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.43-2A>G	11.37:g.84245776T>C						DLG2_uc010rsz.1_Splice_Site_p.K15_splice|DLG2_uc010rta.1_Splice_Site_p.K15_splice|DLG2_uc001pak.2_Splice_Site_p.K120_splice|DLG2_uc001pal.1_Splice_Site_p.K15_splice	p.K15_splice	NM_001364	NP_001355	Q15700	DLG2_HUMAN			2	346	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)						B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Splice_Site	SNP	ENST00000532653.1	37	c.43_splice		.	.	.	.	.	.	.	.	.	.	T	26.3	4.724369	0.89298	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2879	0.82732	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG2	83923424	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.677000	0.61634	2.242000	0.73789	0.533000	0.62120	.		0.393	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	Intron	16	205	0	0	0	0.006122	0	16	205				
EED	8726	broad.mit.edu	37	11	85963272	85963272	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:85963272G>T	ENST00000263360.6	+	3	1036	c.350G>T	c.(349-351)gGa>gTa	p.G117V	EED_ENST00000351625.6_Missense_Mutation_p.G117V|EED_ENST00000327320.4_Missense_Mutation_p.G117V|EED_ENST00000528180.1_Missense_Mutation_p.G117V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	117	Interaction with EZH2. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.G117V(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GCAACTGTAGGAAGCAACAGA	0.338																																							uc001pbp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(349-351)GGA>GTA		embryonic ectoderm development isoform a							118.0	123.0	121.0					11																	85963272		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85963272G>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.350G>T	11.37:g.85963272G>T	ENSP00000263360:p.Gly117Val					EED_uc010rtm.1_Missense_Mutation_p.G117V|EED_uc001pbq.2_Missense_Mutation_p.G117V|EED_uc001pbr.2_Missense_Mutation_p.G117V|EED_uc001pbs.2_Missense_Mutation_p.G117V	p.G117V	NM_003797	NP_003788	O75530	EED_HUMAN			3	807	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	117			Interaction with EZH2 (By similarity).|WD 1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.350G>T	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709522	0.89018	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.111780	0.64402	D	0.000013	T	0.65698	0.2716	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.993;0.998	D;D;D;D	0.83275	0.977;0.996;0.981;0.96	T	0.67284	-0.5709	9	.	.	.	-10.6342	19.6891	0.95991	0.0:0.0:1.0:0.0	.	117;117;117;117	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	V	117	ENSP00000263360:G117V;ENSP00000431778:G117V;ENSP00000338186:G117V;ENSP00000315587:G117V	.	G	+	2	0	EED	85640920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.687000	0.98667	2.706000	0.92434	0.655000	0.94253	GGA		0.338	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		5	65	1	0	0.000602214	0.000602	0.000674971	5	65				
EED	8726	broad.mit.edu	37	11	85979601	85979601	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:85979601A>G	ENST00000263360.6	+	9	1650	c.964A>G	c.(964-966)Aag>Gag	p.K322E	EED_ENST00000351625.6_Missense_Mutation_p.K322E|EED_ENST00000327320.4_Missense_Mutation_p.K322E|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	322	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.K322E(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GATACTTTCTAAGGTATGGTA	0.408																																							uc001pbp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(964-966)AAG>GAG		embryonic ectoderm development isoform a							238.0	214.0	222.0					11																	85979601		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85979601A>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.964A>G	11.37:g.85979601A>G	ENSP00000263360:p.Lys322Glu					EED_uc010rtm.1_Missense_Mutation_p.K322E|EED_uc001pbq.2_Missense_Mutation_p.K322E|EED_uc001pbr.2_Missense_Mutation_p.K322E|EED_uc001pbs.2_Intron|EED_uc010rtn.1_Intron	p.K322E	NM_003797	NP_003788	O75530	EED_HUMAN			9	1421	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	322			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 5.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.964A>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	33	5.226646	0.95173	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000534564	T;T;T	0.28666	1.6;1.6;1.6	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.73366	-0.4005	9	.	.	.	-13.1853	15.7397	0.77882	1.0:0.0:0.0:0.0	.	322;322;322	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	E	322;322;322;71	ENSP00000263360:K322E;ENSP00000338186:K322E;ENSP00000315587:K322E	.	K	+	1	0	EED	85657249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.144000	0.94629	2.180000	0.69256	0.383000	0.25322	AAG		0.408	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		20	94	0	0	0	0.001882	0	20	94				
PRSS23	11098	broad.mit.edu	37	11	86519409	86519409	+	Missense_Mutation	SNP	G	G	T	rs575736317		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:86519409G>T	ENST00000280258.5	+	2	1149	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.G210C	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	242						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.G242C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGACATCGGCATGGATTA	0.522																																							uc001pcb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(724-726)GGC>TGC		protease, serine, 23 precursor							45.0	45.0	45.0					11																	86519409		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519409G>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.724G>T	11.37:g.86519409G>T	ENSP00000280258:p.Gly242Cys					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.G210C	p.G242C	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	940	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	242					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.724G>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824428	0.71143	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	.	.	.	6.06	6.06	0.98353	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.048281	0.85682	D	0.000000	T	0.74921	0.3780	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69950	-0.5006	8	.	.	.	-24.4604	20.6282	0.99521	0.0:0.0:1.0:0.0	.	210;242	B4E2J3;O95084	.;PRS23_HUMAN	C	242;210	.	.	G	+	1	0	PRSS23	86197057	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	6.252000	0.72447	2.871000	0.98454	0.655000	0.94253	GGC		0.522	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		12	51	1	0	1.5842e-08	0.001855	2.18022e-08	12	51				
TYR	7299	broad.mit.edu	37	11	89018021	89018021	+	Missense_Mutation	SNP	G	G	T	rs61754393		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:89018021G>T	ENST00000263321.5	+	4	1767	c.1265G>T	c.(1264-1266)cGg>cTg	p.R422L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	422			R -> Q (in OCA1A and OCA1B; temperature sensitive variant). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:15146472, ECO:0000269|PubMed:1900309}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R422L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GGACATAACCGGGAATCCTAC	0.413																																							uc001pcs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3	GRCh37	CM910387	TYR	M	rs61754393	c.(1264-1266)CGG>CTG		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						71.0	73.0	72.0					11																	89018021		2201	4297	6498	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89018021G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1265G>T	11.37:g.89018021G>T	ENSP00000263321:p.Arg422Leu						p.R422L	NM_000372	NP_000363	P14679	TYRO_HUMAN			4	1347	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	422		R -> Q (in OCA1A and OCA1B; temperature sensitive variant).	Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1265G>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373494	0.61624	.	.	ENSG00000077498	ENST00000263321	D	0.98684	-5.07	4.68	4.68	0.58851	Uncharacterised domain, di-copper centre (2);	0.281597	0.34555	N	0.003864	D	0.98868	0.9617	M	0.68593	2.085	0.42549	D	0.993107	D	0.69078	0.997	D	0.76071	0.987	D	0.99841	1.1062	9	.	.	.	.	17.6247	0.88091	0.0:0.0:1.0:0.0	.	422	P14679	TYRO_HUMAN	L	422	ENSP00000263321:R422L	.	R	+	2	0	TYR	88657669	1.000000	0.71417	0.980000	0.43619	0.918000	0.54935	2.980000	0.49321	2.166000	0.68216	0.555000	0.69702	CGG		0.413	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		28	95	1	0	8.58068e-18	0.007291	1.45212e-17	28	95				
FOLH1B	219595	broad.mit.edu	37	11	89420530	89420530	+	RNA	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:89420530G>A	ENST00000532352.1	+	0	1345							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.E178K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGCCCTGATGAAGGCTTTGA	0.343																																							uc001pda.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(532-534)GAA>AAA		folate hydrolase 1B							37.0	39.0	38.0					11																	89420530		2199	4278	6477			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89420530G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89420530G>A							p.E178K	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			9	1058	+			178						Missense_Mutation	SNP	ENST00000532352.1	37	c.532G>A																																																																																					0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		5	90	0	0	0	0.000602	0	5	90				
TRIM49C	642612	broad.mit.edu	37	11	89774530	89774530	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:89774530C>G	ENST00000448984.1	+	8	1500	c.1171C>G	c.(1171-1173)Ctc>Gtc	p.L391V	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	391	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L391V(2)		endometrium(3)|kidney(1)|lung(4)	8						TCAATGCAGTCTCTTTACCAC	0.418																																							uc010rua.1		NA																	2	Substitution - Missense(2)		lung(2)		NA						c.(1171-1173)CTC>GTC		ring finger protein 18																																				SO:0001583	missense	0							g.chr11:89774530C>G	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1171C>G	11.37:g.89774530C>G	ENSP00000388299:p.Leu391Val						p.L391V	NM_020358	NP_065091					7	1294	+								A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.1171C>G	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	C	8.681	0.905131	0.17760	.	.	ENSG00000204449	ENST00000448984	T	0.68025	-0.3	0.762	0.762	0.18454	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.71213	0.3313	L	0.49571	1.57	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.56511	-0.7967	8	.	.	.	.	4.8674	0.13615	0.0:1.0:0.0:0.0	.	391	P0CI26	T49L2_HUMAN	V	391	ENSP00000388299:L391V	.	L	+	1	0	TRIM49L2	89414178	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	-0.110000	0.10824	0.710000	0.31997	0.298000	0.19748	CTC		0.418	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		9	111	0	0	0	0.000978	0	9	111				
FAT3	120114	broad.mit.edu	37	11	92534273	92534273	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:92534273C>A	ENST00000298047.6	+	9	8111	c.8094C>A	c.(8092-8094)gtC>gtA	p.V2698V	FAT3_ENST00000525166.1_Silent_p.V2548V|FAT3_ENST00000409404.2_Silent_p.V2698V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2698	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2698V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATATCCACGTCTTGCCCCCTG	0.463										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8092-8094)GTC>GTA		FAT tumor suppressor homolog 3							70.0	67.0	68.0					11																	92534273		1957	4150	6107	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534273C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8094C>A	11.37:g.92534273C>A		TCGA Ovarian(4;0.039)					p.V2698V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8111	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2698			Cadherin 24.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8094C>A																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	55	1	0	1.99824e-07	0.00499	2.59686e-07	17	55				
GPR83	10888	broad.mit.edu	37	11	94134282	94134282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:94134282C>A	ENST00000243673.2	-	1	303	c.132G>T	c.(130-132)tgG>tgT	p.W44C	GPR83_ENST00000539203.2_Missense_Mutation_p.W44C	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	44					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.W44C(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTAGTTGTTCCAAGAGAAGA	0.652																																							uc001pet.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(130-132)TGG>TGT		G protein-coupled receptor 83 precursor							63.0	67.0	66.0					11																	94134282		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134282C>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.132G>T	11.37:g.94134282C>A	ENSP00000243673:p.Trp44Cys						p.W44C	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			1	304	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	44			Extracellular (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.132G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449996	0.63290	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.61980	0.1;0.06	4.68	4.68	0.58851	.	0.145317	0.49305	D	0.000157	T	0.71837	0.3387	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.57324	0.818	T	0.74441	-0.3664	10	0.51188	T	0.08	.	16.5734	0.84631	0.0:1.0:0.0:0.0	.	44	Q9NYM4	GPR83_HUMAN	C	44	ENSP00000243673:W44C;ENSP00000441550:W44C	ENSP00000243673:W44C	W	-	3	0	GPR83	93773930	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	3.742000	0.55097	2.162000	0.67917	0.462000	0.41574	TGG		0.652	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		11	59	1	0	0.000978159	0.000978	0.00108999	11	59				
KDM4D	55693	broad.mit.edu	37	11	94731487	94731487	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:94731487G>T	ENST00000335080.5	+	3	1783	c.951G>T	c.(949-951)gtG>gtT	p.V317V	KDM4D_ENST00000536741.1_Silent_p.V317V	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	317					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.V317V(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGCAAGGGTGACCTTTTCCA	0.552																																							uc001pfe.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(949-951)GTG>GTT		jumonji domain containing 2D							76.0	77.0	77.0					11																	94731487		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731487G>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.951G>T	11.37:g.94731487G>T							p.V317V	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1783	+			317					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.951G>T	CCDS8302.1																																																																																				0.552	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		17	79	1	0	3.45872e-05	0.004007	4.11307e-05	17	79				
KDM4E	390245	broad.mit.edu	37	11	94759373	94759373	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:94759373C>G	ENST00000450979.2	+	1	952	c.652C>G	c.(652-654)Cag>Gag	p.Q218E		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	218	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.Q218E(2)		breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AGAACATGGTCAGCACCTGGA	0.577																																							uc010ruf.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(652-654)CAG>GAG		lysine (K)-specific demethylase 4D-like							66.0	60.0	62.0					11																	94759373		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759373C>G	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.652C>G	11.37:g.94759373C>G	ENSP00000397239:p.Gln218Glu						p.Q218E	NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN			1	952	+			218			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.652C>G	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	1.099	-0.661642	0.03454	.	.	ENSG00000235268	ENST00000450979	T	0.68624	-0.34	2.84	1.84	0.25277	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	T	0.28566	0.0707	N	0.02011	-0.69	0.09310	N	1	P	0.39404	0.672	B	0.31547	0.132	T	0.24941	-1.0146	9	0.06494	T	0.89	-2.4883	7.0322	0.24972	0.2865:0.7135:0.0:0.0	.	218	B2RXH2	KD4DL_HUMAN	E	218	ENSP00000397239:Q218E	ENSP00000397239:Q218E	Q	+	1	0	KDM4DL	94399021	0.000000	0.05858	0.013000	0.15412	0.015000	0.08874	-0.172000	0.09868	0.418000	0.25898	0.455000	0.32223	CAG		0.577	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		19	63	0	0	0	0.007413	0	19	63				
DYNC2H1	79659	broad.mit.edu	37	11	103039571	103039571	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103039571A>T	ENST00000375735.2	+	32	4994	c.4850A>T	c.(4849-4851)cAg>cTg	p.Q1617L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q1617L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1617	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AACCAAATTCAGGTTCATACA	0.353																																							uc001pho.2		NA																	0					0						c.(4849-4851)CAG>CTG		dynein, cytoplasmic 2, heavy chain 1							94.0	90.0	91.0					11																	103039571		1829	4077	5906	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103039571A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4850A>T	11.37:g.103039571A>T	ENSP00000364887:p.Gln1617Leu					DYNC2H1_uc001phn.1_Missense_Mutation_p.Q1617L|DYNC2H1_uc009yxe.1_Intron	p.Q1617L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	32	4994	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1617			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.4850A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469146	0.43839	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.28255	1.62;1.62	6.05	4.93	0.64822	.	.	.	.	.	T	0.35885	0.0947	M	0.76002	2.32	0.39629	D	0.97014	B;P	0.36909	0.243;0.573	B;B	0.37144	0.063;0.242	T	0.27226	-1.0080	9	0.49607	T	0.09	.	12.091	0.53726	0.9334:0.0:0.0666:0.0	.	1617;1617	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	1617	ENSP00000364887:Q1617L;ENSP00000381167:Q1617L	ENSP00000364887:Q1617L	Q	+	2	0	DYNC2H1	102544781	1.000000	0.71417	0.947000	0.38551	0.633000	0.38033	6.963000	0.76055	1.113000	0.41760	0.528000	0.53228	CAG		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	72	0	0	0	0.001984	0	7	72				
DYNC2H1	79659	broad.mit.edu	37	11	103182692	103182692	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103182692G>C	ENST00000375735.2	+	79	11723	c.11579G>C	c.(11578-11580)cGa>cCa	p.R3860P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3867P|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3860	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R1300Q(3)|p.R1300P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATACACATCGAGCTCATGCT	0.358																																							uc001pho.2		NA																	4	Substitution - Missense(4)	p.R1300Q(3)	breast(3)|lung(1)		0						c.(11578-11580)CGA>CCA		dynein, cytoplasmic 2, heavy chain 1							114.0	111.0	112.0					11																	103182692		1852	4097	5949	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103182692G>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11579G>C	11.37:g.103182692G>C	ENSP00000364887:p.Arg3860Pro					DYNC2H1_uc001phn.1_Missense_Mutation_p.R3867P|DYNC2H1_uc009yxe.1_Intron	p.R3860P	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	79	11723	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3860			AAA 6 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11579G>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658542	0.88154	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.09538	2.97;2.97	4.69	4.69	0.59074	Dynein heavy chain (1);	0.000000	0.64402	D	0.000002	T	0.29783	0.0744	M	0.72353	2.195	0.80722	D	1	D;D	0.62365	0.991;0.988	P;P	0.60068	0.868;0.861	T	0.03287	-1.1052	10	0.48119	T	0.1	.	17.62	0.88078	0.0:0.0:1.0:0.0	.	3860;3867	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	P	3860;3867;106	ENSP00000364887:R3860P;ENSP00000381167:R3867P	ENSP00000364887:R3860P	R	+	2	0	DYNC2H1	102687902	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.195000	0.94971	2.147000	0.66899	0.555000	0.69702	CGA		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		22	118	0	0	0	0.001882	0	22	118				
DYNC2H1	79659	broad.mit.edu	37	11	103182715	103182715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103182715G>T	ENST00000375735.2	+	79	11746	c.11602G>T	c.(11602-11604)Gca>Tca	p.A3868S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3875S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3868	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A1308S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTCAGTCTTGCATGGTTTCA	0.338																																							uc001pho.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(11602-11604)GCA>TCA		dynein, cytoplasmic 2, heavy chain 1							123.0	120.0	121.0					11																	103182715		1844	4100	5944	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103182715G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11602G>T	11.37:g.103182715G>T	ENSP00000364887:p.Ala3868Ser					DYNC2H1_uc001phn.1_Missense_Mutation_p.A3875S|DYNC2H1_uc009yxe.1_Intron	p.A3868S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	79	11746	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3868			AAA 6 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11602G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831141	0.91036	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.10099	2.91;2.91	4.94	4.94	0.65067	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.60012	1.86	0.80722	D	1	P;P	0.52061	0.678;0.95	P;P	0.55824	0.785;0.775	T	0.00664	-1.1620	10	0.48119	T	0.1	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	3868;3875	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	3868;3875;114	ENSP00000364887:A3868S;ENSP00000381167:A3875S	ENSP00000364887:A3868S	A	+	1	0	DYNC2H1	102687925	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.195000	0.94971	2.264000	0.75181	0.555000	0.69702	GCA		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		29	134	1	0	2.85442e-18	0.002096	4.84653e-18	29	134				
DYNC2H1	79659	broad.mit.edu	37	11	103270477	103270477	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103270477T>G	ENST00000375735.2	+	84	12387	c.12243T>G	c.(12241-12243)ttT>ttG	p.F4081L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F4088L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4081					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F1521L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGAACAATTTAATGCTATTC	0.373																																							uc001pho.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(12241-12243)TTT>TTG		dynein, cytoplasmic 2, heavy chain 1							90.0	86.0	87.0					11																	103270477		1892	4105	5997	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103270477T>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12243T>G	11.37:g.103270477T>G	ENSP00000364887:p.Phe4081Leu					DYNC2H1_uc001phn.1_Missense_Mutation_p.F4088L|DYNC2H1_uc009yxe.1_Intron	p.F4081L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	84	12387	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	4081					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.12243T>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797164	0.31777	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.08008	3.14;3.14	5.78	2.45	0.29901	Dynein heavy chain (1);	0.109634	0.64402	N	0.000006	T	0.07007	0.0178	L	0.41710	1.295	0.52501	D	0.999953	B;B	0.15141	0.012;0.01	B;B	0.25987	0.065;0.039	T	0.30001	-0.9993	10	0.10902	T	0.67	.	8.7696	0.34724	0.0:0.7376:0.0:0.2624	.	4081;4088	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	L	4081;4088;327	ENSP00000364887:F4081L;ENSP00000381167:F4088L	ENSP00000364887:F4081L	F	+	3	2	DYNC2H1	102775687	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	0.650000	0.24858	0.132000	0.18615	0.455000	0.32223	TTT		0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		20	59	0	0	0	0.001882	0	20	59				
PDGFD	80310	broad.mit.edu	37	11	103780531	103780531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:103780531G>T	ENST00000393158.2	-	7	1183	c.1004C>A	c.(1003-1005)cCt>cAt	p.P335H	PDGFD_ENST00000302251.5_Missense_Mutation_p.P329H			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	335					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.P335H(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GATGTGGCCAGGCTCAAACTG	0.453																																							uc001phq.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1003-1005)CCT>CAT		platelet derived growth factor D isoform 1							262.0	219.0	233.0					11																	103780531		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780531G>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1004C>A	11.37:g.103780531G>T	ENSP00000376865:p.Pro335His					PDGFD_uc001php.2_Missense_Mutation_p.P329H	p.P335H	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	7	1376	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	335					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.1004C>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322209	0.60634	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.33216	1.42;1.43	5.91	5.91	0.95273	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	L	0.49126	1.545	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.91635	0.947;0.999	T	0.44174	-0.9345	10	0.51188	T	0.08	-14.778	20.3057	0.98631	0.0:0.0:1.0:0.0	.	335;329	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	H	335;329	ENSP00000376865:P335H;ENSP00000302193:P329H	ENSP00000302193:P329H	P	-	2	0	PDGFD	103285741	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.446000	0.66600	2.791000	0.96007	0.655000	0.94253	CCT		0.453	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		41	137	1	0	1.76056e-25	0.002852	3.17106e-25	41	137				
CWF19L2	143884	broad.mit.edu	37	11	107224348	107224348	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:107224348C>A	ENST00000282251.5	-	13	2014	c.1987G>T	c.(1987-1989)Gct>Tct	p.A663S	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A663S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	663							catalytic activity (GO:0003824)	p.A663S(1)|p.A509S(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CGATGCTCAGCAATAGCTTTT	0.418																																							uc010rvp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1987-1989)GCT>TCT		CWF19-like 2, cell cycle control							128.0	122.0	124.0					11																	107224348		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107224348C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1987G>T	11.37:g.107224348C>A	ENSP00000282251:p.Ala663Ser					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.A663S	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	13	2017	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	663			Potential.		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1987G>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	2.649	-0.282342	0.05642	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.17691	2.93;2.26	5.95	3.93	0.45458	Histidine triad-like motif (1);	0.543386	0.21698	N	0.070466	T	0.11707	0.0285	L	0.37507	1.11	0.18873	N	0.999989	B	0.16166	0.016	B	0.25405	0.06	T	0.35001	-0.9806	10	0.07990	T	0.79	-13.3416	7.7446	0.28862	0.3314:0.431:0.2375:0.0	.	663	Q2TBE0	C19L2_HUMAN	S	663	ENSP00000282251:A663S;ENSP00000387533:A663S	ENSP00000282251:A663S	A	-	1	0	CWF19L2	106729558	0.953000	0.32496	0.999000	0.59377	0.208000	0.24298	1.249000	0.32839	1.514000	0.48869	0.655000	0.94253	GCT		0.418	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		39	73	1	0	1.30998e-17	0.005524	2.20961e-17	39	73				
CWF19L2	143884	broad.mit.edu	37	11	107299594	107299594	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:107299594T>A	ENST00000282251.5	-	8	1391	c.1364A>T	c.(1363-1365)cAa>cTa	p.Q455L	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q455L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	455							catalytic activity (GO:0003824)	p.Q301L(1)|p.Q455L(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GACTTCATCTTGTGATTTTTC	0.373																																							uc010rvp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1363-1365)CAA>CTA		CWF19-like 2, cell cycle control							217.0	215.0	216.0					11																	107299594		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107299594T>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1364A>T	11.37:g.107299594T>A	ENSP00000282251:p.Gln455Leu					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.Q455L	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	1394	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	455					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1364A>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687172	0.29962	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.18502	2.91;2.21	5.39	-1.75	0.08031	.	0.729810	0.13506	N	0.382844	T	0.14184	0.0343	M	0.62723	1.935	0.09310	N	1	B	0.18461	0.028	B	0.15484	0.013	T	0.27773	-1.0064	10	0.27785	T	0.31	0.0022	5.7028	0.17891	0.0:0.2419:0.4113:0.3468	.	455	Q2TBE0	C19L2_HUMAN	L	455	ENSP00000282251:Q455L;ENSP00000387533:Q455L	ENSP00000282251:Q455L	Q	-	2	0	CWF19L2	106804804	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.431000	0.06965	-0.496000	0.06650	-0.376000	0.06991	CAA		0.373	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		34	329	0	0	0	0.002445	0	34	329				
BCO2	83875	broad.mit.edu	37	11	112084521	112084521	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:112084521G>T	ENST00000357685.5	+	9	1404	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	BCO2_ENST00000532593.1_Missense_Mutation_p.E318D|BCO2_ENST00000393032.2_Missense_Mutation_p.E389D|BCO2_ENST00000438022.1_Missense_Mutation_p.E389D|BCO2_ENST00000361053.4_Missense_Mutation_p.E350D|BCO2_ENST00000526088.1_Missense_Mutation_p.E389D|BCO2_ENST00000531169.1_Missense_Mutation_p.E389D			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	423					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.E423D(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATGCCCCTGAGGGAGACAACC	0.433																																					GBM(177;1916 2099 21049 29541 39946)	GBM(177;1916 2099 21049 29541 39946)	uc001pnf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1267-1269)GAG>GAT		beta-carotene dioxygenase 2 isoform a							190.0	184.0	186.0					11																	112084521		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112084521G>T	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1269G>T	11.37:g.112084521G>T	ENSP00000350314:p.Glu423Asp					BCO2_uc001pne.1_Missense_Mutation_p.E250D|BCO2_uc001png.2_Missense_Mutation_p.E350D|BCO2_uc001pnh.2_Missense_Mutation_p.E389D|BCO2_uc010rwt.1_Missense_Mutation_p.E318D|BCO2_uc009yyn.2_Missense_Mutation_p.E389D|BCO2_uc001pni.2_Missense_Mutation_p.E389D	p.E423D	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN			9	1386	+			423					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.1269G>T	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.925|6.925	0.540412|0.540412	0.13250|0.13250	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|.	0.94862|.	-3.53;-3.52;-3.51;-3.52;-3.54;-3.38;-3.52|.	5.51|5.51	-1.73|-1.73	0.08081|0.08081	.|.	0.615841|.	0.18641|.	N|.	0.135295|.	T|T	0.32071|0.32071	0.0817|0.0817	L|L	0.31420|0.31420	0.93|0.93	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33777|.	0.001;0.425;0.001;0.004|.	B;B;B;B|.	0.36808|.	0.004;0.233;0.012;0.026|.	T|T	0.31558|0.31558	-0.9939|-0.9939	10|5	0.13470|.	T|.	0.59|.	-15.2465|-15.2465	11.0795|11.0795	0.48051|0.48051	0.4093:0.0:0.5907:0.0|0.4093:0.0:0.5907:0.0	.|.	400;350;423;250|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	D|W	423;389;350;389;389;318;389|191	ENSP00000350314:E423D;ENSP00000376752:E389D;ENSP00000354338:E350D;ENSP00000414843:E389D;ENSP00000436615:E389D;ENSP00000431802:E318D;ENSP00000437053:E389D|.	ENSP00000350314:E423D|.	E|G	+|+	3|1	2|0	BCO2|BCO2	111589731|111589731	0.000000|0.000000	0.05858|0.05858	0.089000|0.089000	0.20774|0.20774	0.912000|0.912000	0.54170|0.54170	-0.421000|-0.421000	0.07053|0.07053	-0.668000|-0.668000	0.05296|0.05296	-0.225000|-0.225000	0.12378|0.12378	GAG|GGG		0.433	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		60	144	1	0	2.69953e-25	0.00361	4.85664e-25	60	144				
TTC12	54970	broad.mit.edu	37	11	113195353	113195353	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:113195353G>T	ENST00000529221.1	+	5	376	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	TTC12_ENST00000393020.1_Missense_Mutation_p.D91Y|TTC12_ENST00000314756.3_Missense_Mutation_p.D91Y|TTC12_ENST00000483239.2_Missense_Mutation_p.D91Y	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	91								p.D91Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTGGAGAAGGATGCAAAGGA	0.398																																							uc001pnu.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(271-273)GAT>TAT		tetratricopeptide repeat domain 12							137.0	130.0	132.0					11																	113195353		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113195353G>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.271G>T	11.37:g.113195353G>T	ENSP00000433757:p.Asp91Tyr					TTC12_uc001pnv.2_Missense_Mutation_p.D91Y|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_5'UTR	p.D91Y	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	5	376	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	91					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.271G>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221491	0.79464	.	.	ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239	T;T;T;T;T;T;T;T;T;T	0.71698	2.08;-0.59;1.13;1.26;0.58;2.06;0.6;2.07;1.17;2.07	5.08	5.08	0.68730	Armadillo-type fold (1);	0.000000	0.52532	U	0.000079	D	0.86301	0.5900	M	0.87758	2.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88533	0.3104	10	0.87932	D	0	-21.9686	17.4038	0.87468	0.0:0.0:1.0:0.0	.	91;91	A8K8G6;Q9H892	.;TTC12_HUMAN	Y	91;91;91;66;91;91;91;91;91;91	ENSP00000433757:D91Y;ENSP00000413335:D91Y;ENSP00000400039:D91Y;ENSP00000433916:D66Y;ENSP00000431806:D91Y;ENSP00000315160:D91Y;ENSP00000435308:D91Y;ENSP00000376743:D91Y;ENSP00000402004:D91Y;ENSP00000419652:D91Y	ENSP00000315160:D91Y	D	+	1	0	TTC12	112700563	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.420000	0.73349	2.652000	0.90054	0.563000	0.77884	GAT		0.398	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		8	43	1	0	1.06961e-07	0.00308	1.40907e-07	8	43				
ZW10	9183	broad.mit.edu	37	11	113608401	113608401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:113608401C>A	ENST00000200135.3	-	14	2053	c.1909G>T	c.(1909-1911)Gga>Tga	p.G637*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	637					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.G637*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CACACAATTCCAAGTCTCTTT	0.383																																							uc001poe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1909-1911)GGA>TGA		centromere/kinetochore protein zw10							134.0	124.0	128.0					11																	113608401		2201	4296	6497	SO:0001587	stop_gained	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113608401C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1909G>T	11.37:g.113608401C>A	ENSP00000200135:p.Gly637*					ZW10_uc009yyv.2_RNA	p.G637*	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	14	1946	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	637					A1A528	Nonsense_Mutation	SNP	ENST00000200135.3	37	c.1909G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	38	7.059250	0.98036	.	.	ENSG00000086827	ENST00000200135	.	.	.	5.27	5.27	0.74061	.	0.097993	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-19.3121	19.2588	0.93959	0.0:1.0:0.0:0.0	.	.	.	.	X	637	.	ENSP00000200135:G637X	G	-	1	0	ZW10	113113611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.619000	0.88677	0.655000	0.94253	GGA		0.383	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		29	119	1	0	1.16021e-09	0.007291	1.64827e-09	29	119				
HTR3B	9177	broad.mit.edu	37	11	113803681	113803681	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:113803681C>T	ENST00000260191.2	+	6	819	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	HTR3B_ENST00000537778.1_Silent_p.L177L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	188					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.L188L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CCTGGCCTTTCTGAGGAGCCC	0.468																																							uc001pok.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)CTG>TTG		5-hydroxytryptamine (serotonin) receptor 3B							134.0	122.0	126.0					11																	113803681		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113803681C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.562C>T	11.37:g.113803681C>T						HTR3B_uc001pol.2_Silent_p.L177L	p.L188L	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	6	629	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	188			Extracellular (Potential).		B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.562C>T	CCDS8364.1																																																																																				0.468	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		21	76	0	0	0	0.00278	0	21	76				
APOC3	345	broad.mit.edu	37	11	116701533	116701533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:116701533G>T	ENST00000227667.3	+	3	162	c.100G>T	c.(100-102)Ggt>Tgt	p.G34C	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000375345.1_Missense_Mutation_p.G52C	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	34					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)	p.G34C(1)		endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTTCATGCAGGGTTACATGAA	0.642																																					GBM(81;259 1650 7161 35190)	GBM(81;259 1650 7161 35190)	uc001ppt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(100-102)GGT>TGT		apolipoprotein C-III precursor							51.0	45.0	47.0					11																	116701533		2201	4296	6497	SO:0001583	missense	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116701533G>T	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.100G>T	11.37:g.116701533G>T	ENSP00000227667:p.Gly34Cys						p.G34C	NM_000040	NP_000031	P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	146	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	34					Q08E83|Q6Q786	Missense_Mutation	SNP	ENST00000227667.3	37	c.100G>T	CCDS8377.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671480	0.67814	.	.	ENSG00000110245	ENST00000433777;ENST00000227667;ENST00000375345	D;D;D	0.88818	-2.43;-2.43;-2.43	4.95	4.95	0.65309	.	0.801600	0.10480	N	0.669670	D	0.93318	0.7870	.	.	.	0.33538	D	0.594554	D	0.60575	0.988	P	0.59948	0.866	D	0.93434	0.6788	9	0.72032	D	0.01	-3.2439	14.8908	0.70606	0.0:0.0:1.0:0.0	.	34	P02656	APOC3_HUMAN	C	34;34;52	ENSP00000410614:G34C;ENSP00000227667:G34C;ENSP00000364494:G52C	ENSP00000227667:G34C	G	+	1	0	APOC3	116206743	0.995000	0.38212	0.778000	0.31720	0.043000	0.13939	3.719000	0.54926	2.263000	0.75096	0.561000	0.74099	GGT		0.642	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		9	43	1	0	1.76689e-08	0.006214	2.4016e-08	9	43				
SIDT2	51092	broad.mit.edu	37	11	117058097	117058097	+	Missense_Mutation	SNP	A	A	T	rs375965724		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:117058097A>T	ENST00000324225.4	+	11	1550	c.1019A>T	c.(1018-1020)cAc>cTc	p.H340L	SIDT2_ENST00000431081.2_Missense_Mutation_p.H344L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	340					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.H340L(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATTGCAGGTCACCCTCGAGTC	0.527																																							uc001pqh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)CAC>CTC		SID1 transmembrane family, member 2 precursor							178.0	134.0	149.0					11																	117058097		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117058097A>T	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1019A>T	11.37:g.117058097A>T	ENSP00000314023:p.His340Leu					SIDT2_uc010rxe.1_Missense_Mutation_p.H340L|SIDT2_uc001pqg.2_Missense_Mutation_p.H340L|SIDT2_uc001pqi.1_Missense_Mutation_p.H344L	p.H340L	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	11	1060	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	340			Cytoplasmic (Potential).		Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1019A>T	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.590831	0.28357	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.17213	2.33;2.29;2.3	4.93	4.93	0.64822	.	0.294956	0.36409	N	0.002602	T	0.15825	0.0381	L	0.38175	1.15	0.37994	D	0.933997	B;B;B;B	0.22800	0.029;0.063;0.016;0.075	B;B;B;B	0.32393	0.089;0.025;0.043;0.145	T	0.12682	-1.0538	10	0.19147	T	0.46	-28.214	12.4572	0.55710	1.0:0.0:0.0:0.0	.	340;344;340;340	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	L	340;340;344	ENSP00000314023:H340L;ENSP00000278951:H340L;ENSP00000399635:H344L	ENSP00000278951:H340L	H	+	2	0	SIDT2	116563307	0.115000	0.22152	1.000000	0.80357	0.875000	0.50365	2.288000	0.43514	2.083000	0.62718	0.459000	0.35465	CAC		0.527	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		7	142	0	0	0	0.006214	0	7	142				
TRIM29	23650	broad.mit.edu	37	11	119998125	119998125	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:119998125A>C	ENST00000341846.5	-	3	1474	c.1053T>G	c.(1051-1053)gaT>gaG	p.D351E	TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Missense_Mutation_p.D90E|TRIM29_ENST00000541857.1_Missense_Mutation_p.D84E	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	351					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D351E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGGCTCTCTCATCCAGAGCAT	0.572																																							uc001pwz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1051-1053)GAT>GAG		tripartite motif protein TRIM29							174.0	144.0	154.0					11																	119998125		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998125A>C	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1053T>G	11.37:g.119998125A>C	ENSP00000343129:p.Asp351Glu					TRIM29_uc010rzi.1_Missense_Mutation_p.D90E|TRIM29_uc010rzj.1_Missense_Mutation_p.D84E|TRIM29_uc001pxa.2_RNA	p.D351E	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1177	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	351			Potential.		Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.1053T>G	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	A	4.027	0.002410	0.07819	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.29655	1.56	5.14	-10.3	0.00346	.	0.268303	0.32028	N	0.006696	T	0.08891	0.0220	N	0.08118	0	0.20074	N	0.999939	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.002	T	0.08700	-1.0709	9	.	.	.	.	7.1321	0.25507	0.6191:0.0587:0.1453:0.1768	.	84;90;351	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	E	351;84;90	ENSP00000343129:D351E	.	D	-	3	2	TRIM29	119503335	0.002000	0.14202	0.050000	0.19076	0.634000	0.38068	-1.341000	0.02647	-3.331000	0.00185	-0.912000	0.02778	GAT		0.572	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		11	146	0	0	0	0.001368	0	11	146				
SORL1	6653	broad.mit.edu	37	11	121495847	121495847	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:121495847G>T	ENST00000260197.7	+	46	6354	c.6225G>T	c.(6223-6225)ggG>ggT	p.G2075G	SORL1_ENST00000532694.1_Silent_p.G921G|SORL1_ENST00000525532.1_Silent_p.G1019G|SORL1_ENST00000534286.1_Silent_p.G985G|SORL1_ENST00000527934.1_Silent_p.G690G	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2075	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.G2075G(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTACCTTGGGAATACTACTG	0.398																																							uc001pxx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(6223-6225)GGG>GGT		sortilin-related receptor containing LDLR class							167.0	158.0	161.0					11																	121495847		2202	4299	6501	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121495847G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.6225G>T	11.37:g.121495847G>T						SORL1_uc010rzp.1_Silent_p.G921G|SORL1_uc010rzq.1_Silent_p.G690G	p.G2075G	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	46	6305	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	2075			Extracellular (Potential).|Fibronectin type-III 6.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.6225G>T	CCDS8436.1																																																																																				0.398	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		40	122	1	0	2.95478e-19	0.00874	5.05595e-19	40	122				
OR10G8	219869	broad.mit.edu	37	11	123900553	123900553	+	Missense_Mutation	SNP	C	C	T	rs368438499		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:123900553C>T	ENST00000431524.1	+	1	257	c.224C>T	c.(223-225)aCg>aTg	p.T75M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T75M(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCACTGTCACGGTGCCCAAA	0.522																																							uc001pzp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(223-225)ACG>ATG		olfactory receptor, family 10, subfamily G,		C	MET/THR	0,4402		0,0,2201	239.0	196.0	210.0		224	3.0	1.0	11		210	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR10G8	NM_001004464.1	81	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	75/312	123900553	1,12999	2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900553C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.224C>T	11.37:g.123900553C>T	ENSP00000389072:p.Thr75Met						p.T75M	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	224	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	75			Extracellular (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.224C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180283	0.57800	0.0	1.16E-4	ENSG00000234560	ENST00000431524	T	0.00532	6.75	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.269957	0.26594	N	0.023504	T	0.02083	0.0065	M	0.80183	2.485	0.32868	D	0.508908	D	0.89917	1.0	D	0.76071	0.987	T	0.21143	-1.0254	10	0.72032	D	0.01	.	13.0832	0.59125	0.0:1.0:0.0:0.0	.	75	Q8NGN5	O10G8_HUMAN	M	75	ENSP00000389072:T75M	ENSP00000389072:T75M	T	+	2	0	OR10G8	123405763	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.219000	0.17641	1.634000	0.50500	0.585000	0.79938	ACG		0.522	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		33	150	0	0	0	0.003271	0	33	150				
OR10G8	219869	broad.mit.edu	37	11	123901089	123901089	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:123901089G>C	ENST00000431524.1	+	1	793	c.760G>C	c.(760-762)Ggt>Cgt	p.G254R		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G254R(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTTGGCCCTGGTCTTTTCAT	0.552																																							uc001pzp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(760-762)GGT>CGT		olfactory receptor, family 10, subfamily G,							133.0	117.0	122.0					11																	123901089		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901089G>C	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.760G>C	11.37:g.123901089G>C	ENSP00000389072:p.Gly254Arg						p.G254R	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	760	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	254			Helical; Name=6; (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.760G>C	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	6.222	0.409062	0.11812	.	.	ENSG00000234560	ENST00000431524	T	0.00158	8.65	2.91	-5.83	0.02325	GPCR, rhodopsin-like superfamily (1);	0.677862	0.12919	N	0.428289	T	0.00271	0.0008	L	0.52823	1.66	0.09310	N	1	P	0.46621	0.881	P	0.59424	0.857	T	0.05852	-1.0860	10	0.87932	D	0	.	10.8097	0.46540	0.0:0.1076:0.2168:0.6756	.	254	Q8NGN5	O10G8_HUMAN	R	254	ENSP00000389072:G254R	ENSP00000389072:G254R	G	+	1	0	OR10G8	123406299	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-7.385000	0.00037	-1.437000	0.01967	-0.270000	0.10280	GGT		0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		34	117	0	0	0	0.003271	0	34	117				
OR8B3	390271	broad.mit.edu	37	11	124266395	124266395	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124266395T>A	ENST00000354597.3	-	1	869	c.853A>T	c.(853-855)Aat>Tat	p.N285Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N285Y(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGAGAGGATTGAGCATGGGC	0.373																																							uc010saj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(853-855)AAT>TAT		olfactory receptor, family 8, subfamily B,							83.0	91.0	89.0					11																	124266395		2201	4299	6500	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266395T>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.853A>T	11.37:g.124266395T>A	ENSP00000346611:p.Asn285Tyr					OR8B2_uc001qab.3_Intron	p.N285Y	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	853	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	285			Helical; Name=7; (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.853A>T	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	11.58	1.681396	0.29872	.	.	ENSG00000196661	ENST00000354597	T	0.59638	0.25	3.76	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.81564	0.4849	H	0.95504	3.68	0.40520	D	0.980826	D	0.89917	1.0	D	0.79108	0.992	D	0.87540	0.2458	10	0.87932	D	0	.	13.1899	0.59704	0.0:0.0:0.0:1.0	.	285	Q8NGG8	OR8B3_HUMAN	Y	285	ENSP00000346611:N285Y	ENSP00000346611:N285Y	N	-	1	0	OR8B3	123771605	1.000000	0.71417	0.910000	0.35882	0.006000	0.05464	5.404000	0.66344	1.933000	0.56026	0.528000	0.53228	AAT		0.373	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		35	132	0	0	0	0.003755	0	35	132				
OR8B8	26493	broad.mit.edu	37	11	124310761	124310761	+	Missense_Mutation	SNP	G	G	T	rs267602760		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124310761G>T	ENST00000328064.2	-	1	293	c.221C>A	c.(220-222)tCc>tAc	p.S74Y		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	74					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)	p.S74F(2)|p.S74Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GATAACACTGGAATAGCAGAA	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22521	0.0		0.0	False		,,,				2504	0.0						uc010sal.1		NA																	3	Substitution - Missense(3)		skin(2)|lung(1)	ovary(1)	1						c.(220-222)TCC>TAC		olfactory receptor, family 8, subfamily B,							108.0	110.0	109.0					11																	124310761		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310761G>T	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.221C>A	11.37:g.124310761G>T	ENSP00000330280:p.Ser74Tyr						p.S74Y	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	221	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	74			Helical; Name=2; (Potential).		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.221C>A	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359477	0.41801	.	.	ENSG00000197125	ENST00000328064	T	0.00840	5.63	3.52	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.137254	0.33691	N	0.004659	T	0.07279	0.0184	H	0.96604	3.85	0.25955	N	0.982691	D	0.89917	1.0	D	0.72338	0.977	T	0.09574	-1.0668	10	0.87932	D	0	.	5.7246	0.18006	0.1434:0.1998:0.6568:0.0	.	74	Q15620	OR8B8_HUMAN	Y	74	ENSP00000330280:S74Y	ENSP00000330280:S74Y	S	-	2	0	OR8B8	123815971	0.011000	0.17503	1.000000	0.80357	0.993000	0.82548	1.662000	0.37418	1.017000	0.39495	0.557000	0.71058	TCC		0.428	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		25	67	1	0	4.87955e-14	0.005443	7.71511e-14	25	67				
ROBO3	64221	broad.mit.edu	37	11	124742353	124742353	+	Missense_Mutation	SNP	C	C	A	rs537387358	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124742353C>A	ENST00000397801.1	+	8	1427	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	ROBO3_ENST00000538940.1_Missense_Mutation_p.T390N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	412	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.T412N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTTAACATCACCGCGGTGCAG	0.602																																							uc001qbc.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1234-1236)ACC>AAC		roundabout, axon guidance receptor, homolog 3							74.0	75.0	75.0					11																	124742353		2093	4231	6324	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742353C>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1235C>A	11.37:g.124742353C>A	ENSP00000380903:p.Thr412Asn						p.T412N	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	8	1427	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	412			Ig-like C2-type 4.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.1235C>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863882	0.51482	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.66815	-0.23;-0.23	5.7	2.72	0.32119	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000698	T	0.67627	0.2913	L	0.33137	0.985	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.63093	-0.6714	10	0.40728	T	0.16	.	5.5489	0.17079	0.1377:0.5257:0.2657:0.0709	.	412	Q96MS0	ROBO3_HUMAN	N	412;390	ENSP00000380903:T412N;ENSP00000441797:T390N	ENSP00000380903:T412N	T	+	2	0	ROBO3	124247563	0.003000	0.15002	0.226000	0.23910	0.481000	0.33189	0.532000	0.23067	0.297000	0.22615	0.655000	0.94253	ACC		0.602	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		9	50	1	0	1.12685e-05	0.004482	1.36427e-05	9	50				
CCDC15	80071	broad.mit.edu	37	11	124857934	124857934	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:124857934G>T	ENST00000344762.5	+	8	2071	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	CCDC15_ENST00000529051.1_Missense_Mutation_p.Q604H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	604						centrosome (GO:0005813)		p.Q604H(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCATATGTCAGGACCGGGATT	0.413																																							uc001qbm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1810-1812)CAG>CAT		coiled-coil domain containing 15							124.0	117.0	119.0					11																	124857934		1812	4079	5891	SO:0001583	missense	80071					centrosome		g.chr11:124857934G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1812G>T	11.37:g.124857934G>T	ENSP00000341684:p.Gln604His						p.Q604H	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	2071	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	604					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1812G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	8.521	0.868803	0.17322	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.36699	1.24;1.24	3.1	0.0345	0.14184	.	.	.	.	.	T	0.19248	0.0462	L	0.29908	0.895	0.19575	N	0.999962	P	0.40032	0.699	B	0.34931	0.192	T	0.16335	-1.0406	9	0.14656	T	0.56	13.8864	6.4066	0.21668	0.3902:0.0:0.6098:0.0	.	604	Q0P6D6	CCD15_HUMAN	H	604	ENSP00000435403:Q604H;ENSP00000341684:Q604H	ENSP00000341684:Q604H	Q	+	3	2	CCDC15	124363144	0.009000	0.17119	0.406000	0.26421	0.014000	0.08584	0.827000	0.27421	0.139000	0.18822	-0.375000	0.07067	CAG		0.413	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		32	164	1	0	1.13719e-10	0.008361	1.67106e-10	32	164				
CDON	50937	broad.mit.edu	37	11	125864222	125864222	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:125864222T>A	ENST00000392693.3	-	14	2734	c.2607A>T	c.(2605-2607)acA>acT	p.T869T	CDON_ENST00000531738.1_Silent_p.T246T|CDON_ENST00000263577.7_Silent_p.T869T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	869	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T869T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTCACTATCTGTTGGTCGGT	0.388																																							uc009zbw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(2605-2607)ACA>ACT		surface glycoprotein, Ig superfamily member							120.0	108.0	112.0					11																	125864222		2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125864222T>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2607A>T	11.37:g.125864222T>A						CDON_uc001qdb.3_Silent_p.T246T|CDON_uc001qdc.3_Silent_p.T869T	p.T869T	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	14	2735	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	869			Extracellular (Potential).|Fibronectin type-III 3.		O14631	Silent	SNP	ENST00000392693.3	37	c.2607A>T	CCDS58192.1																																																																																				0.388	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		5	38	0	0	0	0.001984	0	5	38				
FAM118B	79607	broad.mit.edu	37	11	126081500	126081500	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:126081500A>T	ENST00000533050.1	+	0	192				RPUSD4_ENST00000534393.1_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000529731.1_5'Flank|RNU4-86P_ENST00000410135.1_RNA|RPUSD4_ENST00000298317.4_Missense_Mutation_p.W12R|RPUSD4_ENST00000533628.1_Missense_Mutation_p.W12R|FAM118B_ENST00000360194.4_5'Flank	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B									p.W12R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CCCCGGATCCAGGGGCCCGAC	0.637																																							uc001qde.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(34-36)TGG>AGG		RNA pseudouridylate synthase domain containing 4							59.0	68.0	65.0					11																	126081500		2201	4299	6500			84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126081500A>T	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.-302A>T	11.37:g.126081500A>T						FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.W12R|RPUSD4_uc009zby.2_RNA	p.W12R	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	1	88	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	12					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.34T>A	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	A	2.107	-0.404713	0.04832	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.21734	3.04;2.85;1.99	5.31	-4.53	0.03462	.	1.612540	0.02902	N	0.135581	T	0.25606	0.0623	M	0.72118	2.19	0.09310	N	0.999993	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.38156	-0.9674	10	0.25106	T	0.35	-20.2094	13.5942	0.61979	0.3717:0.0:0.6283:0.0	.	12;12	E9PML2;Q96CM3	.;RUSD4_HUMAN	R	12	ENSP00000298317:W12R;ENSP00000433065:W12R;ENSP00000433709:W12R	ENSP00000298317:W12R	W	-	1	0	RPUSD4	125586710	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.347000	0.07750	-0.728000	0.04882	-0.417000	0.06048	TGG		0.637	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		52	115	0	0	0	0.00361	0	52	115				
FAM118B	79607	broad.mit.edu	37	11	126110847	126110847	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:126110847G>A	ENST00000533050.1	+	4	740	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	FAM118B_ENST00000529731.1_Missense_Mutation_p.E83K|FAM118B_ENST00000360194.4_Missense_Mutation_p.E83K|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	83								p.E83K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGATCTTTTAGAAGATGAGGA	0.463																																							uc001qdf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GAA>AAA		hypothetical protein LOC79607							154.0	162.0	159.0					11																	126110847		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126110847G>A	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.247G>A	11.37:g.126110847G>A	ENSP00000433343:p.Glu83Lys					FAM118B_uc009zca.2_Missense_Mutation_p.E87K|FAM118B_uc001qdg.2_Missense_Mutation_p.E83K	p.E83K	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	4	430	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	83					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.247G>A	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647576	0.87958	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.49432	1.35;1.35;0.81;1.34;0.78;0.82	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	N	0.14661	0.345	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.76071	0.987;0.971;0.971	T	0.32640	-0.9899	10	0.06757	T	0.87	-30.4075	20.6721	0.99693	0.0:0.0:1.0:0.0	.	83;83;83	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	K	83	ENSP00000433343:E83K;ENSP00000434952:E83K;ENSP00000432712:E83K;ENSP00000353321:E83K;ENSP00000437285:E83K;ENSP00000435754:E83K	ENSP00000353321:E83K	E	+	1	0	FAM118B	125616057	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	9.715000	0.98748	2.894000	0.99253	0.591000	0.81541	GAA		0.463	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		26	229	0	0	0	0.003954	0	26	229				
NTM	50863	broad.mit.edu	37	11	132016316	132016316	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:132016316A>G	ENST00000374786.1	+	2	787	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	NTM_ENST00000427481.2_Missense_Mutation_p.Q94R|NTM_ENST00000374791.3_Missense_Mutation_p.Q103R|NTM_ENST00000425719.2_Missense_Mutation_p.Q103R|NTM_ENST00000539799.1_Missense_Mutation_p.Q103R|NTM_ENST00000374784.1_Missense_Mutation_p.Q103R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	103	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Q103R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATCGAGATCCAGAACGTGGAT	0.557																																							uc001qgp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(307-309)CAG>CGG		neurotrimin isoform 1							186.0	128.0	148.0					11																	132016316		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016316A>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.308A>G	11.37:g.132016316A>G	ENSP00000363918:p.Gln103Arg					NTM_uc001qgm.2_Missense_Mutation_p.Q103R|NTM_uc010sch.1_Missense_Mutation_p.Q94R|NTM_uc010sci.1_Missense_Mutation_p.Q103R|NTM_uc010scj.1_Missense_Mutation_p.Q62R|NTM_uc001qgo.2_Missense_Mutation_p.Q103R|NTM_uc001qgq.2_Missense_Mutation_p.Q103R	p.Q103R	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	972	+			103			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.308A>G	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050126	0.55218	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111966	0.64402	D	0.000007	T	0.50718	0.1632	N	0.10945	0.07	0.35784	D	0.821837	P;B;B;B;B;B	0.36712	0.566;0.021;0.2;0.062;0.005;0.017	B;B;B;B;B;B	0.42959	0.403;0.156;0.149;0.156;0.097;0.097	T	0.55685	-0.8102	10	0.06757	T	0.87	-15.8599	15.7398	0.77882	1.0:0.0:0.0:0.0	.	103;94;103;103;103;103	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	R	103;103;94;94;103;103;103	ENSP00000363923:Q103R;ENSP00000437668:Q103R;ENSP00000448104:Q94R;ENSP00000416320:Q94R;ENSP00000363918:Q103R;ENSP00000396722:Q103R;ENSP00000363916:Q103R	ENSP00000363916:Q103R	Q	+	2	0	NTM	131521526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.081000	0.57627	2.126000	0.65437	0.533000	0.62120	CAG		0.557	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		9	74	0	0	0	0.004482	0	9	74				
NCAPD3	23310	broad.mit.edu	37	11	134073739	134073739	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:134073739C>T	ENST00000534548.2	-	11	1342	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	426					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.E426E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGTTATCCACCTCTCTTTCAG	0.438																																							uc001qhd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(1276-1278)GAG>GAA		non-SMC condensin II complex, subunit D3							94.0	98.0	96.0					11																	134073739		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134073739C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1278G>A	11.37:g.134073739C>T						NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	p.E426E	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	11	1884	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	426					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.1278G>A	CCDS31723.1																																																																																				0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		31	113	0	0	0	0.002096	0	31	113				
RHNO1	83695	broad.mit.edu	37	12	2997093	2997093	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:2997093A>T	ENST00000489288.2	+	3	337	c.185A>T	c.(184-186)gAt>gTt	p.D62V	TULP3_ENST00000448120.2_5'Flank|RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.D48V|TULP3_ENST00000397132.2_5'Flank	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	62					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)		p.D62V(1)									CCTGATTTTGATACAGCAGCA	0.418																																							uc001qlh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GAT>GTT		RecName: Full=Uncharacterized protein C12orf32;							51.0	46.0	48.0					12																	2997093		2203	4300	6503	SO:0001583	missense	83695							g.chr12:2997093A>T	AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.185A>T	12.37:g.2997093A>T	ENSP00000438590:p.Asp62Val					TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'Flank|TULP3_uc010seg.1_5'Flank|TULP3_uc001qlj.2_5'Flank|TULP3_uc010seh.1_5'Flank|TULP3_uc010sei.1_5'Flank|C12orf32_uc010see.1_Missense_Mutation_p.D48V|C12orf32_uc001qli.2_5'UTR	p.D62V	NR_027363				OV - Ovarian serous cystadenocarcinoma(31;0.000622)		3	353	+								B7Z989	Missense_Mutation	SNP	ENST00000489288.2	37	c.185A>T	CCDS8518.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.919175	0.33908	.	.	ENSG00000171792	ENST00000538636;ENST00000461997;ENST00000489288;ENST00000366285;ENST00000538700	.	.	.	5.42	4.28	0.50868	.	0.746154	0.12787	N	0.439220	T	0.62429	0.2427	.	.	.	0.80722	D	1	P;P	0.52061	0.95;0.95	P;P	0.50708	0.648;0.648	T	0.60979	-0.7155	8	0.87932	D	0	0.2392	7.8443	0.29417	0.9066:0.0:0.0934:0.0	.	48;62	B7Z989;Q9BSD3	.;RHINO_HUMAN	V	62;48;62;62;62	.	ENSP00000444654:D62V	D	+	2	0	C12orf32	2867354	0.987000	0.35691	0.708000	0.30435	0.542000	0.35054	3.058000	0.49939	0.903000	0.36546	0.482000	0.46254	GAT		0.418	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351286.2	NM_031465		7	14	0	0	0	0.001984	0	7	14				
KCNA6	3742	broad.mit.edu	37	12	4919230	4919230	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:4919230C>T	ENST00000280684.3	+	1	889	c.23C>T	c.(22-24)aCg>aTg	p.T8M	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.T8M			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	8					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.T8M(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AAATCCCTTACGCTGGCGGCG	0.716										HNSCC(72;0.22)																													uc001qng.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(22-24)ACG>ATG		potassium voltage-gated channel, shaker-related							10.0	15.0	14.0					12																	4919230		2087	4133	6220	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919230C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.23C>T	12.37:g.4919230C>T	ENSP00000280684:p.Thr8Met	HNSCC(72;0.22)					p.T8M	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	889	+			8						Missense_Mutation	SNP	ENST00000280684.3	37	c.23C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887071	0.33348	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97328	-4.34;-4.34	4.46	3.57	0.40892	.	0.461581	0.20381	N	0.093444	D	0.89894	0.6847	N	0.08118	0	0.29426	N	0.860203	P	0.37708	0.606	B	0.32289	0.143	D	0.86231	0.1637	10	0.34782	T	0.22	.	10.0482	0.42199	0.0:0.9007:0.0:0.0993	.	8	P17658	KCNA6_HUMAN	M	8	ENSP00000408321:T8M;ENSP00000280684:T8M	ENSP00000280684:T8M	T	+	2	0	KCNA6	4789491	0.006000	0.16342	0.837000	0.33122	0.985000	0.73830	1.007000	0.29860	1.089000	0.41292	0.462000	0.41574	ACG		0.716	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		9	42	0	0	0	0.004482	0	9	42				
NTF3	4908	broad.mit.edu	37	12	5603685	5603685	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:5603685C>A	ENST00000331010.6	+	1	388	c.305C>A	c.(304-306)cCg>cAg	p.P102Q	NTF3_ENST00000423158.3_Missense_Mutation_p.P115Q|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	102					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.P102Q(1)|p.P102L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TACAACTCACCGCGGGTCCTG	0.642																																					GBM(194;1104 2182 8339 9578 18493)	GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	pancreas(1)	1						c.(304-306)CCG>CAG		neurotrophin 3 isoform 2 preproprotein							52.0	58.0	56.0					12																	5603685		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603685C>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.305C>A	12.37:g.5603685C>A	ENSP00000328738:p.Pro102Gln					NTF3_uc001qnk.3_Missense_Mutation_p.P115Q	p.P102Q	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	388	+			102					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.305C>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324817	0.81580	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.46451	0.87;0.87	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	T	0.76661	-0.2877	10	0.87932	D	0	-16.8411	18.4188	0.90582	0.0:1.0:0.0:0.0	.	102;115	P20783;B7Z1T5	NTF3_HUMAN;.	Q	115;102	ENSP00000397297:P115Q;ENSP00000328738:P102Q	ENSP00000328738:P102Q	P	+	2	0	NTF3	5473946	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.818000	0.86416	2.610000	0.88304	0.591000	0.81541	CCG		0.642	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			31	52	1	0	0.000409698	0.002445	0.000464606	31	52				
NOP2	4839	broad.mit.edu	37	12	6669388	6669388	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:6669388T>A	ENST00000322166.5	-	15	1786	c.1665A>T	c.(1663-1665)cgA>cgT	p.R555R	NOP2_ENST00000545200.1_Silent_p.R551R|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Silent_p.R588R|NOP2_ENST00000541778.1_Silent_p.R551R|NOP2_ENST00000399466.2_Silent_p.R551R|NOP2_ENST00000537442.1_Silent_p.R555R	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	555					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R551R(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCGCCTTTCTCGAAAGCGGG	0.502																																							uc001qph.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1651-1653)CGA>CGT		nucleolar protein 1, 120kDa							82.0	84.0	84.0					12																	6669388		1906	4142	6048	SO:0001819	synonymous_variant	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6669388T>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1665A>T	12.37:g.6669388T>A						NOP2_uc009zeq.1_Silent_p.R267R|NOP2_uc001qpi.1_Silent_p.R551R|NOP2_uc001qpj.1_5'UTR	p.R551R	NM_001033714	NP_001028886	P46087	NOP2_HUMAN			15	1833	-			555					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	c.1653A>T	CCDS58203.1																																																																																				0.502	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		11	61	0	0	0	0.000978	0	11	61				
ABCC9	10060	broad.mit.edu	37	12	21971084	21971084	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:21971084C>A	ENST00000261201.4	-	30	3770	c.3771G>T	c.(3769-3771)acG>acT	p.T1257T	ABCC9_ENST00000345162.2_Splice_Site_p.T1221T|ABCC9_ENST00000261200.4_Splice_Site_p.T1257T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1257	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.T1257T(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCATACCTACCGTAAGTGCAT	0.418																																							uc001rfi.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(3769-3771)ACG>ACT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						152.0	149.0	150.0					12																	21971084		2203	4300	6503	SO:0001630	splice_region_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21971084C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3771+1G>T	12.37:g.21971084C>A						ABCC9_uc001rfh.2_Silent_p.T1257T|ABCC9_uc001rfj.1_Silent_p.T1221T	p.T1257T	NM_005691	NP_005682	O60706	ABCC9_HUMAN			30	3791	-			1257			Helical; Name=15; (Potential).|ABC transmembrane type-1 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.3771G>T	CCDS8694.1																																																																																				0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	Silent	52	126	1	0	2.41709e-19	0.00361	4.14051e-19	52	126				
ABCC9	10060	broad.mit.edu	37	12	22012543	22012543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:22012543G>A	ENST00000261201.4	-	20	2481	c.2482C>T	c.(2482-2484)Caa>Taa	p.Q828*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.Q792*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Nonsense_Mutation_p.Q828*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	828	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.Q828*(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTGGTGTTTTGATACAGCGCT	0.408																																							uc001rfi.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2482-2484)CAA>TAA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						186.0	182.0	183.0					12																	22012543		2203	4300	6503	SO:0001587	stop_gained	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22012543G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2482C>T	12.37:g.22012543G>A	ENSP00000261201:p.Gln828*					ABCC9_uc001rfh.2_Nonsense_Mutation_p.Q828*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.Q792*	p.Q828*	NM_005691	NP_005682	O60706	ABCC9_HUMAN			20	2502	-			828			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Nonsense_Mutation	SNP	ENST00000261201.4	37	c.2482C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	40	8.241178	0.98722	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.649	17.8397	0.88712	0.0:0.0:1.0:0.0	.	.	.	.	X	828;455;828;792	.	ENSP00000261200:Q828X	Q	-	1	0	ABCC9	21903810	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.640000	0.98453	2.449000	0.82847	0.467000	0.42956	CAA		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		26	286	0	0	0	0.009535	0	26	286				
TM7SF3	51768	broad.mit.edu	37	12	27129254	27129254	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:27129254C>G	ENST00000343028.4	-	10	1451	c.1226G>C	c.(1225-1227)tGg>tCg	p.W409S	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	409						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W409S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GAAAGTGACCCAGAATACACC	0.343																																							uc010sjl.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(1225-1227)TGG>TCG		transmembrane 7 superfamily member 3 precursor							121.0	118.0	119.0					12																	27129254		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27129254C>G	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1226G>C	12.37:g.27129254C>G	ENSP00000342322:p.Trp409Ser						p.W409S	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			10	1464	-	Colorectal(261;0.0847)		409			Helical; (Potential).		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1226G>C	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106022	0.77096	.	.	ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000537406	T	0.35973	1.28	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.58440	-0.7636	10	0.54805	T	0.06	-9.6664	17.4331	0.87544	0.0:1.0:0.0:0.0	.	409	Q9NS93	TM7S3_HUMAN	S	409;123;27	ENSP00000342322:W409S	ENSP00000342322:W409S	W	-	2	0	TM7SF3	27020521	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.179000	0.71974	2.854000	0.98071	0.655000	0.94253	TGG		0.343	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		7	35	0	0	0	0.00308	0	7	35				
OVCH1	341350	broad.mit.edu	37	12	29604465	29604465	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:29604465G>A	ENST00000318184.5	-	22	2567	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	856	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.G856G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGGAAAAAAGCCTCTAGGCT	0.428																																							uc001rix.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(2566-2568)GGC>GGT		ovochymase 1 precursor							56.0	53.0	54.0					12																	29604465		1851	4095	5946	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29604465G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2568C>T	12.37:g.29604465G>A							p.G856G	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			22	2568	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		856			CUB 3.			Silent	SNP	ENST00000318184.5	37	c.2568C>T																																																																																					0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		11	27	0	0	0	0.00245	0	11	27				
BICD1	636	broad.mit.edu	37	12	32491768	32491768	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:32491768G>T	ENST00000281474.5	+	8	2722	c.2619G>T	c.(2617-2619)ggG>ggT	p.G873G	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	873					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.G873G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGACTTCAGGGGCTTCCTACC	0.433																																							uc001rku.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2617-2619)GGG>GGT		bicaudal D homolog 1 isoform 1							103.0	115.0	111.0					12																	32491768		2203	4300	6503	SO:0001819	synonymous_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32491768G>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2619G>T	12.37:g.32491768G>T						BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	p.G873G	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		8	2700	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		873					A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.2619G>T	CCDS8726.1																																																																																				0.433	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		68	111	1	0	1.43987e-31	0.00361	2.68775e-31	68	111				
TMBIM6	7009	broad.mit.edu	37	12	50152023	50152023	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:50152023C>T	ENST00000267115.5	+	5	385	c.300C>T	c.(298-300)ggC>ggT	p.G100G	TMBIM6_ENST00000395006.4_Silent_p.G100G|TMBIM6_ENST00000549385.1_Silent_p.G100G|TMBIM6_ENST00000552699.1_Silent_p.G158G|TMBIM6_ENST00000423828.1_Silent_p.G158G|TMBIM6_ENST00000547798.1_Silent_p.G63G	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	100					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G100G(1)|p.G158G(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGGCCTGGGCCCTGCCCTGG	0.413																																							uc001rux.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(298-300)GGC>GGT		testis enhanced gene transcript (BAX inhibitor							299.0	292.0	294.0					12																	50152023		2203	4300	6503	SO:0001819	synonymous_variant	7009				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		g.chr12:50152023C>T	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.300C>T	12.37:g.50152023C>T						TMBIM6_uc010sml.1_Silent_p.G100G|TMBIM6_uc001ruy.2_Silent_p.G158G|TMBIM6_uc001ruz.2_Silent_p.G100G	p.G100G	NM_003217	NP_003208	P55061	BI1_HUMAN			5	432	+			100			Helical; (Potential).		B2R5M4|F8W034|O14938|Q643A7|Q96J50	Silent	SNP	ENST00000267115.5	37	c.300C>T	CCDS31797.1																																																																																				0.413	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1	NM_003217		81	142	0	0	0	0.00361	0	81	142				
DIP2B	57609	broad.mit.edu	37	12	51100372	51100372	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:51100372G>T	ENST00000301180.5	+	21	2492	c.2458G>T	c.(2458-2460)Ggt>Tgt	p.G820C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	820						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G820C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GATGGTTAGTGGTCGAAGACA	0.363																																							uc001rwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(2458-2460)GGT>TGT		DIP2 disco-interacting protein 2 homolog B							304.0	289.0	294.0					12																	51100372		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51100372G>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2458G>T	12.37:g.51100372G>T	ENSP00000301180:p.Gly820Cys					DIP2B_uc009zlt.2_Missense_Mutation_p.G250C	p.G820C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			21	2614	+			820					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.2458G>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611920	0.87258	.	.	ENSG00000066084	ENST00000301180	T	0.71222	-0.55	4.11	4.11	0.48088	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.80183	2.485	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.86880	0.2041	10	0.72032	D	0.01	-13.3908	17.6502	0.88161	0.0:0.0:1.0:0.0	.	820	Q9P265	DIP2B_HUMAN	C	820	ENSP00000301180:G820C	ENSP00000301180:G820C	G	+	1	0	DIP2B	49386639	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.420000	0.73349	2.582000	0.87167	0.591000	0.81541	GGT		0.363	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		31	54	1	0	4.40665e-25	0.009535	7.90936e-25	31	54				
BIN2	51411	broad.mit.edu	37	12	51717914	51717914	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:51717914C>A	ENST00000267012.4	-	0	34				BIN2_ENST00000604560.1_5'Flank|BIN2_ENST00000452142.2_De_novo_Start_OutOfFrame|BIN2_ENST00000544402.1_Intron|BIN2_ENST00000603260.1_5'Flank	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2						cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGCCGCCGCCCTGGCCCCGCG	0.726																																							uc001ryg.2		NA																	0				ovary(1)	1						c.(-29--25)CAGGG>CATGG		bridging integrator 2							13.0	15.0	14.0					12																	51717914		2189	4281	6470			51411					cytoplasm	protein binding	g.chr12:51717914C>A	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.-28G>T	12.37:g.51717914C>A						BIN2_uc009zlz.2_Translation_Start_Site|BIN2_uc001ryh.2_Translation_Start_Site|BIN2_uc010sng.1_Intron		NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			1	25	-								Q86VV0|Q9NWK4|Q9UKN4	Translation_Start_Site	SNP	ENST00000267012.4	37	c.-27G>T	CCDS8811.1																																																																																				0.726	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			11	17	1	0	3.07112e-06	0.000978	3.80187e-06	11	17				
ACVR1B	91	broad.mit.edu	37	12	52369262	52369262	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:52369262A>G	ENST00000257963.4	+	2	382	c.305A>G	c.(304-306)aAc>aGc	p.N102S	ACVR1B_ENST00000542485.1_Missense_Mutation_p.N50S|ACVR1B_ENST00000415850.2_Missense_Mutation_p.N102S|ACVR1B_ENST00000541224.1_Missense_Mutation_p.N102S|ACVR1B_ENST00000426655.2_Missense_Mutation_p.N102S	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	102					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.N102S(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GACTACTGCAACAGGATCGAC	0.562																																							uc001rzn.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(304-306)AAC>AGC		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						94.0	72.0	80.0					12																	52369262		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52369262A>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.305A>G	12.37:g.52369262A>G	ENSP00000257963:p.Asn102Ser					ACVR1B_uc001rzl.2_Missense_Mutation_p.N102S|ACVR1B_uc001rzm.2_Missense_Mutation_p.N102S|ACVR1B_uc010snn.1_Missense_Mutation_p.N102S	p.N102S	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	2	347	+			102			Extracellular (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.305A>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754422	0.89843	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000536420;ENST00000415850;ENST00000542485	D;D;D;D;D;D	0.99941	-8.45;-8.45;-8.45;-8.45;-8.45;-8.45	4.88	4.88	0.63580	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;0.996;0.987	D	0.95303	0.8405	10	0.87932	D	0	.	15.1996	0.73126	1.0:0.0:0.0:0.0	.	102;102;102;102	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	S	102;102;102;50;102;50	ENSP00000257963:N102S;ENSP00000442656:N102S;ENSP00000390477:N102S;ENSP00000443218:N50S;ENSP00000397550:N102S;ENSP00000442885:N50S	ENSP00000257963:N102S	N	+	2	0	ACVR1B	50655529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.089000	0.94137	2.135000	0.66039	0.528000	0.53228	AAC		0.562	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		15	22	0	0	0	0.004007	0	15	22				
KRT82	3888	broad.mit.edu	37	12	52799789	52799789	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:52799789G>A	ENST00000257974.2	-	1	350	c.273C>T	c.(271-273)tgC>tgT	p.C91C	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	91	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.C91C(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGGGGTGATGCAGGCAGAAG	0.617																																							uc001sai.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(271-273)TGC>TGT		keratin 82							100.0	94.0	96.0					12																	52799789		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52799789G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.273C>T	12.37:g.52799789G>A							p.C91C	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	1	388	-			91			Head.			Silent	SNP	ENST00000257974.2	37	c.273C>T	CCDS8826.1																																																																																				0.617	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		30	49	0	0	0	0.009535	0	30	49				
KRT74	121391	broad.mit.edu	37	12	52964617	52964617	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:52964617C>G	ENST00000305620.2	-	5	891	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	KRT74_ENST00000549343.1_Splice_Site_p.E282Q	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	282	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.E282Q(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGAGCGATCTCCTGCATTGAG	0.577																																							uc001sap.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(844-846)GAG>CAG		keratin 6 irs4							97.0	77.0	84.0					12																	52964617		2203	4300	6503	SO:0001630	splice_region_variant	121391					keratin filament	structural molecule activity	g.chr12:52964617C>G	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.844-1G>C	12.37:g.52964617C>G							p.E282Q	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	892	-			282			Coil 1B.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.844G>C	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519546	0.85495	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.96265	-3.96;-3.96	4.49	4.49	0.54785	Filament (1);	0.000000	0.35739	N	0.003001	D	0.98960	0.9646	H	0.98487	4.245	0.58432	D	0.999995	D	0.76494	0.999	D	0.76575	0.988	D	0.99253	1.0888	10	0.87932	D	0	.	18.0947	0.89485	0.0:1.0:0.0:0.0	.	282	Q7RTS7	K2C74_HUMAN	Q	282	ENSP00000447447:E282Q;ENSP00000307240:E282Q	ENSP00000307240:E282Q	E	-	1	0	KRT74	51250884	1.000000	0.71417	0.982000	0.44146	0.801000	0.45260	7.773000	0.85462	2.443000	0.82685	0.655000	0.94253	GAG		0.577	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	Missense_Mutation	13	26	0	0	0	0.003163	0	13	26				
HOXC13	3229	broad.mit.edu	37	12	54333267	54333267	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:54333267G>T	ENST00000243056.3	+	1	733	c.577G>T	c.(577-579)Gtg>Ttg	p.V193L	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	193					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.V193L(1)		breast(1)|large_intestine(1)|skin(1)	3						GGACGTGTCGGTGGTGCCCGG	0.672			T	NUP98	AML																																		uc001sei.2		NA		Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(577-579)GTG>TTG		homeobox C13							17.0	19.0	18.0					12																	54333267		2198	4287	6485	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54333267G>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.577G>T	12.37:g.54333267G>T	ENSP00000243056:p.Val193Leu					HOXC13_uc010sop.1_RNA	p.V193L	NM_017410	NP_059106	P31276	HXC13_HUMAN			1	692	+			193					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.577G>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404750	0.62288	.	.	ENSG00000123364	ENST00000243056	D	0.94000	-3.33	3.06	2.17	0.27698	.	0.080562	0.50627	D	0.000107	D	0.93083	0.7798	M	0.81179	2.53	0.53688	D	0.999975	P	0.35272	0.493	B	0.41135	0.348	D	0.92110	0.5695	10	0.72032	D	0.01	.	9.6719	0.40017	0.1118:0.0:0.8882:0.0	.	193	P31276	HXC13_HUMAN	L	193	ENSP00000243056:V193L	ENSP00000243056:V193L	V	+	1	0	HOXC13	52619534	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.140000	0.58031	0.882000	0.36016	0.313000	0.20887	GTG		0.672	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			10	15	1	0	3.86212e-05	0.008291	4.5402e-05	10	15				
TIMELESS	8914	broad.mit.edu	37	12	56823998	56823998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:56823998C>T	ENST00000553532.1	-	10	1127	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R326Q|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R325Q					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGACAGCTCTCGGGCGGCCTG	0.537																																							uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(976-978)CGA>CAA		timeless homolog							88.0	84.0	85.0					12																	56823998		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56823998C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.977G>A	12.37:g.56823998C>T	ENSP00000450607:p.Arg326Gln					TIMELESS_uc001slg.2_Missense_Mutation_p.R325Q	p.R326Q	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			10	1145	-			326						Missense_Mutation	SNP	ENST00000553532.1	37	c.977G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	7.882	0.730502	0.15507	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12255	3.36;3.34;2.7	5.45	-2.35	0.06684	.	0.844482	0.10856	N	0.626647	T	0.03095	0.0091	N	0.00538	-1.39	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43621	-0.9380	10	0.05721	T	0.95	-3.8324	13.3009	0.60324	0.0:0.1441:0.0:0.8559	.	325;326	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	Q	325;326;326	ENSP00000229201:R325Q;ENSP00000450607:R326Q;ENSP00000450848:R326Q	ENSP00000229201:R326Q	R	-	2	0	TIMELESS	55110265	0.007000	0.16637	0.991000	0.47740	0.967000	0.64934	-0.933000	0.03959	-0.231000	0.09825	0.561000	0.74099	CGA		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		7	54	0	0	0	0.006214	0	7	54				
KIF5A	3798	broad.mit.edu	37	12	57970090	57970090	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:57970090C>A	ENST00000455537.2	+	19	2401	c.2127C>A	c.(2125-2127)gcC>gcA	p.A709A	KIF5A_ENST00000286452.5_Silent_p.A620A	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	709					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A709A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCGGGAGGCCCATCACCGGC	0.607																																							uc001sor.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2125-2127)GCC>GCA		kinesin family member 5A							48.0	55.0	53.0					12																	57970090		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57970090C>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2127C>A	12.37:g.57970090C>A						KIF5A_uc010srr.1_Silent_p.A620A	p.A709A	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			19	2335	+			709					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.2127C>A	CCDS8945.1																																																																																				0.607	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		31	55	1	0	6.04164e-23	0.002096	1.06577e-22	31	55				
SLC16A7	9194	broad.mit.edu	37	12	60168526	60168526	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:60168526C>T	ENST00000261187.4	+	4	614	c.450C>T	c.(448-450)gcC>gcT	p.A150A	SLC16A7_ENST00000552024.1_Silent_p.A150A|SLC16A7_ENST00000552432.1_Silent_p.A150A|SLC16A7_ENST00000543448.1_Silent_p.A51A|SLC16A7_ENST00000547379.1_Silent_p.A150A	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	150					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.A150A(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATGGATTGGCCATGGCAGGAA	0.418																																							uc001sqs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(448-450)GCC>GCT		solute carrier family 16, member 7	Pyruvic acid(DB00119)						77.0	76.0	77.0					12																	60168526		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168526C>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.450C>T	12.37:g.60168526C>T						SLC16A7_uc001sqt.2_Silent_p.A150A|SLC16A7_uc001squ.2_Silent_p.A150A|SLC16A7_uc009zqi.2_Silent_p.A51A|SLC16A7_uc010ssi.1_Silent_p.A51A	p.A150A	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	749	+			150			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.450C>T	CCDS8961.1																																																																																				0.418	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		27	45	0	0	0	0.003954	0	27	45				
FRS2	10818	broad.mit.edu	37	12	69968531	69968531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:69968531G>T	ENST00000550389.1	+	7	1569	c.1323G>T	c.(1321-1323)ttG>ttT	p.L441F	FRS2_ENST00000397997.2_Missense_Mutation_p.L441F|FRS2_ENST00000299293.2_Missense_Mutation_p.L441F|FRS2_ENST00000549921.1_Missense_Mutation_p.L441F	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	441					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L441F(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGTTGACTTGGAAGGTGGCA	0.483																																							uc001suy.2		NA																	2	Substitution - Missense(2)		lung(2)	prostate(1)|kidney(1)	2						c.(1321-1323)TTG>TTT		fibroblast growth factor receptor substrate 2							76.0	82.0	80.0					12																	69968531		2082	4219	6301	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968531G>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1323G>T	12.37:g.69968531G>T	ENSP00000447241:p.Leu441Phe					FRS2_uc001suz.2_Missense_Mutation_p.L441F|FRS2_uc009zrj.2_Missense_Mutation_p.L441F|FRS2_uc009zrk.2_Missense_Mutation_p.L441F	p.L441F	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1833	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		441					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1323G>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692286	0.48202	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	6.17	6.17	0.99709	.	0.104529	0.64402	D	0.000004	T	0.44808	0.1311	L	0.49778	1.585	0.52501	D	0.999954	D	0.54207	0.965	P	0.47864	0.559	T	0.08086	-1.0739	9	.	.	.	-11.2954	20.8794	0.99867	0.0:0.0:1.0:0.0	.	441	Q8WU20	FRS2_HUMAN	F	441	ENSP00000299293:L441F;ENSP00000450048:L441F;ENSP00000447241:L441F;ENSP00000381083:L441F	.	L	+	3	2	FRS2	68254798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.923000	0.87546	2.941000	0.99782	0.655000	0.94253	TTG		0.483	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		21	41	1	0	3.08376e-08	0.00333	4.15849e-08	21	41				
LRRC10	376132	broad.mit.edu	37	12	70004436	70004436	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:70004436G>T	ENST00000361484.3	-	1	506	c.183C>A	c.(181-183)gaC>gaA	p.D61E		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	61					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)		p.D61E(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGAGGTGGTTGTCGCTCAGGT	0.587																																							uc001svc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GAC>GAA		leucine rich repeat containing 10							57.0	52.0	54.0					12																	70004436		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004436G>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.183C>A	12.37:g.70004436G>T	ENSP00000355166:p.Asp61Glu						p.D61E	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	507	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		61			LRR 1.		Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.183C>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915146	0.92178	.	.	ENSG00000198812	ENST00000361484	T	0.09350	2.99	5.62	5.62	0.85841	.	0.086089	0.85682	D	0.000000	T	0.17195	0.0413	L	0.35644	1.08	0.58432	D	0.999999	P	0.43938	0.822	P	0.48488	0.579	T	0.00657	-1.1623	10	0.32370	T	0.25	.	20.0275	0.97527	0.0:0.0:1.0:0.0	.	61	Q5BKY1	LRC10_HUMAN	E	61	ENSP00000355166:D61E	ENSP00000355166:D61E	D	-	3	2	LRRC10	68290703	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.671000	0.68095	2.811000	0.96726	0.555000	0.69702	GAC		0.587	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		14	24	1	0	4.7546e-09	0.004007	6.62633e-09	14	24				
PTPRR	5801	broad.mit.edu	37	12	71094917	71094917	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:71094917C>T	ENST00000283228.2	-	7	1646	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	PTPRR_ENST00000342084.4_Splice_Site_p.M286I|PTPRR_ENST00000378778.1_Splice_Site_p.M192I|PTPRR_ENST00000440835.2_Splice_Site_p.M153I|PTPRR_ENST00000549308.1_Splice_Site_p.M153I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	398	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.M398I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAAGGCTCACCATGAATTCAC	0.443																																							uc001swi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1192-1194)ATG>ATA		protein tyrosine phosphatase, receptor type, R							109.0	104.0	106.0					12																	71094917		2203	4300	6503	SO:0001630	splice_region_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71094917C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1194+1G>A	12.37:g.71094917C>T						PTPRR_uc001swh.1_Missense_Mutation_p.M153I|PTPRR_uc009zrs.2_Missense_Mutation_p.M247I|PTPRR_uc010stq.1_Missense_Mutation_p.M286I|PTPRR_uc010str.1_Missense_Mutation_p.M247I	p.M398I	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1610	-			398			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1194G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877473	0.33162	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.46	5.46	0.80206	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000004	T	0.30386	0.0763	L	0.39898	1.24	0.47511	D	0.999442	B;B;P;B	0.35807	0.387;0.21;0.522;0.387	B;B;B;B	0.36885	0.06;0.073;0.235;0.088	T	0.02365	-1.1170	9	.	.	.	-27.1526	19.6754	0.95930	0.0:1.0:0.0:0.0	.	247;286;192;398	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	I	153;398;192;286;153;153	ENSP00000391750:M153I;ENSP00000283228:M398I;ENSP00000368054:M192I;ENSP00000339605:M286I;ENSP00000446943:M153I;ENSP00000449616:M153I	.	M	-	3	0	PTPRR	69381184	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.686000	0.54685	2.724000	0.93272	0.462000	0.41574	ATG		0.443	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	Missense_Mutation	24	63	0	0	0	0.00333	0	24	63				
METTL25	84190	broad.mit.edu	37	12	82824732	82824732	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:82824732G>T	ENST00000248306.3	+	6	1409	c.1340G>T	c.(1339-1341)tGc>tTc	p.C447F	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	447							methyltransferase activity (GO:0008168)	p.C447F(1)									GAGAGATGGTGCTGTGGTCGT	0.368																																							uc001szq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)TGC>TTC		hypothetical protein LOC84190							247.0	230.0	235.0					12																	82824732		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82824732G>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1340G>T	12.37:g.82824732G>T	ENSP00000248306:p.Cys447Phe						p.C447F	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			6	1361	+			447					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.1340G>T	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	2.311	-0.358012	0.05138	.	.	ENSG00000127720	ENST00000248306;ENST00000550298	T	0.28454	1.61	5.67	3.82	0.43975	.	0.099352	0.64402	D	0.000001	T	0.13841	0.0335	N	0.08118	0	0.39905	D	0.973955	B	0.09022	0.002	B	0.06405	0.002	T	0.09185	-1.0686	10	0.09590	T	0.72	-1.9412	10.4963	0.44778	0.0:0.1234:0.4959:0.3807	.	447	Q8N6Q8	CL026_HUMAN	F	447;82	ENSP00000248306:C447F	ENSP00000248306:C447F	C	+	2	0	C12orf26	81348863	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	1.107000	0.31110	0.830000	0.34757	0.585000	0.79938	TGC		0.368	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		7	124	1	0	0.00307968	0.00308	0.0033804	7	124				
LRRIQ1	84125	broad.mit.edu	37	12	85626515	85626515	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:85626515G>A	ENST00000393217.2	+	26	5058	c.4997G>A	c.(4996-4998)gGt>gAt	p.G1666D	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1666								p.G1666D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTACTTAATGGTGGAAGAGTT	0.318																																							uc001tac.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4996-4998)GGT>GAT		leucine-rich repeats and IQ motif containing 1							127.0	115.0	119.0					12																	85626515		1853	4088	5941	SO:0001583	missense	84125							g.chr12:85626515G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4997G>A	12.37:g.85626515G>A	ENSP00000376910:p.Gly1666Asp						p.G1666D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	26	5108	+			1666					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4997G>A	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.864422|2.864422	0.51482|0.51482	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.79352|.	-1.26|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|.	.|.	.|.	.|.	T|T	0.39809|0.39809	0.1092|0.1092	N|N	0.24115|0.24115	0.695|0.695	0.31610|0.31610	N|N	0.651669|0.651669	D|.	0.76494|.	0.999|.	D|.	0.75484|.	0.986|.	T|T	0.42832|0.42832	-0.9428|-0.9428	9|5	0.72032|.	D|.	0.01|.	.|.	11.8305|11.8305	0.52293|0.52293	0.0838:0.0:0.9162:0.0|0.0838:0.0:0.9162:0.0	.|.	1666|.	Q96JM4|.	LRIQ1_HUMAN|.	D|M	1666|87	ENSP00000376910:G1666D|.	ENSP00000376910:G1666D|.	G|V	+|+	2|1	0|0	LRRIQ1|LRRIQ1	84150646|84150646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.163000|3.163000	0.50763|0.50763	2.624000|2.624000	0.88883|0.88883	0.650000|0.650000	0.86243|0.86243	GGT|GTG		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		7	45	0	0	0	0.004482	0	7	45				
UBE2N	7334	broad.mit.edu	37	12	93804897	93804897	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:93804897C>A	ENST00000318066.2	-	2	586	c.209G>T	c.(208-210)cGt>cTt	p.R70L	UBE2N_ENST00000550657.1_Missense_Mutation_p.R70L|UBE2N_ENST00000549833.1_Missense_Mutation_p.R7L|UBE2N_ENST00000552442.1_Missense_Mutation_p.R70L	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	70					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.R70L(1)		endometrium(3)|liver(2)|lung(5)	10						GGTCATGAAACGTACTTTAGG	0.388								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)	Pancreas(197;738 2228 30225 32034 33454)	uc001tcp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(208-210)CGT>CTT	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2N							95.0	95.0	95.0					12																	93804897		2203	4300	6503	SO:0001583	missense	7334				DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity	g.chr12:93804897C>A	D83004	CCDS31875.1	12q22	2011-05-19	2011-05-19			ENSG00000177889		"""Ubiquitin-conjugating enzymes E2"""	12492	protein-coding gene	gene with protein product		603679	"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""			8902611	Standard	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	P61088	OTTHUMG00000170156	ENST00000318066.2:c.209G>T	12.37:g.93804897C>A	ENSP00000316176:p.Arg70Leu						p.R70L	NM_003348	NP_003339	P61088	UBE2N_HUMAN			2	575	-			70					Q16781|Q53Y81	Missense_Mutation	SNP	ENST00000318066.2	37	c.209G>T	CCDS31875.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931681	0.73442	.	.	ENSG00000177889	ENST00000318066;ENST00000550657;ENST00000549833;ENST00000552442	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.94	5.94	0.96194	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.43747	U	0.000536	T	0.79724	0.4495	M	0.67625	2.065	0.80722	D	1	P	0.51653	0.947	P	0.52189	0.692	T	0.80641	-0.1292	10	0.72032	D	0.01	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	70	P61088	UBE2N_HUMAN	L	70;70;7;70	ENSP00000316176:R70L;ENSP00000449352:R70L;ENSP00000450260:R7L;ENSP00000448352:R70L	ENSP00000316176:R70L	R	-	2	0	UBE2N	92329028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.934000	0.70138	2.820000	0.97059	0.650000	0.86243	CGT		0.388	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1	NM_003348		43	63	1	0	8.20599e-20	0.002852	1.40883e-19	43	63				
VEZT	55591	broad.mit.edu	37	12	95660204	95660205	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:95660204_95660205GG>TT	ENST00000436874.1	+	5	611_612	c.506_507GG>TT	c.(505-507)tGG>tTT	p.W169F	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.W121F	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	169				W -> R (in Ref. 2; AAG38485). {ECO:0000305}.	chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.W169F(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTGTCTTCCTGGCTGGTATGGG	0.421																																							uc001tdz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(505-507)TGG>TTT		vezatin, adherens junctions transmembrane																																				SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660204_95660205GG>TT	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	Exception_encountered	12.37:g.95660204_95660205delinsTT	ENSP00000410083:p.Trp169Phe					VEZT_uc009zsy.1_Missense_Mutation_p.W11F|VEZT_uc001tdr.2_Missense_Mutation_p.W11F|VEZT_uc001tds.2_Missense_Mutation_p.W121F|VEZT_uc001tdt.2_Missense_Mutation_p.W121F|VEZT_uc009zsz.1_Missense_Mutation_p.W169F|VEZT_uc001tdv.2_Missense_Mutation_p.W138F|VEZT_uc001tdw.1_Missense_Mutation_p.W121F|VEZT_uc009zta.1_Missense_Mutation_p.W121F	p.W169F	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			5	611_612	+			169	W -> R (in Ref. 2; AAG38485).		Helical; (Potential).		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	DNP	ENST00000436874.1	37	c.506_507GG>TT	CCDS44954.1																																																																																				0.421	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		172	233	0	0	0	0.004672	0	172	233				
ANO4	121601	broad.mit.edu	37	12	101505439	101505439	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:101505439T>A	ENST00000392977.3	+	24	2611	c.2401T>A	c.(2401-2403)Tat>Aat	p.Y801N	ANO4_ENST00000299222.9_Missense_Mutation_p.Y321N|ANO4_ENST00000392979.3_Missense_Mutation_p.Y766N|ANO4_ENST00000550015.1_Missense_Mutation_p.Y321N			Q32M45	ANO4_HUMAN	anoctamin 4	801					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.Y766N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCGCTTGGTGTATGCTTATAA	0.383										HNSCC(74;0.22)																													uc010svm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2401-2403)TAT>AAT		anoctamin 4							123.0	110.0	115.0					12																	101505439		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101505439T>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2401T>A	12.37:g.101505439T>A	ENSP00000376703:p.Tyr801Asn	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.Y766N|ANO4_uc001thx.2_Missense_Mutation_p.Y801N|ANO4_uc001thy.2_Missense_Mutation_p.Y321N	p.Y801N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			24	2973	+			801			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2401T>A		.	.	.	.	.	.	.	.	.	.	T	24.9	4.579889	0.86645	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	D;T;D;T	0.83163	-1.64;-1.29;-1.69;-1.29	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	D	0.93413	0.7899	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94956	0.8104	10	0.87932	D	0	.	16.1303	0.81428	0.0:0.0:0.0:1.0	.	321;801;766	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	N	766;321;801;321	ENSP00000376705:Y766N;ENSP00000299222:Y321N;ENSP00000376703:Y801N;ENSP00000450192:Y321N	ENSP00000299222:Y321N	Y	+	1	0	ANO4	100029570	1.000000	0.71417	0.970000	0.41538	0.853000	0.48598	8.040000	0.89188	2.218000	0.71995	0.533000	0.62120	TAT		0.383	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		9	55	0	0	0	0.000978	0	9	55				
PAH	5053	broad.mit.edu	37	12	103249050	103249050	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:103249050C>G	ENST00000553106.1	-	6	1042	c.570G>C	c.(568-570)gtG>gtC	p.V190V	PAH_ENST00000307000.2_Silent_p.V185V|PAH_ENST00000551988.1_5'Flank	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	190			V -> A (in PKU; haplotype 3). {ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:9452062}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.V190V(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGTCTTGAACACTGTGCCCC	0.438																																							uc001tjq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(568-570)GTG>GTC		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						124.0	116.0	119.0					12																	103249050		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103249050C>G	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.570G>C	12.37:g.103249050C>G						PAH_uc010swc.1_Silent_p.V190V	p.V190V	NM_000277	NP_000268	P00439	PH4H_HUMAN			7	1042	-			190		V -> A (in PKU; haplotype 3).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.570G>C	CCDS9092.1																																																																																				0.438	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			17	32	0	0	0	0.004007	0	17	32				
CMKLR1	1240	broad.mit.edu	37	12	108686144	108686144	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:108686144C>A	ENST00000312143.7	-	3	959	c.596G>T	c.(595-597)gGg>gTg	p.G199V	CMKLR1_ENST00000550402.1_Missense_Mutation_p.G199V|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G199V|CMKLR1_ENST00000552995.1_Missense_Mutation_p.G197V|CMKLR1_ENST00000397688.2_Missense_Mutation_p.G197V	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	199					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.G197V(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CGAGGAAGACCCAGGTGTGGA	0.567																																							uc009zuw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(595-597)GGG>GTG		chemokine-like receptor 1 isoform a							66.0	69.0	68.0					12																	108686144		2097	4214	6311	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686144C>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.596G>T	12.37:g.108686144C>A	ENSP00000311733:p.Gly199Val					CMKLR1_uc001tmw.2_Missense_Mutation_p.G199V|CMKLR1_uc001tmv.2_Missense_Mutation_p.G197V|CMKLR1_uc009zuv.2_Missense_Mutation_p.G199V	p.G199V	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	787	-			199			Extracellular (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.596G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	0.027	-1.361453	0.01235	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.46	-10.9	0.00192	GPCR, rhodopsin-like superfamily (1);	4.017440	0.00834	N	0.001680	T	0.14700	0.0355	N	0.16656	0.425	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.12426	-1.0548	10	0.16420	T	0.52	.	1.891	0.03248	0.1649:0.1811:0.3494:0.3047	.	199	Q99788	CML1_HUMAN	V	199;199;197;197;199	ENSP00000311733:G199V;ENSP00000401293:G199V;ENSP00000380803:G197V;ENSP00000447579:G197V;ENSP00000449716:G199V	ENSP00000311733:G199V	G	-	2	0	CMKLR1	107210274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.275000	0.01162	-1.443000	0.01953	-0.273000	0.10243	GGG		0.567	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			18	34	1	0	3.32936e-07	0.006122	4.27981e-07	18	34				
SVOP	55530	broad.mit.edu	37	12	109316512	109316512	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:109316512C>G	ENST00000299134.5	-	10	913	c.914G>C	c.(913-915)aGg>aCg	p.R305T		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						TGTAATCCTCCTCACTCAGGT	0.547																																							uc010sxh.1		NA																	0					0						c.(1108-1110)GAG>GAC		SV2 related protein							91.0	91.0	91.0					12																	109316512		2047	4187	6234	SO:0001583	missense	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109316512C>G	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.914G>C	12.37:g.109316512C>G	ENSP00000299134:p.Arg305Thr						p.E370D	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			11	1282	-			370			Vesicular (Potential).		Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37	c.1110G>C		.	.	.	.	.	.	.	.	.	.	C	9.721	1.159796	0.21454	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.64	2.25	0.28309	.	.	.	.	.	T	0.23133	0.0559	N	0.13198	0.31	.	.	.	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-11.7114	4.8209	0.13390	0.1401:0.5836:0.0:0.2762	.	.	.	.	T	305	.	.	R	-	2	0	SVOP	107840641	0.979000	0.34478	0.996000	0.52242	0.998000	0.95712	0.158000	0.16422	0.482000	0.27582	0.585000	0.79938	AGG		0.547	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		4	4	0	0	0	0.000602	0	4	4				
CCDC63	160762	broad.mit.edu	37	12	111330915	111330915	+	Missense_Mutation	SNP	G	G	C	rs576446060		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:111330915G>C	ENST00000308208.5	+	9	1352	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	CCDC63_ENST00000552694.1_Missense_Mutation_p.L291F|CCDC63_ENST00000545036.1_Missense_Mutation_p.L330F	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	370								p.L370F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGCAGAAATTGTCCCACGATG	0.547																																							uc001trv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(1108-1110)TTG>TTC		coiled-coil domain containing 63							114.0	95.0	102.0					12																	111330915		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111330915G>C	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1110G>C	12.37:g.111330915G>C	ENSP00000312399:p.Leu370Phe					CCDC63_uc010sye.1_Missense_Mutation_p.L330F|CCDC63_uc001trw.1_Missense_Mutation_p.L285F	p.L370F	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			9	1305	+			370			Potential.		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.1110G>C	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.895019	0.33442	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.24350	1.86;1.86;1.86	5.32	-10.6	0.00265	.	1.621970	0.03529	N	0.222148	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	P	0.34977	0.478	B	0.34242	0.178	T	0.25433	-1.0132	10	0.59425	D	0.04	.	1.4123	0.02294	0.1395:0.3166:0.232:0.3119	.	370	Q8NA47	CCD63_HUMAN	F	330;370;291	ENSP00000445881:L330F;ENSP00000312399:L370F;ENSP00000450217:L291F	ENSP00000312399:L370F	L	+	3	2	CCDC63	109815298	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.852000	0.00178	-2.971000	0.00286	-0.658000	0.03865	TTG		0.547	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		34	53	0	0	0	0.004878	0	34	53				
RBM19	9904	broad.mit.edu	37	12	114374902	114374902	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:114374902C>T	ENST00000545145.2	-	16	2056	c.1978G>A	c.(1978-1980)Ggc>Agc	p.G660S	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.G660S|RBM19_ENST00000392561.3_Missense_Mutation_p.G660S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	660					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G660S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAGAAGACGCCAACTGGAGCC	0.542																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1978-1980)GGC>AGC		RNA binding motif protein 19							115.0	115.0	115.0					12																	114374902		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114374902C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1978G>A	12.37:g.114374902C>T	ENSP00000442053:p.Gly660Ser					RBM19_uc001tvn.3_Missense_Mutation_p.G660S|RBM19_uc001tvm.2_Missense_Mutation_p.G660S	p.G660S	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			16	2122	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		660					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1978G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282223	0.40394	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05580	3.42;3.42;3.42	4.8	3.9	0.45041	Nucleotide-binding, alpha-beta plait (1);	0.287055	0.38897	N	0.001538	T	0.07593	0.0191	L	0.58101	1.795	0.36861	D	0.888409	B	0.12013	0.005	B	0.15052	0.012	T	0.11372	-1.0590	10	0.41790	T	0.15	-19.2363	7.2539	0.26164	0.1702:0.7445:0.0:0.0854	.	660	Q9Y4C8	RBM19_HUMAN	S	660	ENSP00000442053:G660S;ENSP00000376344:G660S;ENSP00000261741:G660S	ENSP00000261741:G660S	G	-	1	0	RBM19	112859285	0.828000	0.29307	0.751000	0.31187	0.708000	0.40852	3.302000	0.51849	1.001000	0.39076	-0.182000	0.12963	GGC		0.542	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		18	100	0	0	0	0.008871	0	18	100				
TBX5	6910	broad.mit.edu	37	12	114823367	114823367	+	Silent	SNP	C	C	A	rs376519728		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:114823367C>A	ENST00000310346.4	-	7	1335	c.669G>T	c.(667-669)acG>acT	p.T223T	TBX5_ENST00000526441.1_Silent_p.T223T|TBX5_ENST00000405440.2_Silent_p.T223T|TBX5_ENST00000349716.5_Silent_p.T173T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	223					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T223T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCTTTAATTGCGTGATCTGAA	0.418																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(667-669)ACG>ACT		T-box 5 isoform 1							106.0	94.0	98.0					12																	114823367		2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823367C>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.669G>T	12.37:g.114823367C>A						TBX5_uc001tvp.2_Silent_p.T223T|TBX5_uc001tvq.2_Silent_p.T173T|TBX5_uc010syv.1_Silent_p.T223T	p.T223T	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1164	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		223			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.669G>T	CCDS9173.1																																																																																				0.418	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		7	42	1	0	1.12685e-05	0.004482	1.36427e-05	7	42				
NOS1	4842	broad.mit.edu	37	12	117681140	117681140	+	Missense_Mutation	SNP	C	C	T	rs561693400		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:117681140C>T	ENST00000338101.4	-	19	3030	c.3026G>A	c.(3025-3027)cGc>cAc	p.R1009H	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R975H			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R975H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AAAGGTGAGGCGGAACTTGTT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		22361	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(2923-2925)CGC>CAC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						240.0	231.0	234.0					12																	117681140		2033	4181	6214	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117681140C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3026G>A	12.37:g.117681140C>T	ENSP00000337459:p.Arg1009His						p.R975H	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	19	3610	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		975						Missense_Mutation	SNP	ENST00000338101.4	37	c.2924G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592286	0.86953	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.34472	1.36;1.36	3.59	3.59	0.41128	Riboflavin synthase-like beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69113	-0.5231	10	0.87932	D	0	-26.6994	15.7365	0.77849	0.0:1.0:0.0:0.0	.	975	P29475	NOS1_HUMAN	H	870;975;975;1009	ENSP00000320758:R975H;ENSP00000337459:R1009H	ENSP00000320758:R975H	R	-	2	0	NOS1	116165523	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.611000	0.67674	2.006000	0.58801	0.305000	0.20034	CGC		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			11	80	0	0	0	0.008291	0	11	80				
TAOK3	51347	broad.mit.edu	37	12	118671561	118671561	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:118671561T>C	ENST00000392533.3	-	9	1051	c.561A>G	c.(559-561)ccA>ccG	p.P187P	TAOK3_ENST00000419821.2_Silent_p.P187P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.P187P(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCACCTCTGGAGCCATCC	0.368																																							uc001twx.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|central_nervous_system(1)	6						c.(559-561)CCA>CCG		TAO kinase 3							125.0	109.0	114.0					12																	118671561		2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118671561T>C	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.561A>G	12.37:g.118671561T>C						TAOK3_uc001tww.2_Silent_p.P17P|TAOK3_uc001twy.3_Silent_p.P187P	p.P187P	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			9	856	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		187			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.561A>G	CCDS9188.1																																																																																				0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		23	36	0	0	0	0.00278	0	23	36				
MPHOSPH9	10198	broad.mit.edu	37	12	123679134	123679134	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:123679134T>A	ENST00000606320.1	-	13	2246	c.2040A>T	c.(2038-2040)gaA>gaT	p.E680D	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E528D|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E650D|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E528D			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	680						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E528D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CACTGAAGCGTTCTCTCAAAT	0.373																																							uc001uel.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1582-1584)GAA>GAT		M-phase phosphoprotein 9							95.0	81.0	86.0					12																	123679134		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123679134T>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2040A>T	12.37:g.123679134T>A	ENSP00000475489:p.Glu680Asp					MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	p.E528D	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	9	1691	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		528			Potential.		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1584A>T		.	.	.	.	.	.	.	.	.	.	T	17.29	3.352413	0.61293	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	D;D	0.82255	-1.59;-1.59	5.67	3.2	0.36748	.	0.141721	0.47093	N	0.000258	T	0.76506	0.3997	L	0.55834	1.745	0.41984	D	0.990814	B	0.24043	0.096	B	0.24155	0.051	T	0.67906	-0.5549	10	0.37606	T	0.19	-11.7823	7.7927	0.29129	0.1309:0.0:0.2734:0.5957	.	528	Q99550	MPP9_HUMAN	D	528	ENSP00000303597:E528D;ENSP00000445859:E528D	ENSP00000303597:E528D	E	-	3	2	MPHOSPH9	122245087	0.943000	0.32029	1.000000	0.80357	0.973000	0.67179	-0.136000	0.10405	0.378000	0.24764	0.533000	0.62120	GAA		0.373	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			12	23	0	0	0	0.00245	0	12	23				
SLC15A4	121260	broad.mit.edu	37	12	129294610	129294610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:129294610C>G	ENST00000266771.5	-	3	928	c.889G>C	c.(889-891)Gat>Cat	p.D297H	SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	297					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.D297H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTACATGAATCAAACAGACTT	0.393																																							uc001uhu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GAT>CAT		solute carrier family 15, member 4							125.0	120.0	121.0					12																	129294610		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129294610C>G	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.889G>C	12.37:g.129294610C>G	ENSP00000266771:p.Asp297His					SLC15A4_uc001uhv.2_Intron	p.D297H	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	3	942	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		297					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.889G>C	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171120	0.78452	.	.	ENSG00000139370	ENST00000266771	T	0.04706	3.57	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);	0.045076	0.85682	D	0.000000	T	0.28566	0.0707	M	0.89214	3.015	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.10154	-1.0642	10	0.87932	D	0	.	19.2174	0.93783	0.0:1.0:0.0:0.0	.	297	Q8N697	S15A4_HUMAN	H	297	ENSP00000266771:D297H	ENSP00000266771:D297H	D	-	1	0	SLC15A4	127860563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.449000	0.73473	2.594000	0.87642	0.655000	0.94253	GAT		0.393	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		7	77	0	0	0	0.004482	0	7	77				
GPR133	283383	broad.mit.edu	37	12	131605422	131605422	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:131605422C>T	ENST00000261654.5	+	20	2698	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	GPR133_ENST00000376682.4_Silent_p.I399I|GPR133_ENST00000535015.1_Silent_p.I745I|GPR133_ENST00000543617.1_Silent_p.I232I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	713					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I713I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GTGGCGCCATCTGGGCCTTTG	0.612																																							uc001uit.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(2137-2139)ATC>ATT		G protein-coupled receptor 133 precursor							189.0	144.0	159.0					12																	131605422		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131605422C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2139C>T	12.37:g.131605422C>T						GPR133_uc010tbm.1_Silent_p.I745I|GPR133_uc009zyo.2_Intron|GPR133_uc009zyp.2_RNA	p.I713I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	20	2698	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		713			Helical; Name=5; (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2139C>T	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		15	114	0	0	0	0.003163	0	15	114				
ZNF268	10795	broad.mit.edu	37	12	133768558	133768558	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr12:133768558G>T	ENST00000536435.2	+	5	756	c.426G>T	c.(424-426)gtG>gtT	p.V142V	ZNF268_ENST00000539248.2_Intron|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.C100F|CTD-2140B24.4_ENST00000540096.2_Silent_p.V307V|ZNF268_ENST00000592241.1_Silent_p.V75V|ZNF268_ENST00000542711.2_Missense_Mutation_p.C33F|ZNF268_ENST00000416488.1_Silent_p.V307V|ZNF268_ENST00000541009.2_Silent_p.V142V|ZNF268_ENST00000542986.2_Silent_p.V127V|ZNF268_ENST00000228289.5_Silent_p.V142V|ZNF268_ENST00000536899.2_Intron	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	142	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V142V(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGTATGGTGCAGGCCCAAG	0.398																																							uc010tcf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(424-426)GTG>GTT		zinc finger protein 268 isoform a							148.0	143.0	144.0					12																	133768558		1943	4158	6101	SO:0001819	synonymous_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133768558G>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.426G>T	12.37:g.133768558G>T						ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_Intron|ZNF268_uc010tbx.1_Silent_p.V2V|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_5'UTR|ZNF268_uc010tcb.1_Silent_p.V2V|ZNF268_uc010tcc.1_5'UTR|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Silent_p.V142V	p.V142V	NM_003415	NP_003406	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	756	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	142			KRAB.		Q8TDG8|Q96RH4|Q9BZJ9	Silent	SNP	ENST00000536435.2	37	c.426G>T	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	G	1.931	-0.445901	0.04604	.	.	ENSG00000090612	ENST00000536435;ENST00000542711;ENST00000541211	.	.	.	3.38	-3.91	0.04168	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31447	-0.9943	4	.	.	.	.	4.5501	0.12108	0.5935:0.0:0.2396:0.1669	.	.	.	.	F	100;33;100	.	.	C	+	2	0	ZNF268	132278631	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.636000	0.05465	-0.577000	0.05967	-1.223000	0.01593	TGC		0.398	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		40	96	1	0	2.27781e-18	0.00361	3.87177e-18	40	96				
TUBA3C	7278	broad.mit.edu	37	13	19752452	19752452	+	Nonsense_Mutation	SNP	G	G	T	rs114178008		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:19752452G>T	ENST00000400113.3	-	3	413	c.309C>A	c.(307-309)taC>taA	p.Y103*		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527																																							uc009zzj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(307-309)TAC>TAA		tubulin, alpha 3c							210.0	177.0	188.0					13																	19752452		2203	4300	6503	SO:0001587	stop_gained	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752452G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.309C>A	13.37:g.19752452G>T	ENSP00000382982:p.Tyr103*						p.Y103*	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	358	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	103					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Nonsense_Mutation	SNP	ENST00000400113.3	37	c.309C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	19.86	3.904939	0.72868	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	.	.	.	1.53	-3.05	0.05396	.	0.000000	0.44483	U	0.000448	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6726	0.28468	0.5753:0.0:0.4247:0.0	.	.	.	.	X	103	.	ENSP00000354037:Y103X	Y	-	3	2	TUBA3C	18650452	0.047000	0.20315	0.939000	0.37840	0.908000	0.53690	-0.944000	0.03913	-1.325000	0.02269	-1.528000	0.00924	TAC		0.527	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		15	131	1	0	3.27435e-08	0.00245	4.40009e-08	15	131				
SKA3	221150	broad.mit.edu	37	13	21742417	21742417	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:21742417C>A	ENST00000314759.5	-	4	577	c.453G>T	c.(451-453)aaG>aaT	p.K151N	SKA3_ENST00000400018.3_Missense_Mutation_p.K151N	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	151					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.K151N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TACGTGGAGACTTCTCAGAAA	0.428																																							uc001unt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(451-453)AAG>AAT		SKA3							110.0	114.0	113.0					13																	21742417		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21742417C>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.453G>T	13.37:g.21742417C>A	ENSP00000319417:p.Lys151Asn					SKA3_uc001unv.2_Missense_Mutation_p.K69N|SKA3_uc001unu.2_Missense_Mutation_p.K151N	p.K151N	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN			4	547	-			151					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.453G>T	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130995	0.37630	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.24151	1.87;1.87	5.88	0.925	0.19424	.	0.307861	0.37304	N	0.002158	T	0.14570	0.0352	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.019;0.01	B;B	0.15052	0.012;0.008	T	0.17018	-1.0383	10	0.22109	T	0.4	0.4101	0.4287	0.00468	0.2437:0.3361:0.1697:0.2504	.	151;151	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	N	151	ENSP00000319417:K151N;ENSP00000382896:K151N	ENSP00000319417:K151N	K	-	3	2	SKA3	20640417	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-1.331000	0.02672	0.094000	0.17404	0.655000	0.94253	AAG		0.428	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		18	128	1	0	3.52763e-06	0.00499	4.3565e-06	18	128				
SACS	26278	broad.mit.edu	37	13	23906719	23906719	+	Missense_Mutation	SNP	C	C	A	rs200930332		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:23906719C>A	ENST00000382292.3	-	9	11569	c.11296G>T	c.(11296-11298)Gta>Tta	p.V3766L	SACS_ENST00000402364.1_Missense_Mutation_p.V3016L|SACS_ENST00000382298.3_Missense_Mutation_p.V3766L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3766					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V3766L(1)|p.V3619L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAGTTTTTACCATTTCTTCA	0.363																																							uc001uon.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(11296-11298)GTA>TTA		sacsin							127.0	103.0	111.0					13																	23906719		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906719C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11296G>T	13.37:g.23906719C>A	ENSP00000371729:p.Val3766Leu					SACS_uc001uoo.2_Missense_Mutation_p.V3619L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.V3766L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11885	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3766					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11296G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401521	0.62288	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.11;-2.27;-2.11	5.58	5.58	0.84498	.	0.064926	0.64402	D	0.000009	D	0.82669	0.5087	N	0.16368	0.405	0.41343	D	0.987317	D	0.54207	0.965	P	0.52758	0.708	T	0.79652	-0.1714	10	0.18710	T	0.47	.	12.8548	0.57880	0.0:0.9255:0.0:0.0745	.	3766	Q9NZJ4	SACS_HUMAN	L	3766;3016;3766	ENSP00000371729:V3766L;ENSP00000385844:V3016L;ENSP00000371735:V3766L	ENSP00000371729:V3766L	V	-	1	0	SACS	22804719	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.897000	0.63231	2.619000	0.88677	0.563000	0.77884	GTA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		11	47	1	0	1.58986e-06	0.008291	2.00195e-06	11	47				
PABPC3	5042	broad.mit.edu	37	13	25671349	25671349	+	Missense_Mutation	SNP	T	T	A	rs188787435	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:25671349T>A	ENST00000281589.3	+	1	1050	c.1013T>A	c.(1012-1014)gTa>gAa	p.V338E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	338	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.V338E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTGGTTTTGTATGTTTCTCC	0.438													t|||	2	0.000399361	0.0	0.0	5008	,	,		23460	0.002		0.0	False		,,,				2504	0.0						uc001upy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1012-1014)GTA>GAA		poly(A) binding protein, cytoplasmic 3							136.0	133.0	134.0					13																	25671349		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671349T>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1013T>A	13.37:g.25671349T>A	ENSP00000281589:p.Val338Glu						p.V338E	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1074	+		Lung SC(185;0.0225)|Breast(139;0.0602)	338			RRM 4.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1013T>A	CCDS9311.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	13.99	2.401068	0.42613	.	.	ENSG00000151846	ENST00000281589	T	0.39229	1.09	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.42172	U	0.000744	T	0.69151	0.3079	H	0.97051	3.93	0.58432	D	0.999997	D	0.89917	1.0	D	0.79784	0.993	T	0.69394	-0.5157	10	0.66056	D	0.02	.	5.8995	0.18957	0.0:0.0:0.0:1.0	.	338	Q9H361	PABP3_HUMAN	E	338	ENSP00000281589:V338E	ENSP00000281589:V338E	V	+	2	0	PABPC3	24569349	1.000000	0.71417	0.625000	0.29200	0.606000	0.37113	5.454000	0.66651	0.632000	0.30432	0.260000	0.18958	GTA		0.438	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		43	152	0	0	0	0.002852	0	43	152				
MAB21L1	4081	broad.mit.edu	37	13	36049377	36049377	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:36049377A>G	ENST00000379919.4	-	1	1455	c.899T>C	c.(898-900)cTg>cCg	p.L300P	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	300					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.L300P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AATCCCGTTCAGCCGATCACC	0.517																																							uc001uvc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(898-900)CTG>CCG		mab-21-like protein 1							109.0	95.0	100.0					13																	36049377		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049377A>G	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.899T>C	13.37:g.36049377A>G	ENSP00000369251:p.Leu300Pro					NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.L300P	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1456	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	300					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.899T>C	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601395	0.66445	.	.	ENSG00000180660	ENST00000379919	T	0.15603	2.41	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.60455	1.87	0.80722	D	1	D	0.60575	0.988	D	0.67725	0.953	T	0.11665	-1.0578	10	0.87932	D	0	-44.4903	16.0659	0.80870	1.0:0.0:0.0:0.0	.	300	Q13394	MB211_HUMAN	P	300	ENSP00000369251:L300P	ENSP00000369251:L300P	L	-	2	0	MAB21L1	34947377	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.339000	0.96797	2.209000	0.71365	0.533000	0.62120	CTG		0.517	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		13	75	0	0	0	0.00245	0	13	75				
CCNA1	8900	broad.mit.edu	37	13	37012875	37012875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:37012875G>T	ENST00000255465.4	+	5	1028	c.764G>T	c.(763-765)gGg>gTg	p.G255V	CCNA1_ENST00000449823.1_Missense_Mutation_p.G211V|CCNA1_ENST00000418263.1_Missense_Mutation_p.G254V|CCNA1_ENST00000440264.1_Missense_Mutation_p.G211V			P78396	CCNA1_HUMAN	cyclin A1	255					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.G255V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGGAGGTTGGGGAAGAATAT	0.502																																							uc001uvr.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(763-765)GGG>GTG		cyclin A1 isoform a							125.0	108.0	114.0					13																	37012875		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012875G>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.764G>T	13.37:g.37012875G>T	ENSP00000255465:p.Gly255Val					CCNA1_uc010teo.1_Missense_Mutation_p.G211V|CCNA1_uc010abq.2_Missense_Mutation_p.G211V|CCNA1_uc010abp.2_Missense_Mutation_p.G211V|CCNA1_uc001uvs.3_Missense_Mutation_p.G254V|CCNA1_uc010abr.2_Intron	p.G255V	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	5	1114	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	255					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.764G>T	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992248	0.35131	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.33	3.56	0.40772	Cyclin, N-terminal (2);Cyclin-like (3);	0.263814	0.42682	D	0.000668	T	0.13670	0.0331	N	0.10685	0.025	0.32361	N	0.557109	P;P	0.45672	0.631;0.864	P;P	0.49665	0.589;0.618	T	0.10706	-1.0618	10	0.66056	D	0.02	.	10.8758	0.46911	0.0708:0.1312:0.7981:0.0	.	254;255	P78396-2;P78396	.;CCNA1_HUMAN	V	211;211;254;255	ENSP00000400666:G211V;ENSP00000409873:G211V;ENSP00000396479:G254V;ENSP00000255465:G255V	ENSP00000255465:G255V	G	+	2	0	CCNA1	35910875	0.999000	0.42202	0.003000	0.11579	0.658000	0.38924	2.753000	0.47524	0.703000	0.31848	0.650000	0.86243	GGG		0.502	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		8	57	1	0	1.26484e-09	0.00308	1.79361e-09	8	57				
POSTN	10631	broad.mit.edu	37	13	38154834	38154834	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:38154834C>A	ENST00000379747.4	-	11	1510	c.1393G>T	c.(1393-1395)Gct>Tct	p.A465S	POSTN_ENST00000541481.1_Splice_Site_p.A465S|POSTN_ENST00000541179.1_Splice_Site_p.A465S|POSTN_ENST00000379749.4_Splice_Site_p.A465S|POSTN_ENST00000379742.4_Splice_Site_p.A465S|POSTN_ENST00000379743.4_Splice_Site_p.A465S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	465	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.A465S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGCAGACAGCCTAGGAAAGG	0.438																																							uc001uwo.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1393-1395)GCT>TCT		periostin, osteoblast specific factor isoform 1							178.0	166.0	170.0					13																	38154834		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154834C>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1393-1G>T	13.37:g.38154834C>A						POSTN_uc010tet.1_5'UTR|POSTN_uc001uwp.3_Missense_Mutation_p.A465S|POSTN_uc001uwr.2_Missense_Mutation_p.A465S|POSTN_uc001uwq.2_Missense_Mutation_p.A465S|POSTN_uc010teu.1_Missense_Mutation_p.A465S|POSTN_uc010tev.1_Missense_Mutation_p.A465S|POSTN_uc010tew.1_Missense_Mutation_p.A465S|POSTN_uc010tex.1_Missense_Mutation_p.A380S	p.A465S	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	11	1511	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	465			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1393G>T	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560992	0.27827	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.03	2.24	0.28232	FAS1 domain (5);	0.101398	0.64402	N	0.000002	D	0.83330	0.5231	L	0.41573	1.285	0.48632	D	0.999681	B;B;B;B;B;B;B	0.21381	0.021;0.002;0.055;0.007;0.003;0.002;0.055	B;B;B;B;B;B;B	0.29785	0.033;0.007;0.107;0.009;0.005;0.007;0.107	T	0.71397	-0.4605	10	0.09843	T	0.71	-6.4905	14.1557	0.65417	0.3847:0.6153:0.0:0.0	.	465;465;465;465;465;465;465	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	S	465	ENSP00000437959:A465S;ENSP00000369073:A465S;ENSP00000369071:A465S;ENSP00000369067:A465S;ENSP00000369066:A465S;ENSP00000437953:A465S	ENSP00000369066:A465S	A	-	1	0	POSTN	37052834	1.000000	0.71417	0.998000	0.56505	0.643000	0.38383	3.574000	0.53863	0.194000	0.20326	-0.261000	0.10672	GCT		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Missense_Mutation	28	92	1	0	1.7367e-05	0.00632	2.07972e-05	28	92				
LHFP	10186	broad.mit.edu	37	13	40174972	40174972	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:40174972C>A	ENST00000379589.3	-	2	844	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	128						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.G128W(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CACTTACCCCCAAGAAACTGA	0.473			T	HMGA2	lipoma																																		uc001uxf.2		NA		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|lung(1)|breast(1)	4						c.(382-384)GGG>TGG		lipoma HMGIC fusion partner precursor							94.0	100.0	98.0					13																	40174972		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:40174972C>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.382G>T	13.37:g.40174972C>A	ENSP00000368908:p.Gly128Trp						p.G128W	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	893	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	128			Helical; (Potential).		B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.382G>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362182	0.41902	.	.	ENSG00000183722	ENST00000379589	T	0.73363	-0.74	5.43	4.59	0.56863	.	0.076431	0.53938	D	0.000043	D	0.84647	0.5518	M	0.77820	2.39	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	D	0.85408	0.1135	9	.	.	.	.	13.2984	0.60311	0.0:0.9236:0.0:0.0764	.	128	Q9Y693	LHFP_HUMAN	W	128	ENSP00000368908:G128W	.	G	-	1	0	LHFP	39072972	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	7.409000	0.80053	1.300000	0.44818	-0.145000	0.13849	GGG		0.473	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		24	87	1	0	2.44723e-14	0.004656	3.90543e-14	24	87				
KBTBD6	89890	broad.mit.edu	37	13	41705439	41705439	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:41705439T>C	ENST00000379485.1	-	1	1443	c.1209A>G	c.(1207-1209)acA>acG	p.T403T	KBTBD6_ENST00000499385.2_Silent_p.T337T	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403T(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCCAGAGGTCTGTCCTGGGCT	0.502																																							uc001uxu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1207-1209)ACA>ACG		kelch repeat and BTB (POZ) domain-containing 6							112.0	104.0	107.0					13																	41705439		2203	4300	6503	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41705439T>C	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1209A>G	13.37:g.41705439T>C						KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.T337T|uc001uxv.1_5'Flank	p.T403T	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1498	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403			Kelch 1.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.1209A>G	CCDS9376.1																																																																																				0.502	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		6	121	0	0	0	0.001984	0	6	121				
HTR2A	3356	broad.mit.edu	37	13	47409239	47409239	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:47409239G>A	ENST00000378688.4	-	3	1280	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	HTR2A_ENST00000543956.1_Silent_p.F299F|HTR2A_ENST00000542664.1_Silent_p.F383F			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	383					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F383F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGTCTTGTTGAACAGTGTGT	0.423																																							uc001vbq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1147-1149)TTC>TTT		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						117.0	112.0	114.0					13																	47409239		2203	4300	6503	SO:0001819	synonymous_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409239G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1149C>T	13.37:g.47409239G>A						HTR2A_uc001vbr.2_Silent_p.F283F|HTR2A_uc010acr.2_Silent_p.F383F	p.F383F	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1283	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	383			Helical; Name=7; (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	c.1149C>T	CCDS9405.1																																																																																				0.423	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		5	76	0	0	0	0.000602	0	5	76				
FNDC3A	22862	broad.mit.edu	37	13	49777385	49777385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:49777385C>T	ENST00000492622.2	+	25	3552	c.3247C>T	c.(3247-3249)Caa>Taa	p.Q1083*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Q1027*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Q1083*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1083	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.Q1083*(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTACAGTCTTCAAGTTATGTT	0.323																																							uc001vcm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)	2						c.(3247-3249)CAA>TAA		fibronectin type III domain containing 3A							125.0	124.0	124.0					13																	49777385		2202	4298	6500	SO:0001587	stop_gained	22862					Golgi membrane|integral to membrane		g.chr13:49777385C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3247C>T	13.37:g.49777385C>T	ENSP00000417257:p.Gln1083*					FNDC3A_uc001vcn.2_Nonsense_Mutation_p.Q1083*|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Nonsense_Mutation_p.Q1027*	p.Q1083*	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	25	3552	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1083			Fibronectin type-III 9.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Nonsense_Mutation	SNP	ENST00000492622.2	37	c.3247C>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	40	8.486389	0.98832	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.2535	18.9873	0.92777	0.0:1.0:0.0:0.0	.	.	.	.	X	1083;1019;1083;1027	.	ENSP00000338579:Q1019X	Q	+	1	0	FNDC3A	48675386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.440000	0.80464	2.724000	0.93272	0.655000	0.94253	CAA		0.323	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		7	81	0	0	0	0.004482	0	7	81				
CAB39L	81617	broad.mit.edu	37	13	49951249	49951249	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:49951249T>C	ENST00000355854.4	-	3	627	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	CAB39L_ENST00000410043.1_Missense_Mutation_p.K44E|CAB39L_ENST00000409308.1_Missense_Mutation_p.K44E|CAB39L_ENST00000347776.5_Missense_Mutation_p.K44E	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	44					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.K44E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGCAGTGATTTAGACACTTCT	0.393																																							uc001vcw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)AAA>GAA		calcium binding protein 39-like							104.0	105.0	105.0					13																	49951249		2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49951249T>C	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.130A>G	13.37:g.49951249T>C	ENSP00000348113:p.Lys44Glu					CAB39L_uc001vcx.2_Missense_Mutation_p.K44E|CAB39L_uc010adf.2_Missense_Mutation_p.K41E	p.K44E	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	3	628	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	44					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.130A>G	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	T	33	5.225816	0.95173	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041;ENST00000413278;ENST00000409082	T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	H	0.95539	3.685	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	T	0.79490	-0.1782	9	.	.	.	-21.9374	14.8412	0.70226	0.0:0.0:0.0:1.0	.	44	Q9H9S4	CB39L_HUMAN	E	44;44;41;44;7;44;44;44;44	ENSP00000348113:K44E;ENSP00000261669:K44E;ENSP00000386375:K44E;ENSP00000416719:K7E;ENSP00000386328:K44E;ENSP00000409253:K44E;ENSP00000404028:K44E;ENSP00000386979:K44E	.	K	-	1	0	CAB39L	48849250	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	7.953000	0.87836	2.098000	0.63641	0.528000	0.53228	AAA		0.393	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		15	62	0	0	0	0.003163	0	15	62				
ATP7B	540	broad.mit.edu	37	13	52520526	52520526	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:52520526C>A	ENST00000242839.4	-	13	3110	c.2954G>T	c.(2953-2955)tGc>tTc	p.C985F	ATP7B_ENST00000417240.2_Missense_Mutation_p.C257F|ATP7B_ENST00000400366.3_Missense_Mutation_p.C874F|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.C778F|ATP7B_ENST00000448424.2_Missense_Mutation_p.C907F|ATP7B_ENST00000400370.3_Missense_Mutation_p.C555F|ATP7B_ENST00000418097.2_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	985			C -> Y (in WD). {ECO:0000269|PubMed:10447265}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.C985F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCCCAGGGAGCAGGGGCAGGC	0.627									Wilson disease																														uc001vfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3	GRCh37	CM990275	ATP7B	M		c.(2953-2955)TGC>TTC		ATPase, Cu++ transporting, beta polypeptide							56.0	63.0	61.0					13																	52520526		2018	4178	6196	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52520526C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2954G>T	13.37:g.52520526C>A	ENSP00000242839:p.Cys985Phe					ATP7B_uc010adv.2_Missense_Mutation_p.C555F|ATP7B_uc001vfx.2_Missense_Mutation_p.C778F|ATP7B_uc001vfy.2_Missense_Mutation_p.C874F|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Missense_Mutation_p.C937F|ATP7B_uc010tgv.1_Missense_Mutation_p.C907F|ATP7B_uc001vfv.2_Missense_Mutation_p.C257F|ATP7B_uc010tgs.1_Missense_Mutation_p.C257F	p.C985F	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	13	3111	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	985		C -> Y (in WD).	Helical; (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2954G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886405	0.72410	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370	D;D;D;D;D;D	0.91351	-2.37;-2.37;-2.83;-2.37;-2.37;-2.83	5.15	5.15	0.70609	ATPase, P-type, ATPase-associated domain (1);	0.040812	0.85682	D	0.000000	D	0.97682	0.9240	H	0.99156	4.45	0.80722	D	1	D;D;D;B;B;D;D	0.89917	0.997;1.0;1.0;0.107;0.019;1.0;1.0	D;D;D;B;B;D;D	0.97110	0.992;0.998;1.0;0.008;0.007;0.999;0.999	D	0.99187	1.0869	10	0.87932	D	0	-17.4737	18.8116	0.92059	0.0:1.0:0.0:0.0	.	907;937;257;555;874;778;985	E7ET55;B7ZLR4;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	F	985;874;778;257;907;555	ENSP00000242839:C985F;ENSP00000383217:C874F;ENSP00000342559:C778F;ENSP00000390360:C257F;ENSP00000416738:C907F;ENSP00000383221:C555F	ENSP00000242839:C985F	C	-	2	0	ATP7B	51418527	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.604000	0.82830	2.698000	0.92095	0.650000	0.86243	TGC		0.627	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		8	37	1	0	1.12685e-05	0.004482	1.36427e-05	8	37				
NEK5	341676	broad.mit.edu	37	13	52693477	52693477	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:52693477T>A	ENST00000355568.4	-	4	331	c.192A>T	c.(190-192)gtA>gtT	p.V64V		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	64	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V121V(1)|p.V64V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGAAGAAGGCTACAATGTTGG	0.303																																							uc001vge.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(190-192)GTA>GTT		NIMA-related kinase 5							92.0	96.0	95.0					13																	52693477		2203	4299	6502	SO:0001819	synonymous_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52693477T>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.192A>T	13.37:g.52693477T>A						NEK5_uc001vgf.2_Silent_p.V64V	p.V64V	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	4	332	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	64			Protein kinase.		Q5TAP5	Silent	SNP	ENST00000355568.4	37	c.192A>T	CCDS31979.1																																																																																				0.303	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		5	35	0	0	0	0.000602	0	5	35				
OLFM4	10562	broad.mit.edu	37	13	53608516	53608516	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:53608516C>T	ENST00000219022.2	+	2	316	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	80					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.R80C(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CGTGGATGACCGTGGGACCTG	0.478																																							uc001vhl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(238-240)CGT>TGT		olfactomedin 4 precursor							135.0	116.0	122.0					13																	53608516		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53608516C>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.238C>T	13.37:g.53608516C>T	ENSP00000219022:p.Arg80Cys					OLFM4_uc001vhk.1_Missense_Mutation_p.R80C	p.R80C	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	2	238	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	80					O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.238C>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047941	0.36085	.	.	ENSG00000102837	ENST00000219022	D	0.90261	-2.64	5.28	2.58	0.30949	.	1.081790	0.06972	N	0.818206	D	0.90421	0.7001	L	0.50333	1.59	0.09310	N	1	D	0.61080	0.989	P	0.49502	0.613	T	0.78393	-0.2221	10	0.54805	T	0.06	.	9.9934	0.41885	0.2812:0.5836:0.1352:0.0	.	80	Q6UX06	OLFM4_HUMAN	C	80	ENSP00000219022:R80C	ENSP00000219022:R80C	R	+	1	0	OLFM4	52506517	0.000000	0.05858	0.006000	0.13384	0.337000	0.28794	0.462000	0.21956	0.299000	0.22661	-0.817000	0.03123	CGT		0.478	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		8	90	0	0	0	0.004482	0	8	90				
PCDH17	27253	broad.mit.edu	37	13	58240910	58240910	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:58240910G>A	ENST00000377918.3	+	3	2766	c.2740G>A	c.(2740-2742)Gtt>Att	p.V914I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	914					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V914I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGACATGTCTGTTAGGGAGGC	0.483																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2740-2742)GTT>ATT		protocadherin 17 precursor							101.0	91.0	94.0					13																	58240910		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58240910G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2740G>A	13.37:g.58240910G>A	ENSP00000367151:p.Val914Ile					PCDH17_uc010aec.1_Missense_Mutation_p.V913I|PCDH17_uc001vhr.1_Missense_Mutation_p.V3I	p.V914I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	3	3632	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	914			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2740G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238406	0.58886	.	.	ENSG00000118946	ENST00000377918	T	0.52754	0.65	5.83	5.83	0.93111	.	0.055851	0.64402	D	0.000001	T	0.49218	0.1544	L	0.43923	1.385	0.49051	D	0.999745	P	0.40376	0.715	B	0.43445	0.42	T	0.30238	-0.9985	9	.	.	.	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	914	O14917	PCD17_HUMAN	I	914	ENSP00000367151:V914I	.	V	+	1	0	PCDH17	57138911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.761000	0.94854	0.650000	0.86243	GTT		0.483	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		9	41	0	0	0	0.006214	0	9	41				
DACH1	1602	broad.mit.edu	37	13	72133996	72133996	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:72133996A>T	ENST00000359684.2	-	6	1552	c.1553T>A	c.(1552-1554)gTg>gAg	p.V518E	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.V466E|DACH1_ENST00000313174.7_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	518					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.V466E(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGAGCTGGACACGCTGCTGCT	0.552																																							uc010thn.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1390-1392)GTG>GAG		dachshund homolog 1 isoform a							52.0	58.0	56.0					13																	72133996		2065	4220	6285	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72133996A>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1553T>A	13.37:g.72133996A>T	ENSP00000352712:p.Val518Glu					DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	p.V464E	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	6	1814	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	516					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1391T>A		.	.	.	.	.	.	.	.	.	.	A	25.2	4.614066	0.87359	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.36878	1.3;1.23	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.58454	0.839	T	0.49418	-0.8942	10	0.18276	T	0.48	-15.1596	15.9351	0.79698	1.0:0.0:0.0:0.0	.	464	Q9UI36-2	.	E	466;518;518	ENSP00000304994:V466E;ENSP00000352712:V518E	ENSP00000304994:V466E	V	-	2	0	DACH1	71031997	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.896000	0.92521	2.159000	0.67721	0.528000	0.53228	GTG		0.552	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		7	39	0	0	0	0.001984	0	7	39				
RBM26	64062	broad.mit.edu	37	13	79929484	79929484	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:79929484G>A	ENST00000438737.2	-	12	2165	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	RBM26_ENST00000267229.7_Silent_p.I575I|RBM26_ENST00000438724.1_Silent_p.I575I			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	575	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I575I(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGCAAATTGGATTAGGGCAC	0.343																																							uc001vkz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1738-1740)ATC>ATT		RNA binding motif protein 26							172.0	158.0	163.0					13																	79929484		2203	4300	6503	SO:0001819	synonymous_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79929484G>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1725C>T	13.37:g.79929484G>A						RBM26_uc001vky.2_Silent_p.I575I|RBM26_uc001vla.2_Silent_p.I575I|RBM26_uc010tia.1_5'Flank|RBM26_uc001vkx.2_Silent_p.I287I	p.I580I	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	12	1754	-		Acute lymphoblastic leukemia(28;0.0279)	575			RRM 1.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37	c.1740C>T																																																																																					0.343	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		4	55	0	0	0	0.009096	0	4	55				
SPRY2	10253	broad.mit.edu	37	13	80911103	80911103	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:80911103C>A	ENST00000377102.1	-	2	1715	c.738G>T	c.(736-738)caG>caT	p.Q246H	SPRY2_ENST00000540649.1_Missense_Mutation_p.Q246H|SPRY2_ENST00000377104.3_Missense_Mutation_p.Q246H			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	246	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.Q246H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AACAGTGAGACTGGCTGCAAG	0.463																																							uc001vli.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(736-738)CAG>CAT		sprouty 2							146.0	120.0	129.0					13																	80911103		2203	4300	6503	SO:0001583	missense	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911103C>A	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.738G>T	13.37:g.80911103C>A	ENSP00000366306:p.Gln246His					SPRY2_uc001vlj.2_Missense_Mutation_p.Q246H	p.Q246H	NM_005842	NP_005833	O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1716	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	246			SPR.|Cys-rich.		B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.738G>T	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545205	0.45280	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.63417	-0.04;-0.04;-0.04	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	N	0.16743	0.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67248	-0.5718	10	0.33141	T	0.24	.	19.4196	0.94715	0.0:1.0:0.0:0.0	.	246	O43597	SPY2_HUMAN	H	246	ENSP00000366308:Q246H;ENSP00000366306:Q246H;ENSP00000439027:Q246H	ENSP00000366306:Q246H	Q	-	3	2	SPRY2	79809104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.778000	0.68940	2.599000	0.87857	0.561000	0.74099	CAG		0.463	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			21	69	1	0	4.35082e-09	0.010504	6.08561e-09	21	69				
SPRY2	10253	broad.mit.edu	37	13	80911650	80911650	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:80911650C>A	ENST00000377102.1	-	2	1168	c.191G>T	c.(190-192)aGa>aTa	p.R64I	SPRY2_ENST00000540649.1_Missense_Mutation_p.R64I|SPRY2_ENST00000377104.3_Missense_Mutation_p.R64I			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	64					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.R64I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GAGCCCAGGTCTTGGGACGAC	0.597																																							uc001vli.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(190-192)AGA>ATA		sprouty 2							93.0	92.0	92.0					13																	80911650		2203	4300	6503	SO:0001583	missense	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911650C>A	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.191G>T	13.37:g.80911650C>A	ENSP00000366306:p.Arg64Ile					SPRY2_uc001vlj.2_Missense_Mutation_p.R64I	p.R64I	NM_005842	NP_005833	O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1169	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	64					B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.191G>T	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568701	0.86439	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.57436	0.4;0.4;0.4	5.48	5.48	0.80851	.	0.108327	0.64402	D	0.000007	T	0.71400	0.3335	M	0.68952	2.095	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.73550	-0.3947	10	0.72032	D	0.01	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	64	O43597	SPY2_HUMAN	I	64	ENSP00000366308:R64I;ENSP00000366306:R64I;ENSP00000439027:R64I	ENSP00000366306:R64I	R	-	2	0	SPRY2	79809651	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.319000	0.51983	2.576000	0.86940	0.655000	0.94253	AGA		0.597	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			14	79	1	0	4.36969e-10	0.001855	6.30677e-10	14	79				
SLITRK1	114798	broad.mit.edu	37	13	84454950	84454951	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:84454950_84454951GG>CT	ENST00000377084.2	-	1	1577_1578	c.692_693CC>AG	c.(691-693)cCC>cAG	p.P231Q		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	231	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P231Q(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGCATTCTTGGGAATGTTTTC	0.52																																							uc001vlk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(691-693)CCC>CAG		slit and trk like 1 protein precursor																																				SO:0001583	missense	114798					integral to membrane		g.chr13:84454950_84454951GG>CT	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.692_693delinsCT	13.37:g.84454950_84454951delinsCT	ENSP00000366288:p.Pro231Gln						p.P231Q	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1578_1579	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	231			Extracellular (Potential).|LRRCT 1.		Q5U5I6|Q96SF9	Missense_Mutation	DNP	ENST00000377084.2	37	c.692_693CC>AG	CCDS9464.1																																																																																				0.520	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		13	63	0	0	0	0.004672	0	13	63				
SLITRK6	84189	broad.mit.edu	37	13	86368425	86368425	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:86368425G>T	ENST00000400286.2	-	2	2817	c.2219C>A	c.(2218-2220)aCg>aAg	p.T740K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	740					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.T740K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTGGTTCGTGGTTTTGTA	0.368																																							uc001vll.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2218-2220)ACG>AAG		slit and trk like 6 precursor							254.0	245.0	247.0					13																	86368425		1857	4097	5954	SO:0001583	missense	84189					integral to membrane		g.chr13:86368425G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2219C>A	13.37:g.86368425G>T	ENSP00000383143:p.Thr740Lys					SLITRK6_uc010afe.1_Missense_Mutation_p.T193K	p.T740K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2678	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		740			Cytoplasmic (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.2219C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	4.495	0.091845	0.08632	.	.	ENSG00000184564	ENST00000400286	T	0.56275	0.47	5.83	0.952	0.19584	.	0.519448	0.17277	U	0.180179	T	0.25494	0.0620	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12268	-1.0554	10	0.51188	T	0.08	-0.7473	2.2475	0.04035	0.2042:0.2369:0.4371:0.1218	.	740	Q9H5Y7	SLIK6_HUMAN	K	740	ENSP00000383143:T740K	ENSP00000383143:T740K	T	-	2	0	SLITRK6	85266426	0.003000	0.15002	0.521000	0.27850	0.442000	0.32017	0.935000	0.28924	-0.146000	0.11274	-0.759000	0.03464	ACG		0.368	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		52	269	1	0	2.74695e-27	0.00361	4.98857e-27	52	269				
SLITRK5	26050	broad.mit.edu	37	13	88329046	88329046	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:88329046G>T	ENST00000325089.6	+	2	1622	c.1403G>T	c.(1402-1404)aGg>aTg	p.R468M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R227M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	468					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R468M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATGGCAACAGGATCGAGAGG	0.552																																							uc001vln.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1402-1404)AGG>ATG		SLIT and NTRK-like family, member 5 precursor							60.0	61.0	61.0					13																	88329046		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329046G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1403G>T	13.37:g.88329046G>T	ENSP00000366283:p.Arg468Met					SLITRK5_uc010tic.1_Missense_Mutation_p.R227M	p.R468M	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1622	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		468			LRR 9.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1403G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006320	0.19199	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58506	0.33;0.33	5.23	2.13	0.27403	.	0.395380	0.25439	N	0.030673	T	0.49355	0.1552	M	0.69358	2.11	0.30438	N	0.776452	P;B	0.34629	0.46;0.043	B;B	0.38921	0.285;0.016	T	0.51108	-0.8747	9	.	.	.	-12.1485	1.0999	0.01681	0.2071:0.1761:0.4343:0.1825	.	227;468	B4DSH5;O94991	.;SLIK5_HUMAN	M	468;227	ENSP00000366283:R468M;ENSP00000442244:R227M	.	R	+	2	0	SLITRK5	87127047	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.758000	0.47565	1.196000	0.43129	0.561000	0.74099	AGG		0.552	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			10	47	1	0	3.86212e-05	0.008291	4.5402e-05	10	47				
GPC6	10082	broad.mit.edu	37	13	94958244	94958244	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:94958244G>A	ENST00000377047.4	+	6	1634	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	340					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G340E(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTCTTTCAGGGATGTGGTCAG	0.448																																							uc001vlt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GGA>GAA		glypican 6 precursor							146.0	158.0	154.0					13																	94958244		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94958244G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1019G>A	13.37:g.94958244G>A	ENSP00000366246:p.Gly340Glu					GPC6_uc010tig.1_Missense_Mutation_p.G340E	p.G340E	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			6	1651	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	340					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1019G>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216590	0.79352	.	.	ENSG00000183098	ENST00000377047	T	0.50001	0.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.69523	2.12	0.58432	D	0.999998	P;P	0.46220	0.624;0.874	P;P	0.53760	0.525;0.734	T	0.56025	-0.8047	10	0.02654	T	1	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	340;340	B4E2M1;Q9Y625	.;GPC6_HUMAN	E	340	ENSP00000366246:G340E	ENSP00000366246:G340E	G	+	2	0	GPC6	93756245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.447000	0.97595	2.653000	0.90120	0.563000	0.77884	GGA		0.448	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		24	251	0	0	0	0.003954	0	24	251				
TGDS	23483	broad.mit.edu	37	13	95235491	95235491	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:95235491C>G	ENST00000261296.5	-	5	434		c.e5-1		TGDS_ENST00000498294.1_Splice_Site	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase						nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AATGAAAGATCTAAAAGAAAA	0.383																																							uc001vlw.2		NA																	1	Unknown(1)		lung(1)		0						c.e5-1		TDP-glucose 4,6-dehydratase							76.0	63.0	68.0					13																	95235491		2202	4300	6502	SO:0001630	splice_region_variant	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95235491C>G	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.314-1G>C	13.37:g.95235491C>G						TGDS_uc001vlx.2_Splice_Site	p.D105_splice	NM_014305	NP_055120	O95455	TGDS_HUMAN			5	435	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)							Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Splice_Site	SNP	ENST00000261296.5	37	c.314_splice	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212885	0.58452	.	.	ENSG00000088451	ENST00000261296	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0671	0.59041	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TGDS	94033492	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.947000	0.70242	2.802000	0.96397	0.655000	0.94253	.		0.383	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305	Intron	3	10	0	0	0	0.004672	0	3	10				
CLDN10	9071	broad.mit.edu	37	13	96230256	96230256	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:96230256T>A	ENST00000299339.2	+	5	704	c.675T>A	c.(673-675)aaT>aaA	p.N225K	CLDN10_ENST00000376873.3_Missense_Mutation_p.N223K	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	225					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.N225K(1)|p.N223K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTGATAAAAATGCTTATGTCT	0.403																																							uc001vmh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(673-675)AAT>AAA		claudin 10 isoform b							69.0	67.0	68.0					13																	96230256		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96230256T>A	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.675T>A	13.37:g.96230256T>A	ENSP00000299339:p.Asn225Lys					CLDN10_uc001vmg.2_Missense_Mutation_p.N223K|CLDN10_uc010tii.1_Missense_Mutation_p.N204K|DZIP1_uc010afn.2_Intron	p.N225K	NM_006984	NP_008915	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		5	736	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		225			Cytoplasmic (Potential).		Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.675T>A	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680883	0.68042	.	.	ENSG00000134873	ENST00000376873;ENST00000299339	D;D	0.94000	-3.33;-3.1	5.32	-0.24	0.13047	.	0.160205	0.53938	D	0.000046	D	0.89646	0.6775	N	0.19112	0.55	0.80722	D	1	P;P;D	0.58970	0.939;0.939;0.984	P;P;P	0.57244	0.637;0.637;0.816	D	0.83708	0.0186	10	0.18710	T	0.47	.	9.9907	0.41870	0.0:0.4092:0.0:0.5908	.	225;225;223	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	K	223;225	ENSP00000366069:N223K;ENSP00000299339:N225K	ENSP00000299339:N225K	N	+	3	2	CLDN10	95028257	0.973000	0.33851	0.994000	0.49952	0.970000	0.65996	-0.156000	0.10100	-0.256000	0.09473	-0.270000	0.10280	AAT		0.403	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		6	27	0	0	0	0.001168	0	6	27				
DZIP1	22873	broad.mit.edu	37	13	96264337	96264337	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:96264337T>A	ENST00000376829.2	-	11	2119	c.1268A>T	c.(1267-1269)cAg>cTg	p.Q423L	DZIP1_ENST00000361156.3_Missense_Mutation_p.Q423L|DZIP1_ENST00000361396.2_Missense_Mutation_p.Q423L|DZIP1_ENST00000347108.3_Missense_Mutation_p.Q423L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	423					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q423L(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTGGAGTCTCTGCCCTagctc	0.433																																							uc001vmk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1267-1269)CAG>CTG		DAZ interacting protein 1 isoform 2							157.0	145.0	149.0					13																	96264337		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96264337T>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1268A>T	13.37:g.96264337T>A	ENSP00000366025:p.Gln423Leu					DZIP1_uc001vml.2_Missense_Mutation_p.Q423L	p.Q423L	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		11	2120	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		423			Potential.		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1268A>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112238	0.77210	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.88	4.67	0.58626	.	0.334013	0.32884	N	0.005531	T	0.58032	0.2094	M	0.68317	2.08	0.28501	N	0.914038	D;D	0.71674	0.998;0.979	D;P	0.66351	0.943;0.702	T	0.56577	-0.7956	10	0.59425	D	0.04	-12.9501	10.1059	0.42533	0.1496:0.0:0.0:0.8504	.	423;423	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	L	423	ENSP00000257312:Q423L;ENSP00000355018:Q423L;ENSP00000355175:Q423L;ENSP00000366025:Q423L	ENSP00000257312:Q423L	Q	-	2	0	DZIP1	95062338	1.000000	0.71417	0.991000	0.47740	0.764000	0.43329	2.409000	0.44583	1.005000	0.39183	0.533000	0.62120	CAG		0.433	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		26	132	0	0	0	0.003954	0	26	132				
DZIP1	22873	broad.mit.edu	37	13	96272140	96272140	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:96272140C>G	ENST00000376829.2	-	10	2023	c.1172G>C	c.(1171-1173)cGg>cCg	p.R391P	DZIP1_ENST00000361156.3_Splice_Site_p.R391P|DZIP1_ENST00000361396.2_Splice_Site_p.R391P|DZIP1_ENST00000347108.3_Splice_Site_p.R391P	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	391					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R391P(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TAACCTTACCCGACCCTTCTC	0.318																																							uc001vmk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1171-1173)CGG>CCG		DAZ interacting protein 1 isoform 2							123.0	123.0	123.0					13																	96272140		2203	4300	6503	SO:0001630	splice_region_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96272140C>G	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1173+1G>C	13.37:g.96272140C>G						DZIP1_uc001vml.2_Missense_Mutation_p.R391P	p.R391P	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		10	2024	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		391					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1172G>C	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670457	0.29693	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.0	-1.25	0.09405	.	0.863501	0.10680	N	0.646533	T	0.46964	0.1420	L	0.47716	1.5	0.23665	N	0.997164	D;P	0.53885	0.963;0.811	P;B	0.52672	0.706;0.296	T	0.39781	-0.9597	10	0.48119	T	0.1	-1.715	6.7003	0.23221	0.1393:0.236:0.0:0.6246	.	391;391	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	P	391	ENSP00000257312:R391P;ENSP00000355018:R391P;ENSP00000355175:R391P;ENSP00000366025:R391P	ENSP00000257312:R391P	R	-	2	0	DZIP1	95070141	0.849000	0.29639	0.411000	0.26484	0.713000	0.41058	-0.204000	0.09425	-0.276000	0.09206	0.591000	0.81541	CGG		0.318	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	Missense_Mutation	16	120	0	0	0	0.004007	0	16	120				
HS6ST3	266722	broad.mit.edu	37	13	97484870	97484870	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:97484870A>G	ENST00000376705.2	+	2	858	c.834A>G	c.(832-834)ccA>ccG	p.P278P		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	278					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.P278P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCCCCACCCCAGATGAGCTGC	0.552																																							uc001vmw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(832-834)CCA>CCG		heparan sulfate 6-O-sulfotransferase 3							58.0	53.0	55.0					13																	97484870		2203	4300	6503	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:97484870A>G	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.834A>G	13.37:g.97484870A>G							p.P278P	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	858	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		278			Lumenal (Potential).		Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.834A>G	CCDS9481.1																																																																																				0.552	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		8	35	0	0	0	0.004482	0	8	35				
SLC15A1	6564	broad.mit.edu	37	13	99364135	99364135	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:99364135T>A	ENST00000376503.5	-	11	928	c.873A>T	c.(871-873)ccA>ccT	p.P291P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	291					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.P291P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCCAGAACATTGGGAGTGGAA	0.517																																							uc001vno.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(871-873)CCA>CCT		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						199.0	148.0	165.0					13																	99364135		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99364135T>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.873A>T	13.37:g.99364135T>A							p.P291P	NM_005073	NP_005064	P46059	S15A1_HUMAN			11	950	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		291			Helical; (Potential).		Q5VW82	Silent	SNP	ENST00000376503.5	37	c.873A>T	CCDS9489.1																																																																																				0.517	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		23	87	0	0	0	0.005443	0	23	87				
PCCA	5095	broad.mit.edu	37	13	100925601	100925601	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:100925601G>T	ENST00000376285.1	+	12	1103		c.e12+1		PCCA_ENST00000376279.3_Splice_Site|PCCA_ENST00000376286.4_Splice_Site	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide						biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAGACTCCAGGTAACAACAAC	0.363																																							uc001voo.2		NA																	1	Unknown(1)		lung(1)	skin(2)	2						c.e12+1		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						59.0	63.0	61.0					13																	100925601		2203	4300	6503	SO:0001630	splice_region_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100925601G>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1065+1G>T	13.37:g.100925601G>T						PCCA_uc010aga.2_Splice_Site_p.Q329_splice|PCCA_uc010tiz.1_Splice_Site_p.Q355_splice	p.Q355_splice	NM_000282	NP_000273	P05165	PCCA_HUMAN			12	1103	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Splice_Site	SNP	ENST00000376285.1	37	c.1065_splice	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424854	0.83667	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6549	0.95832	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCCA	99723602	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	9.751000	0.98889	2.721000	0.93114	0.585000	0.79938	.		0.363	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		Intron	4	41	1	0	0.00909568	0.009096	0.00983662	4	41				
NALCN	259232	broad.mit.edu	37	13	101714351	101714351	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:101714351C>A	ENST00000251127.6	-	41	4805	c.4724G>T	c.(4723-4725)tGg>tTg	p.W1575L	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1575					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.W1575L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCTTGAGCCACATGCGGAT	0.622																																							uc001vox.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4723-4725)TGG>TTG		voltage gated channel like 1							124.0	89.0	101.0					13																	101714351		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101714351C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4724G>T	13.37:g.101714351C>A	ENSP00000251127:p.Trp1575Leu						p.W1575L	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			41	4913	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1575			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4724G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232504	0.95207	.	.	ENSG00000102452	ENST00000251127	D	0.98044	-4.68	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99353	1.0915	10	0.66056	D	0.02	.	20.0931	0.97828	0.0:1.0:0.0:0.0	.	1575	Q8IZF0	NALCN_HUMAN	L	1575	ENSP00000251127:W1575L	ENSP00000251127:W1575L	W	-	2	0	NALCN	100512352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.274000	0.78538	2.759000	0.94783	0.650000	0.86243	TGG		0.622	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		20	44	1	0	7.41877e-09	0.001882	1.0265e-08	20	44				
FGF14	2259	broad.mit.edu	37	13	102375181	102375181	+	Nonstop_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:102375181C>A	ENST00000376143.4	-	5	743	c.744G>T	c.(742-744)taG>taT	p.*248Y	FGF14_ENST00000376131.4_Nonstop_Mutation_p.*253Y|ITGBL1_ENST00000415285.1_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.*253Y(1)|p.*248Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGATCTGGCTATGTTGTCT	0.502																																							uc001vpe.2		NA																	2	Nonstop extension(2)		lung(2)	ovary(2)|lung(1)|large_intestine(1)	4						c.(742-744)TAG>TAT		fibroblast growth factor 14 isoform 1A							277.0	201.0	227.0					13																	102375181		2203	4300	6503	SO:0001578	stop_lost	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375181C>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.744G>T	13.37:g.102375181C>A						FGF14_uc001vpf.2_Nonstop_Mutation_p.*253Y|FGF14_uc001vpd.1_5'Flank	p.*248Y	NM_004115	NP_004106	Q92915	FGF14_HUMAN			5	744	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		248					Q86YN7|Q96QX6	Nonstop_Mutation	SNP	ENST00000376143.4	37	c.744G>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342589	0.82022	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.28240	N	0.92574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3241	0.98686	0.0:1.0:0.0:0.0	.	.	.	.	Y	253;248	.	.	X	-	3	2	FGF14	101173182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.812000	0.96745	0.563000	0.77884	TAG		0.502	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			14	44	1	0	2.61681e-11	0.00245	3.89738e-11	14	44				
ING1	3621	broad.mit.edu	37	13	111371668	111371668	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:111371668G>T	ENST00000375774.3	+	2	1120	c.658G>T	c.(658-660)Gcg>Tcg	p.A220S	ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Missense_Mutation_p.A33S|ING1_ENST00000333219.7_Missense_Mutation_p.A77S|ING1_ENST00000375775.3_Missense_Mutation_p.A8S	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	220					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.A77S(1)|p.A33S(1)|p.A220S(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGTGCAGCGCGCGCTGATCCG	0.652																																							uc001vri.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(658-660)GCG>TCG		inhibitor of growth family, member 1 isoform D							42.0	50.0	47.0					13																	111371668		2203	4298	6501	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371668G>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.658G>T	13.37:g.111371668G>T	ENSP00000364929:p.Ala220Ser					ING1_uc001vrf.2_Missense_Mutation_p.A33S|ING1_uc001vrg.2_Missense_Mutation_p.A8S|ING1_uc001vrh.2_Missense_Mutation_p.A77S	p.A220S	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1090	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		220					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.658G>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646360	0.29246	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T	0.48522	0.81	5.13	4.25	0.50352	Inhibitor of growth protein, N-terminal (1);	0.107189	0.64402	D	0.000006	T	0.45856	0.1363	L	0.41906	1.305	0.54753	D	0.999982	D;B;B	0.54964	0.969;0.038;0.075	P;B;B	0.51415	0.669;0.083;0.05	T	0.19712	-1.0297	10	0.13853	T	0.58	-39.019	13.5084	0.61497	0.0:0.0:0.7212:0.2788	.	220;77;33	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	S	33;77;8;220	ENSP00000364929:A220S	ENSP00000328436:A77S	A	+	1	0	ING1	110169669	1.000000	0.71417	0.689000	0.30133	0.201000	0.24016	4.129000	0.57957	2.385000	0.81259	0.484000	0.47621	GCG		0.652	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		19	55	1	0	9.7654e-05	0.007413	0.000113243	19	55				
MCF2L	23263	broad.mit.edu	37	13	113729424	113729424	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:113729424G>T	ENST00000375608.3	+	12	1377	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F	MCF2L_ENST00000535094.2_Missense_Mutation_p.C410F|MCF2L_ENST00000434480.2_Missense_Mutation_p.C416F|MCF2L_ENST00000375604.2_Missense_Mutation_p.C467F|MCF2L_ENST00000375597.4_Missense_Mutation_p.C408F|MCF2L_ENST00000421756.1_Missense_Mutation_p.C414F|MCF2L_ENST00000423482.2_Missense_Mutation_p.C408F|MCF2L_ENST00000397030.1_Missense_Mutation_p.C443F|MCF2L_ENST00000375601.3_Missense_Mutation_p.C414F|MCF2L_ENST00000442652.2_Missense_Mutation_p.C440F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	440					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C414F(1)|p.C467F(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGGCACCTCTGTGACCAGTTC	0.667																																							uc001vsu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1399-1401)TGT>TTT		MCF.2 cell line derived transforming							53.0	61.0	58.0					13																	113729424		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729424G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1319G>T	13.37:g.113729424G>T	ENSP00000364758:p.Cys440Phe					MCF2L_uc001vsq.2_Missense_Mutation_p.C467F|MCF2L_uc010tjr.1_Missense_Mutation_p.C410F|MCF2L_uc001vsr.2_Missense_Mutation_p.C414F|MCF2L_uc001vss.3_Missense_Mutation_p.C408F|MCF2L_uc010tjs.1_Missense_Mutation_p.C408F|MCF2L_uc001vst.1_Missense_Mutation_p.C372F	p.C467F	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			11	1422	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	440			Spectrin.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.1400G>T		.	.	.	.	.	.	.	.	.	.	G	16.54	3.150761	0.57151	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.94	4.94	0.65067	.	0.050719	0.85682	D	0.000000	T	0.70988	0.3287	M	0.88241	2.94	0.50171	D	0.999853	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D	0.81914	0.992;0.992;0.992;0.992;0.968;0.995	T	0.78414	-0.2213	10	0.87932	D	0	.	18.1832	0.89785	0.0:0.0:1.0:0.0	.	408;410;467;372;408;440	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	F	440;440;467;443;410;414;414;416;408;408;251	ENSP00000364758:C440F;ENSP00000401422:C440F;ENSP00000364754:C467F;ENSP00000380225:C443F;ENSP00000440374:C410F;ENSP00000397285:C414F;ENSP00000364751:C414F;ENSP00000407722:C416F;ENSP00000405639:C408F;ENSP00000364747:C408F	ENSP00000364747:C408F	C	+	2	0	MCF2L	112777425	1.000000	0.71417	0.911000	0.35937	0.073000	0.16967	9.125000	0.94402	2.276000	0.75962	0.561000	0.74099	TGT		0.667	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			13	68	1	0	7.03913e-09	0.001368	9.75721e-09	13	68				
CUL4A	8451	broad.mit.edu	37	13	113897369	113897369	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:113897369G>A	ENST00000375440.4	+	11	1207	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	CUL4A_ENST00000326335.4_Missense_Mutation_p.V275M|CUL4A_ENST00000451881.1_Missense_Mutation_p.V275M|CUL4A_ENST00000375441.3_Missense_Mutation_p.V275M	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	375					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.V275M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGTGGACCACGTGATCGAGGT	0.468																																							uc010tjy.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1123-1125)GTG>ATG		cullin 4A isoform 1							182.0	145.0	157.0					13																	113897369		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113897369G>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1123G>A	13.37:g.113897369G>A	ENSP00000364589:p.Val375Met					CUL4A_uc010tjx.1_Missense_Mutation_p.V275M|CUL4A_uc010agu.2_Missense_Mutation_p.V236M|CUL4A_uc010tjz.1_Missense_Mutation_p.V54M	p.V375M	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		12	1134	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	375					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.1123G>A	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211494	0.58343	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.97	4.01	0.46588	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.196860	0.43919	D	0.000505	T	0.64305	0.2586	L	0.36672	1.1	0.50813	D	0.999897	P;P	0.38250	0.624;0.624	B;B	0.38056	0.264;0.264	T	0.62388	-0.6865	10	0.48119	T	0.1	-30.6547	3.49	0.07634	0.6071:0.0:0.3929:0.0	.	375;375	Q13619;A8MSH7	CUL4A_HUMAN;.	M	275;275;275;375	ENSP00000364590:V275M;ENSP00000389118:V275M;ENSP00000322132:V275M;ENSP00000364589:V375M	ENSP00000322132:V275M	V	+	1	0	CUL4A	112945370	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	5.175000	0.65021	1.080000	0.41073	0.655000	0.94253	GTG		0.468	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		17	66	0	0	0	0.006122	0	17	66				
POTEG	404785	broad.mit.edu	37	14	19553607	19553607	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:19553607G>T	ENST00000409832.3	+	1	243	c.191G>T	c.(190-192)tGg>tTg	p.W64L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	64										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ATGGGCAAGTGGTGCCGCCAC	0.597																																							uc001vuz.1		NA																	0				ovary(1)	1						c.(190-192)TGG>TTG		POTE ankyrin domain family, member G							125.0	173.0	157.0					14																	19553607		2199	4290	6489	SO:0001583	missense	404785							g.chr14:19553607G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.191G>T	14.37:g.19553607G>T	ENSP00000386971:p.Trp64Leu					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.W64L	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	243	+			64					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.191G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.834	0.522995	0.13066	.	.	ENSG00000222036	ENST00000409832	T	0.28255	1.62	.	.	.	.	.	.	.	.	T	0.26484	0.0647	L	0.54323	1.7	0.09310	N	1	B	0.29085	0.232	B	0.29862	0.108	T	0.27400	-1.0075	7	0.56958	D	0.05	.	.	.	.	.	64	Q6S5H5	POTEG_HUMAN	L	64	ENSP00000386971:W64L	ENSP00000386971:W64L	W	+	2	0	POTEG	18623607	0.001000	0.12720	0.030000	0.17652	0.030000	0.12068	-0.542000	0.06091	0.162000	0.19483	0.165000	0.16767	TGG		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		99	629	1	0	3.82405e-32	0.00361	7.16428e-32	99	629				
POTEM	641455	broad.mit.edu	37	14	20019993	20019993	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20019993G>T	ENST00000551509.1	-	1	279	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	76										endometrium(4)|kidney(1)|lung(4)	9						CGTTGCTCTTGCCGCTCCCCC	0.587																																							uc001vwc.3		NA																	0					0						c.(226-228)GGC>GGA		prostate-specific P704P							12.0	21.0	19.0					14																	20019993		319	1143	1462	SO:0001819	synonymous_variant	641455							g.chr14:20019993G>T		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.228C>A	14.37:g.20019993G>T						P704P_uc001vwb.3_RNA	p.G76G	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN			1	280	-			76						Silent	SNP	ENST00000551509.1	37	c.228C>A	CCDS45076.1																																																																																				0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		39	537	1	0	6.3091e-27	0.00361	1.14306e-26	39	537				
OR4Q3	441669	broad.mit.edu	37	14	20216396	20216396	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20216396G>A	ENST00000331723.1	+	1	810	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K270K(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGGATAAGATATTCTCCT	0.438																																							uc010tkt.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(808-810)AAG>AAA		olfactory receptor, family 4, subfamily Q,							157.0	160.0	159.0					14																	20216396		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216396G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.810G>A	14.37:g.20216396G>A							p.K270K	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	810	+	all_cancers(95;0.00108)		270			Extracellular (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.810G>A	CCDS32020.1																																																																																				0.438	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			10	290	0	0	0	0.000978	0	10	290				
OR4K2	390431	broad.mit.edu	37	14	20345226	20345226	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20345226C>G	ENST00000298642.2	+	1	836	c.800C>G	c.(799-801)aCa>aGa	p.T267R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTTTCTCACAGACAAGATT	0.398																																							uc001vwh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(799-801)ACA>AGA		olfactory receptor, family 4, subfamily K,							160.0	158.0	159.0					14																	20345226		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345226C>G		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.800C>G	14.37:g.20345226C>G	ENSP00000298642:p.Thr267Arg						p.T267R	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	800	+	all_cancers(95;0.00108)		267			Extracellular (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.800C>G	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	3.707	-0.060326	0.07317	.	.	ENSG00000165762	ENST00000298642	T	0.00107	8.72	5.16	-0.136	0.13473	GPCR, rhodopsin-like superfamily (1);	1.154270	0.06624	N	0.757938	T	0.00109	0.0003	N	0.11313	0.125	0.09310	N	1	B	0.23316	0.083	B	0.36808	0.233	T	0.15009	-1.0452	10	0.72032	D	0.01	.	4.3935	0.11351	0.1505:0.358:0.0:0.4915	.	267	Q8NGD2	OR4K2_HUMAN	R	267	ENSP00000298642:T267R	ENSP00000298642:T267R	T	+	2	0	OR4K2	19415066	0.000000	0.05858	0.026000	0.17262	0.172000	0.22775	-0.385000	0.07379	-0.133000	0.11537	-0.948000	0.02665	ACA		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			27	130	0	0	0	0.005443	0	27	130				
OR4K14	122740	broad.mit.edu	37	14	20482658	20482658	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20482658C>A	ENST00000305045.2	-	1	694	c.695G>T	c.(694-696)gGt>gTt	p.G232V		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G232V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATGTGCTACCGGCAGCACG	0.498																																							uc010tky.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(694-696)GGT>GTT		olfactory receptor, family 4, subfamily K,							101.0	81.0	88.0					14																	20482658		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482658C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.695G>T	14.37:g.20482658C>A	ENSP00000305011:p.Gly232Val						p.G232V	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	695	-	all_cancers(95;0.00108)		232			Cytoplasmic (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.695G>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	1.339	-0.594525	0.03771	.	.	ENSG00000169484	ENST00000305045	T	0.00107	8.72	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.389734	0.18763	N	0.131825	T	0.00178	0.0005	L	0.52759	1.655	0.09310	N	1	B	0.23128	0.08	B	0.22152	0.038	T	0.31166	-0.9953	10	0.52906	T	0.07	.	10.512	0.44868	0.1942:0.8057:0.0:0.0	.	232	Q8NGD5	OR4KE_HUMAN	V	232	ENSP00000305011:G232V	ENSP00000305011:G232V	G	-	2	0	OR4K14	19552498	0.001000	0.12720	0.465000	0.27155	0.122000	0.20287	1.189000	0.32114	2.086000	0.62901	0.505000	0.49811	GGT		0.498	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			19	22	1	0	2.4624e-09	0.008871	3.4631e-09	19	22				
OR4L1	122742	broad.mit.edu	37	14	20528892	20528892	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20528892C>T	ENST00000315683.1	+	1	689	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAAAATCATCACATGGGCTC	0.438																																							uc001vwn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(688-690)TCA>TTA		olfactory receptor, family 4, subfamily L,							190.0	175.0	180.0					14																	20528892		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528892C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.689C>T	14.37:g.20528892C>T	ENSP00000319217:p.Ser230Leu						p.S230L	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	689	+	all_cancers(95;0.00108)		230			Cytoplasmic (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.689C>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	9.188	1.025182	0.19433	.	.	ENSG00000176246	ENST00000315683	T	0.00084	8.75	4.13	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.124264	0.36972	N	0.002314	T	0.00271	0.0008	L	0.52011	1.625	0.09310	N	1	D	0.56746	0.977	P	0.59825	0.864	T	0.50136	-0.8863	10	0.49607	T	0.09	.	8.4404	0.32812	0.0:0.803:0.0:0.197	.	230	Q8NH43	OR4L1_HUMAN	L	230	ENSP00000319217:S230L	ENSP00000319217:S230L	S	+	2	0	OR4L1	19598732	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.977000	0.03782	0.513000	0.28278	-0.145000	0.13849	TCA		0.438	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			71	118	0	0	0	0.00361	0	71	118				
TEP1	7011	broad.mit.edu	37	14	20845891	20845891	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20845891G>A	ENST00000262715.5	-	40	5783	c.5743C>T	c.(5743-5745)Ctg>Ttg	p.L1915L	TEP1_ENST00000556935.1_Silent_p.L1807L|TEP1_ENST00000545983.1_Silent_p.L253L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1915					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.L1915L(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCGACCCAGAGACCCTGAC	0.597																																							uc001vxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(5743-5745)CTG>TTG		telomerase-associated protein 1							40.0	49.0	46.0					14																	20845891		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845891G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5743C>T	14.37:g.20845891G>A						TEP1_uc010ahk.2_Silent_p.L1258L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L1807L|TEP1_uc010tlh.1_Silent_p.L253L	p.L1915L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	40	5783	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1915			WD 7.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.5743C>T	CCDS9548.1																																																																																				0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		36	47	0	0	0	0.003755	0	36	47				
TEP1	7011	broad.mit.edu	37	14	20872001	20872001	+	Missense_Mutation	SNP	C	C	A	rs34770935	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20872001C>A	ENST00000262715.5	-	6	1115	c.1075G>T	c.(1075-1077)Gcc>Tcc	p.A359S	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	359	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.A359S(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGAGACAGGCGGGCAGGGGC	0.557																																							uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1075-1077)GCC>TCC		telomerase-associated protein 1							102.0	103.0	103.0					14																	20872001		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20872001C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1075G>T	14.37:g.20872001C>A	ENSP00000262715:p.Ala359Ser					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	p.A359S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1115	-	all_cancers(95;0.00123)	all_lung(585;0.235)	359			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1075G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780604	0.31502	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.12984	2.63	5.69	4.81	0.61882	TROVE (2);	0.351696	0.30293	N	0.009949	T	0.09024	0.0223	L	0.31578	0.945	0.80722	D	1	B	0.34103	0.437	B	0.31442	0.13	T	0.29366	-1.0014	10	0.27785	T	0.31	-9.3558	7.3501	0.26686	0.2633:0.6572:0.0:0.0795	.	359	Q99973	TEP1_HUMAN	S	359	ENSP00000262715:A359S	ENSP00000262715:A359S	A	-	1	0	TEP1	19941841	0.090000	0.21635	1.000000	0.80357	0.930000	0.56654	0.044000	0.13992	1.412000	0.46977	0.655000	0.94253	GCC		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		8	145	1	0	0.00448238	0.004482	0.00488872	8	145				
OSGEP	55644	broad.mit.edu	37	14	20917122	20917122	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:20917122C>A	ENST00000206542.4	-	5	979		c.e5+1		OSGEP_ENST00000554249.1_Splice_Site|RP11-203M5.7_ENST00000555435.1_RNA|OSGEP_ENST00000555656.1_5'UTR	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase									p.?(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TGTCCCCTTACCGCTTTGCCA	0.458																																							uc001vxf.2		NA																	1	Unknown(1)		lung(1)		0						c.e5+1		O-sialoglycoprotein endopeptidase							202.0	203.0	203.0					14																	20917122		2203	4300	6503	SO:0001630	splice_region_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20917122C>A	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.557+1G>T	14.37:g.20917122C>A							p.R186_splice	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	5	913	-	all_cancers(95;0.00123)	all_lung(585;0.235)							Splice_Site	SNP	ENST00000206542.4	37	c.557_splice	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166095	0.78339	.	.	ENSG00000092094	ENST00000206542;ENST00000554249;ENST00000555223	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3663	0.94464	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSGEP	19986962	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.150000	0.77403	2.873000	0.98535	0.563000	0.77884	.		0.458	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807	Intron	18	241	1	0	1.33834e-09	0.007413	1.89434e-09	18	241				
MYH6	4624	broad.mit.edu	37	14	23867979	23867979	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:23867979G>A	ENST00000356287.3	-	14	1878	c.1849C>T	c.(1849-1851)Ctc>Ttc	p.L617F	MYH6_ENST00000405093.3_Missense_Mutation_p.L617F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	617	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.L617F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTGGCCATGAGCTTGAGGGAG	0.577																																							uc001wjv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1849-1851)CTC>TTC		myosin heavy chain 6							169.0	147.0	154.0					14																	23867979		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23867979G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1849C>T	14.37:g.23867979G>A	ENSP00000348634:p.Leu617Phe						p.L617F	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1916	-	all_cancers(95;2.54e-05)		617			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1849C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	19.01	3.744205	0.69418	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88124	-2.34;-2.34	4.61	4.61	0.57282	Myosin head, motor domain (2);	.	.	.	.	D	0.89276	0.6669	L	0.57130	1.785	0.43698	D	0.996158	P	0.45126	0.851	P	0.52424	0.698	D	0.90396	0.4399	9	0.87932	D	0	.	13.4794	0.61326	0.0:0.0:0.8433:0.1567	.	617	P13533	MYH6_HUMAN	F	617	ENSP00000386041:L617F;ENSP00000348634:L617F	ENSP00000348634:L617F	L	-	1	0	MYH6	22937819	0.520000	0.26250	1.000000	0.80357	0.909000	0.53808	1.217000	0.32455	2.284000	0.76573	0.655000	0.94253	CTC		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			6	109	0	0	0	0.001984	0	6	109				
FITM1	161247	broad.mit.edu	37	14	24601569	24601569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:24601569G>T	ENST00000267426.5	+	2	705	c.416G>T	c.(415-417)gGc>gTc	p.G139V	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	139					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.G139V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CGGGGAGCCGGCCGGGCCTTC	0.667																																							uc001wmf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GGC>GTC		fat-inducing transcript 1							26.0	29.0	28.0					14																	24601569		2202	4297	6499	SO:0001583	missense	161247				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		g.chr14:24601569G>T		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.416G>T	14.37:g.24601569G>T	ENSP00000267426:p.Gly139Val						p.G139V	NM_203402	NP_981947	A5D6W6	FITM1_HUMAN			2	514	+			139			Extracellular (Potential).		Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.416G>T	CCDS9611.1	.	.	.	.	.	.	.	.	.	.	g	7.486	0.649618	0.14516	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.36	5.36	0.76844	.	0.134765	0.51477	D	0.000091	T	0.23094	0.0558	N	0.01048	-1.04	0.80722	D	1	P	0.41008	0.735	B	0.42282	0.382	T	0.32455	-0.9906	9	0.42905	T	0.14	-10.0868	12.344	0.55109	0.0:0.1701:0.8299:0.0	.	139	A5D6W6	FITM1_HUMAN	V	139	.	ENSP00000267426:G139V	G	+	2	0	FITM1	23671409	0.965000	0.33210	0.923000	0.36655	0.263000	0.26337	2.376000	0.44292	2.506000	0.84524	0.462000	0.41574	GGC		0.667	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		21	32	1	0	2.89027e-11	0.002299	4.29634e-11	21	32				
CMA1	1215	broad.mit.edu	37	14	24976618	24976618	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:24976618A>G	ENST00000250378.3	-	2	182	c.153T>C	c.(151-153)tgT>tgC	p.C51C	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	51	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C51C(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GGAAACCACCACAAAATTTTG	0.488																																							uc001wpp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(151-153)TGT>TGC		chymase 1, mast cell preproprotein							149.0	144.0	146.0					14																	24976618		2203	4300	6503	SO:0001819	synonymous_variant	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976618A>G		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.153T>C	14.37:g.24976618A>G						CMA1_uc010alx.1_Intron	p.C51C	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	183	-			51			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Silent	SNP	ENST00000250378.3	37	c.153T>C	CCDS9630.1																																																																																				0.488	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			64	115	0	0	0	0.00361	0	64	115				
NOVA1	4857	broad.mit.edu	37	14	26917470	26917470	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:26917470C>A	ENST00000539517.2	-	5	1536	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	NOVA1_ENST00000267422.7_Missense_Mutation_p.A285S|NOVA1_ENST00000465357.2_Missense_Mutation_p.A383S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	410	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A407S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGGCACTGGCAGCTAGGGGA	0.498																																							uc001wpy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(1219-1221)GCC>TCC		neuro-oncological ventral antigen 1 isoform 1							62.0	63.0	63.0					14																	26917470		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917470C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1219G>T	14.37:g.26917470C>A	ENSP00000438875:p.Ala407Ser					NOVA1_uc001wpz.2_Missense_Mutation_p.A383S|NOVA1_uc001wqa.2_Missense_Mutation_p.A285S	p.A407S	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1537	-			410			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1219G>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094954	0.36952	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.36157	1.35;1.31;1.27	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.50069	0.1594	L	0.43152	1.355	0.80722	D	1	P;P;B	0.52463	0.953;0.774;0.119	D;P;B	0.65443	0.935;0.526;0.287	T	0.17837	-1.0356	10	0.07325	T	0.83	-4.5027	20.3151	0.98650	0.0:1.0:0.0:0.0	.	410;383;407	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	S	383;407;285	ENSP00000447391:A383S;ENSP00000438875:A407S;ENSP00000267422:A285S	ENSP00000267422:A285S	A	-	1	0	NOVA1	25987310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	GCC		0.498	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		22	40	1	0	1.10513e-12	0.002299	1.69681e-12	22	40				
AKAP6	9472	broad.mit.edu	37	14	33293232	33293232	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:33293232A>G	ENST00000280979.4	+	13	6383	c.6213A>G	c.(6211-6213)ctA>ctG	p.L2071L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2071	PKA-RII subunit binding domain.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.L2071L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGACAGCCCTAAAAAGTAAAT	0.433																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(6211-6213)CTA>CTG		A-kinase anchor protein 6							54.0	52.0	53.0					14																	33293232		2202	4300	6502	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293232A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6213A>G	14.37:g.33293232A>G							p.L2071L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6383	+	Breast(36;0.0388)|Prostate(35;0.15)		2071			PKA-RII subunit binding domain.		A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.6213A>G	CCDS9644.1																																																																																				0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		5	59	0	0	0	0.001168	0	5	59				
DDHD1	80821	broad.mit.edu	37	14	53570567	53570567	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:53570567A>C	ENST00000323669.5	-	2	845	c.846T>G	c.(844-846)gaT>gaG	p.D282E	DDHD1_ENST00000395606.1_Missense_Mutation_p.D282E|DDHD1_ENST00000357758.3_Missense_Mutation_p.D282E	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	282					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D282E(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTGGTATTTTATCAGCCTCTG	0.358																																							uc001xai.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(844-846)GAT>GAG		DDHD domain containing 1 isoform c							55.0	53.0	53.0					14																	53570567		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53570567A>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.846T>G	14.37:g.53570567A>C	ENSP00000327104:p.Asp282Glu					DDHD1_uc001xaj.2_Missense_Mutation_p.D282E|DDHD1_uc001xah.2_Missense_Mutation_p.D282E	p.D282E	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			2	1076	-	Breast(41;0.037)		282					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.846T>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908295	0.33721	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.26	4.1	0.47936	.	0.101103	0.64402	D	0.000003	T	0.18841	0.0452	N	0.13327	0.33	0.32774	N	0.503456	B;B;B	0.26547	0.01;0.152;0.019	B;B;B	0.25987	0.013;0.065;0.01	T	0.19289	-1.0310	9	0.09084	T	0.74	-20.9475	3.3459	0.07134	0.6241:0.1194:0.0751:0.1813	.	282;282;282	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	E	282;282;282;153	.	ENSP00000327104:D282E	D	-	3	2	DDHD1	52640317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.986000	0.40677	2.118000	0.64928	0.482000	0.46254	GAT		0.358	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			5	31	0	0	0	0.000602	0	5	31				
BMP4	652	broad.mit.edu	37	14	54416766	54416766	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:54416766C>A	ENST00000245451.4	-	4	1604	c.1211G>T	c.(1210-1212)gGa>gTa	p.G404V	BMP4_ENST00000559087.1_Missense_Mutation_p.G404V|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000417573.1_Missense_Mutation_p.G404V|BMP4_ENST00000558984.1_Missense_Mutation_p.G404V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	404					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)	p.G404V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GCACCCACATCCCTCTACTAC	0.498																																							uc001xal.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1210-1212)GGA>GTA		bone morphogenetic protein 4 preproprotein							123.0	102.0	109.0					14																	54416766		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54416766C>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1211G>T	14.37:g.54416766C>A	ENSP00000245451:p.Gly404Val					BMP4_uc010aoh.2_Missense_Mutation_p.G404V|BMP4_uc001xao.3_Missense_Mutation_p.G404V|BMP4_uc001xan.3_Missense_Mutation_p.G404V	p.G404V	NM_130851	NP_570912	P12644	BMP4_HUMAN			3	1398	-			404					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.1211G>T	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593784	0.66219	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.64438	-0.1;-0.1	5.4	5.4	0.78164	Transforming growth factor-beta, C-terminal (3);	0.098661	0.64402	D	0.000001	D	0.83839	0.5341	M	0.94101	3.495	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.87623	0.2511	10	0.87932	D	0	.	16.7038	0.85366	0.0:1.0:0.0:0.0	.	404	P12644	BMP4_HUMAN	V	404	ENSP00000245451:G404V;ENSP00000394165:G404V	ENSP00000245451:G404V	G	-	2	0	BMP4	53486516	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	7.644000	0.83416	2.813000	0.96785	0.561000	0.74099	GGA		0.498	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		21	36	1	0	8.10497e-08	0.010504	1.07323e-07	21	36				
SGPP1	81537	broad.mit.edu	37	14	64152941	64152941	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:64152941C>T	ENST00000247225.6	-	3	1302	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	403					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.R403Q(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TCTTGCTTTTCGAATATCATC	0.348																																							uc001xgj.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(1207-1209)CGA>CAA		sphingosine-1-phosphate phosphatase 1							153.0	135.0	141.0					14																	64152941		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64152941C>T	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1208G>A	14.37:g.64152941C>T	ENSP00000247225:p.Arg403Gln						p.R403Q	NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1302	-			403					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1208G>A	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449073	0.63178	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.072428	0.56097	D	0.000033	T	0.61887	0.2383	M	0.76002	2.32	0.52501	D	0.999953	D	0.58970	0.984	P	0.47673	0.554	T	0.58792	-0.7574	9	0.14252	T	0.57	-1.5609	14.7663	0.69642	0.0:0.9316:0.0:0.0684	.	403	Q9BX95	SGPP1_HUMAN	Q	403	.	ENSP00000247225:R403Q	R	-	2	0	SGPP1	63222694	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	4.625000	0.61262	2.885000	0.99019	0.655000	0.94253	CGA		0.348	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		6	103	0	0	0	0.001168	0	6	103				
SYNE2	23224	broad.mit.edu	37	14	64653253	64653253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:64653253C>T	ENST00000344113.4	+	97	17880	c.17668C>T	c.(17668-17670)Caa>Taa	p.Q5890*	SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.Q2275*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.Q2524*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q5890*|SYNE2_ENST00000357395.3_Nonsense_Mutation_p.Q2275*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5890					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q5890*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGAAGGAGCAAATAGAGCA	0.483																																							uc001xgm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(17668-17670)CAA>TAA		spectrin repeat containing, nuclear envelope 2							135.0	129.0	131.0					14																	64653253		2203	4300	6503	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64653253C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17668C>T	14.37:g.64653253C>T	ENSP00000341781:p.Gln5890*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q5890*|SYNE2_uc010apy.2_Nonsense_Mutation_p.Q2275*|SYNE2_uc001xgn.2_Nonsense_Mutation_p.Q852*|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Nonsense_Mutation_p.Q255*	p.Q5890*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	97	17898	+			5890			Spectrin 4.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.17668C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	39	7.691364	0.98434	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	.	.	.	5.87	5.87	0.94306	.	0.151093	0.31177	N	0.008112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.2045	0.98273	0.0:1.0:0.0:0.0	.	.	.	.	X	5890;2275;5890;2524;2275	.	ENSP00000341781:Q5890X	Q	+	1	0	SYNE2	63723006	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.461000	0.80834	2.780000	0.95670	0.650000	0.86243	CAA		0.483	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	140	0	0	0	0.003163	0	14	140				
ADAM21P1	145241	broad.mit.edu	37	14	70713178	70713178	+	RNA	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:70713178C>T	ENST00000530196.1	-	0	1340					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AGATTTCCCCCAATCTTGGAG	0.448																																							uc010ttg.1		NA																	0					0						c.(688-690)TTG>TTA		SubName: Full=ADAM21-like protein;																																						145241							g.chr14:70713178C>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713178C>T							p.L230L	NR_003951						1	1341	-									Silent	SNP	ENST00000530196.1	37	c.690G>A																																																																																					0.448	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		31	52	0	0	0	0.002096	0	31	52				
YLPM1	56252	broad.mit.edu	37	14	75269332	75269332	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:75269332C>G	ENST00000552421.1	+	5	2480	c.2356C>G	c.(2356-2358)Cag>Gag	p.Q786E	YLPM1_ENST00000238571.3_Missense_Mutation_p.Q1297E|YLPM1_ENST00000325680.7_Missense_Mutation_p.Q1492E			P49750	YLPM1_HUMAN	YLP motif containing 1	1297					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Q1492E(1)|p.Q1297E(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTACCACCTCAGGAATCAAG	0.403																																							uc001xqj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4474-4476)CAG>GAG		YLP motif containing 1							84.0	79.0	81.0					14																	75269332		1863	4111	5974	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75269332C>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2356C>G	14.37:g.75269332C>G	ENSP00000447921:p.Gln786Glu					YLPM1_uc001xql.3_RNA	p.Q1492E	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	6	4598	+			1297					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4474C>G		.	.	.	.	.	.	.	.	.	.	C	4.913	0.169573	0.09339	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.76	4.82	0.62117	.	0.226724	0.31347	N	0.007813	T	0.22322	0.0538	N	0.12182	0.205	0.20403	N	0.999902	B	0.06786	0.001	B	0.08055	0.003	T	0.08554	-1.0716	9	0.02654	T	1	-2.6448	14.6372	0.68699	0.0:0.855:0.145:0.0	.	1492	P49750-4	.	E	786;1492;1297;1205	.	ENSP00000238571:Q1297E	Q	+	1	0	YLPM1	74339085	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.140000	0.50585	2.724000	0.93272	0.551000	0.68910	CAG		0.403	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		6	57	0	0	0	0.001168	0	6	57				
GPR65	8477	broad.mit.edu	37	14	88477441	88477441	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:88477441C>T	ENST00000267549.3	+	2	808	c.250C>T	c.(250-252)Cct>Tct	p.P84S	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	84					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P84S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GACTTTCTCTCCTGCCTTGTG	0.403																																							uc001xvv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(250-252)CCT>TCT		G protein-coupled receptor 65							188.0	183.0	184.0					14																	88477441		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477441C>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.250C>T	14.37:g.88477441C>T	ENSP00000267549:p.Pro84Ser						p.P84S	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	780	+			84			Extracellular (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.250C>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	C	8.594	0.885240	0.17540	.	.	ENSG00000140030	ENST00000267549	T	0.70986	-0.53	5.82	-1.07	0.09968	GPCR, rhodopsin-like superfamily (1);	0.131595	0.34879	N	0.003604	T	0.50667	0.1629	L	0.38692	1.165	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.24835	-1.0149	10	0.19147	T	0.46	.	5.4701	0.16666	0.1019:0.1867:0.5269:0.1845	.	84	Q8IYL9	PSYR_HUMAN	S	84	ENSP00000267549:P84S	ENSP00000267549:P84S	P	+	1	0	GPR65	87547194	0.000000	0.05858	0.000000	0.03702	0.895000	0.52256	-2.400000	0.01049	-0.159000	0.11021	0.650000	0.86243	CCT		0.403	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			61	119	0	0	0	0.00361	0	61	119				
SERPINA11	256394	broad.mit.edu	37	14	94914523	94914523	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:94914523G>T	ENST00000334708.3	-	2	653	c.589C>A	c.(589-591)Ccg>Acg	p.P197T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	197					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P379T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGAACTCCGGGAGGCAGTCC	0.458																																							uc001ydd.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(589-591)CCG>ACG		serpin peptidase inhibitor, clade A (alpha-1							103.0	105.0	104.0					14																	94914523		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914523G>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.589C>A	14.37:g.94914523G>T	ENSP00000335024:p.Pro197Thr						p.P197T	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	649	-			197					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.589C>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	2.944	-0.218234	0.06101	.	.	ENSG00000186910	ENST00000334708	D	0.88201	-2.35	5.04	3.21	0.36854	Serpin domain (3);	1.141260	0.06487	N	0.733924	D	0.86381	0.5919	L	0.46567	1.45	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.71826	-0.4475	10	0.38643	T	0.18	.	12.1568	0.54081	0.0:0.4586:0.4281:0.1133	.	197	Q86U17	SPA11_HUMAN	T	197	ENSP00000335024:P197T	ENSP00000335024:P197T	P	-	1	0	SERPINA11	93984276	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.375000	0.20518	0.710000	0.31997	0.655000	0.94253	CCG		0.458	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		56	101	1	0	2.73381e-35	0.00361	5.14678e-35	56	101				
SYNE3	161176	broad.mit.edu	37	14	95910916	95910916	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:95910916T>A	ENST00000334258.5	-	9	1696	c.1682A>T	c.(1681-1683)cAg>cTg	p.Q561L	SYNE3_ENST00000557275.1_Missense_Mutation_p.Q561L|SYNE3_ENST00000553340.1_Missense_Mutation_p.Q561L|SYNE3_ENST00000554873.1_Missense_Mutation_p.Q318L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	561					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.Q561L(3)		breast(1)|endometrium(2)|lung(25)	28						GAGCTTCCTCTGCAGGGGCTC	0.577																																							uc001yei.3		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(1681-1683)CAG>CTG		nesprin-3							49.0	48.0	49.0					14																	95910916		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95910916T>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1682A>T	14.37:g.95910916T>A	ENSP00000334308:p.Gln561Leu					C14orf49_uc010avi.2_Missense_Mutation_p.Q561L|C14orf49_uc001yej.1_Missense_Mutation_p.Q561L	p.Q561L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	9	1697	-		all_cancers(154;0.0937)	561			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1682A>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105465	0.37145	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.30714	1.52;2.35;1.52;2.71	5.41	4.26	0.50523	.	0.686795	0.11928	N	0.516016	T	0.31765	0.0807	M	0.76002	2.32	0.25941	N	0.982873	P;P;P	0.47762	0.9;0.707;0.839	B;B;B	0.40066	0.318;0.234;0.169	T	0.15780	-1.0425	10	0.21014	T	0.42	-12.8351	8.3877	0.32510	0.0:0.1535:0.0:0.8465	.	561;561;561	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	L	561;318;561;561	ENSP00000334308:Q561L;ENSP00000452154:Q318L;ENSP00000450562:Q561L;ENSP00000450774:Q561L	ENSP00000334308:Q561L	Q	-	2	0	C14orf49	94980669	0.997000	0.39634	0.060000	0.19600	0.090000	0.18270	1.579000	0.36536	0.898000	0.36418	0.454000	0.30748	CAG		0.577	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		6	34	0	0	0	0.001168	0	6	34				
ATG2B	55102	broad.mit.edu	37	14	96807883	96807883	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:96807883C>T	ENST00000359933.4	-	6	1793	c.900G>A	c.(898-900)caG>caA	p.Q300Q		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	300					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.Q300Q(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCACTTCATTCTGTTTCAACG	0.398																																							uc001yfi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(898-900)CAG>CAA		ATG2 autophagy related 2 homolog B							132.0	128.0	129.0					14																	96807883		1922	4125	6047	SO:0001819	synonymous_variant	55102							g.chr14:96807883C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.900G>A	14.37:g.96807883C>T							p.Q300Q	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	6	1265	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	300					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.900G>A	CCDS9944.2																																																																																				0.398	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		60	104	0	0	0	0.00361	0	60	104				
TECPR2	9895	broad.mit.edu	37	14	102964478	102964478	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:102964478G>T	ENST00000359520.7	+	20	4346	c.4120G>T	c.(4120-4122)Ggc>Tgc	p.G1374C		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1374					autophagy (GO:0006914)|cell death (GO:0008219)			p.G1374C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGGCCCGCCCGGCTACCTCCT	0.622																																							uc001ylw.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(4120-4122)GGC>TGC		tectonin beta-propeller repeat containing 2							57.0	60.0	59.0					14																	102964478		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102964478G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.4120G>T	14.37:g.102964478G>T	ENSP00000352510:p.Gly1374Cys					TECPR2_uc010txx.1_Missense_Mutation_p.G537C	p.G1374C	NM_014844	NP_055659	O15040	TCPR2_HUMAN			20	4268	+			1374					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.4120G>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931752	0.92389	.	.	ENSG00000196663	ENST00000359520	T	0.19806	2.12	5.52	5.52	0.82312	.	0.114138	0.64402	D	0.000016	T	0.47154	0.1430	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.38628	-0.9652	10	0.87932	D	0	.	19.4029	0.94637	0.0:0.0:1.0:0.0	.	557;1374	B4DSD3;O15040	.;TCPR2_HUMAN	C	1374	ENSP00000352510:G1374C	ENSP00000352510:G1374C	G	+	1	0	TECPR2	102034231	1.000000	0.71417	0.933000	0.37362	0.783000	0.44284	9.060000	0.93907	2.761000	0.94854	0.655000	0.94253	GGC		0.622	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		25	55	1	0	6.38683e-12	0.008361	9.65233e-12	25	55				
CDCA4	55038	broad.mit.edu	37	14	105477708	105477708	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:105477708G>C	ENST00000336219.3	-	2	714	c.559C>G	c.(559-561)Ccc>Gcc	p.P187A	CDCA4_ENST00000392590.3_Missense_Mutation_p.P187A	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	187						nucleus (GO:0005634)		p.P187A(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TCGTAGTAGGGGCTGTCCACG	0.582																																							uc001yqa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)CCC>GCC		cell division cycle associated 4							70.0	66.0	67.0					14																	105477708		2203	4300	6503	SO:0001583	missense	55038					nucleus		g.chr14:105477708G>C	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.559C>G	14.37:g.105477708G>C	ENSP00000337226:p.Pro187Ala					CDCA4_uc001yqb.2_Missense_Mutation_p.P187A	p.P187A	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	655	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	187					Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.559C>G	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	G	5.971	0.363145	0.11296	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.40225	1.04;1.04	4.62	-4.26	0.03755	.	0.237041	0.44483	D	0.000455	T	0.24084	0.0583	N	0.22421	0.69	0.09310	N	0.999999	B	0.26195	0.144	B	0.19148	0.024	T	0.05517	-1.0880	10	0.59425	D	0.04	5.0E-4	12.7323	0.57204	0.9024:0.0:0.0976:0.0	.	187	Q9BXL8	CDCA4_HUMAN	A	187	ENSP00000337226:P187A;ENSP00000376369:P187A	ENSP00000337226:P187A	P	-	1	0	CDCA4	104548753	0.158000	0.22850	0.005000	0.12908	0.098000	0.18820	0.845000	0.27668	-1.048000	0.03238	-0.145000	0.13849	CCC		0.582	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		6	63	0	0	0	0.001168	0	6	63				
CDCA4	55038	broad.mit.edu	37	14	105477746	105477746	+	Missense_Mutation	SNP	G	G	C	rs368242903		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:105477746G>C	ENST00000336219.3	-	2	676	c.521C>G	c.(520-522)cCc>cGc	p.P174R	CDCA4_ENST00000392590.3_Missense_Mutation_p.P174R	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	174						nucleus (GO:0005634)		p.P174R(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CATGCAGCTGGGGTTTTTAGT	0.562																																							uc001yqa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(520-522)CCC>CGC		cell division cycle associated 4							85.0	81.0	82.0					14																	105477746		2203	4300	6503	SO:0001583	missense	55038					nucleus		g.chr14:105477746G>C	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.521C>G	14.37:g.105477746G>C	ENSP00000337226:p.Pro174Arg					CDCA4_uc001yqb.2_Missense_Mutation_p.P174R	p.P174R	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	617	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	174					Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.521C>G	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205668	0.39003	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.41065	1.01;1.01	4.62	3.65	0.41850	.	0.242826	0.43260	D	0.000599	T	0.40015	0.1100	L	0.46157	1.445	0.42605	D	0.993296	P	0.46277	0.875	P	0.44647	0.456	T	0.37337	-0.9710	10	0.46703	T	0.11	-16.4192	12.8852	0.58040	0.0:0.0:0.8369:0.1631	.	174	Q9BXL8	CDCA4_HUMAN	R	174	ENSP00000337226:P174R;ENSP00000376369:P174R	ENSP00000337226:P174R	P	-	2	0	CDCA4	104548791	1.000000	0.71417	0.142000	0.22268	0.063000	0.16089	6.170000	0.71920	2.288000	0.76882	0.650000	0.86243	CCC		0.562	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		4	65	0	0	0	0.009096	0	4	65				
RPS8P10	388076	broad.mit.edu	37	15	22440647	22440647	+	IGR	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:22440647C>T								RP11-2F9.4 (4470 upstream) : IGHV1OR15-1 (7734 downstream)																							TTCTGAGCCCCAGGAGAAATT	0.517																																							uc001yug.2		NA																	0					NA						c.(199-201)TGG>TAG		full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr15:22440647C>T																													15.37:g.22440647C>T							p.W67*							1	219	-									Nonsense_Mutation	SNP		37	c.200G>A																																																																																				0	0.517									6	17	0	0	0	0.001168	0	6	17				
SLC12A6	9990	broad.mit.edu	37	15	34536239	34536239	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:34536239C>A	ENST00000354181.3	-	16	2470	c.1978G>T	c.(1978-1980)Gca>Tca	p.A660S	SLC12A6_ENST00000451844.2_Missense_Mutation_p.A472S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A472S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A660S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A601S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A645S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A601S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A651S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A609S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A660S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	660					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.A609S(1)|p.A651S(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGGCACATGCCAAGTTTACA	0.378																																							uc001zhw.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(1978-1980)GCA>TCA		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						133.0	127.0	129.0					15																	34536239		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34536239C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1978G>T	15.37:g.34536239C>A	ENSP00000346112:p.Ala660Ser					SLC12A6_uc001zhv.2_Missense_Mutation_p.A609S|SLC12A6_uc001zhx.2_Missense_Mutation_p.A645S|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.A601S|SLC12A6_uc001zib.2_Missense_Mutation_p.A651S|SLC12A6_uc001zic.2_Missense_Mutation_p.A660S|SLC12A6_uc010bau.2_Missense_Mutation_p.A660S|SLC12A6_uc001zid.2_Missense_Mutation_p.A601S|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.A472S	p.A660S	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	15	2142	-		all_lung(180;2.78e-08)	660			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.1978G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934506	0.92458	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	4.83	4.83	0.62350	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	L	0.47190	1.495	0.80722	D	1	P;P;P;P	0.49783	0.825;0.928;0.881;0.471	P;P;P;B	0.59487	0.514;0.759;0.858;0.315	D	0.99338	1.0911	10	0.87932	D	0	.	16.8582	0.86011	0.0:1.0:0.0:0.0	.	645;660;609;472	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	S	609;645;651;601;601;472	ENSP00000290209:A609S;ENSP00000380819:A645S;ENSP00000380814:A601S;ENSP00000387725:A601S;ENSP00000390199:A472S	ENSP00000290209:A609S	A	-	1	0	SLC12A6	32323531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.497000	0.84241	0.555000	0.69702	GCA		0.378	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		32	73	1	0	4.11147e-13	0.003755	6.38917e-13	32	73				
LTK	4058	broad.mit.edu	37	15	41797642	41797642	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:41797642C>G	ENST00000263800.6	-	14	1880	c.1784G>C	c.(1783-1785)gGa>gCa	p.G595A	LTK_ENST00000453182.2_Missense_Mutation_p.G465A|LTK_ENST00000561619.1_Missense_Mutation_p.G293A|LTK_ENST00000355166.5_Missense_Mutation_p.G534A	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	595	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G595A(1)|p.G534A(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CATGTCCCCTCCAGACATCAG	0.597										TSP Lung(18;0.14)																													uc001zoa.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(6)|central_nervous_system(1)	7						c.(1783-1785)GGA>GCA		leukocyte receptor tyrosine kinase isoform 1							48.0	52.0	51.0					15																	41797642		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797642C>G	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1784G>C	15.37:g.41797642C>G	ENSP00000263800:p.Gly595Ala	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.G534A|LTK_uc010ucx.1_Missense_Mutation_p.G465A|LTK_uc010bcg.2_Missense_Mutation_p.G293A	p.G595A	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	14	1962	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	595			Protein kinase.|Cytoplasmic (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1784G>C	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510185	0.85282	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;T	0.90676	-2.71;-2.71;-0.22	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.94205	0.8140	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.992;0.993	D	0.94714	0.7895	9	0.66056	D	0.02	.	16.0174	0.80450	0.0:1.0:0.0:0.0	.	465;465;534;595	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	A	534;595;465	ENSP00000347293:G534A;ENSP00000263800:G595A;ENSP00000392196:G465A	ENSP00000263800:G595A	G	-	2	0	LTK	39584934	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.464000	0.66719	2.294000	0.77228	0.491000	0.48974	GGA		0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			8	26	0	0	0	0.004482	0	8	26				
PLA2G4F	255189	broad.mit.edu	37	15	42436333	42436333	+	Missense_Mutation	SNP	G	G	T	rs533703193		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:42436333G>T	ENST00000382396.4	-	18	2071	c.1985C>A	c.(1984-1986)cCg>cAg	p.P662Q	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.P664Q			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	662	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.P662Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAAGGCGTCCGGGTGTGTGTC	0.572																																							uc001zoz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1984-1986)CCG>CAG		phospholipase A2, group IVF							84.0	71.0	75.0					15																	42436333		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42436333G>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1985C>A	15.37:g.42436333G>T	ENSP00000371833:p.Pro662Gln					PLA2G4F_uc010bcq.2_Intron|PLA2G4F_uc001zoy.2_Missense_Mutation_p.P294Q|PLA2G4F_uc010bcr.2_Missense_Mutation_p.P413Q|PLA2G4F_uc001zpa.2_Missense_Mutation_p.P413Q|PLA2G4F_uc010bcs.2_Missense_Mutation_p.P449Q	p.P662Q	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	18	2048	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	662			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1985C>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448152	0.43429	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.13657	2.57;2.57	5.79	-7.08	0.01558	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.791425	0.11589	N	0.548917	T	0.14056	0.0340	M	0.73962	2.25	0.21762	N	0.999551	B;B	0.15930	0.015;0.008	B;B	0.14023	0.01;0.01	T	0.22417	-1.0217	10	0.62326	D	0.03	-3.7733	9.5863	0.39519	0.5547:0.2637:0.1817:0.0	.	449;662	A2RRC4;Q68DD2	.;PA24F_HUMAN	Q	658;664;662;662	ENSP00000380442:P664Q;ENSP00000371833:P662Q	ENSP00000290497:P658Q	P	-	2	0	PLA2G4F	40223625	0.000000	0.05858	0.000000	0.03702	0.381000	0.30169	-0.511000	0.06321	-1.530000	0.01751	0.609000	0.83330	CCG		0.572	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		11	54	1	0	0.000673444	0.008291	0.000753709	11	54				
SEMA6D	80031	broad.mit.edu	37	15	48062872	48062872	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:48062872C>A	ENST00000316364.5	+	19	2551	c.2112C>A	c.(2110-2112)gcC>gcA	p.A704A	SEMA6D_ENST00000389432.2_Silent_p.A661A|SEMA6D_ENST00000358066.4_Silent_p.A642A|SEMA6D_ENST00000389428.3_Silent_p.A629A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Silent_p.A648A|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Silent_p.A704A|SEMA6D_ENST00000389433.2_Silent_p.A685A|SEMA6D_ENST00000537942.1_Silent_p.A642A|SEMA6D_ENST00000558014.1_Silent_p.A642A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	704					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A704A(1)|p.A642A(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGAGTCCGCCCAGTCATGCA	0.438																																							uc010bek.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|breast(1)	4						c.(2110-2112)GCC>GCA		semaphorin 6D isoform 4 precursor							99.0	93.0	95.0					15																	48062872		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48062872C>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2112C>A	15.37:g.48062872C>A						SEMA6D_uc001zvw.2_Silent_p.A642A|SEMA6D_uc001zvy.2_Silent_p.A704A|SEMA6D_uc001zvz.2_Silent_p.A648A|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.A642A|SEMA6D_uc001zwc.2_Silent_p.A629A	p.A704A	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2472	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	704			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.2112C>A	CCDS32225.1																																																																																				0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		27	69	1	0	7.26314e-15	0.007291	1.17739e-14	27	69				
SECISBP2L	9728	broad.mit.edu	37	15	49284854	49284854	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:49284854C>T	ENST00000559471.1	-	18	3156	c.2893G>A	c.(2893-2895)Gat>Aat	p.D965N	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D920N	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	965							poly(A) RNA binding (GO:0044822)	p.D920N(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CAACTGCCATCCAAAGAGCCA	0.493																																							uc001zxe.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2893-2895)GAT>AAT		SECIS binding protein 2-like							133.0	122.0	125.0					15																	49284854		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284854C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2893G>A	15.37:g.49284854C>T	ENSP00000453854:p.Asp965Asn					SECISBP2L_uc001zxd.1_Missense_Mutation_p.D920N	p.D965N	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3027	-			965					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2893G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053683	0.93793	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.75704	-0.96	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	L	0.29908	0.895	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.78102	-0.2335	10	0.34782	T	0.22	.	18.9031	0.92451	0.0:1.0:0.0:0.0	.	965;920	Q93073;Q93073-2	SBP2L_HUMAN;.	N	920;965	ENSP00000261847:D920N	ENSP00000261847:D920N	D	-	1	0	SECISBP2L	47072146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.300000	0.78841	2.702000	0.92279	0.655000	0.94253	GAT		0.493	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		42	51	0	0	0	0.006999	0	42	51				
DTWD1	56986	broad.mit.edu	37	15	49935624	49935624	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:49935624A>T	ENST00000251250.6	+	6	971	c.764A>T	c.(763-765)tAc>tTc	p.Y255F	DTWD1_ENST00000403028.3_Missense_Mutation_p.Y255F|DTWD1_ENST00000558653.1_Missense_Mutation_p.Y255F|DTWD1_ENST00000415425.1_Missense_Mutation_p.Y168F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	255								p.Y255F(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		GAAGCCATTTACTACTTTCTG	0.328																																							uc001zxq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(763-765)TAC>TTC		DTW domain containing 1							55.0	60.0	58.0					15																	49935624		2194	4292	6486	SO:0001583	missense	56986							g.chr15:49935624A>T	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.764A>T	15.37:g.49935624A>T	ENSP00000251250:p.Tyr255Phe					DTWD1_uc001zxs.2_Missense_Mutation_p.Y255F|DTWD1_uc001zxr.2_Missense_Mutation_p.Y168F|DTWD1_uc001zxo.2_Missense_Mutation_p.Y255F	p.Y255F	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)	6	1041	+		all_lung(180;0.0384)	255					Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	c.764A>T	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954467	0.92726	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.35605	1.3;1.3	5.52	5.52	0.82312	DTW (1);	0.056241	0.64402	D	0.000001	T	0.61763	0.2373	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.64449	-0.6405	9	.	.	.	-10.4172	15.6564	0.77140	1.0:0.0:0.0:0.0	.	168;255	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	F	255;255;168	ENSP00000385399:Y255F;ENSP00000251250:Y255F	.	Y	+	2	0	DTWD1	47722916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	2.100000	0.63781	0.533000	0.62120	TAC		0.328	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		25	58	0	0	0	0.00632	0	25	58				
HDC	3067	broad.mit.edu	37	15	50534698	50534698	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:50534698C>A	ENST00000267845.3	-	12	2150	c.1748G>T	c.(1747-1749)cGc>cTc	p.R583L	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.R550L	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.R583L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACTGAGGGAGCGCACCGTCTT	0.542																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1747-1749)CGC>CTC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						167.0	176.0	173.0					15																	50534698		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534698C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1748G>T	15.37:g.50534698C>A	ENSP00000267845:p.Arg583Leu					HDC_uc001zxy.2_Missense_Mutation_p.R326L|HDC_uc010uff.1_Missense_Mutation_p.R550L	p.R583L	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1854	-		all_lung(180;0.0138)	583						Missense_Mutation	SNP	ENST00000267845.3	37	c.1748G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230686	0.58777	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.22743	2.46;1.94	5.68	5.68	0.88126	.	0.645193	0.14441	N	0.319397	T	0.41811	0.1175	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.20505	-1.0273	10	0.87932	D	0	-18.4835	19.786	0.96437	0.0:1.0:0.0:0.0	.	550;583	B7ZM01;P19113	.;DCHS_HUMAN	L	583;550	ENSP00000267845:R583L;ENSP00000440252:R550L	ENSP00000267845:R583L	R	-	2	0	HDC	48321990	0.999000	0.42202	0.737000	0.30932	0.033000	0.12548	5.198000	0.65147	2.676000	0.91093	0.563000	0.77884	CGC		0.542	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			67	173	1	0	2.84776e-26	0.00361	5.14735e-26	67	173				
FAM81A	145773	broad.mit.edu	37	15	59752207	59752207	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:59752207G>T	ENST00000288228.5	+	3	283	c.96G>T	c.(94-96)caG>caT	p.Q32H		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	32								p.Q29H(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TCGTGGAGCAGCTGGAAGACA	0.542																																							uc002agc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)CAG>CAT		hypothetical protein LOC145773							37.0	41.0	40.0					15																	59752207		1976	4173	6149	SO:0001583	missense	145773							g.chr15:59752207G>T		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.96G>T	15.37:g.59752207G>T	ENSP00000288228:p.Gln32His					FAM81A_uc010uha.1_Missense_Mutation_p.Q32H	p.Q32H	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			3	283	+			32						Missense_Mutation	SNP	ENST00000288228.5	37	c.96G>T	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061930	0.36373	.	.	ENSG00000157470	ENST00000288228	T	0.31247	1.5	5.57	-3.24	0.05094	.	0.094135	0.47093	D	0.000248	T	0.43545	0.1252	L	0.55990	1.75	0.32213	N	0.576252	D;P	0.89917	1.0;0.891	D;P	0.70935	0.971;0.73	T	0.51896	-0.8647	10	0.54805	T	0.06	-25.9428	13.3547	0.60621	0.2552:0.0:0.7448:0.0	.	29;32	B4DRE4;Q8TBF8	.;FA81A_HUMAN	H	32	ENSP00000288228:Q32H	ENSP00000288228:Q32H	Q	+	3	2	FAM81A	57539499	0.822000	0.29219	0.975000	0.42487	0.537000	0.34900	-0.102000	0.10956	-0.610000	0.05716	-1.166000	0.01754	CAG		0.542	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		10	14	1	0	1.11149e-13	0.008291	1.74841e-13	10	14				
VPS13C	54832	broad.mit.edu	37	15	62325678	62325678	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:62325678G>A	ENST00000261517.5	-	5	420	c.347C>T	c.(346-348)tCc>tTc	p.S116F	VPS13C_ENST00000395898.3_Missense_Mutation_p.S116F|VPS13C_ENST00000395896.4_Missense_Mutation_p.S116F|VPS13C_ENST00000249837.3_Missense_Mutation_p.S116F	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.S116F(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCAATTCGGGATAGCTCTTT	0.289																																							uc002agz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(346-348)TCC>TTC		vacuolar protein sorting 13C protein isoform 2A							75.0	72.0	73.0					15																	62325678		2203	4296	6499	SO:0001583	missense	54832				protein localization			g.chr15:62325678G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.347C>T	15.37:g.62325678G>A	ENSP00000261517:p.Ser116Phe					VPS13C_uc002aha.2_Missense_Mutation_p.S116F|VPS13C_uc002ahb.1_Missense_Mutation_p.S116F|VPS13C_uc002ahc.1_Missense_Mutation_p.S116F	p.S116F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			5	421	-			116						Missense_Mutation	SNP	ENST00000261517.5	37	c.347C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185033	0.57909	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.57	4.64	0.57946	.	0.608574	0.18083	N	0.152255	T	0.75867	0.3908	L	0.29908	0.895	0.22500	N	0.999042	P;B;P;P	0.38617	0.587;0.035;0.587;0.64	B;B;B;B	0.41619	0.246;0.016;0.246;0.361	T	0.68965	-0.5270	10	0.62326	D	0.03	.	8.9923	0.36030	0.08:0.1566:0.7634:0.0	.	116;116;116;116	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	F	116	ENSP00000249837:S116F;ENSP00000261517:S116F;ENSP00000379233:S116F;ENSP00000379235:S116F	ENSP00000249837:S116F	S	-	2	0	VPS13C	60112970	0.998000	0.40836	0.966000	0.40874	0.976000	0.68499	1.976000	0.40579	1.451000	0.47736	0.650000	0.86243	TCC		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		3	21	0	0	0	0.009096	0	3	21				
TPM1	7168	broad.mit.edu	37	15	63363340	63363340	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:63363340A>T	ENST00000357980.4	+	10	1029	c.950A>T	c.(949-951)gAt>gTt	p.D317V	RP11-244F12.2_ENST00000558905.1_RNA|TPM1_ENST00000559397.1_Missense_Mutation_p.D275V|TPM1_ENST00000404484.4_Missense_Mutation_p.D239V|TPM1_ENST00000559556.1_Missense_Mutation_p.D275V|TPM1_ENST00000358278.3_Missense_Mutation_p.D275V|TPM1_ENST00000267996.7_Missense_Mutation_p.D275V			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	275					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.D275V(2)		endometrium(1)|large_intestine(1)|lung(2)	4						CAGATGCTGGATCAGACTTTA	0.393																																							uc002alm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(949-951)GAT>GTT		tropomyosin 1 alpha chain isoform 6							147.0	136.0	140.0					15																	63363340		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63363340A>T	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000357980.4:c.950A>T	15.37:g.63363340A>T	ENSP00000350667:p.Asp317Val					TPM1_uc010bgn.2_RNA|TPM1_uc002ali.2_Missense_Mutation_p.D275V|TPM1_uc002alj.2_Missense_Mutation_p.D275V|TPM1_uc002alk.2_Missense_Mutation_p.D275V|TPM1_uc002all.2_Missense_Mutation_p.D275V|TPM1_uc010uig.1_Missense_Mutation_p.D239V|TPM1_uc002alt.2_Missense_Mutation_p.D239V|TPM1_uc010bgp.2_Missense_Mutation_p.D149V	p.D317V	NM_001018008	NP_001018008	P09493	TPM1_HUMAN			10	1141	+			275			By similarity.		B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000357980.4	37	c.950A>T		.	.	.	.	.	.	.	.	.	.	A	23.9	4.474522	0.84640	.	.	ENSG00000140416	ENST00000267996;ENST00000358278;ENST00000357980	D;D;D	0.98792	-5.14;-5.14;-5.14	6.02	6.02	0.97574	.	0.000000	0.52532	D	0.000065	D	0.99533	0.9833	H	0.98407	4.225	0.80722	D	1	P;P;P;P;P;P	0.41008	0.606;0.683;0.499;0.501;0.499;0.735	P;P;P;P;P;D	0.63113	0.87;0.7;0.755;0.864;0.838;0.911	D	0.97383	0.9984	10	0.87932	D	0	-15.8851	15.7258	0.77756	1.0:0.0:0.0:0.0	.	239;317;275;275;275;275	B7Z722;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3	.;.;.;.;.;.	V	275;275;317	ENSP00000267996:D275V;ENSP00000351022:D275V;ENSP00000350667:D317V	ENSP00000267996:D275V	D	+	2	0	TPM1	61150393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.122000	0.94380	2.311000	0.77944	0.533000	0.62120	GAT		0.393	TPM1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000417087.2	NM_001018004		22	59	0	0	0	0.00278	0	22	59				
VWA9	81556	broad.mit.edu	37	15	65888105	65888105	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:65888105G>C	ENST00000395644.4	-	7	1142	c.807C>G	c.(805-807)tcC>tcG	p.S269S	VWA9_ENST00000442903.3_Silent_p.S233S|VWA9_ENST00000313182.2_Silent_p.S269S|VWA9_ENST00000420799.2_Silent_p.S212S|VWA9_ENST00000569491.1_Silent_p.S220S|VWA9_ENST00000431261.2_Silent_p.S190S|VWA9_ENST00000567744.1_Silent_p.S305S			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	269								p.S269S(1)									CCAGATGTCTGGACAGAACTG	0.353																																							uc002apd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(805-807)TCC>TCG		hypothetical protein LOC81556 isoform 2							99.0	94.0	95.0					15																	65888105		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65888105G>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.807C>G	15.37:g.65888105G>C						C15orf44_uc010uix.1_Silent_p.S305S|C15orf44_uc010uiz.1_Silent_p.S233S|C15orf44_uc010uja.1_Silent_p.S220S|C15orf44_uc010ujb.1_Silent_p.S190S|C15orf44_uc002ape.3_Silent_p.S269S|C15orf44_uc010uiy.1_Silent_p.S190S	p.S269S	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			7	1143	-			269					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.807C>G																																																																																					0.353	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		12	35	0	0	0	0.00245	0	12	35				
SMAD3	4088	broad.mit.edu	37	15	67473677	67473677	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:67473677C>T	ENST00000327367.4	+	6	1067	c.757C>T	c.(757-759)Cca>Tca	p.P253S	SMAD3_ENST00000540846.2_Missense_Mutation_p.P148S|SMAD3_ENST00000537194.2_Missense_Mutation_p.P58S|SMAD3_ENST00000439724.3_Missense_Mutation_p.P209S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	253	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P209S(1)|p.P253S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CGCCTCGCAGCCATCCATGAC	0.597																																							uc002aqj.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(757-759)CCA>TCA		mothers against decapentaplegic homolog 3							76.0	65.0	69.0					15																	67473677		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473677C>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.757C>T	15.37:g.67473677C>T	ENSP00000332973:p.Pro253Ser					SMAD3_uc010ujr.1_Missense_Mutation_p.P148S|SMAD3_uc010ujs.1_Missense_Mutation_p.P209S|SMAD3_uc010ujt.1_Missense_Mutation_p.P58S	p.P253S	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1055	+			253			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.757C>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562024	0.86335	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.52759	1.655	0.80722	D	1	P;D	0.55800	0.937;0.973	P;P	0.44561	0.453;0.453	D	0.96080	0.9053	10	0.54805	T	0.06	.	18.8753	0.92332	0.0:1.0:0.0:0.0	.	209;253	B7Z4Z5;P84022	.;SMAD3_HUMAN	S	253;253;148;209;58	ENSP00000332973:P253S;ENSP00000437757:P148S;ENSP00000401133:P209S;ENSP00000445348:P58S	ENSP00000332973:P253S	P	+	1	0	SMAD3	65260731	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	7.675000	0.84002	2.515000	0.84797	0.555000	0.69702	CCA		0.597	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		4	37	0	0	0	0.009096	0	4	37				
LARP6	55323	broad.mit.edu	37	15	71124586	71124586	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:71124586G>T	ENST00000299213.8	-	3	1351	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	427					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P427P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTGCCAGAGGGAGTGACGC	0.612																																							uc002ass.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1279-1281)CCC>CCA		La ribonucleoprotein domain family, member 6							68.0	66.0	67.0					15																	71124586		2199	4297	6496	SO:0001819	synonymous_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71124586G>T	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1281C>A	15.37:g.71124586G>T							p.P427P	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			3	1352	-			427					Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	c.1281C>A	CCDS32281.1																																																																																				0.612	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		20	66	1	0	3.51602e-12	0.008871	5.35046e-12	20	66				
PEAK1	79834	broad.mit.edu	37	15	77471194	77471194	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:77471194T>C	ENST00000560626.2	-	4	3550	c.3075A>G	c.(3073-3075)ctA>ctG	p.L1025L	PEAK1_ENST00000558305.1_Silent_p.L1025L|PEAK1_ENST00000312493.4_Silent_p.L1025L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1025					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L1025L(2)									CTGAGTCCTGTAGTAATGCAT	0.458																																							uc002bcm.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(3073-3075)CTA>CTG		NKF3 kinase family member							136.0	125.0	128.0					15																	77471194		1995	4182	6177	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77471194T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3075A>G	15.37:g.77471194T>C						SGK269_uc002bcn.2_Silent_p.L1025L	p.L1025L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	3383	-			1025					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.3075A>G	CCDS42062.1																																																																																				0.458	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			10	54	0	0	0	0.006214	0	10	54				
ALPK3	57538	broad.mit.edu	37	15	85360091	85360091	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:85360091G>T	ENST00000258888.5	+	1	181	c.14G>T	c.(13-15)tGg>tTg	p.W5L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	5					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.W5L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			gaggTGGCTTGGCTTGTCTAT	0.607																																							uc002ble.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(13-15)TGG>TTG		alpha-kinase 3							52.0	49.0	50.0					15																	85360091		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85360091G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.14G>T	15.37:g.85360091G>T	ENSP00000258888:p.Trp5Leu						p.W5L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	181	+			5					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.14G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150685	0.21371	.	.	ENSG00000136383	ENST00000258888	T	0.60672	0.17	3.14	2.2	0.27929	.	.	.	.	.	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15780	-1.0425	9	0.26408	T	0.33	0.589	5.4514	0.16566	0.1593:0.0:0.8407:0.0	.	5	Q96L96	ALPK3_HUMAN	L	5	ENSP00000258888:W5L	ENSP00000258888:W5L	W	+	2	0	ALPK3	83161095	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.085000	0.14912	0.877000	0.35895	0.561000	0.74099	TGG		0.607	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		7	15	1	0	2.0095e-06	0.001984	2.51391e-06	7	15				
GOLGA6L3	100133220	broad.mit.edu	37	15	85787980	85787980	+	IGR	SNP	T	T	G	rs201352385	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:85787980T>G								RP11-561C5.4 (9964 upstream) : RP11-561C5.5 (81644 downstream)																							TACGTGAACATGAGGAGAGGC	0.562													g|||	1285	0.256589	0.4501	0.1744	5008	,	,		13696	0.248		0.1143	False		,,,				2504	0.2086						uc010upj.1		NA																	0					NA						c.(721-723)CAT>CAG		golgi autoantigen, golgin subfamily a, 6D-like																																				SO:0001628	intergenic_variant	0							g.chr15:85787980T>G																													15.37:g.85787980T>G						uc010upk.1_5'Flank	p.H241Q	NM_198181	NP_937824					6	788	+									Missense_Mutation	SNP		37	c.723T>G																																																																																				0	0.562									2	7	0	0	0	0.004672	0	2	7				
AGBL1	123624	broad.mit.edu	37	15	87089343	87089343	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:87089343C>A	ENST00000441037.2	+	19	2753	c.2658C>A	c.(2656-2658)atC>atA	p.I886I	AGBL1_ENST00000389298.3_Silent_p.I617I|AGBL1_ENST00000421325.2_Silent_p.I886I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	886					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.I886I(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CATCTACTATCCTAGAGGAGG	0.473																																							uc002blz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2656-2658)ATC>ATA		ATP/GTP binding protein-like 1							82.0	76.0	78.0					15																	87089343		1990	4196	6186	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87089343C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2658C>A	15.37:g.87089343C>A							p.I886I	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			19	2738	+			886					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2658C>A	CCDS58398.1																																																																																				0.473	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		13	29	1	0	0.000219431	0.00245	0.000251245	13	29				
KIF7	374654	broad.mit.edu	37	15	90172699	90172699	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:90172699G>T	ENST00000394412.3	-	17	3500	c.3424C>A	c.(3424-3426)Ctg>Atg	p.L1142M	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1142					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L629M(1)|p.L1142M(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCCGCTCCAGGGCCACCTCC	0.637																																							uc002bof.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(3424-3426)CTG>ATG		kinesin family member 7							63.0	61.0	62.0					15																	90172699		2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90172699G>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3424C>A	15.37:g.90172699G>T	ENSP00000377934:p.Leu1142Met					KIF7_uc010upw.1_Missense_Mutation_p.L628M|C15orf42_uc010upv.1_RNA	p.L1142M	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		17	3501	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1142			Potential.		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.3424C>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	g	15.43	2.831620	0.50845	.	.	ENSG00000166813	ENST00000394412	T	0.73897	-0.79	4.88	2.92	0.33932	.	0.222050	0.39274	N	0.001408	T	0.81805	0.4900	M	0.67397	2.05	0.39082	D	0.960929	D;D	0.69078	0.997;0.993	D;P	0.64506	0.926;0.796	D	0.83420	0.0032	10	0.48119	T	0.1	.	12.3084	0.54915	0.0:0.1664:0.7228:0.1108	.	628;1142	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	1142	ENSP00000377934:L1142M	ENSP00000377934:L1142M	L	-	1	2	KIF7	87973703	0.998000	0.40836	0.996000	0.52242	0.942000	0.58702	2.518000	0.45537	1.294000	0.44707	-0.358000	0.07595	CTG		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		15	38	1	0	8.60227e-14	0.004007	1.35455e-13	15	38				
CRTC3	64784	broad.mit.edu	37	15	91172586	91172586	+	Missense_Mutation	SNP	C	C	T	rs375397418		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr15:91172586C>T	ENST00000268184.6	+	11	1092	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	CRTC3_ENST00000420329.2_Missense_Mutation_p.S363L|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	363					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.S363L(2)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTTCACCCTTCGCTCCGTCTG	0.552			T	MAML2	salivary gland mucoepidermoid								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20145	0.0		0.0	False		,,,				2504	0.0						uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	2	Substitution - Missense(2)		lung(2)	salivary_gland(26)|ovary(1)	27						c.(1087-1089)TCG>TTG		transducer of regulated CREB protein 3 isoform		C	LEU/SER,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	284.0	277.0	280.0		1088,1088	5.2	0.7	15		280	0,8596		0,0,4298	no	missense,missense	CRTC3	NM_001042574.1,NM_022769.3	145,145	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	363/619,363/620	91172586	1,12991	2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172586C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1088C>T	15.37:g.91172586C>T	ENSP00000268184:p.Ser363Leu					CRTC3_uc002bpo.2_Missense_Mutation_p.S363L	p.S363L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1194	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		363					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1088C>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330903	0.41297	2.27E-4	0.0	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.14516	2.5;2.5	5.18	5.18	0.71444	.	0.448742	0.23571	N	0.046757	T	0.18425	0.0442	M	0.66939	2.045	0.53688	D	0.999976	P;P	0.48589	0.858;0.912	B;B	0.40659	0.181;0.336	T	0.02326	-1.1176	10	0.32370	T	0.25	-10.4455	16.2411	0.82409	0.0:1.0:0.0:0.0	.	363;363	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	L	327;363;363	ENSP00000268184:S363L;ENSP00000416573:S363L	ENSP00000268184:S363L	S	+	2	0	CRTC3	88973590	0.781000	0.28676	0.655000	0.29622	0.083000	0.17756	2.367000	0.44213	2.687000	0.91594	0.655000	0.94253	TCG		0.552	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		21	285	0	0	0	0.002299	0	21	285				
PKD1	5310	broad.mit.edu	37	16	2160773	2160773	+	Silent	SNP	G	G	A	rs369961970		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:2160773G>A	ENST00000262304.4	-	15	4603	c.4395C>T	c.(4393-4395)ccC>ccT	p.P1465P	PKD1_ENST00000423118.1_Silent_p.P1465P|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1465	PKD 9. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.P1465P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGACCAGCACGGGCTCCTGCA	0.622																																							uc002cos.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(4393-4395)CCC>CCT		polycystin 1 isoform 1 precursor		G	,	0,4384		0,0,2192	34.0	39.0	37.0		4395,4395	-11.1	0.0	16		37	1,8569		0,1,4284	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,1,6476	AA,AG,GG		0.0117,0.0,0.0077	,	1465/4303,1465/4304	2160773	1,12953	2192	4285	6477	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160773G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4395C>T	16.37:g.2160773G>A						PKD1_uc002cot.1_Silent_p.P1465P	p.P1465P	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	4604	-			1465			Extracellular (Potential).|PKD 9.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.4395C>T	CCDS32369.1																																																																																				0.622	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	82	0	0	0	0.00308	0	7	82				
C16orf59	80178	broad.mit.edu	37	16	2511049	2511049	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:2511049C>A	ENST00000361837.4	+	4	494	c.429C>A	c.(427-429)cgC>cgA	p.R143R	C16orf59_ENST00000569496.1_Silent_p.R143R|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Silent_p.R143R|C16orf59_ENST00000483320.1_5'UTR	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	143								p.R143R(1)		lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				AGGGCCTCCGCCAGACCACGG	0.687																																							uc002cqh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)CGC>CGA		hypothetical protein LOC80178							39.0	46.0	44.0					16																	2511049		2040	4168	6208	SO:0001819	synonymous_variant	80178							g.chr16:2511049C>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.429C>A	16.37:g.2511049C>A						C16orf59_uc002cqf.1_Silent_p.R143R|C16orf59_uc002cqg.1_5'UTR|C16orf59_uc002cqi.2_5'UTR|C16orf59_uc010uwb.1_5'UTR	p.R143R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN			4	460	+		Ovarian(90;0.17)	143					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.429C>A	CCDS10468.2																																																																																				0.687	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		9	54	1	0	2.27111e-07	0.001368	2.94651e-07	9	54				
GRIN2A	2903	broad.mit.edu	37	16	9934562	9934562	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:9934562C>A	ENST00000396573.2	-	8	1902	c.1593G>T	c.(1591-1593)acG>acT	p.T531T	GRIN2A_ENST00000562109.1_Silent_p.T531T|GRIN2A_ENST00000396575.2_Silent_p.T531T|GRIN2A_ENST00000404927.2_Silent_p.T531T|GRIN2A_ENST00000535259.1_Silent_p.T374T|GRIN2A_ENST00000330684.3_Silent_p.T531T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	531			T -> M (in FESD; affects receptor kinetics). {ECO:0000269|PubMed:23933818}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T531T(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACTGATTCCCGTTTCCACAA	0.468																																							uc002czo.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1591-1593)ACG>ACT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						135.0	107.0	116.0					16																	9934562		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934562C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1593G>T	16.37:g.9934562C>A						GRIN2A_uc010uym.1_Silent_p.T531T|GRIN2A_uc010uyn.1_Silent_p.T374T|GRIN2A_uc002czr.3_Silent_p.T531T	p.T531T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			7	2141	-			531			Extracellular (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1593G>T	CCDS10539.1																																																																																				0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			8	54	1	0	0.000274275	0.004482	0.000311722	8	54				
GRIN2A	2903	broad.mit.edu	37	16	9943758	9943758	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:9943758A>T	ENST00000396573.2	-	6	1492	c.1183T>A	c.(1183-1185)Tcc>Acc	p.S395T	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S395T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S395T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S395T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S238T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S395T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	395					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S395T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCGGAGAAGGACTTGTACCTG	0.582																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1183-1185)TCC>ACC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						134.0	110.0	118.0					16																	9943758		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943758A>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1183T>A	16.37:g.9943758A>T	ENSP00000379818:p.Ser395Thr					GRIN2A_uc010uym.1_Missense_Mutation_p.S395T|GRIN2A_uc010uyn.1_Missense_Mutation_p.S238T|GRIN2A_uc002czr.3_Missense_Mutation_p.S395T	p.S395T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			5	1731	-			395			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1183T>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.513690	0.44763	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.22	5.22	0.72569	.	0.051648	0.85682	D	0.000000	T	0.08403	0.0209	L	0.60455	1.87	0.44485	D	0.997422	P;B;B	0.39940	0.696;0.354;0.231	B;B;B	0.38225	0.268;0.09;0.054	T	0.17077	-1.0381	9	.	.	.	.	10.4635	0.44594	0.837:0.163:0.0:0.0	.	238;395;395	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	395;395;238;395;395	ENSP00000379818:S395T;ENSP00000385872:S395T;ENSP00000441572:S238T;ENSP00000332549:S395T;ENSP00000379820:S395T	.	S	-	1	0	GRIN2A	9851259	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.558000	0.53749	1.968000	0.57251	0.533000	0.62120	TCC		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	74	0	0	0	0.001984	0	6	74				
CPPED1	55313	broad.mit.edu	37	16	12875245	12875245	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:12875245C>A	ENST00000381774.4	-	2	326	c.86G>T	c.(85-87)tGg>tTg	p.W29L	CPPED1_ENST00000433677.2_Missense_Mutation_p.W29L|CPPED1_ENST00000261660.4_Missense_Mutation_p.W29L	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	29						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.W29L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGGCCTTTCCATTCGCTTTC	0.473																																							uc002dca.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(85-87)TGG>TTG		calcineurin-like phosphoesterase domain							57.0	56.0	56.0					16																	12875245		1916	4111	6027	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12875245C>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.86G>T	16.37:g.12875245C>A	ENSP00000371193:p.Trp29Leu					CPPED1_uc002dcb.3_Missense_Mutation_p.W29L	p.W29L	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			2	197	-			29					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.86G>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506576	0.85282	.	.	ENSG00000103381	ENST00000381774;ENST00000433677;ENST00000261660	T;T;T	0.02974	4.25;4.09;4.25	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.85130	0.997;0.854	T	0.00052	-1.2190	10	0.87932	D	0	-14.0475	16.6988	0.85343	0.0:1.0:0.0:0.0	.	29;29	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	L	29	ENSP00000371193:W29L;ENSP00000411127:W29L;ENSP00000261660:W29L	ENSP00000261660:W29L	W	-	2	0	CPPED1	12782746	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.347000	0.79356	2.527000	0.85204	0.563000	0.77884	TGG		0.473	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		6	37	1	0	0.00116845	0.001168	0.0012964	6	37				
PDXDC1	23042	broad.mit.edu	37	16	15111246	15111246	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:15111246G>T	ENST00000396410.4	+	11	1027	c.930G>T	c.(928-930)gcG>gcT	p.A310A	PDXDC1_ENST00000569715.1_Silent_p.A283A|PDXDC1_ENST00000447912.2_Silent_p.A219A|PDXDC1_ENST00000455313.2_Silent_p.A287A|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000535621.2_Silent_p.A310A|PDXDC1_ENST00000450288.2_Silent_p.A282A|PDXDC1_ENST00000563679.1_Silent_p.A328A|PDXDC1_ENST00000325823.7_Silent_p.A295A	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	310					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.A310A(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTTCCTGCGGTGACACTGT	0.498																																							uc002dda.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(928-930)GCG>GCT		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						101.0	104.0	103.0					16																	15111246		2196	4300	6496	SO:0001819	synonymous_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15111246G>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.930G>T	16.37:g.15111246G>T						PDXDC1_uc010uzl.1_Silent_p.A295A|PDXDC1_uc010uzm.1_Silent_p.A219A|PDXDC1_uc002dcz.2_Silent_p.A287A|PDXDC1_uc002ddb.3_Silent_p.A283A|PDXDC1_uc010uzn.1_Silent_p.A282A|PDXDC1_uc002ddc.2_Silent_p.A310A	p.A310A	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			11	1154	+			310					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	c.930G>T	CCDS32393.1																																																																																				0.498	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		12	162	1	0	0.000422831	0.004007	0.000478794	12	162				
ABCC1	4363	broad.mit.edu	37	16	16162136	16162136	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:16162136A>G	ENST00000399410.3	+	13	1976	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	ABCC1_ENST00000349029.5_Missense_Mutation_p.M601V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601V|ABCC1_ENST00000399408.2_Missense_Mutation_p.M601V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	601	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.M601V(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CATTCTCCCCATGGTCATCAG	0.577																																							uc010bvi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1801-1803)ATG>GTG		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						184.0	170.0	175.0					16																	16162136		2057	4197	6254	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16162136A>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1801A>G	16.37:g.16162136A>G	ENSP00000382342:p.Met601Val					ABCC1_uc010bvj.2_Missense_Mutation_p.M601V|ABCC1_uc010bvk.2_Missense_Mutation_p.M601V|ABCC1_uc010bvl.2_Missense_Mutation_p.M601V|ABCC1_uc010bvm.2_Missense_Mutation_p.M601V|ABCC1_uc002del.3_Missense_Mutation_p.M485V	p.M601V	NM_004996	NP_004987	P33527	MRP1_HUMAN			13	1976	+			601			ABC transmembrane type-1 1.|Helical; Name=11.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1801A>G	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000496	0.54147	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	4.61	4.61	0.57282	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.078123	0.85682	D	0.000000	T	0.50292	0.1607	L	0.61036	1.89	0.51767	D	0.999937	D;B;B;B;B;B	0.58268	0.982;0.002;0.001;0.274;0.001;0.001	D;B;B;B;B;B	0.68943	0.961;0.005;0.007;0.188;0.005;0.011	T	0.51687	-0.8674	10	0.56958	D	0.05	-38.181	12.8427	0.57813	1.0:0.0:0.0:0.0	.	601;601;601;601;601;601	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	V	601;601;601;601;601;601;275	ENSP00000382342:M601V;ENSP00000382340:M601V;ENSP00000263019:M601V;ENSP00000263017:M601V;ENSP00000263014:M601V;ENSP00000263016:M601V	ENSP00000263014:M601V	M	+	1	0	ABCC1	16069637	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.213000	0.42844	1.714000	0.51371	0.379000	0.24179	ATG		0.577	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		10	130	0	0	0	0.001368	0	10	130				
CCP110	9738	broad.mit.edu	37	16	19548650	19548650	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:19548650A>T	ENST00000381396.5	+	4	1906	c.1659A>T	c.(1657-1659)ttA>ttT	p.L553F	CCP110_ENST00000396212.2_Missense_Mutation_p.L553F|CCP110_ENST00000396208.2_Missense_Mutation_p.L553F	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	553	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.L553F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTTCTCCTTTATTGATGCAAA	0.388																																							uc002dgl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1657-1659)TTA>TTT		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							100.0	101.0	101.0					16																	19548650		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19548650A>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1659A>T	16.37:g.19548650A>T	ENSP00000370803:p.Leu553Phe					CP110_uc002dgk.3_Missense_Mutation_p.L553F	p.L553F			O43303	CP110_HUMAN			4	1906	+			553			Interaction with CEP76.		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.1659A>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273364	0.59649	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.24538	1.85;1.86;1.85	5.54	2.54	0.30619	.	0.173967	0.37304	N	0.002141	T	0.41328	0.1154	L	0.58101	1.795	0.37163	D	0.90266	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.47249	-0.9132	10	0.72032	D	0.01	-0.2451	8.3637	0.32374	0.7136:0.2156:0.0708:0.0	.	553;553	O43303;O43303-2	CP110_HUMAN;.	F	553	ENSP00000379515:L553F;ENSP00000370803:L553F;ENSP00000379511:L553F	ENSP00000370803:L553F	L	+	3	2	CCP110	19456151	0.996000	0.38824	1.000000	0.80357	0.951000	0.60555	0.511000	0.22739	2.086000	0.62901	0.460000	0.39030	TTA		0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		19	52	0	0	0	0.002299	0	19	52				
GPR139	124274	broad.mit.edu	37	16	20043588	20043588	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:20043588G>T	ENST00000570682.1	-	2	831	c.531C>A	c.(529-531)acC>acA	p.T177T		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	177					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.T177T(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GATGCACAGAGGTGCTGATGT	0.498																																							uc002dgu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(529-531)ACC>ACA		G protein-coupled receptor 139							139.0	105.0	117.0					16																	20043588		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043588G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.531C>A	16.37:g.20043588G>T						GPR139_uc010vaw.1_Silent_p.T84T	p.T177T	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	693	-			177			Extracellular (Potential).		A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.531C>A	CCDS32398.1																																																																																				0.498	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		19	61	1	0	1.45105e-14	0.006122	2.33503e-14	19	61				
ACSM2A	123876	broad.mit.edu	37	16	20491921	20491921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:20491921C>A	ENST00000573854.1	+	11	1422	c.1308C>A	c.(1306-1308)aaC>aaA	p.N436K	ACSM2A_ENST00000396104.2_Missense_Mutation_p.N436K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N357K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N436K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N436K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.N208K	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	436					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.N436K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCAGCCAACATTCGAGGAG	0.502																																							uc010bwe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(1306-1308)AAC>AAA		acyl-CoA synthetase medium-chain family member							122.0	98.0	106.0					16																	20491921		2203	4298	6501	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491921C>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1308C>A	16.37:g.20491921C>A	ENSP00000459451:p.Asn436Lys					ACSM2A_uc010vax.1_Missense_Mutation_p.N357K|ACSM2A_uc002dhf.3_Missense_Mutation_p.N436K|ACSM2A_uc002dhg.3_Missense_Mutation_p.N436K|ACSM2A_uc010vay.1_Missense_Mutation_p.N357K|ACSM2A_uc002dhh.3_Missense_Mutation_p.N66K	p.N436K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			12	1547	+			436					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1308C>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650032	0.29336	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.22	-0.464	0.12160	AMP-dependent synthetase/ligase (1);	0.699846	0.12233	N	0.487229	T	0.12603	0.0306	N	0.01874	-0.695	0.09310	N	1	B;P	0.37233	0.127;0.588	B;B	0.41271	0.017;0.352	T	0.09840	-1.0656	10	0.41790	T	0.15	-11.1778	0.1232	0.00066	0.2915:0.2155:0.1558:0.3372	.	357;436	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	K	357;436;208;436	ENSP00000392169:N357K;ENSP00000219054:N436K;ENSP00000445082:N208K;ENSP00000379411:N436K	ENSP00000219054:N436K	N	+	3	2	ACSM2A	20399422	0.000000	0.05858	0.798000	0.32154	0.865000	0.49528	-1.569000	0.02142	0.422000	0.26005	0.298000	0.19748	AAC		0.502	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		6	168	1	0	0.000157383	0.00308	0.000180738	6	168				
ACSM2B	348158	broad.mit.edu	37	16	20554314	20554314	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:20554314C>A	ENST00000329697.6	-	12	1599	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E398D|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E477D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E477D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	477					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E477D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CATTCTCTACCTCCGAGGGTC	0.577																																							uc002dhj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1429-1431)GAG>GAT		acyl-CoA synthetase medium-chain family member							110.0	106.0	108.0					16																	20554314		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554314C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1431G>T	16.37:g.20554314C>A	ENSP00000327453:p.Glu477Asp					ACSM2B_uc002dhk.3_Missense_Mutation_p.E477D|ACSM2B_uc010bwf.1_Missense_Mutation_p.E477D	p.E477D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			13	1641	-			477					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1431G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607611	0.46527	.	.	ENSG00000066813	ENST00000329697	T	0.72835	-0.69	3.1	2.13	0.27403	AMP-dependent synthetase/ligase (1);	0.394295	0.19588	N	0.110682	T	0.76090	0.3939	M	0.62016	1.91	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.64687	0.928;0.928	T	0.74061	-0.3786	10	0.87932	D	0	-12.5928	4.8599	0.13579	0.0:0.5505:0.0:0.4495	.	477;477	A8K051;Q68CK6	.;ACS2B_HUMAN	D	477	ENSP00000327453:E477D	ENSP00000327453:E477D	E	-	3	2	ACSM2B	20461815	0.995000	0.38212	0.998000	0.56505	0.571000	0.35966	0.177000	0.16801	0.643000	0.30638	0.508000	0.49915	GAG		0.577	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		14	82	1	0	1.05317e-09	0.00245	1.50035e-09	14	82				
DNAH3	55567	broad.mit.edu	37	16	21073886	21073886	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:21073886C>T	ENST00000261383.3	-	25	3636	c.3637G>A	c.(3637-3639)Gac>Aac	p.D1213N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1213N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1213	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D1213N(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCAGATTGTCTGTAAACTCA	0.463																																							uc010vbe.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3637-3639)GAC>AAC		dynein, axonemal, heavy chain 3							146.0	135.0	138.0					16																	21073886		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21073886C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3637G>A	16.37:g.21073886C>T	ENSP00000261383:p.Asp1213Asn						p.D1213N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	25	3637	-			1213			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3637G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931752	0.52866	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61158	0.13;0.13	5.9	4.95	0.65309	Dynein heavy chain, domain-2 (1);	0.363846	0.28327	N	0.015754	T	0.48519	0.1504	L	0.37897	1.145	0.36683	D	0.879165	B	0.13594	0.008	B	0.16289	0.015	T	0.51505	-0.8697	10	0.44086	T	0.13	.	14.4828	0.67594	0.0:0.9301:0.0:0.0699	.	1213	Q8TD57	DYH3_HUMAN	N	1213	ENSP00000261383:D1213N;ENSP00000394245:D1213N	ENSP00000261383:D1213N	D	-	1	0	DNAH3	20981387	0.005000	0.15991	0.997000	0.53966	0.869000	0.49853	0.704000	0.25661	2.797000	0.96272	0.655000	0.94253	GAC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	100	0	0	0	0.006122	0	14	100				
VWA3A	146177	broad.mit.edu	37	16	22152985	22152985	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:22152985G>C	ENST00000389398.5	+	24	2562	c.2466G>C	c.(2464-2466)ctG>ctC	p.L822L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	822						extracellular region (GO:0005576)		p.L18L(1)|p.L822L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTCTTTTACTGTTCTACACAG	0.537																																							uc010vbq.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2464-2466)CTG>CTC		von Willebrand factor A domain containing 3A							73.0	79.0	77.0					16																	22152985		1987	4160	6147	SO:0001819	synonymous_variant	146177					extracellular region		g.chr16:22152985G>C	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2466G>C	16.37:g.22152985G>C						VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_5'Flank	p.L822L	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	24	2562	+			822					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	c.2466G>C	CCDS45441.1																																																																																				0.537	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	18	0	0	0	0.000602	0	5	18				
IL4R	3566	broad.mit.edu	37	16	27374420	27374420	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:27374420G>A	ENST00000395762.2	+	11	2006	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	IL4R_ENST00000543915.2_Missense_Mutation_p.E583K|IL4R_ENST00000170630.2_Missense_Mutation_p.E583K|IL4R_ENST00000380922.3_Missense_Mutation_p.E568K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	583	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.E583K(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ACATGCGGTGGAGCAGGGTGG	0.647																																							uc002don.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1747-1749)GAG>AAG		interleukin 4 receptor alpha chain isoform a							30.0	35.0	33.0					16																	27374420		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374420G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1747G>A	16.37:g.27374420G>A	ENSP00000379111:p.Glu583Lys					IL4R_uc002dop.3_Missense_Mutation_p.E568K|IL4R_uc010bxy.2_Missense_Mutation_p.E583K|IL4R_uc002doo.2_Missense_Mutation_p.E423K	p.E583K	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	1989	+			583			Required for IL4-induced gene expression.|Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1747G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.543981	0.04024	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	5.09	-4.85	0.03142	.	4.253780	0.00166	N	0.000004	T	0.02119	0.0066	N	0.02391	-0.57	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39292	-0.9621	10	0.02654	T	1	-13.6686	5.7692	0.18243	0.4373:0.2455:0.3171:0.0	.	568;583;583	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	K	583;583;568;583	ENSP00000379111:E583K;ENSP00000441667:E583K;ENSP00000370309:E568K;ENSP00000170630:E583K	ENSP00000170630:E583K	E	+	1	0	IL4R	27281921	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.518000	0.06267	-1.414000	0.02025	-1.189000	0.01698	GAG		0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			11	45	0	0	0	0.000978	0	11	45				
ATP2A1	487	broad.mit.edu	37	16	28905841	28905841	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:28905841G>T	ENST00000357084.3	+	11	1467	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	ATP2A1_ENST00000536376.1_Missense_Mutation_p.K275N|ATP2A1_ENST00000395503.4_Missense_Mutation_p.K400N	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	400	Interacts with phospholamban 1. {ECO:0000250}.				apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.K400N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGAATGATAAGCCAGTCCGGC	0.572																																							uc002dro.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1198-1200)AAG>AAT		ATPase, Ca++ transporting, fast twitch 1 isoform							46.0	39.0	41.0					16																	28905841		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28905841G>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1200G>T	16.37:g.28905841G>T	ENSP00000349595:p.Lys400Asn					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.K400N|ATP2A1_uc002drp.1_Missense_Mutation_p.K275N	p.K400N	NM_173201	NP_775293	O14983	AT2A1_HUMAN			11	1384	+			400			Interacts with phospholamban 1 (By similarity).|Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1200G>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356872	0.41801	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82893	-1.66;-1.66;-1.66	5.39	2.26	0.28386	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.272209	0.24120	U	0.041364	T	0.74749	0.3757	L	0.45744	1.44	0.31246	N	0.694608	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.003;0.008;0.005	T	0.67154	-0.5742	10	0.34782	T	0.22	.	8.4663	0.32958	0.3437:0.0:0.6563:0.0	.	275;400;400	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	N	400;400;437;275	ENSP00000349595:K400N;ENSP00000378879:K400N;ENSP00000443101:K275N	ENSP00000349595:K400N	K	+	3	2	ATP2A1	28813342	0.933000	0.31639	1.000000	0.80357	0.996000	0.88848	1.128000	0.31369	0.217000	0.20800	0.650000	0.86243	AAG		0.572	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		8	30	1	0	5.18039e-06	0.00308	6.37205e-06	8	30				
SEPT1	1731	broad.mit.edu	37	16	30392511	30392511	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30392511G>T	ENST00000571393.1	-	7	681	c.495C>A	c.(493-495)atC>atA	p.I165I	SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Silent_p.I170I|SEPT1_ENST00000321367.3_Silent_p.I212I			Q8WYJ6	SEPT1_HUMAN	septin 1	165	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.I165I(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TGACTGGGATGATGTTGACTT	0.587																																							uc002dxy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(493-495)ATC>ATA		septin 1							170.0	154.0	159.0					16																	30392511		2197	4300	6497	SO:0001819	synonymous_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30392511G>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.495C>A	16.37:g.30392511G>T						SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR	p.I165I	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		7	682	-			165					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37	c.495C>A																																																																																					0.587	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		20	130	1	0	1.96292e-10	0.010504	2.8626e-10	20	130				
ITGAL	3683	broad.mit.edu	37	16	30495236	30495236	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30495236G>A	ENST00000356798.6	+	8	991	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.G188S|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	271	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.G271S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CACTGACAGTGGCAACATCGA	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(811-813)GGC>AGC		integrin alpha L isoform a precursor	Efalizumab(DB00095)						184.0	162.0	169.0					16																	30495236		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495236G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.811G>A	16.37:g.30495236G>A	ENSP00000349252:p.Gly271Ser					ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Missense_Mutation_p.G188S|ITGAL_uc010vev.1_Intron	p.G271S	NM_002209	NP_002200	P20701	ITAL_HUMAN			8	987	+			271			VWFA.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.811G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663321	0.14710	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.20069	2.1;2.1	5.97	4.0	0.46444	von Willebrand factor, type A (3);	0.561914	0.16056	N	0.231729	T	0.16685	0.0401	N	0.25144	0.715	0.26046	N	0.981548	B;B	0.33448	0.412;0.412	B;B	0.40134	0.32;0.173	T	0.23833	-1.0177	10	0.22109	T	0.4	.	9.6714	0.40015	0.0755:0.141:0.7836:0.0	.	188;271	Q96HB1;P20701	.;ITAL_HUMAN	S	271;188	ENSP00000349252:G271S;ENSP00000350886:G188S	ENSP00000349252:G271S	G	+	1	0	ITGAL	30402737	0.016000	0.18221	0.002000	0.10522	0.064000	0.16182	1.885000	0.39678	0.854000	0.35336	0.591000	0.81541	GGC		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			29	161	0	0	0	0.002096	0	29	161				
SRCAP	10847	broad.mit.edu	37	16	30723384	30723384	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30723384G>T	ENST00000262518.4	+	12	2106	c.1721G>T	c.(1720-1722)gGg>gTg	p.G574V	SRCAP_ENST00000344771.4_Missense_Mutation_p.G574V|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.G574V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	574					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.G574V(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTACTCCAGGGCCCACTACT	0.537																																							uc002dze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1720-1722)GGG>GTG		Snf2-related CBP activator protein							87.0	85.0	85.0					16																	30723384		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723384G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1721G>T	16.37:g.30723384G>T	ENSP00000262518:p.Gly574Val					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.G431V|SRCAP_uc010bzz.1_Missense_Mutation_p.G144V	p.G574V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		12	2106	+			574					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1721G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	8.418	0.845619	0.16963	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91843	-2.92;-2.89;-2.87	4.66	4.66	0.58398	.	0.000000	0.49916	D	0.000132	D	0.91610	0.7349	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.91797	0.5448	10	0.44086	T	0.13	-13.814	14.9122	0.70767	0.0:0.0:1.0:0.0	.	574;574;574	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	574	ENSP00000262518:G574V;ENSP00000378499:G574V;ENSP00000343042:G574V	ENSP00000262518:G574V	G	+	2	0	SRCAP	30630885	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	5.448000	0.66612	2.576000	0.86940	0.563000	0.77884	GGG		0.537	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		19	59	1	0	1.01871e-10	0.008871	1.49983e-10	19	59				
SRCAP	10847	broad.mit.edu	37	16	30748500	30748501	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:30748500_30748501GG>TT	ENST00000262518.4	+	34	7524_7525	c.7139_7140GG>TT	c.(7138-7140)cGG>cTT	p.R2380L	SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222L|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2380					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R2380L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCACCCACCGGCGCAGTAAAA	0.649																																							uc002dze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(7138-7140)CGG>CTT		Snf2-related CBP activator protein																																				SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748500_30748501GG>TT	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	Exception_encountered	16.37:g.30748500_30748501delinsTT	ENSP00000262518:p.Arg2380Leu					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2175L	p.R2380L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7524_7525	+			2380					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	DNP	ENST00000262518.4	37	c.7139_7140GG>TT	CCDS10689.2																																																																																				0.649	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		5	21	0	0	0	0.004672	0	5	21				
STX4	6810	broad.mit.edu	37	16	31046343	31046343	+	Silent	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:31046343A>C	ENST00000313843.3	+	5	675	c.360A>C	c.(358-360)acA>acC	p.T120T	STX4_ENST00000394998.1_Silent_p.T118T|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	120					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)		p.T120T(1)		NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCGTCAACACAAGAATGAGAA	0.443																																							uc002eal.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)ACA>ACC		syntaxin 4							70.0	77.0	75.0					16																	31046343		2197	4300	6497	SO:0001819	synonymous_variant	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31046343A>C	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.360A>C	16.37:g.31046343A>C						STX4_uc002eak.2_Silent_p.T118T|STX4_uc002eam.2_Silent_p.T42T	p.T120T	NM_004604	NP_004595	Q12846	STX4_HUMAN			5	584	+			120			Cytoplasmic (Potential).|Potential.		A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	37	c.360A>C	CCDS10700.1																																																																																				0.443	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		8	98	0	0	0	0.00308	0	8	98				
TGFB1I1	7041	broad.mit.edu	37	16	31485036	31485036	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:31485036G>A	ENST00000394863.3	+	3	293	c.163G>A	c.(163-165)Gac>Aac	p.D55N	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.D38N|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.D38N|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.D38N	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	55	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D55N(1)|p.D38N(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGCCTCGGGGGACAAGGACCA	0.637																																							uc002ecd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(163-165)GAC>AAC		transforming growth factor beta 1 induced							65.0	73.0	71.0					16																	31485036		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485036G>A	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.163G>A	16.37:g.31485036G>A	ENSP00000378332:p.Asp55Asn					TGFB1I1_uc002ece.1_Missense_Mutation_p.D38N|TGFB1I1_uc010caq.1_5'UTR	p.D55N	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			3	189	+			55			Transcription activation (By similarity).|Interaction with PTK2B.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.163G>A	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936235	0.52972	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.42513	0.97;0.97;0.97	5.05	5.05	0.67936	.	0.112447	0.64402	D	0.000015	T	0.40322	0.1112	L	0.50333	1.59	0.50467	D	0.999873	B	0.27625	0.183	B	0.26693	0.072	T	0.30504	-0.9976	10	0.51188	T	0.08	.	15.942	0.79763	0.0:0.0:1.0:0.0	.	55	O43294	TGFI1_HUMAN	N	55;38;38	ENSP00000378332:D55N;ENSP00000355117:D38N;ENSP00000378327:D38N	ENSP00000355117:D38N	D	+	1	0	TGFB1I1	31392537	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.029000	0.41098	2.620000	0.88729	0.555000	0.69702	GAC		0.637	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			8	103	0	0	0	0.00308	0	8	103				
NETO2	81831	broad.mit.edu	37	16	47117419	47117419	+	Missense_Mutation	SNP	C	C	T	rs555638989		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:47117419C>T	ENST00000562435.1	-	9	1675	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	NETO2_ENST00000303155.5_Missense_Mutation_p.A424T	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	431					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.A431S(1)|p.A431T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CAGCGGGAGGCGGTGGAGGAG	0.527										HNSCC(25;0.065)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17158	0.0		0.0	False		,,,				2504	0.001						uc002eer.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1291-1293)GCC>ACC		neuropilin- and tolloid-like protein 2							96.0	88.0	91.0					16																	47117419		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47117419C>T	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1291G>A	16.37:g.47117419C>T	ENSP00000455169:p.Ala431Thr	HNSCC(25;0.065)				NETO2_uc002eeq.1_Missense_Mutation_p.A166T|NETO2_uc010vgf.1_Missense_Mutation_p.A288T	p.A431T	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			9	1676	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	431			Cytoplasmic (Potential).		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.1291G>A	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146806	0.21288	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.78	3.8	0.43715	.	0.168392	0.56097	D	0.000021	T	0.18257	0.0438	N	0.01352	-0.895	0.34368	D	0.691677	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.08055	0.0;0.001;0.003	T	0.07986	-1.0744	9	0.41790	T	0.15	.	7.2357	0.26067	0.1386:0.7228:0.0:0.1386	.	288;431;107	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	T	431	.	ENSP00000306726:A431T	A	-	1	0	NETO2	45674920	0.897000	0.30589	0.697000	0.30258	0.416000	0.31233	1.719000	0.38011	0.771000	0.33359	0.655000	0.94253	GCC		0.527	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		27	98	0	0	0	0.00632	0	27	98				
ABCC12	94160	broad.mit.edu	37	16	48117856	48117856	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:48117856G>T	ENST00000311303.3	-	28	4302	c.3957C>A	c.(3955-3957)ctC>ctA	p.L1319L	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1319	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L1319L(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GATCGCAGTTGAGAACTGTGT	0.512																																							uc002efc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3955-3957)CTC>CTA		ATP-binding cassette protein C12							153.0	148.0	149.0					16																	48117856		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48117856G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3957C>A	16.37:g.48117856G>T						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.L1319L	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			28	4303	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1319			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3957C>A	CCDS10730.1																																																																																				0.512	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		31	105	1	0	7.72975e-29	0.002836	1.4205e-28	31	105				
N4BP1	9683	broad.mit.edu	37	16	48576960	48576960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:48576960C>A	ENST00000262384.3	-	7	2782	c.2546G>T	c.(2545-2547)aGa>aTa	p.R849I	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	849					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.R896I(1)|p.R849I(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGCAGAAGATCTCTGAGCTGG	0.582																																							uc002efp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2545-2547)AGA>ATA		Nedd4 binding protein 1							68.0	65.0	66.0					16																	48576960		1960	4168	6128	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48576960C>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2546G>T	16.37:g.48576960C>A	ENSP00000262384:p.Arg849Ile						p.R849I	NM_153029	NP_694574	O75113	N4BP1_HUMAN			7	2783	-		all_cancers(37;0.179)|all_lung(18;0.11)	849					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.2546G>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730929	0.89390	.	.	ENSG00000102921	ENST00000262384	T	0.70631	-0.5	5.63	5.63	0.86233	.	0.056677	0.64402	D	0.000002	D	0.84142	0.5407	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84379	0.0548	10	0.56958	D	0.05	-8.3512	19.6732	0.95918	0.0:1.0:0.0:0.0	.	849	O75113	N4BP1_HUMAN	I	849	ENSP00000262384:R849I	ENSP00000262384:R849I	R	-	2	0	N4BP1	47134461	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	6.509000	0.73725	2.636000	0.89361	0.650000	0.86243	AGA		0.582	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		7	56	1	0	8.12818e-05	0.001984	9.43997e-05	7	56				
C16orf78	123970	broad.mit.edu	37	16	49407973	49407973	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:49407973G>T	ENST00000299191.3	+	1	240	c.123G>T	c.(121-123)agG>agT	p.R41S		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	41						nucleus (GO:0005634)		p.R41S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGAGCGGAGGCAGGGGAAGA	0.502																																							uc002efr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(121-123)AGG>AGT		hypothetical protein LOC123970							83.0	79.0	80.0					16																	49407973		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49407973G>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.123G>T	16.37:g.49407973G>T	ENSP00000299191:p.Arg41Ser						p.R41S	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			1	166	+			41						Missense_Mutation	SNP	ENST00000299191.3	37	c.123G>T	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996165	0.54147	.	.	ENSG00000166152	ENST00000299191	T	0.60299	0.2	3.66	0.551	0.17225	.	0.120943	0.37906	N	0.001890	T	0.43122	0.1233	L	0.34521	1.04	0.30611	N	0.759529	D	0.54964	0.969	P	0.47134	0.539	T	0.44877	-0.9299	9	.	.	.	-69.353	4.0124	0.09629	0.2245:0.1964:0.5791:0.0	.	41	Q8WTQ4	CP078_HUMAN	S	41	ENSP00000299191:R41S	.	R	+	3	2	C16orf78	47965474	0.998000	0.40836	0.984000	0.44739	0.781000	0.44180	1.062000	0.30555	0.161000	0.19458	0.561000	0.74099	AGG		0.502	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		15	82	1	0	4.14922e-12	0.004007	6.29536e-12	15	82				
ADCY7	113	broad.mit.edu	37	16	50338319	50338319	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:50338319G>C	ENST00000394697.2	+	11	1757	c.1417G>C	c.(1417-1419)Gac>Cac	p.D473H	ADCY7_ENST00000254235.3_Missense_Mutation_p.D473H|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.D473H|ADCY7_ENST00000538642.1_Missense_Mutation_p.D473H			P51828	ADCY7_HUMAN	adenylate cyclase 7	473					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.D473H(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCCCAAGGGGGACGCGGCCCT	0.697																																							uc002egd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1417-1419)GAC>CAC		adenylate cyclase 7	Bromocriptine(DB01200)						30.0	30.0	30.0					16																	50338319		2196	4298	6494	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50338319G>C	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1417G>C	16.37:g.50338319G>C	ENSP00000378187:p.Asp473His					ADCY7_uc002egb.1_Missense_Mutation_p.D473H|ADCY7_uc002egc.1_Missense_Mutation_p.D473H	p.D473H	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	10	1685	+		all_cancers(37;0.0127)	473			Cytoplasmic (Potential).		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1417G>C	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775829	0.49786	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.81908	-1.04;-1.55;-1.55	4.83	3.77	0.43336	.	0.176167	0.26586	U	0.023549	T	0.73814	0.3635	L	0.27053	0.805	0.80722	D	1	B;P	0.44521	0.012;0.837	B;P	0.46718	0.013;0.525	T	0.72323	-0.4328	10	0.44086	T	0.13	.	4.8523	0.13543	0.1701:0.2306:0.5993:0.0	.	473;473	P51828;F5H4D1	ADCY7_HUMAN;.	H	473	ENSP00000445046:D473H;ENSP00000378187:D473H;ENSP00000254235:D473H	ENSP00000254235:D473H	D	+	1	0	ADCY7	48895820	1.000000	0.71417	0.990000	0.47175	0.679000	0.39708	3.538000	0.53597	2.227000	0.72691	0.491000	0.48974	GAC		0.697	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			4	29	0	0	0	0.009096	0	4	29				
SLC12A3	6559	broad.mit.edu	37	16	56936384	56936384	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:56936384G>C	ENST00000563236.1	+	24	2845	c.2820G>C	c.(2818-2820)aaG>aaC	p.K940N	SLC12A3_ENST00000262502.5_Missense_Mutation_p.K939N|SLC12A3_ENST00000566786.1_Missense_Mutation_p.K948N|SLC12A3_ENST00000438926.2_Missense_Mutation_p.K949N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	940					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.K949N(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCCTGGAAGATCTCAGATG	0.562																																							uc010ccm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2818-2820)AAG>AAC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						87.0	75.0	79.0					16																	56936384		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56936384G>C		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2820G>C	16.37:g.56936384G>C	ENSP00000456149:p.Lys940Asn					SLC12A3_uc002ekd.3_Missense_Mutation_p.K949N|SLC12A3_uc010ccn.2_Missense_Mutation_p.K948N	p.K940N	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			24	2849	+			940			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2820G>C	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654098	0.67472	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.07	5.07	0.68467	.	0.089021	0.85682	D	0.000000	T	0.67059	0.2853	L	0.51914	1.62	0.52501	D	0.999958	P;P;D	0.58268	0.507;0.902;0.982	B;P;P	0.57548	0.18;0.552;0.823	T	0.67665	-0.5612	9	0.46703	T	0.11	.	17.016	0.86419	0.0:0.0:1.0:0.0	.	948;940;949	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	948;949	.	ENSP00000262502:K949N	K	+	3	2	SLC12A3	55493885	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.292000	0.78731	2.354000	0.79902	0.650000	0.86243	AAG		0.562	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			15	44	0	0	0	0.003163	0	15	44				
COQ9	57017	broad.mit.edu	37	16	57486813	57486813	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:57486813G>T	ENST00000262507.6	+	3	412	c.343G>T	c.(343-345)Ggg>Tgg	p.G115W	COQ9_ENST00000567072.1_Missense_Mutation_p.G115W|COQ9_ENST00000567933.1_Missense_Mutation_p.G115W	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	115					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.G115W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						GCCCGCCCACGGGTGGACAGC	0.602																																							uc002elq.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(343-345)GGG>TGG		coenzyme Q9 homolog precursor							97.0	86.0	90.0					16																	57486813		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486813G>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.343G>T	16.37:g.57486813G>T	ENSP00000262507:p.Gly115Trp					COQ9_uc002elp.1_Missense_Mutation_p.G115W|COQ9_uc010vhn.1_Missense_Mutation_p.G115W|COQ9_uc010vho.1_Missense_Mutation_p.G115W|COQ9_uc010vhp.1_Missense_Mutation_p.G115W|COQ9_uc002elr.2_Missense_Mutation_p.G115W	p.G115W	NM_020312	NP_064708	O75208	COQ9_HUMAN			3	359	+			115					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.343G>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560568	0.86335	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.92317	3.295	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89808	0.3980	9	0.87932	D	0	-17.7377	17.3209	0.87235	0.0:0.0:1.0:0.0	.	115;115;115;115;115	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	W	115	.	ENSP00000262507:G115W	G	+	1	0	COQ9	56044314	1.000000	0.71417	0.947000	0.38551	0.801000	0.45260	7.974000	0.88039	2.325000	0.78763	0.650000	0.86243	GGG		0.602	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		19	69	1	0	1.01871e-10	0.008871	1.49983e-10	19	69				
GPR97	222487	broad.mit.edu	37	16	57712138	57712138	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:57712138C>A	ENST00000333493.4	+	4	563	c.402C>A	c.(400-402)ccC>ccA	p.P134P	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Silent_p.P14P	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	134					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P134P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCGACTTCCCAAGAGCCTTT	0.582																																							uc002emh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(400-402)CCC>CCA		G protein-coupled receptor 97 precursor							152.0	131.0	138.0					16																	57712138		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57712138C>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.402C>A	16.37:g.57712138C>A						GPR97_uc010cdc.2_Silent_p.P134P|GPR97_uc010vhv.1_Silent_p.P14P|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	p.P134P	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			4	505	+			134			Extracellular (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.402C>A	CCDS10786.1																																																																																				0.582	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		13	65	1	0	9.31168e-06	0.001855	1.1336e-05	13	65				
CDH11	1009	broad.mit.edu	37	16	64984694	64984694	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:64984694G>T	ENST00000268603.4	-	12	2485	c.1870C>A	c.(1870-1872)Ctc>Atc	p.L624I	CDH11_ENST00000394156.3_Missense_Mutation_p.L624I|CDH11_ENST00000566827.1_Missense_Mutation_p.L498I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	624					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L624I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATGCAGGCGAGGATGGCGATC	0.617			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1870-1872)CTC>ATC		cadherin 11, type 2 preproprotein							64.0	49.0	54.0					16																	64984694		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984694G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1870C>A	16.37:g.64984694G>T	ENSP00000268603:p.Leu624Ile	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.L624I|CDH11_uc010vin.1_Missense_Mutation_p.L498I	p.L624I	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2304	-		Ovarian(137;0.0973)	624			Helical; (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1870C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381566	0.42207	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61859	0.21;0.07	5.81	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.81614	2.55	0.47584	D	0.999466	D;D	0.59767	0.986;0.965	P;P	0.55713	0.782;0.751	T	0.75357	-0.3346	10	0.59425	D	0.04	.	12.7954	0.57556	0.1555:0.0:0.8445:0.0	.	624;624	P55287-2;P55287	.;CAD11_HUMAN	I	624;624;607	ENSP00000268603:L624I;ENSP00000377711:L624I	ENSP00000268603:L624I	L	-	1	0	CDH11	63542195	1.000000	0.71417	0.991000	0.47740	0.455000	0.32408	5.664000	0.68045	1.464000	0.47987	-0.140000	0.14226	CTC		0.617	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		5	37	1	0	5.9392e-07	0.001168	7.59035e-07	5	37				
CES2	8824	broad.mit.edu	37	16	66975441	66975441	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:66975441G>T	ENST00000317091.4	+	7	2124	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G	CES2_ENST00000417689.1_Silent_p.G380G|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	316					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.G380G(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	TGGTGGATGGGGTCTTCCTGC	0.567																																					Ovarian(70;1230 1691 37888 38351)	Ovarian(70;1230 1691 37888 38351)	uc002eqr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1138-1140)GGG>GGT		carboxylesterase 2 isoform 1							68.0	66.0	67.0					16																	66975441		2200	4300	6500	SO:0001819	synonymous_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66975441G>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1140G>T	16.37:g.66975441G>T						CES2_uc002eqq.2_Silent_p.G380G|CES2_uc002eqs.2_Silent_p.G223G	p.G380G	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	7	2140	+		Ovarian(137;0.0563)	316					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	ENST00000317091.4	37	c.1140G>T	CCDS10825.1																																																																																				0.567	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		8	52	1	0	0.000274275	0.004482	0.000311722	8	52				
NFATC3	4775	broad.mit.edu	37	16	68156594	68156594	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:68156594C>T	ENST00000346183.3	+	2	832	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	NFATC3_ENST00000535127.2_3'UTR|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000575270.1_Missense_Mutation_p.P270S|NFATC3_ENST00000349223.5_Missense_Mutation_p.P270S|NFATC3_ENST00000329524.4_Missense_Mutation_p.P270S	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	270	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P270S(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCCCACATCCCCCTGTGGGAA	0.582																																							uc002evo.1		NA																	4	Substitution - Missense(4)		lung(2)|skin(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(808-810)CCC>TCC		nuclear factor of activated T-cells,							91.0	87.0	88.0					16																	68156594		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156594C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.808C>T	16.37:g.68156594C>T	ENSP00000300659:p.Pro270Ser					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.P270S|NFATC3_uc002evm.1_Missense_Mutation_p.P270S|NFATC3_uc002evn.1_Missense_Mutation_p.P270S|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.P270S	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	1018	+		Ovarian(137;0.0563)	270			3 X SP repeats.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.808C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710679	0.68730	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.18016	2.25;2.24;2.26	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	T	0.48843	-0.8999	9	.	.	.	-8.5181	19.2667	0.93990	0.0:1.0:0.0:0.0	.	270;270;270;270	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	S	270	ENSP00000264008:P270S;ENSP00000300659:P270S;ENSP00000331324:P270S	.	P	+	1	0	NFATC3	66714095	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.772000	0.85439	2.612000	0.88384	0.563000	0.77884	CCC		0.582	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		12	69	0	0	0	0.000978	0	12	69				
ZFP90	146198	broad.mit.edu	37	16	68597462	68597462	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:68597462G>T	ENST00000570495.1	+	5	1064	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	ZFP90_ENST00000398253.2_Missense_Mutation_p.D258Y|ZFP90_ENST00000563169.2_Missense_Mutation_p.D258Y			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	258					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.D258Y(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TGAATGTACCGACTGTGGGAA	0.423																																							uc010cff.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)GAC>TAC		zinc finger protein 90							97.0	107.0	104.0					16																	68597462		2154	4274	6428	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597462G>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.772G>T	16.37:g.68597462G>T	ENSP00000460547:p.Asp258Tyr					ZFP90_uc002ewb.2_Silent_p.P63P|ZFP90_uc002ewc.2_Silent_p.P63P|ZFP90_uc002ewd.2_Missense_Mutation_p.D258Y|ZFP90_uc002ewe.2_Missense_Mutation_p.D258Y	p.D258Y	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1064	+		Ovarian(137;0.192)	258			C2H2-type 2.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.772G>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834899	0.50951	.	.	ENSG00000184939	ENST00000398253	T	0.07327	3.2	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19604	0.0471	L	0.36672	1.1	0.30862	N	0.733461	D	0.67145	0.996	P	0.61132	0.884	T	0.00423	-1.1748	9	0.72032	D	0.01	-12.4924	17.704	0.88303	0.0:0.0:1.0:0.0	.	258	Q8TF47	ZFP90_HUMAN	Y	258	ENSP00000381304:D258Y	ENSP00000381304:D258Y	D	+	1	0	ZFP90	67154963	0.455000	0.25736	1.000000	0.80357	0.969000	0.65631	1.210000	0.32370	2.850000	0.98022	0.650000	0.86243	GAC		0.423	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		26	139	1	0	3.99451e-17	0.009535	6.70103e-17	26	139				
AP1G1	164	broad.mit.edu	37	16	71779116	71779116	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:71779116C>T	ENST00000299980.4	-	19	2371	c.1930G>A	c.(1930-1932)Gcg>Acg	p.A644T	AP1G1_ENST00000569748.1_Missense_Mutation_p.A644T|AP1G1_ENST00000564155.1_Missense_Mutation_p.A69T|AP1G1_ENST00000393512.3_Missense_Mutation_p.A647T|AP1G1_ENST00000433195.2_Missense_Mutation_p.A667T|AP1G1_ENST00000423132.2_Missense_Mutation_p.A647T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	644					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.A644T(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTTGTAGGCGCAGTTGGAATA	0.408																																							uc010cgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1930-1932)GCG>ACG		adaptor-related protein complex 1, gamma 1							105.0	98.0	101.0					16																	71779116		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71779116C>T	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1930G>A	16.37:g.71779116C>T	ENSP00000299980:p.Ala644Thr					AP1G1_uc002fba.2_Missense_Mutation_p.A647T|AP1G1_uc002fbb.2_Missense_Mutation_p.A667T|AP1G1_uc002faz.2_Missense_Mutation_p.A61T	p.A644T	NM_001128	NP_001119	O43747	AP1G1_HUMAN			19	2244	-		Ovarian(137;0.125)	644					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1930G>A	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007752	0.54361	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.15834	2.4;2.4;2.41;2.39	5.34	5.34	0.76211	.	0.204986	0.51477	D	0.000088	T	0.13841	0.0335	L	0.28344	0.845	0.47737	D	0.999509	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.11155	-1.0599	10	0.12430	T	0.62	0.0271	19.0574	0.93070	0.0:1.0:0.0:0.0	.	644;667;647	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	T	644;647;647;667	ENSP00000299980:A644T;ENSP00000377148:A647T;ENSP00000409153:A647T;ENSP00000403259:A667T	ENSP00000299980:A644T	A	-	1	0	AP1G1	70336617	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.585000	0.53943	2.523000	0.85059	0.555000	0.69702	GCG		0.408	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			18	84	0	0	0	0.006122	0	18	84				
IST1	9798	broad.mit.edu	37	16	71961559	71961559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:71961559G>T	ENST00000378799.6	+	10	1300	c.944G>T	c.(943-945)aGa>aTa	p.R315I	IST1_ENST00000329908.8_Missense_Mutation_p.D314Y|IST1_ENST00000535424.1_Missense_Mutation_p.R328I|PKD1L3_ENST00000534738.1_RNA|IST1_ENST00000378798.5_Missense_Mutation_p.R284I|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000544564.1_Missense_Mutation_p.R315I|IST1_ENST00000541571.2_Missense_Mutation_p.R315I|RP11-498D10.6_ENST00000573861.1_RNA|IST1_ENST00000538850.1_Missense_Mutation_p.R167I|IST1_ENST00000606369.1_Missense_Mutation_p.R167I			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	313	Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.D314Y(1)									CTTCCTTCCAGACCTGCAGAT	0.498																																							uc002fbj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(982-984)AGA>ATA		SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;							161.0	162.0	162.0					16																	71961559		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71961559G>T	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.944G>T	16.37:g.71961559G>T	ENSP00000368076:p.Arg315Ile					KIAA0174_uc010cgh.1_Missense_Mutation_p.R328I|KIAA0174_uc002fbk.1_Missense_Mutation_p.D314Y|KIAA0174_uc002fbm.1_Missense_Mutation_p.R315I|KIAA0174_uc002fbl.1_Missense_Mutation_p.R284I|KIAA0174_uc002fbn.1_Missense_Mutation_p.R167I|KIAA0174_uc010cgi.1_Missense_Mutation_p.R86I|KIAA0174_uc010cgj.1_Missense_Mutation_p.R232I|KIAA0174_uc010vml.1_RNA	p.R328I			P53990	IST1_HUMAN			12	1266	+			313			Interaction with VTA1.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.983G>T	CCDS59272.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.29|11.29|11.29	1.594001|1.594001|1.594001	0.28445|0.28445|0.28445	.|.|.	.|.|.	ENSG00000182149|ENSG00000182149|ENSG00000182149	ENST00000329908|ENST00000541848|ENST00000535424;ENST00000378799;ENST00000538963;ENST00000538850;ENST00000378798;ENST00000456820	.|.|.	.|.|.	.|.|.	5.74|5.74|5.74	4.6|4.6|4.6	0.57074|0.57074|0.57074	.|.|.	.|.|0.277138	.|.|0.37012	.|.|N	.|.|0.002300	T|T|T	0.26412|0.26412|0.26412	0.0645|0.0645|0.0645	.|.|.	.|.|.	.|.|.	0.18873|0.18873|0.18873	N|N|N	0.999988|0.999988|0.999988	B|.|B;B;B	0.23591|.|0.28512	0.088|.|0.214;0.062;0.089	B|.|B;B;B	0.25884|.|0.23018	0.064|.|0.043;0.022;0.015	T|T|T	0.09164|0.09164|0.09164	-1.0687|-1.0687|-1.0687	7|4|8	0.72032|.|0.35671	D|.|T	0.01|.|0.21	-12.1043|-12.1043|-12.1043	8.5252|8.5252|8.5252	0.33300|0.33300|0.33300	0.1424:0.1403:0.7172:0.0|0.1424:0.1403:0.7172:0.0|0.1424:0.1403:0.7172:0.0	.|.|.	314|.|313;284;328	P53990-3|.|P53990;P53990-2;A8KAH5	.|.|IST1_HUMAN;.;.	Y|H|I	314|169|328;315;304;167;284;238	.|.|.	ENSP00000330408:D314Y|.|ENSP00000368075:R284I	D|Q|R	+|+|+	1|3|2	0|2|0	KIAA0174|KIAA0174|KIAA0174	70519060|70519060|70519060	0.085000|0.085000|0.085000	0.21516|0.21516|0.21516	0.458000|0.458000|0.458000	0.27068|0.27068|0.27068	0.657000|0.657000|0.657000	0.38888|0.38888|0.38888	1.423000|1.423000|1.423000	0.34837|0.34837|0.34837	2.712000|2.712000|2.712000	0.92718|0.92718|0.92718	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAC|CAG|AGA		0.498	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		41	206	1	0	7.62715e-32	0.007835	1.42719e-31	41	206				
CNTNAP4	85445	broad.mit.edu	37	16	76350378	76350378	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:76350378A>T	ENST00000476707.1	+	1	302	c.163A>T	c.(163-165)Agc>Tgc	p.S55C	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S51C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S27C|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S51C|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	52	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.S27C(2)|p.S51C(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAGCTCTCCAGCAGTCATGG	0.473																																							uc002feu.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(154-156)AGC>TGC		cell recognition protein CASPR4 isoform 1							103.0	81.0	88.0					16																	76350378		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76350378A>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.163A>T	16.37:g.76350378A>T	ENSP00000417628:p.Ser55Cys					CNTNAP4_uc002fev.1_5'UTR|CNTNAP4_uc010chb.1_Missense_Mutation_p.S27C|CNTNAP4_uc002fex.1_Missense_Mutation_p.S55C|CNTNAP4_uc002few.2_Missense_Mutation_p.S27C	p.S52C	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			4	539	+			52			Extracellular (Potential).|F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.154A>T		.	.	.	.	.	.	.	.	.	.	A	13.99	2.402405	0.42613	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87	4.72	4.72	0.59763	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.148789	0.31199	N	0.008062	D	0.98635	0.9543	.	.	.	0.40272	D	0.978294	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.981;0.981;0.981;0.998	D	0.99170	1.0864	9	0.42905	T	0.14	.	12.4689	0.55775	1.0:0.0:0.0:0.0	.	27;55;27;52	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	C	51;51;27;55	ENSP00000306893:S51C;ENSP00000439733:S51C;ENSP00000418741:S27C;ENSP00000417628:S55C	ENSP00000306893:S51C	S	+	1	0	CNTNAP4	74907879	1.000000	0.71417	0.620000	0.29132	0.103000	0.19146	4.451000	0.60047	2.109000	0.64355	0.533000	0.62120	AGC		0.473	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		6	34	0	0	0	0.001984	0	6	34				
CNTNAP4	85445	broad.mit.edu	37	16	76482812	76482812	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:76482812A>G	ENST00000476707.1	+	5	1039	c.900A>G	c.(898-900)gcA>gcG	p.A300A	CNTNAP4_ENST00000377504.4_Silent_p.A296A|CNTNAP4_ENST00000478060.1_Silent_p.A272A|CNTNAP4_ENST00000307431.8_Silent_p.A296A|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	297	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.A272A(2)|p.A296A(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATTTCCATGCACGGGGAGAAT	0.418																																							uc002feu.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(889-891)GCA>GCG		cell recognition protein CASPR4 isoform 1							114.0	90.0	98.0					16																	76482812		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76482812A>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.900A>G	16.37:g.76482812A>G						CNTNAP4_uc002fev.1_Silent_p.A209A|CNTNAP4_uc010chb.1_Silent_p.A272A|CNTNAP4_uc002fex.1_Silent_p.A300A|CNTNAP4_uc002few.2_Silent_p.A272A	p.A297A	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			8	1276	+			297			Extracellular (Potential).|Laminin G-like 1.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.891A>G																																																																																					0.418	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		5	31	0	0	0	0.001168	0	5	31				
CNTNAP4	85445	broad.mit.edu	37	16	76569506	76569506	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:76569506G>T	ENST00000476707.1	+	17	2968	c.2829G>T	c.(2827-2829)atG>atT	p.M943I	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.M891I|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.M867I|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.M939I|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	940	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.M939I(1)|p.M867I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGAATGGGATGACCCTGGATT	0.517																																							uc002feu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2818-2820)ATG>ATT		cell recognition protein CASPR4 isoform 1							69.0	76.0	74.0					16																	76569506		2192	4298	6490	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569506G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2829G>T	16.37:g.76569506G>T	ENSP00000417628:p.Met943Ile					CNTNAP4_uc002fev.1_Missense_Mutation_p.M804I|CNTNAP4_uc010chb.1_Missense_Mutation_p.M867I|CNTNAP4_uc002fex.1_Missense_Mutation_p.M943I	p.M940I	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			20	3205	+			940			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2820G>T		.	.	.	.	.	.	.	.	.	.	G	7.568	0.666121	0.14710	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.18	3.01	0.34805	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	1.000170	0.08070	N	0.999690	T	0.27349	0.0671	.	.	.	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.17228	-1.0376	9	0.30854	T	0.27	.	5.2962	0.15754	0.1285:0.0:0.507:0.3645	.	867;943;940	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	I	939;891;867;943	ENSP00000306893:M939I;ENSP00000439733:M891I;ENSP00000418741:M867I;ENSP00000417628:M943I	ENSP00000306893:M939I	M	+	3	0	CNTNAP4	75127007	0.045000	0.20229	0.357000	0.25798	0.980000	0.70556	-0.123000	0.10611	1.328000	0.45358	0.655000	0.94253	ATG		0.517	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		12	74	1	0	9.31168e-06	0.001855	1.1336e-05	12	74				
CLEC3A	10143	broad.mit.edu	37	16	78064691	78064691	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:78064691T>C	ENST00000575655.1	+	3	628	c.547T>C	c.(547-549)Tgt>Cgt	p.C183R	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000299642.4_Missense_Mutation_p.C192R|CLEC3A_ENST00000565808.1_3'UTR	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	183	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.C183R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGATGAGGCCTGTCGCAGCAG	0.498																																							uc002ffh.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(547-549)TGT>CGT		C-type lectin domain family 3 member A							99.0	98.0	99.0					16																	78064691		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064691T>C	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.547T>C	16.37:g.78064691T>C	ENSP00000460682:p.Cys183Arg						p.C183R	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	628	+			183			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.547T>C		.	.	.	.	.	.	.	.	.	.	T	20.4	3.977110	0.74360	.	.	ENSG00000166509	ENST00000299642	.	.	.	6.07	6.07	0.98685	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95052	0.8188	9	0.87932	D	0	-17.0068	16.3021	0.82825	0.0:0.0:0.0:1.0	.	183	O75596	CLC3A_HUMAN	R	183	.	ENSP00000299642:C183R	C	+	1	0	CLEC3A	76622192	1.000000	0.71417	0.965000	0.40720	0.622000	0.37654	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	TGT		0.498	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		11	77	0	0	0	0.001855	0	11	77				
DYNLRB2	83657	broad.mit.edu	37	16	80583453	80583453	+	Missense_Mutation	SNP	T	T	C	rs575077879		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:80583453T>C	ENST00000305904.6	+	3	272	c.152T>C	c.(151-153)aTg>aCg	p.M51T	DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.M80T|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000568035.1_Intron	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	51					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.M51T(1)		large_intestine(1)|lung(4)|prostate(1)	6						CACCTGACAATGAAAGCCAAA	0.378																																							uc002ffo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(151-153)ATG>ACG		dynein, light chain, roadblock-type 2							108.0	93.0	98.0					16																	80583453		2203	4300	6503	SO:0001583	missense	83657				microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr16:80583453T>C	AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"""Cytoplasmic dyneins"""	15467	protein-coding gene	gene with protein product	"""roadblock domain containing 2"""	607168	"""dynein, cytoplasmic, light polypeptide 2B"""	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.152T>C	16.37:g.80583453T>C	ENSP00000302936:p.Met51Thr					DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA	p.M51T	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN			5	272	+			51						Missense_Mutation	SNP	ENST00000305904.6	37	c.152T>C	CCDS10929.1	.	.	.	.	.	.	.	.	.	.	T	1.064	-0.672047	0.03403	.	.	ENSG00000168589	ENST00000305904	T	0.21932	1.98	6.01	3.6	0.41247	.	0.204971	0.50627	D	0.000116	T	0.13286	0.0322	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.08027	-1.0742	9	0.14252	T	0.57	-23.0987	11.6853	0.51483	0.0:0.0:0.2801:0.7199	.	51	Q8TF09	DLRB2_HUMAN	T	51	ENSP00000302936:M51T	ENSP00000302936:M51T	M	+	2	0	DYNLRB2	79140954	1.000000	0.71417	0.897000	0.35233	0.025000	0.11179	2.735000	0.47377	1.064000	0.40671	0.533000	0.62120	ATG		0.378	DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269043.1	NM_130897		4	44	0	0	0	0.000602	0	4	44				
C16orf46	123775	broad.mit.edu	37	16	81097426	81097426	+	Silent	SNP	G	G	A	rs183003666		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:81097426G>A	ENST00000299578.5	-	3	370	c.135C>T	c.(133-135)ctC>ctT	p.L45L	C16orf46_ENST00000378611.4_Silent_p.L45L|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_Intron	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	45						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L45L(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CACTGACATCGAGAAGACAAT	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18218	0.0		0.0	False		,,,				2504	0.0						uc002fgc.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(133-135)CTC>CTT		chromosome 16 open reading frame 46 isoform 2							201.0	184.0	189.0					16																	81097426		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81097426G>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.135C>T	16.37:g.81097426G>A						C16orf46_uc010chf.2_Silent_p.L45L|C16orf46_uc010vno.1_Intron	p.L45L	NM_152337	NP_689550	Q6P387	CP046_HUMAN			3	394	-			45					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.135C>T	CCDS10932.1																																																																																				0.358	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		21	107	0	0	0	0.002299	0	21	107				
SLC38A8	146167	broad.mit.edu	37	16	84070307	84070307	+	Splice_Site	SNP	G	G	T	rs548363281		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:84070307G>T	ENST00000299709.3	-	2	387	c.388C>A	c.(388-390)Ctg>Atg	p.L130M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	130					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.L130M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTACTTACGCTTCTCCAGC	0.622																																							uc002fhg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CTG>ATG		solute carrier family 38, member 8							60.0	53.0	55.0					16																	84070307		2200	4300	6500	SO:0001630	splice_region_variant	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84070307G>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.388+1C>A	16.37:g.84070307G>T							p.L130M	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			2	388	-			130						Missense_Mutation	SNP	ENST00000299709.3	37	c.388C>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486923	0.84854	.	.	ENSG00000166558	ENST00000299709	T	0.02863	4.13	4.54	-9.08	0.00720	.	0.281173	0.29948	N	0.010783	T	0.04543	0.0124	L	0.53249	1.67	0.43326	D	0.995357	P	0.48350	0.909	P	0.49140	0.601	T	0.12682	-1.0538	9	.	.	.	.	16.7154	0.85397	0.7532:0.0:0.2468:0.0	.	130	A6NNN8	S38A8_HUMAN	M	130	ENSP00000299709:L130M	.	L	-	1	2	SLC38A8	82627808	0.010000	0.17322	0.272000	0.24630	0.795000	0.44927	-0.614000	0.05604	-2.050000	0.00905	-0.275000	0.10095	CTG		0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442	Missense_Mutation	5	30	1	0	1.23904e-05	0.000602	1.49305e-05	5	30				
KIAA0513	9764	broad.mit.edu	37	16	85109450	85109450	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:85109450G>T	ENST00000566428.1	+	5	1135	c.504G>T	c.(502-504)gaG>gaT	p.E168D	KIAA0513_ENST00000258180.3_Splice_Site_p.E168D|KIAA0513_ENST00000538274.1_Splice_Site_p.E168D|KIAA0513_ENST00000567328.1_Splice_Site_p.E168D			O60268	K0513_HUMAN	KIAA0513	168						cytoplasm (GO:0005737)		p.E168D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTTGTTTCAGGTGTCATCAGA	0.522																																							uc002fiu.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(502-504)GAG>GAT		hypothetical protein LOC9764							215.0	144.0	168.0					16																	85109450		2198	4300	6498	SO:0001630	splice_region_variant	9764					cytoplasm		g.chr16:85109450G>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.504-1G>T	16.37:g.85109450G>T						KIAA0513_uc002fis.3_Missense_Mutation_p.E168D|KIAA0513_uc010voj.1_Missense_Mutation_p.E168D|KIAA0513_uc002fit.2_Missense_Mutation_p.E168D	p.E168D	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	5	724	+			168					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.504G>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525174	0.64747	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35789	1.29;1.29	5.01	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.78637	2.42	0.52099	D	0.999945	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.57854	-0.7739	9	.	.	.	.	9.8697	0.41166	0.1751:0.0:0.8249:0.0	.	168;168	B4DSS5;O60268	.;K0513_HUMAN	D	168	ENSP00000446439:E168D;ENSP00000258180:E168D	.	E	+	3	2	KIAA0513	83666951	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	2.389000	0.44407	1.089000	0.41292	0.561000	0.74099	GAG		0.522	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732	Missense_Mutation	11	58	1	0	1.08611e-07	0.000978	1.42471e-07	11	58				
Unknown	0	broad.mit.edu	37	16	88620361	88620361	+	IGR	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:88620361G>A								ZFPM1 (16937 upstream) : ZC3H18 (16427 downstream)														p.P90L(1)									TGCAGAGCTGGGACGGACGCC	0.652																																							uc010vox.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(268-270)CCC>CTC		RecName: Full=Putative uncharacterized protein C16orf85;							64.0	66.0	65.0					16																	88620361		2198	4300	6498	SO:0001628	intergenic_variant	0							g.chr16:88620361G>A																													16.37:g.88620361G>A							p.P90L							2	269	-									Missense_Mutation	SNP		37	c.269C>T		.	.	.	.	.	.	.	.	.	.	G	5.758	0.324339	0.10900	.	.	ENSG00000205036	ENST00000378416	.	.	.	0.351	0.351	0.16042	.	.	.	.	.	T	0.66934	0.2840	.	.	.	.	.	.	D	0.69078	0.997	D	0.68483	0.958	T	0.74210	-0.3739	5	0.87932	D	0	.	.	.	.	.	90	Q6ZSH3	CP085_HUMAN	L	90	.	ENSP00000367672:P90L	P	-	2	0	C16orf85	87147862	0.001000	0.12720	0.006000	0.13384	0.133000	0.20885	-0.081000	0.11321	0.436000	0.26393	0.089000	0.15464	CCC	0	0.652									11	48	0	0	0	0.008291	0	11	48				
PRDM7	11105	broad.mit.edu	37	16	90160912	90160912	+	5'Flank	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:90160912G>T	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCCTCCCCTCGCTCATGCCCT	0.736																																							uc002fqp.2		NA																	0					NA						c.(385-387)GCT>TCT		Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																																				SO:0001631	upstream_gene_variant	0							g.chr16:90160912G>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160912G>T	Exception_encountered					uc002fqq.2_Intron	p.A129S							2	863	+								A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000569206.1	37	c.385G>T																																																																																					0.736	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			8	24	1	0	5.4927e-09	0.004482	7.63426e-09	8	24				
PRPF8	10594	broad.mit.edu	37	17	1578503	1578503	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:1578503C>A	ENST00000572621.1	-	19	3268	c.3003G>T	c.(3001-3003)gtG>gtT	p.V1001V	PRPF8_ENST00000304992.6_Silent_p.V1001V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1001	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.V1001V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTGTGGTCCACGATGAGGC	0.512																																							uc002fte.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)	6						c.(3001-3003)GTG>GTT		U5 snRNP-specific protein							221.0	149.0	174.0					17																	1578503		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1578503C>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3003G>T	17.37:g.1578503C>A							p.V1001V	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	20	3117	-			1001					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.3003G>T	CCDS11010.1																																																																																				0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			14	38	1	0	3.27435e-08	0.00245	4.40009e-08	14	38				
ZZEF1	23140	broad.mit.edu	37	17	4008083	4008083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:4008083C>A	ENST00000381638.2	-	8	1541	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	473							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E473*(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGAGTCAGTTCTACCTCTGGG	0.438																																							uc002fxe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1417-1419)GAA>TAA		zinc finger, ZZ type with EF hand domain 1							79.0	72.0	74.0					17																	4008083		2203	4300	6503	SO:0001587	stop_gained	23140						calcium ion binding|zinc ion binding	g.chr17:4008083C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1417G>T	17.37:g.4008083C>A	ENSP00000371051:p.Glu473*					ZZEF1_uc002fxk.1_Nonsense_Mutation_p.E473*	p.E473*	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			8	1481	-			473					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	c.1417G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	38	7.132586	0.98085	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.65	4.68	0.58851	.	0.046201	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.4328	11.1696	0.48563	0.0:0.8588:0.0:0.1412	.	.	.	.	X	473	.	ENSP00000371051:E473X	E	-	1	0	ZZEF1	3954832	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.680000	0.68168	1.528000	0.49103	-0.150000	0.13652	GAA		0.438	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		9	55	1	0	0.00448238	0.004482	0.00488872	9	55				
ENO3	2027	broad.mit.edu	37	17	4856127	4856127	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:4856127G>T	ENST00000323997.6	+	3	255	c.123G>T	c.(121-123)acG>acT	p.T41T	ENO3_ENST00000518175.1_Silent_p.T41T|ENO3_ENST00000519584.1_Silent_p.T41T	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	41					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.T41T(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGGCTTCCACGGGTATCTATG	0.607																																							uc002gab.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(121-123)ACG>ACT		enolase 3							30.0	31.0	30.0					17																	4856127		2203	4300	6503	SO:0001819	synonymous_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4856127G>T	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.123G>T	17.37:g.4856127G>T						ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Silent_p.T41T|ENO3_uc010vss.1_Silent_p.T41T|ENO3_uc010vst.1_5'Flank	p.T41T	NM_053013	NP_443739	P13929	ENOB_HUMAN			3	217	+			41					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	c.123G>T	CCDS11062.1																																																																																				0.607	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			5	12	1	0	3.59834e-05	0.001168	4.24306e-05	5	12				
TP53	7157	broad.mit.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	A	rs587781525		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:7577096T>A	ENST00000269305.4	-	8	1031	c.842A>T	c.(841-843)gAc>gTc	p.D281V	TP53_ENST00000420246.2_Missense_Mutation_p.D281V|TP53_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TGTGCGCCGGTCTCTCCCAGG	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		44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	p.D281E(25)|p.D281H(19)|p.D281N(18)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(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	CM004343|CM056068	TP53	M		c.(841-843)GAC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							82.0	70.0	74.0					17																	7577096		2203	4300	6503	SO:0001583	missense	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.chr17:7577096T>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.842A>T	17.37:g.7577096T>A	ENSP00000269305:p.Asp281Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149V|TP53_uc010cng.1_Missense_Mutation_p.D149V|TP53_uc002gii.1_Missense_Mutation_p.D149V|TP53_uc010cnh.1_Missense_Mutation_p.D281V|TP53_uc010cni.1_Missense_Mutation_p.D281V|TP53_uc002gij.2_Missense_Mutation_p.D281V	p.D281V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1036	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.842A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794528	0.90453	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99872	-7.37;-7.37;-7.37;-7.37;-7.37;-7.37	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.991	D;D;D;D	0.97110	0.99;1.0;0.99;0.99	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	281;281;281;281;281;270;149	ENSP00000352610:D281V;ENSP00000269305:D281V;ENSP00000398846:D281V;ENSP00000391127:D281V;ENSP00000391478:D281V;ENSP00000425104:D149V	ENSP00000269305:D281V	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	29	0	0	0	0.008291	0	10	29				
CHD3	1107	broad.mit.edu	37	17	7796813	7796813	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:7796813C>T	ENST00000330494.7	+	5	869	c.719C>T	c.(718-720)cCc>cTc	p.P240L	CHD3_ENST00000358181.4_Missense_Mutation_p.P240L|CHD3_ENST00000380358.4_Missense_Mutation_p.P299L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	240					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P240L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCCGGACCCCCCGCCCTTCCA	0.637																																							uc002gje.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(718-720)CCC>CTC		chromodomain helicase DNA binding protein 3							20.0	21.0	21.0					17																	7796813		2198	4290	6488	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796813C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.719C>T	17.37:g.7796813C>T	ENSP00000332628:p.Pro240Leu					CHD3_uc002gjd.2_Missense_Mutation_p.P299L|CHD3_uc002gjf.2_Missense_Mutation_p.P240L|CHD3_uc002gjg.1_Missense_Mutation_p.P72L	p.P240L	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			5	869	+		Prostate(122;0.202)	240					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.719C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051937	0.55218	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.89681	-2.55;-2.49;-2.49	4.82	4.82	0.62117	.	0.000000	0.45867	D	0.000324	T	0.81460	0.4827	N	0.08118	0	0.52099	D	0.999948	B;P;P	0.34522	0.447;0.455;0.455	B;B;B	0.37451	0.25;0.127;0.18	D	0.83359	0.0001	10	0.56958	D	0.05	-14.3311	18.1079	0.89526	0.0:1.0:0.0:0.0	.	240;240;299	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	L	299;240;240	ENSP00000369716:P299L;ENSP00000350907:P240L;ENSP00000332628:P240L	ENSP00000332628:P240L	P	+	2	0	CHD3	7737538	0.995000	0.38212	0.951000	0.38953	0.961000	0.63080	5.738000	0.68613	2.509000	0.84616	0.555000	0.69702	CCC		0.637	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		15	18	0	0	0	0.00245	0	15	18				
USP43	124739	broad.mit.edu	37	17	9546502	9546502	+	5'Flank	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:9546502C>A	ENST00000285199.7	+	0	0				WDR16_ENST00000299764.5_Missense_Mutation_p.P627Q|WDR16_ENST00000352665.5_Missense_Mutation_p.P617Q|USP43_ENST00000570475.1_5'Flank|WDR16_ENST00000396219.3_Missense_Mutation_p.P549Q|RP11-55L4.2_ENST00000584676.1_RNA	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.P617Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGGAAGTACCCATATACCTCC	0.463																																							uc002gly.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1849-1851)CCA>CAA		WD40-repeat protein upregulated in HCC isoform							162.0	150.0	154.0					17																	9546502		2203	4300	6503	SO:0001631	upstream_gene_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9546502C>A	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4			17.37:g.9546502C>A	Exception_encountered					USP43_uc002gma.3_5'Flank|USP43_uc010cod.2_5'Flank|USP43_uc010vva.1_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.P549Q|WDR16_uc010coc.2_Missense_Mutation_p.P627Q	p.P617Q	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			14	1919	+			617			WD 11.		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1850C>A	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157290	0.78114	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.40476	1.03;1.5;1.48	5.88	5.88	0.94601	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.098105	0.64402	D	0.000001	T	0.68026	0.2956	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70044	-0.4980	10	0.87932	D	0	-15.1504	18.9902	0.92788	0.0:1.0:0.0:0.0	.	627;549;617	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	Q	617;549;627	ENSP00000339449:P617Q;ENSP00000379521:P549Q;ENSP00000299764:P627Q	ENSP00000299764:P627Q	P	+	2	0	WDR16	9487227	1.000000	0.71417	0.955000	0.39395	0.446000	0.32137	7.396000	0.79891	2.780000	0.95670	0.655000	0.94253	CCA		0.463	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		22	79	1	0	3.01185e-09	0.003954	4.22042e-09	22	79				
MYH4	4622	broad.mit.edu	37	17	10352302	10352302	+	Missense_Mutation	SNP	C	C	A	rs201934117		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:10352302C>A	ENST00000255381.2	-	31	4354	c.4244G>T	c.(4243-4245)tGt>tTt	p.C1415F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1415					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.C1415F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAGAGAAGCACATTTGGAATT	0.453																																							uc002gmn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4243-4245)TGT>TTT		myosin, heavy polypeptide 4, skeletal muscle							84.0	76.0	79.0					17																	10352302		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352302C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4244G>T	17.37:g.10352302C>A	ENSP00000255381:p.Cys1415Phe					uc002gml.1_Intron	p.C1415F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			31	4355	-			1415			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4244G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	c	18.45	3.626431	0.66901	.	.	ENSG00000141048	ENST00000255381	T	0.78481	-1.18	5.11	4.14	0.48551	Myosin tail (1);	0.177381	0.26931	U	0.021772	D	0.88470	0.6445	M	0.88310	2.945	0.51012	D	0.9999	P	0.48350	0.909	P	0.61275	0.886	D	0.90529	0.4494	10	0.87932	D	0	.	14.162	0.65452	0.0:0.9272:0.0:0.0728	.	1415	Q9Y623	MYH4_HUMAN	F	1415	ENSP00000255381:C1415F	ENSP00000255381:C1415F	C	-	2	0	MYH4	10293027	1.000000	0.71417	0.947000	0.38551	0.951000	0.60555	6.055000	0.71103	1.311000	0.45024	-0.226000	0.12346	TGT		0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		13	55	1	0	0.000151284	0.001855	0.000174646	13	55				
MYH2	4620	broad.mit.edu	37	17	10441144	10441144	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:10441144G>T	ENST00000245503.5	-	15	1809	c.1425C>A	c.(1423-1425)agC>agA	p.S475R	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.S475R|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S475R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	475	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S475R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGCTCCAGGCTGTTGAACT	0.368																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1423-1425)AGC>AGA		myosin heavy chain IIa							100.0	93.0	95.0					17																	10441144		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10441144G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1425C>A	17.37:g.10441144G>T	ENSP00000245503:p.Ser475Arg					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S475R|MYH2_uc010coj.2_Missense_Mutation_p.S475R	p.S475R	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			15	1553	-			475			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1425C>A	CCDS11156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.39|18.39	3.613797|3.613797	0.66672|0.66672	.|.	.|.	ENSG00000214970|ENSG00000125414	ENST00000399342|ENST00000532183;ENST00000245503;ENST00000397183	.|D;D;D	.|0.91521	.|-2.86;-2.86;-2.86	5.51|5.51	3.52|3.52	0.40303|0.40303	.|Myosin head, motor domain (3);	.|0.000000	.|0.46758	.|U	.|0.000276	D|D	0.95809|0.95809	0.8636|0.8636	M|M	0.92507|0.92507	3.315|3.315	0.42369|0.42369	D|D	0.992447|0.992447	.|D;B	.|0.71674	.|0.998;0.201	.|D;B	.|0.75484	.|0.986;0.34	D|D	0.96279|0.96279	0.9205|0.9205	6|9	0.87932|.	D|.	0|.	.|.	11.6738|11.6738	0.51417|0.51417	0.1455:0.0:0.8545:0.0|0.1455:0.0:0.8545:0.0	.|.	.|475;475	.|Q567P6;Q9UKX2	.|.;MYH2_HUMAN	S|R	72|475	.|ENSP00000433944:S475R;ENSP00000245503:S475R;ENSP00000380367:S475R	ENSP00000382280:R72S|.	R|S	+|-	3|3	2|2	AC005323.1|MYH2	10381869|10381869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	4.719000|4.719000	0.61937|0.61937	1.345000|1.345000	0.45676|0.45676	-0.137000|-0.137000	0.14449|0.14449	AGG|AGC		0.368	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		26	71	1	0	0.000117367	0.005443	0.000136001	26	71				
DNAH9	1770	broad.mit.edu	37	17	11556077	11556077	+	Splice_Site	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:11556077G>C	ENST00000262442.4	+	14	2421		c.e14-1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGGGGAACAGGCATTTGCGA	0.363																																							uc002gne.2		NA																	1	Unknown(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.e14-1		dynein, axonemal, heavy chain 9 isoform 2							88.0	88.0	88.0					17																	11556077		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11556077G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2354-1G>C	17.37:g.11556077G>C						DNAH9_uc010coo.2_Splice_Site_p.G79_splice	p.G785_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	14	2422	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.2354_splice	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135936	0.77662	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2584	0.93957	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH9	11496802	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.565000	0.90730	2.633000	0.89246	0.650000	0.86243	.		0.363	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Intron	16	60	0	0	0	0.007413	0	16	60				
DNAH9	1770	broad.mit.edu	37	17	11726227	11726227	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:11726227C>A	ENST00000262442.4	+	48	9190	c.9122C>A	c.(9121-9123)cCc>cAc	p.P3041H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3041H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3041					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P3041H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATACAACTCCCAAGTCCTTT	0.478																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(9121-9123)CCC>CAC		dynein, axonemal, heavy chain 9 isoform 2							126.0	113.0	118.0					17																	11726227		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726227C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9122C>A	17.37:g.11726227C>A	ENSP00000262442:p.Pro3041His					DNAH9_uc010coo.2_Missense_Mutation_p.P2335H	p.P3041H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	48	9190	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3041					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9122C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240039	0.79912	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.59224	0.28;0.28	4.06	4.06	0.47325	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92964	0.6391	10	0.87932	D	0	.	16.7891	0.85583	0.0:1.0:0.0:0.0	.	3041	Q9NYC9	DYH9_HUMAN	H	3041;3041;1623	ENSP00000262442:P3041H;ENSP00000414874:P3041H	ENSP00000262442:P3041H	P	+	2	0	DNAH9	11666952	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.229000	0.78088	2.238000	0.73509	0.563000	0.77884	CCC		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		30	55	1	0	5.45727e-16	0.008361	8.99807e-16	30	55				
CDRT1	374286	broad.mit.edu	37	17	15516139	15516139	+	Splice_Site	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:15516139T>G	ENST00000395906.3	-	5	999		c.e5-2		RP11-385D13.1_ENST00000455584.2_Splice_Site	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1									p.?(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATAGGACCCCTGGaaaaacaa	0.388																																							uc002gor.1		NA																	2	Unknown(2)		lung(2)	ovary(2)|skin(1)	3						c.e11-1		SubName: Full=Putative uncharacterized protein; Flags: Fragment;							65.0	71.0	69.0					17																	15516139		2203	4300	6503	SO:0001630	splice_region_variant	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15516139T>G	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1000-2A>C	17.37:g.15516139T>G						CDRT1_uc002gov.3_Splice_Site_p.G334_splice	p.G644_splice			O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2267	-								O43848|O95611	Splice_Site	SNP	ENST00000395906.3	37	c.1930_splice	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	T	5.763	0.325250	0.10900	.	.	ENSG00000251537	ENST00000455584;ENST00000261644;ENST00000395906	.	.	.	5.44	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8726	0.46891	0.0:0.0:0.1581:0.8419	.	.	.	.	.	-1	.	.	.	-	.	.	RP11-385D13.1	15456864	1.000000	0.71417	0.788000	0.31933	0.008000	0.06430	2.738000	0.47401	0.887000	0.36136	-0.501000	0.04562	.		0.388	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	Intron	25	55	0	0	0	0.00333	0	25	55				
TBC1D26	353149	broad.mit.edu	37	17	15641674	15641674	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:15641674C>A	ENST00000437605.2	+	7	610	c.360C>A	c.(358-360)atC>atA	p.I120I	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Silent_p.I120I|AC005324.6_ENST00000580194.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	120	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.I120I(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		TTGACAGAATCAAGTCCCAGA	0.502																																							uc010cov.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)ATC>ATA		TBC1 domain family, member 26							119.0	111.0	113.0					17																	15641674		1934	4134	6068	SO:0001819	synonymous_variant	353149					intracellular	Rab GTPase activator activity	g.chr17:15641674C>A		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.360C>A	17.37:g.15641674C>A						TBC1D26_uc010cou.1_Silent_p.I120I|TBC1D26_uc002gpb.3_RNA	p.I120I	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	7	610	+			120			Rab-GAP TBC.		A8K929|Q4G172	Silent	SNP	ENST00000437605.2	37	c.360C>A	CCDS42265.1																																																																																				0.502	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		21	110	1	0	5.26018e-13	0.001882	8.14138e-13	21	110				
FAM83G	644815	broad.mit.edu	37	17	18881367	18881367	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:18881367C>A	ENST00000388995.6	-	5	1835	c.1612G>T	c.(1612-1614)Ggg>Tgg	p.G538W	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G538W|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G538W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	538					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.G538W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGTCTGTCCCATTCTGGGGA	0.647																																							uc002guw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1612-1614)GGG>TGG		hypothetical protein LOC644815							42.0	46.0	45.0					17																	18881367		1914	4104	6018	SO:0001583	missense	644815							g.chr17:18881367C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1612G>T	17.37:g.18881367C>A	ENSP00000373647:p.Gly538Trp					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.G538W	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	1779	-			538					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1612G>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933698	0.34096	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12774	2.65;2.65	5.14	3.16	0.36331	.	1.274890	0.05098	N	0.486443	T	0.30759	0.0775	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.62885	0.908	T	0.05321	-1.0892	10	0.72032	D	0.01	-27.0028	4.4641	0.11680	0.141:0.4716:0.3063:0.0811	.	538	A6ND36	FA83G_HUMAN	W	538	ENSP00000373647:G538W;ENSP00000343279:G538W	ENSP00000343279:G538W	G	-	1	0	FAM83G	18822092	0.000000	0.05858	0.585000	0.28666	0.491000	0.33493	-0.102000	0.10956	0.769000	0.33313	0.655000	0.94253	GGG		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			29	53	1	0	6.38683e-12	0.008361	9.65233e-12	29	53				
NOS2	4843	broad.mit.edu	37	17	26116678	26116678	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:26116678G>A	ENST00000313735.6	-	3	380	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	49					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.L49L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCTGCTTGCTGAGGTTGTGAT	0.567																																							uc002gzu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(145-147)CTC>CTT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						202.0	161.0	175.0					17																	26116678		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26116678G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.147C>T	17.37:g.26116678G>A						NOS2_uc010crh.1_Silent_p.L49L|NOS2_uc010wab.1_Silent_p.L49L	p.L49L	NM_000625	NP_000616	P35228	NOS2_HUMAN			3	411	-			49					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.147C>T	CCDS11223.1																																																																																				0.567	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		27	78	0	0	0	0.00632	0	27	78				
SEZ6	124925	broad.mit.edu	37	17	27306826	27306826	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:27306826A>C	ENST00000317338.12	-	3	1158	c.730T>G	c.(730-732)Tgt>Ggt	p.C244G	SEZ6_ENST00000442608.3_Missense_Mutation_p.C244G|SEZ6_ENST00000360295.9_Missense_Mutation_p.C244G|SEZ6_ENST00000335960.6_Missense_Mutation_p.C244G|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	244					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.C244G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TTCCAGCTACAAGGGCCTGGG	0.557																																							uc002hdp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(730-732)TGT>GGT		seizure related 6 homolog isoform 1							31.0	34.0	33.0					17																	27306826		1996	4164	6160	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27306826A>C	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.730T>G	17.37:g.27306826A>C	ENSP00000312942:p.Cys244Gly					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.C244G|SEZ6_uc002hdq.1_Missense_Mutation_p.C119G|SEZ6_uc010crz.1_Missense_Mutation_p.C244G	p.C244G	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		3	924	-	Lung NSC(42;0.0137)		244			Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.730T>G	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992616	0.74703	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	D;D;D	0.97138	-4.26;-4.26;-4.26	5.26	5.26	0.73747	CUB (2);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.80183	2.485	0.52099	D	0.999949	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.999	D	0.99160	1.0861	10	0.87932	D	0	.	13.1216	0.59329	1.0:0.0:0.0:0.0	.	244;244;244	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	G	244;244;119;244;244	ENSP00000403784:C244G;ENSP00000353440:C244G;ENSP00000337407:C244G	ENSP00000312942:C119G	C	-	1	0	SEZ6	24330952	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.017000	0.76399	1.998000	0.58463	0.460000	0.39030	TGT		0.557	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			2	8	0	0	0	0.004672	0	2	8				
TMEM132E	124842	broad.mit.edu	37	17	32956077	32956077	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:32956077G>A	ENST00000321639.5	+	5	1250	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	308						integral component of membrane (GO:0016021)		p.E308K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTTTGAAATGGAGAACTTCAC	0.622																																							uc002hif.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(922-924)GAG>AAG		transmembrane protein 132E precursor							85.0	83.0	84.0					17																	32956077		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956077G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.922G>A	17.37:g.32956077G>A	ENSP00000316532:p.Glu308Lys						p.E308K	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1250	+			308			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.922G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	g	14.76	2.631624	0.46944	.	.	ENSG00000181291	ENST00000321639	T	0.20738	2.05	4.51	4.51	0.55191	.	0.123300	0.64402	D	0.000016	T	0.40862	0.1134	M	0.72894	2.215	0.80722	D	1	D	0.64830	0.994	P	0.61397	0.888	T	0.14254	-1.0479	10	0.19147	T	0.46	-27.2025	16.7679	0.85528	0.0:0.0:1.0:0.0	.	308	Q6IEE7	T132E_HUMAN	K	308	ENSP00000316532:E308K	ENSP00000316532:E308K	E	+	1	0	TMEM132E	29980190	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	9.346000	0.97056	2.502000	0.84385	0.447000	0.29281	GAG		0.622	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		33	121	0	0	0	0.002096	0	33	121				
CCL15	6359	broad.mit.edu	37	17	34325363	34325363	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:34325363C>T	ENST00000354059.4	-	3	753	c.201G>A	c.(199-201)atG>atA	p.M67I	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.M67I|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	67					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.M67I(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATAACTTTTCATGAGTGAAC	0.502																																							uc010wcu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)ATG>ATA		chemokine (C-C motif) ligand 15 precursor							86.0	71.0	76.0					17																	34325363		2203	4300	6503	SO:0001583	missense	6359				cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	g.chr17:34325363C>T	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.201G>A	17.37:g.34325363C>T	ENSP00000293276:p.Met67Ile					CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	p.M67I	NM_032965	NP_116741	Q16663	CCL15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	770	-		Ovarian(249;0.17)	67					B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	ENST00000354059.4	37	c.201G>A	CCDS11304.1	.	.	.	.	.	.	.	.	.	.	C	3.468	-0.108473	0.06924	.	.	ENSG00000161574	ENST00000354059	T	0.08282	3.11	4.55	-0.0431	0.13861	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.479306	0.21231	N	0.077973	T	0.02230	0.0069	N	0.01505	-0.83	0.09310	N	1	P	0.35684	0.515	B	0.37387	0.248	T	0.40289	-0.9571	10	0.15066	T	0.55	.	3.0568	0.06187	0.1719:0.4248:0.3057:0.0977	.	67	Q16663	CCL15_HUMAN	I	67	ENSP00000293276:M67I	ENSP00000293276:M67I	M	-	3	0	CCL15	31349476	0.015000	0.18098	0.000000	0.03702	0.008000	0.06430	0.999000	0.29757	-0.039000	0.13602	0.655000	0.94253	ATG		0.502	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		17	36	0	0	0	0.010504	0	17	36				
GRB7	2886	broad.mit.edu	37	17	37900375	37900375	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:37900375G>T	ENST00000309156.4	+	7	973	c.716G>T	c.(715-717)cGg>cTg	p.R239L	GRB7_ENST00000309185.3_Missense_Mutation_p.R239L|GRB7_ENST00000394209.2_Missense_Mutation_p.R239L|GRB7_ENST00000445327.2_Missense_Mutation_p.R262L|GRB7_ENST00000394211.3_Missense_Mutation_p.R239L|GRB7_ENST00000394204.1_Missense_Mutation_p.R239L	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	239	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.	Important for lipid binding and for stimulation of cell migration.			blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.R239L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCAGCTGCGGGGTTCAGGA	0.552																																							uc002hsr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(715-717)CGG>CTG		growth factor receptor-bound protein 7							148.0	146.0	147.0					17																	37900375		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37900375G>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.716G>T	17.37:g.37900375G>T	ENSP00000310771:p.Arg239Leu					GRB7_uc002hss.2_Missense_Mutation_p.R239L|GRB7_uc010cwc.2_Missense_Mutation_p.R239L|GRB7_uc002hst.2_Missense_Mutation_p.R239L	p.R239L	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	966	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		239	R->L: Abolishes phosphoinositide binding.		PH.	Important for lipid binding and for stimulation of cell migration.	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.716G>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819514	0.71028	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.107633	0.64402	D	0.000010	T	0.28167	0.0695	L	0.54323	1.7	0.80722	D	1	D;P	0.59357	0.985;0.942	P;P	0.56278	0.795;0.787	T	0.01326	-1.1384	10	0.87932	D	0	-29.5907	8.4775	0.33023	0.1661:0.0:0.8339:0.0	.	239;239	Q14451-2;Q14451	.;GRB7_HUMAN	L	239;239;239;239;262;239	ENSP00000311752:R239L;ENSP00000310771:R239L;ENSP00000377761:R239L;ENSP00000377759:R239L;ENSP00000403459:R262L;ENSP00000377754:R239L	ENSP00000310771:R239L	R	+	2	0	GRB7	35153901	1.000000	0.71417	0.994000	0.49952	0.198000	0.23893	3.646000	0.54396	2.571000	0.86741	0.561000	0.74099	CGG		0.552	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		38	210	1	0	1.07121e-22	0.006999	1.88748e-22	38	210				
RARA	5914	broad.mit.edu	37	17	38510598	38510598	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:38510598G>A	ENST00000254066.5	+	7	1307	c.852G>A	c.(850-852)atG>atA	p.M284I	RARA_ENST00000394086.3_Missense_Mutation_p.M300I|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.M284I|RARA_ENST00000394081.3_Missense_Mutation_p.M279I|RARA_ENST00000425707.3_Missense_Mutation_p.M187I	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	284	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.M284I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGGACACCATGACCTTCTCGG	0.632			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																		uc002huk.1		NA		Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(850-852)ATG>ATA		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						115.0	90.0	98.0					17																	38510598		2203	4300	6503	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38510598G>A	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.852G>A	17.37:g.38510598G>A	ENSP00000254066:p.Met284Ile					RARA_uc002hul.3_Missense_Mutation_p.M284I|RARA_uc010wfe.1_Missense_Mutation_p.M187I|RARA_uc002hun.1_Missense_Mutation_p.M279I	p.M284I	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		7	1307	+		Breast(137;0.00328)	284			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.852G>A	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507484	0.64410	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	4.93	4.93	0.64822	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	N	0.26162	0.8	0.80722	D	1	D;P;P	0.57571	0.98;0.8;0.854	P;P;P	0.55345	0.774;0.744;0.607	D	0.93388	0.6749	10	0.21014	T	0.42	.	17.0595	0.86543	0.0:0.0:1.0:0.0	.	187;279;284	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	I	284;187;284;300;279;277;171	ENSP00000254066:M284I;ENSP00000389993:M187I;ENSP00000377649:M284I;ENSP00000377648:M300I;ENSP00000377643:M279I	ENSP00000254066:M284I	M	+	3	0	RARA	35764124	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.648000	0.98483	2.541000	0.85698	0.591000	0.81541	ATG		0.632	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			6	49	0	0	0	0.001168	0	6	49				
KRTAP9-8	83901	broad.mit.edu	37	17	39394620	39394620	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:39394620A>G	ENST00000254072.6	+	1	324	c.317A>G	c.(316-318)tAc>tGc	p.Y106C		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	106	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.Y106C(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGAACCTGCTACCACCCCACG	0.627																																							uc002hwh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(316-318)TAC>TGC		keratin associated protein 9.8							113.0	132.0	125.0					17																	39394620		2109	4300	6409	SO:0001583	missense	83901					keratin filament		g.chr17:39394620A>G	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.317A>G	17.37:g.39394620A>G	ENSP00000254072:p.Tyr106Cys					KRTAP9-9_uc010wfq.1_Intron	p.Y106C	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	351	+		Breast(137;0.000496)	106			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.317A>G	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	1.421	-0.572862	0.03882	.	.	ENSG00000187272	ENST00000254072	T	0.00808	5.67	2.19	0.668	0.17912	.	.	.	.	.	T	0.01124	0.0037	N	0.11341	0.13	0.25255	N	0.989644	D	0.76494	0.999	D	0.83275	0.996	T	0.36866	-0.9730	9	0.02654	T	1	.	4.634	0.12516	0.7105:0.0:0.2895:0.0	.	106	Q9BYQ0	KRA98_HUMAN	C	106	ENSP00000254072:Y106C	ENSP00000254072:Y106C	Y	+	2	0	KRTAP9-8	36648146	0.991000	0.36638	0.788000	0.31933	0.129000	0.20672	0.760000	0.26475	0.149000	0.19098	0.329000	0.21502	TAC		0.627	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			22	119	0	0	0	0.002299	0	22	119				
JUP	3728	broad.mit.edu	37	17	39919432	39919432	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:39919432C>A	ENST00000393931.3	-	8	1418	c.1300G>T	c.(1300-1302)Ggt>Tgt	p.G434C	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.G434C|JUP_ENST00000393930.1_Missense_Mutation_p.G434C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	434					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.G434C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCTCCACACCGCTGTTCTGT	0.602																																					Colon(16;42 520 6044 17852 28530)	Colon(16;42 520 6044 17852 28530)	uc002hxq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1300-1302)GGT>TGT		junction plakoglobin							168.0	127.0	141.0					17																	39919432		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919432C>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1300G>T	17.37:g.39919432C>A	ENSP00000377508:p.Gly434Cys					JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.G434C|JUP_uc002hxs.2_Missense_Mutation_p.G434C	p.G434C	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1577	-		Breast(137;0.000162)	434			ARM 6.		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1300G>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427672	0.83667	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.65916	-0.18;-0.18;-0.18	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83985	0.0334	10	0.87932	D	0	-39.64	17.6193	0.88076	0.0:1.0:0.0:0.0	.	434	P14923	PLAK_HUMAN	C	434	ENSP00000377507:G434C;ENSP00000311113:G434C;ENSP00000377508:G434C	ENSP00000311113:G434C	G	-	1	0	JUP	37172958	1.000000	0.71417	0.953000	0.39169	0.726000	0.41606	7.546000	0.82137	2.634000	0.89283	0.491000	0.48974	GGT		0.602	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			27	50	1	0	2.44723e-14	0.004656	3.90543e-14	27	50				
NAGLU	4669	broad.mit.edu	37	17	40695601	40695601	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:40695601A>G	ENST00000225927.2	+	6	1678	c.1577A>G	c.(1576-1578)aAt>aGt	p.N526S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	526					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)	p.N526S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTACAGATGAATACCAGCATC	0.637																																							uc002hzv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1576-1578)AAT>AGT		alpha-N-acetylglucosaminidase precursor	N-Acetyl-D-glucosamine(DB00141)						24.0	22.0	23.0					17																	40695601		2196	4284	6480	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695601A>G		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1577A>G	17.37:g.40695601A>G	ENSP00000225927:p.Asn526Ser						p.N526S	NM_000263	NP_000254	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	1917	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	526						Missense_Mutation	SNP	ENST00000225927.2	37	c.1577A>G	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.306645	0.01353	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98512	-4.97	4.69	-0.196	0.13232	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.803769	0.11979	N	0.510924	D	0.89111	0.6622	N	0.03224	-0.385	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.82928	-0.0214	10	0.02654	T	1	-0.1436	0.9137	0.01300	0.5015:0.1266:0.187:0.1849	.	526	P54802	ANAG_HUMAN	S	526;202	ENSP00000225927:N526S	ENSP00000225927:N526S	N	+	2	0	NAGLU	37949127	0.042000	0.20092	0.028000	0.17463	0.636000	0.38137	0.642000	0.24735	-0.160000	0.11002	0.459000	0.35465	AAT		0.637	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		7	26	0	0	0	0.001984	0	7	26				
CD300LG	146894	broad.mit.edu	37	17	41934478	41934478	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:41934478A>T	ENST00000317310.4	+	6	880	c.839A>T	c.(838-840)cAg>cTg	p.Q280L	CD300LG_ENST00000377203.4_Missense_Mutation_p.Q246L|CD300LG_ENST00000293396.8_Missense_Mutation_p.Q195L|CD300LG_ENST00000586233.1_Missense_Mutation_p.Q195L|CD300LG_ENST00000539718.1_Missense_Mutation_p.Q280L	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	280					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q280L(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCAGCTCAACAGGCCACGGAG	0.577																																							uc002iem.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(838-840)CAG>CTG		CD300 molecule-like family member g precursor							98.0	78.0	85.0					17																	41934478		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41934478A>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.839A>T	17.37:g.41934478A>T	ENSP00000321005:p.Gln280Leu					CD300LG_uc002iel.1_Missense_Mutation_p.Q195L|CD300LG_uc010czk.2_Missense_Mutation_p.Q280L|CD300LG_uc010wil.1_Missense_Mutation_p.Q246L|CD300LG_uc010czl.2_Missense_Mutation_p.Q195L	p.Q280L	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	6	880	+		Breast(137;0.0199)	280			Cytoplasmic (Potential).		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.839A>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	A	8.365	0.834009	0.16820	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.03772	3.86;3.87;4.2;3.81	3.91	0.318	0.15867	.	0.754197	0.10924	N	0.619155	T	0.01558	0.0050	N	0.01493	-0.835	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.46062	-0.9218	10	0.35671	T	0.21	.	0.7207	0.00940	0.2031:0.1231:0.2001:0.4737	.	246;195;280;280;195	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2	.;.;.;CLM9_HUMAN;.	L	280;280;246;195	ENSP00000321005:Q280L;ENSP00000442368:Q280L;ENSP00000366408:Q246L;ENSP00000293396:Q195L	ENSP00000293396:Q195L	Q	+	2	0	CD300LG	39290004	0.002000	0.14202	0.325000	0.25375	0.004000	0.04260	-0.271000	0.08572	0.026000	0.15269	-1.321000	0.01291	CAG		0.577	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		4	42	0	0	0	0.009096	0	4	42				
SPATA32	124783	broad.mit.edu	37	17	43333282	43333282	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:43333282C>T	ENST00000331780.4	-	4	362	c.267G>A	c.(265-267)acG>acA	p.T89T	MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000543122.1_Silent_p.T68T|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	89					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.T89T(1)									AGTTGGCTTCCGTGTCCAGCT	0.567																																							uc002iis.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(265-267)ACG>ACA		hypothetical protein LOC124783							110.0	101.0	104.0					17																	43333282		2203	4300	6503	SO:0001819	synonymous_variant	124783							g.chr17:43333282C>T	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.267G>A	17.37:g.43333282C>T						LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.T68T	p.T89T	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			4	363	-			89					Q7Z4U1|Q8N6V6	Silent	SNP	ENST00000331780.4	37	c.267G>A	CCDS32669.1																																																																																				0.567	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		42	111	0	0	0	0.002522	0	42	111				
ITGB3	3690	broad.mit.edu	37	17	45376866	45376867	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:45376866_45376867CC>AA	ENST00000559488.1	+	11	1899_1900	c.1883_1884CC>AA	c.(1882-1884)cCC>cAA	p.P628Q	ITGB3_ENST00000560629.1_Missense_Mutation_p.H617N|ITGB3_ENST00000435993.2_Missense_Mutation_p.P581Q	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	628	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.P581Q(1)|p.P628Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GAGAAGTGCCCCACCTGCCCAG	0.609																																							uc002ilj.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(1)	6						c.(1882-1884)CCC>CAA		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)																																			SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45376866_45376867CC>AA		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	Exception_encountered	17.37:g.45376866_45376867delinsAA	ENSP00000452786:p.Pro628Gln					ITGB3_uc010wkr.1_RNA	p.P628Q	NM_000212	NP_000203	P05106	ITB3_HUMAN			11	1903_1904	+			628			IV.|Extracellular (Potential).|Cysteine-rich tandem repeats.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	DNP	ENST00000559488.1	37	c.1883_1884CC>AA	CCDS11511.1																																																																																				0.609	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		12	52	0	0	0	0.004672	0	12	52				
SP2	6668	broad.mit.edu	37	17	45993740	45993740	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:45993740G>C	ENST00000376741.4	+	3	440	c.303G>C	c.(301-303)ctG>ctC	p.L101L	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	101					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)	p.L101L(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGTCACAACTGAGCGCCTCCT	0.522																																							uc002imk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(301-303)CTG>CTC		Sp2 transcription factor							105.0	105.0	105.0					17																	45993740		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45993740G>C		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.303G>C	17.37:g.45993740G>C						SP2_uc002iml.2_Silent_p.L94L|uc002imm.2_Intron	p.L101L	NM_003110	NP_003101	Q02086	SP2_HUMAN			3	440	+			101					A6NK74	Silent	SNP	ENST00000376741.4	37	c.303G>C	CCDS11521.2																																																																																				0.522	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		15	124	0	0	0	0.00245	0	15	124				
COPZ2	51226	broad.mit.edu	37	17	46111234	46111234	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:46111234G>T	ENST00000006101.4	-	4	256	c.257C>A	c.(256-258)aCt>aAt	p.T86N	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	88					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)		p.T86N(1)		lung(3)|upper_aerodigestive_tract(1)	4						CTTACTCTCAGTCCGGCTGGT	0.488																																							uc002imy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(262-264)ACT>AAT		coatomer protein complex, subunit zeta 2							80.0	84.0	83.0					17																	46111234		2049	4205	6254	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46111234G>T	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.257C>A	17.37:g.46111234G>T	ENSP00000006101:p.Thr86Asn						p.T88N	NM_016429	NP_057513	Q9P299	COPZ2_HUMAN			7	276	-			88						Missense_Mutation	SNP	ENST00000006101.4	37	c.263C>A		.	.	.	.	.	.	.	.	.	.	G	12.42	1.932112	0.34096	.	.	ENSG00000005243	ENST00000006101	.	.	.	5.59	4.58	0.56647	Longin-like (1);AP complex, mu/sigma subunit (1);	0.067378	0.64402	D	0.000013	T	0.62183	0.2407	L	0.38649	1.16	0.44762	D	0.997768	B	0.22541	0.071	B	0.40702	0.338	T	0.62011	-0.6944	9	0.46703	T	0.11	-17.4882	14.8111	0.69996	0.0:0.0:0.8555:0.1445	.	88	Q9P299	COPZ2_HUMAN	N	86	.	ENSP00000006101:T86N	T	-	2	0	COPZ2	43466233	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	6.116000	0.71571	2.635000	0.89317	0.643000	0.83706	ACT		0.488	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		3	17	1	0	6.4e-05	0.004672	7.49101e-05	3	17				
COL1A1	1277	broad.mit.edu	37	17	48263689	48263689	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48263689C>T	ENST00000225964.5	-	49	4112	c.3994G>A	c.(3994-3996)Gat>Aat	p.D1332N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1332	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.D1332N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TGGAATCCATCGGTCATGCTC	0.572			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(3994-3996)GAT>AAT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						178.0	143.0	155.0					17																	48263689		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263689C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3994G>A	17.37:g.48263689C>T	ENSP00000225964:p.Asp1332Asn						p.D1332N	NM_000088	NP_000079	P02452	CO1A1_HUMAN			49	4120	-			1332			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3994G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469786	0.43839	.	.	ENSG00000108821	ENST00000225964	T	0.72835	-0.69	4.07	4.07	0.47477	Fibrillar collagen, C-terminal (3);	0.127973	0.49916	D	0.000129	T	0.51958	0.1705	N	0.16903	0.455	0.50467	D	0.999878	P	0.35612	0.512	B	0.27887	0.084	T	0.57648	-0.7775	10	0.40728	T	0.16	.	15.1789	0.72938	0.0:1.0:0.0:0.0	.	1332	P02452	CO1A1_HUMAN	N	1332	ENSP00000225964:D1332N	ENSP00000225964:D1332N	D	-	1	0	COL1A1	45618688	0.319000	0.24607	0.486000	0.27416	0.546000	0.35178	4.721000	0.61951	2.094000	0.63399	0.313000	0.20887	GAT		0.572	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			6	108	0	0	0	0.001984	0	6	108				
LRRC59	55379	broad.mit.edu	37	17	48474597	48474597	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48474597T>A	ENST00000225972.7	-	1	317	c.82A>T	c.(82-84)Aat>Tat	p.N28Y	LRRC59_ENST00000576448.1_Missense_Mutation_p.N28Y|RP1-117B12.4_ENST00000511627.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	28						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N28Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GGGACCTCATTCAGGTCGCTG	0.662											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002iqt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(82-84)AAT>TAT		leucine rich repeat containing 59							79.0	71.0	74.0					17																	48474597		2203	4300	6503	SO:0001583	missense	55379					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	g.chr17:48474597T>A	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.82A>T	17.37:g.48474597T>A	ENSP00000225972:p.Asn28Tyr		OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954		p.N28Y	NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		1	236	-	Breast(11;5.62e-19)		28			Cytoplasmic (Potential).|LRR 1.		B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	c.82A>T	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.724489	0.68959	.	.	ENSG00000108829	ENST00000225972	T	0.02421	4.3	5.72	5.72	0.89469	.	0.288296	0.43110	D	0.000610	T	0.05823	0.0152	N	0.25789	0.76	0.34897	D	0.746141	D	0.56287	0.975	P	0.51974	0.686	T	0.35351	-0.9792	10	0.66056	D	0.02	.	16.2988	0.82793	0.0:0.0:0.0:1.0	.	28	Q96AG4	LRC59_HUMAN	Y	28	ENSP00000225972:N28Y	ENSP00000225972:N28Y	N	-	1	0	LRRC59	45829596	0.997000	0.39634	1.000000	0.80357	0.726000	0.41606	3.880000	0.56145	2.311000	0.77944	0.533000	0.62120	AAT		0.662	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		8	71	0	0	0	0.004482	0	8	71				
MYCBPAP	84073	broad.mit.edu	37	17	48600956	48600956	+	Splice_Site	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48600956A>T	ENST00000323776.5	+	12	1738		c.e12-1		MYCBPAP_ENST00000436259.2_Splice_Site	NM_032133.4	NP_115509.4			MYCBP associated protein									p.?(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGTCCCTCTCAGGTGTGATTC	0.507																																							uc010wmr.1		NA																	2	Unknown(2)		lung(2)	urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.e12-2		Myc-binding protein-associated protein							80.0	83.0	82.0					17																	48600956		2203	4300	6503	SO:0001630	splice_region_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48600956A>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1577-1A>T	17.37:g.48600956A>T						MYCBPAP_uc002iqz.2_Splice_Site	p.G526_splice	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		12	1739	+	Breast(11;1.23e-18)								Splice_Site	SNP	ENST00000323776.5	37	c.1577_splice	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654164	0.29425	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0216	0.80499	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYCBPAP	45955955	1.000000	0.71417	0.989000	0.46669	0.129000	0.20672	7.146000	0.77373	2.194000	0.70268	0.533000	0.62120	.		0.507	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	Intron	27	54	0	0	0	0.00632	0	27	54				
CACNA1G	8913	broad.mit.edu	37	17	48684342	48684342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:48684342G>T	ENST00000359106.5	+	24	4504	c.4504G>T	c.(4504-4506)Gac>Tac	p.D1502Y	CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000352832.5_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1479Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1502Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1502Y	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1502					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.D1502Y(2)|p.D1479Y(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTGGGCGTGGACCAGCAGGT	0.582																																							uc002irk.1		NA																	3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(4504-4506)GAC>TAC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						103.0	98.0	100.0					17																	48684342		2134	4230	6364	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48684342G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4504G>T	17.37:g.48684342G>T	ENSP00000352011:p.Asp1502Tyr					CACNA1G_uc002irj.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002irl.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002irm.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002irn.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002iro.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002irp.1_Missense_Mutation_p.D1502Y|CACNA1G_uc002irq.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002irr.1_Missense_Mutation_p.D1502Y|CACNA1G_uc002irs.1_Missense_Mutation_p.D1502Y|CACNA1G_uc002irt.1_Missense_Mutation_p.D1502Y|CACNA1G_uc002irv.1_Missense_Mutation_p.D1502Y|CACNA1G_uc002irw.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002iru.1_Missense_Mutation_p.D1479Y|CACNA1G_uc002irx.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002iry.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002irz.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002isa.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002isb.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002isc.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002isd.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002ise.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002isf.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002isg.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002ish.1_Missense_Mutation_p.D1415Y|CACNA1G_uc002isi.1_Missense_Mutation_p.D1392Y|CACNA1G_uc002isj.2_Missense_Mutation_p.D226Y	p.D1502Y	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		24	4876	+	Breast(11;6.7e-17)		1502			Extracellular (Potential).|III.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4504G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.953275	0.92660	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97906	-4.39;-4.38;-4.33;-4.37;-4.37;-4.39;-4.51;-4.52;-4.42;-4.54;-4.35;-4.35;-4.44;-4.37;-4.32;-4.4;-4.37;-4.34;-4.4;-4.38;-4.37;-4.4;-4.37;-4.4;-4.39;-4.6	5.64	5.64	0.86602	Ion transport (1);	0.230173	0.24400	U	0.038848	D	0.99013	0.9663	M	0.89658	3.05	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.998;1.0;0.998;0.997;1.0;0.999;0.997;1.0;0.998;1.0;0.998;0.999;0.998;1.0;0.999;1.0	D	0.99774	1.1025	10	0.87932	D	0	.	19.7167	0.96124	0.0:0.0:1.0:0.0	.	532;1479;1502;1502;1502;1502;1502;1502;1502;1502;1502;1502;1479;1502;1502;1502;1502;1502;1479;1502;1479;1479;1479;1479;1502;1479	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Y	1479;1479;1479;1479;1479;1502;1502;1479;1502;1502;1502;1502;1502;1502;1479;1502;1502;1502;1502;1479;1502;1502;1502;1502;1502;317	ENSP00000353990:D1479Y;ENSP00000339302:D1479Y;ENSP00000347078:D1479Y;ENSP00000409759:D1479Y;ENSP00000425522:D1479Y;ENSP00000426261:D1502Y;ENSP00000425451:D1502Y;ENSP00000422407:D1479Y;ENSP00000426814:D1502Y;ENSP00000427238:D1502Y;ENSP00000423112:D1502Y;ENSP00000420918:D1502Y;ENSP00000426172:D1502Y;ENSP00000423045:D1502Y;ENSP00000427173:D1479Y;ENSP00000426098:D1502Y;ENSP00000425698:D1502Y;ENSP00000426232:D1502Y;ENSP00000423317:D1502Y;ENSP00000350979:D1479Y;ENSP00000352011:D1502Y;ENSP00000414388:D1502Y;ENSP00000423155:D1502Y;ENSP00000422268:D1502Y;ENSP00000421518:D1502Y;ENSP00000427697:D317Y	ENSP00000339302:D1479Y	D	+	1	0	CACNA1G	46039341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.006000	0.88564	2.667000	0.90743	0.655000	0.94253	GAC		0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		8	42	1	0	3.09899e-07	0.004482	3.99367e-07	8	42				
KIF2B	84643	broad.mit.edu	37	17	51901776	51901776	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:51901776G>C	ENST00000268919.4	+	1	1538	c.1382G>C	c.(1381-1383)aGc>aCc	p.S461T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	461	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S461T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCAAGGCCAGCCGGAAAAGG	0.488																																							uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1381-1383)AGC>ACC		kinesin family member 2B							47.0	44.0	45.0					17																	51901776		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901776G>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1382G>C	17.37:g.51901776G>C	ENSP00000268919:p.Ser461Thr					uc010wna.1_RNA	p.S461T	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1538	+			461			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1382G>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	5.579	0.291696	0.10567	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.16324	2.35	5.73	-0.642	0.11486	Kinesin, motor domain (4);	0.470777	0.17694	N	0.165176	T	0.08044	0.0201	N	0.12611	0.24	0.24357	N	0.994896	B	0.10296	0.003	B	0.15870	0.014	T	0.23332	-1.0191	10	0.56958	D	0.05	.	5.9973	0.19501	0.5546:0.2406:0.2048:0.0	.	461	Q8N4N8	KIF2B_HUMAN	T	461;349	ENSP00000268919:S461T	ENSP00000268919:S461T	S	+	2	0	KIF2B	49256775	1.000000	0.71417	0.984000	0.44739	0.035000	0.12851	3.494000	0.53273	-0.082000	0.12640	-0.793000	0.03317	AGC		0.488	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		8	38	0	0	0	0.004482	0	8	38				
OR4D2	124538	broad.mit.edu	37	17	56247902	56247902	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:56247902G>A	ENST00000545221.1	+	1	886	c.886G>A	c.(886-888)Gca>Aca	p.A296T		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A296T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	0.512																																							uc010wnp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(886-888)GCA>ACA		olfactory receptor, family 4, subfamily D,							101.0	101.0	101.0					17																	56247902		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247902G>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.886G>A	17.37:g.56247902G>A	ENSP00000441354:p.Ala296Thr						p.A296T	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	886	+			296			Cytoplasmic (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.886G>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345107	0.24426	.	.	ENSG00000255713	ENST00000545221	T	0.37411	1.2	5.65	4.58	0.56647	.	0.124396	0.36482	N	0.002563	T	0.23926	0.0579	L	0.33293	1	0.28242	N	0.925657	B	0.12013	0.005	B	0.18871	0.023	T	0.04454	-1.0950	10	0.30078	T	0.28	-12.4766	6.156	0.20338	0.092:0.0:0.6791:0.2289	.	296	P58180	OR4D2_HUMAN	T	296	ENSP00000441354:A296T	ENSP00000441354:A296T	A	+	1	0	OR4D2	53602901	0.002000	0.14202	1.000000	0.80357	0.791000	0.44710	-0.003000	0.12901	2.825000	0.97269	0.609000	0.83330	GCA		0.512	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			14	105	0	0	0	0.00245	0	14	105				
HSF5	124535	broad.mit.edu	37	17	56557394	56557394	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:56557394G>A	ENST00000323777.3	-	2	894	c.785C>T	c.(784-786)cCa>cTa	p.P262L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	262					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P262L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACCTCAGTTGGAAACCTCTG	0.463																																							uc002iwi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(784-786)CCA>CTA		heat shock transcription factor family member 5							253.0	223.0	233.0					17																	56557394		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557394G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.785C>T	17.37:g.56557394G>A	ENSP00000313243:p.Pro262Leu						p.P262L	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			2	909	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		262					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.785C>T	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217916	0.79352	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.72051	-0.62	5.5	5.5	0.81552	.	0.342720	0.27509	N	0.019048	T	0.74913	0.3779	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.74512	-0.3641	10	0.38643	T	0.18	.	16.1191	0.81329	0.0:0.0:1.0:0.0	.	262	Q4G112	HSF5_HUMAN	L	162;262	ENSP00000313243:P262L	ENSP00000313243:P262L	P	-	2	0	HSF5	53912393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.289000	0.72696	2.586000	0.87340	0.655000	0.94253	CCA		0.463	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		14	208	0	0	0	0.001855	0	14	208				
KCNH6	81033	broad.mit.edu	37	17	61623234	61623234	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:61623234C>T	ENST00000583023.1	+	14	2967	c.2956C>T	c.(2956-2958)Cct>Tct	p.P986S	KCNH6_ENST00000581784.1_Missense_Mutation_p.P897S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P897S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P950S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	986					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P986S(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGCTCAGATCCTGGATTTGC	0.547																																							uc002jay.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2956-2958)CCT>TCT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						77.0	73.0	74.0					17																	61623234		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61623234C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2956C>T	17.37:g.61623234C>T	ENSP00000463533:p.Pro986Ser					KCNH6_uc010wpl.1_Missense_Mutation_p.P827S|KCNH6_uc010wpm.1_Missense_Mutation_p.P950S|KCNH6_uc002jaz.1_Missense_Mutation_p.P897S	p.P986S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			14	3036	+			986			Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2956C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062389	0.76187	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99932	-8.2	4.57	3.57	0.40892	.	0.000000	0.64402	U	0.000015	D	0.99866	0.9937	L	0.55481	1.735	0.47065	D	0.999306	B;D;D;D	0.89917	0.307;1.0;0.993;1.0	B;D;D;D	0.85130	0.031;0.996;0.91;0.997	D	0.95093	0.8223	10	0.87932	D	0	.	13.4601	0.61223	0.0:0.9195:0.0:0.0805	.	827;950;897;986	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	S	986;897	ENSP00000396900:P897S	ENSP00000318212:P986S	P	+	1	0	KCNH6	58976966	1.000000	0.71417	0.993000	0.49108	0.805000	0.45488	4.949000	0.63596	2.228000	0.72767	0.563000	0.77884	CCT		0.547	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		9	62	0	0	0	0.004482	0	9	62				
SCN4A	6329	broad.mit.edu	37	17	62025346	62025346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:62025346G>T	ENST00000435607.1	-	17	3298	c.3222C>A	c.(3220-3222)taC>taA	p.Y1074*	SCN4A_ENST00000578147.1_Nonsense_Mutation_p.Y1074*	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1074					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Y1074*(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGAAGATGTAGGTGAAGA	0.547																																							uc002jds.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3220-3222)TAC>TAA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						99.0	103.0	102.0					17																	62025346		2178	4297	6475	SO:0001587	stop_gained	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62025346G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3222C>A	17.37:g.62025346G>T	ENSP00000396320:p.Tyr1074*						p.Y1074*	NM_000334	NP_000325	P35499	SCN4A_HUMAN			17	3299	-			1074			III.|Helical; Name=S2 of repeat III; (Potential).		Q15478|Q16447|Q7Z6B1	Nonsense_Mutation	SNP	ENST00000435607.1	37	c.3222C>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	39	7.516579	0.98332	.	.	ENSG00000007314	ENST00000435607	.	.	.	4.25	3.28	0.37604	.	0.058691	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3983	0.32570	0.1813:0.0:0.8187:0.0	.	.	.	.	X	1074	.	ENSP00000396320:Y1074X	Y	-	3	2	SCN4A	59379078	0.752000	0.28338	1.000000	0.80357	0.962000	0.63368	0.953000	0.29162	2.386000	0.81285	0.455000	0.32223	TAC		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		23	23	1	0	3.8784e-16	0.001882	6.40165e-16	23	23				
BPTF	2186	broad.mit.edu	37	17	65962715	65962715	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:65962715G>C	ENST00000321892.4	+	28	8921	c.8860G>C	c.(8860-8862)Gaa>Caa	p.E2954Q	BPTF_ENST00000306378.6_Missense_Mutation_p.E2828Q|BPTF_ENST00000335221.5_Missense_Mutation_p.E2811Q|BPTF_ENST00000424123.3_Missense_Mutation_p.E2672Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2954	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E2811Q(1)|p.E2828Q(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCTTTCCTTGAACCAGTAGA	0.373																																							uc002jgf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(8482-8484)GAA>CAA		bromodomain PHD finger transcription factor							108.0	102.0	104.0					17																	65962715		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65962715G>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8860G>C	17.37:g.65962715G>C	ENSP00000315454:p.Glu2954Gln					BPTF_uc002jge.2_Missense_Mutation_p.E2811Q|BPTF_uc002jgg.2_Missense_Mutation_p.E543Q|BPTF_uc002jgh.2_Missense_Mutation_p.E345Q	p.E2828Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		26	8543	+	all_cancers(12;6e-11)		2954			Bromo.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.8482G>C		.	.	.	.	.	.	.	.	.	.	G	20.3	3.960479	0.74016	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.29917	1.55;1.55;1.55	5.73	5.73	0.89815	.	.	.	.	.	T	0.53351	0.1791	L	0.52126	1.63	0.80722	D	1	P;P;D;D	0.89917	0.942;0.931;1.0;1.0	P;P;D;D	0.85130	0.754;0.851;0.997;0.997	T	0.51228	-0.8732	9	0.72032	D	0.01	-16.221	19.903	0.96995	0.0:0.0:1.0:0.0	.	159;632;2828;2811	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	Q	2828;2811;2954;159	ENSP00000307208:E2828Q;ENSP00000334351:E2811Q;ENSP00000315454:E2954Q	ENSP00000307208:E2828Q	E	+	1	0	BPTF	63393177	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.734000	0.98822	2.716000	0.92895	0.555000	0.69702	GAA		0.373	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	91	0	0	0	0.004482	0	7	91				
ABCA6	23460	broad.mit.edu	37	17	67103890	67103890	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:67103890G>C	ENST00000284425.2	-	18	2510	c.2336C>G	c.(2335-2337)tCa>tGa	p.S779*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	779					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S779*(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTAGAGTTGACATGGAAAT	0.353																																							uc002jhw.1		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(2335-2337)TCA>TGA		ATP-binding cassette, sub-family A, member 6							94.0	89.0	91.0					17																	67103890		2203	4300	6503	SO:0001587	stop_gained	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67103890G>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2336C>G	17.37:g.67103890G>C	ENSP00000284425:p.Ser779*					ABCA6_uc002jhx.1_Nonsense_Mutation_p.S232*	p.S779*	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			18	2511	-	Breast(10;5.65e-12)		779					Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	c.2336C>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731563	0.96856	.	.	ENSG00000154262	ENST00000284425	.	.	.	4.62	3.65	0.41850	.	0.350192	0.20906	N	0.083544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2165	0.54410	0.0891:0.0:0.9109:0.0	.	.	.	.	X	779	.	ENSP00000284425:S779X	S	-	2	0	ABCA6	64615485	1.000000	0.71417	0.374000	0.26016	0.003000	0.03518	5.819000	0.69243	2.568000	0.86640	0.591000	0.81541	TCA		0.353	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		6	72	0	0	0	0.001168	0	6	72				
KCNJ16	3773	broad.mit.edu	37	17	68128375	68128375	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:68128375C>A	ENST00000589377.1	+	2	310	c.147C>A	c.(145-147)caC>caA	p.H49Q	KCNJ16_ENST00000392670.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000585558.1_Missense_Mutation_p.H84Q|KCNJ16_ENST00000283936.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000392671.1_Missense_Mutation_p.H49Q|KCNJ16_ENST00000586462.1_Missense_Mutation_p.H88Q	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	49					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.H49Q(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTTCAAGCACATTTTTGGAG	0.423																																							uc002jin.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(145-147)CAC>CAA		potassium inwardly-rectifying channel J16							244.0	220.0	228.0					17																	68128375		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128375C>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.147C>A	17.37:g.68128375C>A	ENSP00000465967:p.His49Gln					KCNJ16_uc002jio.2_Missense_Mutation_p.H49Q|KCNJ16_uc002jip.2_Missense_Mutation_p.H49Q|KCNJ16_uc002jiq.2_Missense_Mutation_p.H81Q	p.H49Q	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	633	+	Breast(10;2.96e-09)		49			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000589377.1	37	c.147C>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163244	0.38217	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.93712	-3.27;-3.27;-3.27	6.1	2.64	0.31445	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.140555	0.64402	D	0.000006	D	0.95004	0.8383	M	0.72894	2.215	0.38849	D	0.956224	D;P	0.64830	0.994;0.509	P;B	0.61658	0.892;0.28	D	0.94574	0.7773	9	.	.	.	.	12.3528	0.55157	0.0:0.7841:0.0:0.2159	.	49;49	A8K434;Q9NPI9	.;IRK16_HUMAN	Q	49	ENSP00000283936:H49Q;ENSP00000376439:H49Q;ENSP00000376438:H49Q	.	H	+	3	2	KCNJ16	65639970	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	1.478000	0.35442	0.914000	0.36822	0.650000	0.86243	CAC		0.423	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		10	123	1	0	7.48243e-07	0.006214	9.50738e-07	10	123				
RNF213	57674	broad.mit.edu	37	17	78319272	78319272	+	Silent	SNP	G	G	T	rs577186949		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:78319272G>T	ENST00000582970.1	+	29	7280	c.7137G>T	c.(7135-7137)ctG>ctT	p.L2379L	RNF213_ENST00000336301.6_Silent_p.L452L|RNF213_ENST00000508628.2_Silent_p.L2428L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2379					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L2428L(1)|p.L452L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGCTCTGCCTGACCTTAGGGA	0.547																																							uc002jyh.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(1354-1356)CTG>CTT		ring finger protein 213							63.0	63.0	63.0					17																	78319272		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78319272G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7137G>T	17.37:g.78319272G>T							p.L452L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	1579	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.1356G>T	CCDS58606.1																																																																																				0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		13	78	1	0	9.05144e-12	0.001855	1.36525e-11	13	78				
NPTX1	4884	broad.mit.edu	37	17	78444785	78444785	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:78444785A>C	ENST00000306773.4	-	5	1284	c.1127T>G	c.(1126-1128)cTg>cGg	p.L376R	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	376	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.L376R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GAAGTGGGCCAGCTCACCCAC	0.607																																							uc002jyp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1126-1128)CTG>CGG		neuronal pentraxin I precursor							88.0	82.0	84.0					17																	78444785		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78444785A>C	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1127T>G	17.37:g.78444785A>C	ENSP00000307549:p.Leu376Arg						p.L376R	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		5	1285	-	all_neural(118;0.0538)		376			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.1127T>G	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732825	0.89482	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.64803	-0.12	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.167044	0.42420	D	0.000702	D	0.83695	0.5310	H	0.94964	3.605	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	D	0.88596	0.3146	10	0.87932	D	0	-11.8941	15.1008	0.72273	1.0:0.0:0.0:0.0	.	376	Q15818	NPTX1_HUMAN	R	376;138	ENSP00000307549:L376R	ENSP00000307549:L376R	L	-	2	0	NPTX1	76059380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.254000	0.95512	2.038000	0.60285	0.459000	0.35465	CTG		0.607	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			4	59	0	0	0	0.000602	0	4	59				
NPLOC4	55666	broad.mit.edu	37	17	79573732	79573732	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:79573732G>C	ENST00000331134.6	-	7	854	c.639C>G	c.(637-639)atC>atG	p.I213M	NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_Missense_Mutation_p.I52M|NPLOC4_ENST00000374747.5_Missense_Mutation_p.I213M	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	213					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I213M(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGTTCAGCGTGATGGCGCTCG	0.522																																							uc002kat.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(637-639)ATC>ATG		nuclear protein localization 4							62.0	63.0	62.0					17																	79573732		2053	4201	6254	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79573732G>C	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.639C>G	17.37:g.79573732G>C	ENSP00000331487:p.Ile213Met					NPLOC4_uc002kau.3_Missense_Mutation_p.I213M|NPLOC4_uc010wur.1_Missense_Mutation_p.I52M	p.I213M	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		7	821	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		213					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.639C>G	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803758	0.70682	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.31	5.31	0.75309	NPL4, zinc-binding putative (1);	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	M	0.91406	3.205	0.58432	D	0.999995	D;D;D	0.65815	0.963;0.995;0.965	D;D;D	0.67103	0.948;0.946;0.949	D	0.85860	0.1409	9	0.46703	T	0.11	-26.5409	13.9282	0.63975	0.0:0.0:0.848:0.152	.	52;213;213	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	M	213;212;52	.	ENSP00000331487:I213M	I	-	3	3	NPLOC4	77184174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.481000	0.73608	2.499000	0.84300	0.650000	0.86243	ATC		0.522	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			10	57	0	0	0	0.008291	0	10	57				
HGS	9146	broad.mit.edu	37	17	79662893	79662893	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:79662893C>T	ENST00000329138.4	+	15	1392	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	419	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.F419F(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCACCACCTTCGTGAACCGCA	0.607																																							uc002kbg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1255-1257)TTC>TTT		hepatocyte growth factor-regulated tyrosine							83.0	63.0	70.0					17																	79662893		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79662893C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1257C>T	17.37:g.79662893C>T							p.F419F	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		15	1334	+	all_neural(118;0.0878)|all_lung(278;0.23)		419			Interaction with SNX1 (By similarity).		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.1257C>T	CCDS11784.1																																																																																				0.607	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		5	46	0	0	0	0.001168	0	5	46				
ARHGAP28	79822	broad.mit.edu	37	18	6896572	6896572	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:6896572C>T	ENST00000383472.4	+	16	2081	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	ARHGAP28_ENST00000262227.3_Silent_p.L607L|ARHGAP28_ENST00000419673.2_Silent_p.L500L|ARHGAP28_ENST00000314319.3_Silent_p.L500L|ARHGAP28_ENST00000531294.1_Silent_p.L495L|ARHGAP28_ENST00000400091.2_Silent_p.L659L|ARHGAP28_ENST00000418986.1_Silent_p.L500L|ARHGAP28_ENST00000532996.1_Silent_p.L482L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	659					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L659L(1)|p.L500L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCATTCAACTCAACAATCAAA	0.443																																							uc010wzi.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1444-1446)CTC>CTT		SubName: Full=Putative uncharacterized protein ARHGAP28;							107.0	91.0	97.0					18																	6896572		2203	4300	6503	SO:0001819	synonymous_variant	79822				signal transduction	intracellular		g.chr18:6896572C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1977C>T	18.37:g.6896572C>T						ARHGAP28_uc002knc.2_Silent_p.L607L|ARHGAP28_uc002knd.2_Silent_p.L500L|ARHGAP28_uc002kne.2_Silent_p.L500L|ARHGAP28_uc002knf.2_Silent_p.L491L	p.L482L			B4DXL2	B4DXL2_HUMAN			15	1684	+		Colorectal(10;0.168)	482					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37	c.1446C>T																																																																																					0.443	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		11	68	0	0	0	0.008291	0	11	68				
MC2R	4158	broad.mit.edu	37	18	13885213	13885213	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:13885213G>A	ENST00000327606.3	-	2	485	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	102					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.A102V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GATGTCATCGGCTGTGGTTTC	0.488																																					Colon(141;1584 1782 35999 48227 48692)	Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(304-306)GCC>GTC		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						119.0	90.0	100.0					18																	13885213		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885213G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.305C>T	18.37:g.13885213G>A	ENSP00000333821:p.Ala102Val						p.A102V	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	482	-			102			Extracellular (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.305C>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177425	0.21787	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.37411	1.2;1.2	4.71	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.767116	0.12429	N	0.469684	T	0.19886	0.0478	N	0.11698	0.16	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.05649	-1.0872	10	0.59425	D	0.04	.	4.6993	0.12820	0.3228:0.0:0.6772:0.0	.	102	Q01718	ACTHR_HUMAN	V	102	ENSP00000333821:A102V;ENSP00000382718:A102V	ENSP00000333821:A102V	A	-	2	0	MC2R	13875213	0.902000	0.30710	0.005000	0.12908	0.235000	0.25334	4.430000	0.59907	2.313000	0.78055	0.650000	0.86243	GCC		0.488	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			14	57	0	0	0	0.003163	0	14	57				
CABYR	26256	broad.mit.edu	37	18	21735704	21735704	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:21735704T>A	ENST00000399496.3	+	4	404	c.239T>A	c.(238-240)tTa>tAa	p.L80*	CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000399499.1_Nonsense_Mutation_p.L80*|CABYR_ENST00000581397.1_Nonsense_Mutation_p.L80*|CABYR_ENST00000415309.2_Nonsense_Mutation_p.L80*	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	80					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)	p.L80*(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CAGAAGAAATTAGAATGTTTA	0.348																																							uc002kux.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(238-240)TTA>TAA		calcium-binding tyrosine							68.0	68.0	68.0					18																	21735704		2203	4300	6503	SO:0001587	stop_gained	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21735704T>A	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.239T>A	18.37:g.21735704T>A	ENSP00000382419:p.Leu80*					CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.2_Nonsense_Mutation_p.L80*|CABYR_uc002kuz.2_Nonsense_Mutation_p.L80*|CABYR_uc002kva.2_Nonsense_Mutation_p.L62*|CABYR_uc002kvb.2_5'UTR|CABYR_uc002kvc.2_Nonsense_Mutation_p.L80*|CABYR_uc010dlw.2_RNA	p.L80*	NM_012189	NP_036321	O75952	CABYR_HUMAN			4	391	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		80					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Nonsense_Mutation	SNP	ENST00000399496.3	37	c.239T>A	CCDS42420.1	.	.	.	.	.	.	.	.	.	.	T	7.236	0.600303	0.13939	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399499	.	.	.	5.8	-0.718	0.11205	.	1.271090	0.05365	N	0.534456	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	2.3593	4.0834	0.09937	0.2501:0.4605:0.0:0.2894	.	.	.	.	X	80	.	ENSP00000382419:L80X	L	+	2	0	CABYR	19989702	0.001000	0.12720	0.109000	0.21407	0.000000	0.00434	-0.205000	0.09411	-0.135000	0.11495	-1.082000	0.02213	TTA		0.348	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		21	69	0	0	0	0.001882	0	21	69				
ZNF521	25925	broad.mit.edu	37	18	22806254	22806254	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:22806254C>A	ENST00000361524.3	-	4	1776	c.1628G>T	c.(1627-1629)cGa>cTa	p.R543L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.R323L|ZNF521_ENST00000538137.2_Missense_Mutation_p.R543L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	543					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.R543L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGACCCAAATCGGGAGCCACT	0.433			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1627-1629)CGA>CTA		zinc finger protein 521							78.0	85.0	82.0					18																	22806254		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806254C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1628G>T	18.37:g.22806254C>A	ENSP00000354794:p.Arg543Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.R543L|ZNF521_uc002kvl.2_Missense_Mutation_p.R323L	p.R543L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1875	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		543					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1628G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234613	0.22626	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09817	2.96;2.94	5.87	5.87	0.94306	.	0.061094	0.64402	D	0.000002	T	0.09335	0.0230	N	0.14661	0.345	0.43156	D	0.994936	D	0.56968	0.978	P	0.46479	0.518	T	0.23404	-1.0189	10	0.34782	T	0.22	-17.2443	13.4213	0.60998	0.0:0.9287:0.0:0.0713	.	543	Q96K83	ZN521_HUMAN	L	543;577;543	ENSP00000354794:R543L;ENSP00000382352:R543L	ENSP00000354794:R543L	R	-	2	0	ZNF521	21060252	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.487000	0.81328	2.778000	0.95560	0.650000	0.86243	CGA		0.433	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	87	1	0	2.31682e-05	0.003163	2.7594e-05	14	87				
ZNF521	25925	broad.mit.edu	37	18	22807073	22807073	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:22807073G>T	ENST00000361524.3	-	4	957	c.809C>A	c.(808-810)cCc>cAc	p.P270H	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.P50H|ZNF521_ENST00000538137.2_Missense_Mutation_p.P270H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	270					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.P270H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAGCATTCGGGGTGGCACTC	0.552			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(808-810)CCC>CAC		zinc finger protein 521							118.0	105.0	110.0					18																	22807073		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807073G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.809C>A	18.37:g.22807073G>T	ENSP00000354794:p.Pro270His					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.P270H|ZNF521_uc002kvl.2_Missense_Mutation_p.P50H	p.P270H	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1056	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		270					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.809C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555941	0.27827	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10668	2.85;2.87	6.02	6.02	0.97574	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.29908	0.895	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	T	0.00472	-1.1719	10	0.72032	D	0.01	-28.9615	20.5407	0.99260	0.0:0.0:1.0:0.0	.	270	Q96K83	ZN521_HUMAN	H	270;304;270	ENSP00000354794:P270H;ENSP00000382352:P270H	ENSP00000354794:P270H	P	-	2	0	ZNF521	21061071	1.000000	0.71417	0.980000	0.43619	0.852000	0.48524	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	CCC		0.552	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		10	102	1	0	5.16669e-11	0.000978	7.65803e-11	10	102				
ZNF521	25925	broad.mit.edu	37	18	22807426	22807426	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:22807426A>C	ENST00000361524.3	-	4	604	c.456T>G	c.(454-456)agT>agG	p.S152R	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.S152R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	152					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S152R(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGAACAGCCTACTGCAGTAGG	0.498			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(454-456)AGT>AGG		zinc finger protein 521							134.0	122.0	126.0					18																	22807426		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807426A>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.456T>G	18.37:g.22807426A>C	ENSP00000354794:p.Ser152Arg					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S152R|ZNF521_uc002kvl.2_5'UTR	p.S152R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	703	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		152			C2H2-type 3.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.456T>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	7.677	0.688111	0.14973	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.29142	1.58;3.26;1.58	5.93	-4.93	0.03066	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.38953	1.18	0.23700	N	0.99707	D	0.76494	0.999	D	0.79784	0.993	T	0.48340	-0.9044	10	0.66056	D	0.02	-22.4167	16.8729	0.86044	0.4225:0.0:0.5775:0.0	.	152	Q96K83	ZN521_HUMAN	R	152;186;152	ENSP00000354794:S152R;ENSP00000440768:S186R;ENSP00000382352:S152R	ENSP00000354794:S152R	S	-	3	2	ZNF521	21061424	0.872000	0.30054	0.241000	0.24154	0.999000	0.98932	0.260000	0.18424	-0.678000	0.05224	0.533000	0.62120	AGT		0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		30	115	0	0	0	0.009535	0	30	115				
DSG1	1828	broad.mit.edu	37	18	28914145	28914145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:28914145G>T	ENST00000257192.4	+	8	1197	c.985G>T	c.(985-987)Gga>Tga	p.G329*		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.G329*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACAAATGTGGGAATTTTAAA	0.279																																							uc002kwp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(985-987)GGA>TGA		desmoglein 1 preproprotein							53.0	62.0	59.0					18																	28914145		2200	4289	6489	SO:0001587	stop_gained	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28914145G>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.985G>T	18.37:g.28914145G>T	ENSP00000257192:p.Gly329*						p.G329*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		8	1197	+			329			Extracellular (Potential).|Cadherin 3.		B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	c.985G>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	40	7.979039	0.98594	.	.	ENSG00000134760	ENST00000257192	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7571	0.96298	0.0:0.0:1.0:0.0	.	.	.	.	X	329	.	ENSP00000257192:G329X	G	+	1	0	DSG1	27168143	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.125000	0.89590	2.668000	0.90789	0.563000	0.77884	GGA		0.279	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		14	81	1	0	1.41608e-15	0.001855	2.31503e-15	14	81				
CCDC178	374864	broad.mit.edu	37	18	30992007	30992007	+	Missense_Mutation	SNP	G	G	T	rs548517073		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:30992007G>T	ENST00000383096.3	-	3	228	c.46C>A	c.(46-48)Caa>Aaa	p.Q16K	CCDC178_ENST00000300227.8_Missense_Mutation_p.Q16K|CCDC178_ENST00000403303.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000579916.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000583930.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q16K|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q16K|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q16K			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	16								p.Q16K(2)									ATATTGGTTTGATCATCTCTA	0.279													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15191	0.0		0.0	False		,,,				2504	0.0						uc002kxn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(46-48)CAA>AAA		hypothetical protein LOC374864 isoform 1							42.0	44.0	43.0					18																	30992007		2201	4293	6494	SO:0001583	missense	374864							g.chr18:30992007G>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.46C>A	18.37:g.30992007G>T	ENSP00000372576:p.Gln16Lys					C18orf34_uc010xbr.1_Missense_Mutation_p.Q16K|C18orf34_uc010dmf.1_Missense_Mutation_p.Q16K|C18orf34_uc002kxo.2_Missense_Mutation_p.Q16K|C18orf34_uc002kxp.2_Missense_Mutation_p.Q16K	p.Q16K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			2	188	-			16					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.46C>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	3.666	-0.068443	0.07228	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.43688	2.52;2.52;2.52;2.51;2.52;0.94	3.45	-0.0936	0.13648	.	.	.	.	.	T	0.24547	0.0595	L	0.36672	1.1	0.09310	N	1	P;B;P;P;P	0.42518	0.782;0.206;0.782;0.642;0.782	B;B;B;B;B	0.35353	0.201;0.058;0.201;0.201;0.201	T	0.13872	-1.0493	9	0.20519	T	0.43	-3.8423	5.9673	0.19332	0.0:0.3459:0.3478:0.3063	.	16;16;16;16;16	F8W7A7;A1L4G8;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	K	16	ENSP00000385591:Q16K;ENSP00000372576:Q16K;ENSP00000300227:Q16K;ENSP00000385867:Q16K;ENSP00000385234:Q16K;ENSP00000382130:Q16K	ENSP00000300227:Q16K	Q	-	1	0	C18orf34	29246005	0.012000	0.17670	0.000000	0.03702	0.020000	0.10135	0.635000	0.24629	-0.037000	0.13646	0.655000	0.94253	CAA		0.279	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		9	38	1	0	0.000151284	0.001855	0.000174646	9	38				
DTNA	1837	broad.mit.edu	37	18	32459649	32459649	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:32459649A>T	ENST00000399113.3	+	19	2047	c.2047A>T	c.(2047-2049)Agt>Tgt	p.S683C	DTNA_ENST00000283365.9_Missense_Mutation_p.S626C|DTNA_ENST00000444659.1_Missense_Mutation_p.S683C|DTNA_ENST00000598142.1_Missense_Mutation_p.S626C|DTNA_ENST00000399097.3_Missense_Mutation_p.S331C|DTNA_ENST00000601125.1_Missense_Mutation_p.S305C|DTNA_ENST00000556414.3_Missense_Mutation_p.S335C|DTNA_ENST00000598334.1_Missense_Mutation_p.S623C|DTNA_ENST00000269192.7_Missense_Mutation_p.S392C|DTNA_ENST00000269190.7_Missense_Mutation_p.S684C|DTNA_ENST00000591182.1_Missense_Mutation_p.S331C|DTNA_ENST00000399121.5_Missense_Mutation_p.S630C|DTNA_ENST00000590831.2_Missense_Mutation_p.S109C|DTNA_ENST00000595022.1_Missense_Mutation_p.S623C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	683					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S331C(1)|p.S683C(1)|p.S684C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTACATTCACAGTGGAGCTAC	0.453																																							uc010dmn.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(2047-2049)AGT>TGT		dystrobrevin alpha isoform 1							77.0	70.0	72.0					18																	32459649		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32459649A>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2047A>T	18.37:g.32459649A>T	ENSP00000382064:p.Ser683Cys					DTNA_uc002kxw.2_Missense_Mutation_p.S626C|DTNA_uc010dmj.2_Missense_Mutation_p.S623C|DTNA_uc002kxz.2_Missense_Mutation_p.S630C|DTNA_uc002kxy.2_Missense_Mutation_p.S623C|DTNA_uc010xby.1_Missense_Mutation_p.S373C|DTNA_uc010xbz.1_Missense_Mutation_p.S392C|DTNA_uc010xca.1_Missense_Mutation_p.S335C|DTNA_uc002kye.2_Missense_Mutation_p.S331C	p.S683C	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			19	2048	+			683					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.2047A>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729481	0.48833	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.19105	2.18;2.17;2.17;2.17	4.79	-3.78	0.04333	.	0.478583	0.23096	N	0.051963	T	0.18923	0.0454	N	0.19112	0.55	0.24793	N	0.992743	D;P;P;P;P;D;B;B;B	0.61080	0.975;0.956;0.864;0.926;0.681;0.989;0.296;0.296;0.42	P;P;B;P;B;P;B;B;B	0.55345	0.774;0.774;0.229;0.599;0.281;0.774;0.146;0.146;0.281	T	0.19128	-1.0315	10	0.59425	D	0.04	-0.0455	11.3463	0.49563	0.4288:0.0:0.5712:0.0	.	335;392;373;683;626;331;630;634;626	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	C	626;626;630;684;331;683;683;683;392;331;335	ENSP00000283365:S626C;ENSP00000269190:S684C;ENSP00000405819:S683C;ENSP00000382064:S683C	ENSP00000269190:S684C	S	+	1	0	DTNA	30713647	0.000000	0.05858	0.044000	0.18714	0.481000	0.33189	-0.845000	0.04340	-0.889000	0.03950	-0.263000	0.10527	AGT		0.453	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		11	53	0	0	0	0.000978	0	11	53				
MAPRE2	10982	broad.mit.edu	37	18	32682021	32682021	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:32682021G>T	ENST00000300249.5	+	4	688	c.508G>T	c.(508-510)Gta>Tta	p.V170L	MAPRE2_ENST00000413393.1_Missense_Mutation_p.V127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.V117L|MAPRE2_ENST00000436190.2_Missense_Mutation_p.V158L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.V170L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.V127L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	170					cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)		p.V170L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GTATGATCCTGTAGAGGCACG	0.463																																							uc002kyg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)GTA>TTA		microtubule-associated protein, RP/EB family,							125.0	106.0	112.0					18																	32682021		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32682021G>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.508G>T	18.37:g.32682021G>T	ENSP00000300249:p.Val170Leu					MAPRE2_uc010xcb.1_Missense_Mutation_p.V127L|MAPRE2_uc010xcc.1_Missense_Mutation_p.V158L|MAPRE2_uc002kyf.2_Missense_Mutation_p.V170L|MAPRE2_uc002kyh.2_Missense_Mutation_p.V117L|MAPRE2_uc010xcd.1_Missense_Mutation_p.V127L	p.V170L	NM_014268	NP_055083	Q15555	MARE2_HUMAN			4	688	+			170					B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.508G>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687187	0.29962	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.38	5.38	0.77491	Calponin homology domain (2);	0.061416	0.64402	D	0.000004	T	0.36744	0.0978	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.15473	0.0;0.013;0.001;0.0	B;B;B;B	0.21151	0.006;0.033;0.001;0.003	T	0.12915	-1.0529	10	0.18276	T	0.48	-15.3349	19.1073	0.93301	0.0:0.0:1.0:0.0	.	158;117;170;170	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	L	127;158;170;117	ENSP00000396074:V127L;ENSP00000407723:V158L;ENSP00000300249:V170L;ENSP00000446343:V117L	ENSP00000300249:V170L	V	+	1	0	MAPRE2	30936019	1.000000	0.71417	0.729000	0.30791	0.963000	0.63663	4.874000	0.63064	2.518000	0.84900	0.561000	0.74099	GTA		0.463	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		14	74	1	0	1.3612e-06	0.003163	1.72248e-06	14	74				
KIAA1328	57536	broad.mit.edu	37	18	34539372	34539372	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:34539372G>A	ENST00000280020.5	+	6	572	c.550G>A	c.(550-552)Ggt>Agt	p.G184S	KIAA1328_ENST00000435985.2_De_novo_Start_OutOfFrame|KIAA1328_ENST00000591619.1_Missense_Mutation_p.G180S|KIAA1328_ENST00000586135.1_Intron|KIAA1328_ENST00000543923.1_Missense_Mutation_p.G76S	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	184								p.G184S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CTCAGAACTTGGTGCTGCTAG	0.388																																							uc002kzz.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(550-552)GGT>AGT		hypothetical protein LOC57536							89.0	85.0	86.0					18																	34539372		1851	4106	5957	SO:0001583	missense	57536							g.chr18:34539372G>A	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.550G>A	18.37:g.34539372G>A	ENSP00000280020:p.Gly184Ser					KIAA1328_uc002lab.2_Intron|KIAA1328_uc002lac.1_Missense_Mutation_p.G7S|KIAA1328_uc010dnc.1_RNA	p.G184S	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	6	572	+			184					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.550G>A	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469743	0.12461	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055	T;T	0.37915	1.17;1.17	5.57	3.76	0.43208	.	0.333086	0.33401	N	0.004958	T	0.22742	0.0549	L	0.27053	0.805	0.80722	D	1	P;B	0.41524	0.753;0.323	B;B	0.41174	0.349;0.116	T	0.02958	-1.1089	10	0.11485	T	0.65	.	8.4947	0.33121	0.2368:0.0:0.7632:0.0	.	184;184	A8K8C3;Q86T90	.;K1328_HUMAN	S	76;184;184	ENSP00000441359:G76S;ENSP00000280020:G184S	ENSP00000280020:G184S	G	+	1	0	KIAA1328	32793370	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	1.068000	0.30629	1.504000	0.48704	0.650000	0.86243	GGT		0.388	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		8	16	0	0	0	0.004482	0	8	16				
SYT4	6860	broad.mit.edu	37	18	40853935	40853935	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:40853935C>T	ENST00000255224.3	-	2	827	c.459G>A	c.(457-459)aaG>aaA	p.K153K	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.K135K	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	153	Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.K153K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GAGTTCCCAGCTTCTCTTGTT	0.453																																					NSCLC(85;81 1419 2855 22820 35912)	NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(5)	5						c.(457-459)AAG>AAA		synaptotagmin IV							46.0	46.0	46.0					18																	40853935		2203	4299	6502	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853935C>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.459G>A	18.37:g.40853935C>T						SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.K135K|SYT4_uc010dnh.2_Intron	p.K153K	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	828	-			153			Phospholipid binding (Probable).|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.459G>A	CCDS11922.1																																																																																				0.453	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		6	49	0	0	0	0.001168	0	6	49				
EPG5	57724	broad.mit.edu	37	18	43493755	43493755	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:43493755G>C	ENST00000282041.5	-	21	3766	c.3732C>G	c.(3730-3732)atC>atG	p.I1244M	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1244					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.I1244M(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTCTTCAAAGATGGATTCCA	0.493																																							uc002lbm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3730-3732)ATC>ATG		hypothetical protein LOC57724							83.0	84.0	84.0					18																	43493755		1910	4113	6023	SO:0001583	missense	57724				autophagy			g.chr18:43493755G>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3732C>G	18.37:g.43493755G>C	ENSP00000282041:p.Ile1244Met					KIAA1632_uc002lbo.1_Missense_Mutation_p.I1244M|KIAA1632_uc010xcq.1_Translation_Start_Site|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.I119M	p.I1244M	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			21	3832	-			1244					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3732C>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267588	0.40095	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10288	2.89	5.34	5.34	0.76211	.	0.392800	0.28595	N	0.014784	T	0.07234	0.0183	N	0.19112	0.55	0.40501	D	0.980646	P;P	0.38597	0.639;0.639	B;B	0.36959	0.237;0.237	T	0.36456	-0.9747	10	0.33141	T	0.24	-16.5252	9.2865	0.37760	0.0:0.1289:0.6713:0.1998	.	1244;1244	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	M	1244;119	ENSP00000282041:I1244M	ENSP00000282041:I1244M	I	-	3	3	EPG5	41747753	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.869000	0.39519	2.506000	0.84524	0.591000	0.81541	ATC		0.493	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		13	89	0	0	0	0.001855	0	13	89				
TCEB3B	51224	broad.mit.edu	37	18	44560607	44560607	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:44560607G>C	ENST00000332567.4	-	1	1381	c.1029C>G	c.(1027-1029)gaC>gaG	p.D343E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	343					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D343E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGTCTCTCGGTCGTTGGAAA	0.577																																							uc002lcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1027-1029)GAC>GAG		elongin A2							74.0	68.0	70.0					18																	44560607		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560607G>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1029C>G	18.37:g.44560607G>C	ENSP00000331302:p.Asp343Glu					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.D343E	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1382	-			343					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1029C>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885851	0.17540	.	.	ENSG00000206181	ENST00000332567	T	0.05717	3.4	1.85	0.947	0.19555	.	0.293135	0.23222	U	0.050548	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.15052	0.012	T	0.46470	-0.9189	10	0.10902	T	0.67	.	3.9996	0.09574	0.2214:0.0:0.7786:0.0	.	343	Q8IYF1	ELOA2_HUMAN	E	343	ENSP00000331302:D343E	ENSP00000331302:D343E	D	-	3	2	TCEB3B	42814605	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	1.763000	0.38461	0.353000	0.24079	0.462000	0.41574	GAC		0.577	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		19	75	0	0	0	0.007413	0	19	75				
TCEB3B	51224	broad.mit.edu	37	18	44560667	44560667	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:44560667C>T	ENST00000332567.4	-	1	1321	c.969G>A	c.(967-969)cgG>cgA	p.R323R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	323					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R323R(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCCTGGGTCCCGGCCGTCTA	0.612																																							uc002lcr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(967-969)CGG>CGA		elongin A2							81.0	80.0	80.0					18																	44560667		2202	4300	6502	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560667C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.969G>A	18.37:g.44560667C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.R323R	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1322	-			323					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.969G>A	CCDS11932.1																																																																																				0.612	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		36	103	0	0	0	0.003271	0	36	103				
DCC	1630	broad.mit.edu	37	18	50994380	50994380	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:50994380G>T	ENST00000442544.2	+	25	4352	c.3736G>T	c.(3736-3738)Gct>Tct	p.A1246S	DCC_ENST00000581580.1_Splice_Site_p.A881S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1246					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.A1246S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACAATCCTGGTGAGTCAAT	0.448																																							uc002lfe.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3736-3738)GCT>TCT		netrin receptor DCC precursor							64.0	62.0	62.0					18																	50994380		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50994380G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3736+1G>T	18.37:g.50994380G>T						DCC_uc010dpf.1_Missense_Mutation_p.A881S	p.A1246S	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	25	4323	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1246			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3736G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590393	0.28357	.	.	ENSG00000187323	ENST00000442544	T	0.49139	0.79	4.74	1.75	0.24633	Neogenin, C-terminal (1);	0.257041	0.32190	N	0.006460	T	0.19685	0.0473	N	0.14661	0.345	0.43522	D	0.995794	B	0.09022	0.002	B	0.15870	0.014	T	0.09640	-1.0665	10	0.06891	T	0.86	.	1.504	0.02483	0.1911:0.2744:0.3822:0.1523	.	1246	P43146	DCC_HUMAN	S	1246	ENSP00000389140:A1246S	ENSP00000389140:A1246S	A	+	1	0	DCC	49248378	0.932000	0.31603	1.000000	0.80357	0.728000	0.41692	1.654000	0.37334	1.120000	0.41904	0.650000	0.86243	GCT		0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Missense_Mutation	15	41	1	0	2.23348e-06	0.004007	2.78733e-06	15	41				
DYNAP	284254	broad.mit.edu	37	18	52258503	52258503	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:52258503G>T	ENST00000321600.1	+	1	114	c.68G>T	c.(67-69)gGc>gTc	p.G23V	DYNAP_ENST00000585973.1_Missense_Mutation_p.G26V	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	23					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G23V(1)									TGTGATACTGGCAGCTCAAGA	0.393																																							uc002lfq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GGC>GTC		hypothetical protein LOC284254							126.0	127.0	127.0					18																	52258503		2203	4300	6503	SO:0001583	missense	284254					integral to membrane		g.chr18:52258503G>T	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.68G>T	18.37:g.52258503G>T	ENSP00000315265:p.Gly23Val					C18orf26_uc002lfp.1_Missense_Mutation_p.G26V	p.G23V	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN		Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)	1	114	+			23						Missense_Mutation	SNP	ENST00000321600.1	37	c.68G>T	CCDS11957.1	.	.	.	.	.	.	.	.	.	.	.	9.149	1.015813	0.19355	.	.	ENSG00000178690	ENST00000321600	T	0.32515	1.45	5.06	-4.68	0.03309	.	1.637990	0.03396	N	0.202655	T	0.19725	0.0474	L	0.36672	1.1	0.09310	N	0.999999	P	0.38677	0.642	B	0.35278	0.199	T	0.22730	-1.0208	10	0.52906	T	0.07	-0.0367	2.7423	0.05257	0.2988:0.3039:0.3065:0.0908	.	23	Q8N1N2	CR026_HUMAN	V	23	ENSP00000315265:G23V	ENSP00000315265:G23V	G	+	2	0	C18orf26	50409501	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	-1.602000	0.02079	-0.620000	0.05641	0.609000	0.83330	GGC		0.393	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629		25	60	1	0	1.36565e-18	0.00278	2.32901e-18	25	60				
CDH19	28513	broad.mit.edu	37	18	64178885	64178885	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:64178885G>T	ENST00000262150.2	-	10	1788	c.1496C>A	c.(1495-1497)tCc>tAc	p.S499Y	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1778	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S499Y(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCTTCTATGGATTCATCTCT	0.333																																							uc002lkc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1495-1497)TCC>TAC		cadherin 19, type 2 preproprotein							91.0	91.0	91.0					18																	64178885		2203	4297	6500	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178885G>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1496C>A	18.37:g.64178885G>T	ENSP00000262150:p.Ser499Tyr					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.S499Y	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1634	-		Esophageal squamous(42;0.0132)	499			Cadherin 5.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1496C>A	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996894	0.35226	.	.	ENSG00000071991	ENST00000262150	T	0.60171	0.21	5.03	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.244958	0.43416	D	0.000578	T	0.67785	0.2930	M	0.67397	2.05	0.80722	D	1	P	0.45348	0.856	P	0.53861	0.736	T	0.72104	-0.4391	10	0.72032	D	0.01	.	13.3309	0.60485	0.0771:0.0:0.9229:0.0	.	499	Q9H159	CAD19_HUMAN	Y	499	ENSP00000262150:S499Y	ENSP00000262150:S499Y	S	-	2	0	CDH19	62329865	1.000000	0.71417	0.856000	0.33681	0.988000	0.76386	7.079000	0.76829	1.487000	0.48415	0.585000	0.79938	TCC		0.333	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		19	53	1	0	1.67942e-08	0.006122	2.29485e-08	19	53				
RTTN	25914	broad.mit.edu	37	18	67741202	67741202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:67741202C>A	ENST00000255674.6	-	34	4879	c.4593G>T	c.(4591-4593)agG>agT	p.R1531S	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.R1531S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1531					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.R1531S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TAGATGGAGCCCTCCAAAACT	0.408																																							uc002lkp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(4591-4593)AGG>AGT		rotatin							101.0	90.0	94.0					18																	67741202		1865	4096	5961	SO:0001583	missense	25914						binding	g.chr18:67741202C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4593G>T	18.37:g.67741202C>A	ENSP00000255674:p.Arg1531Ser					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.R619S	p.R1531S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			34	4661	-		Esophageal squamous(42;0.129)	1531					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4593G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335614	0.24253	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.70164	0.23;-0.46	5.58	0.576	0.17380	.	0.274240	0.41605	N	0.000842	T	0.58409	0.2120	M	0.66939	2.045	0.18873	N	0.999981	P	0.45176	0.852	B	0.41440	0.357	T	0.51505	-0.8697	10	0.36615	T	0.2	.	6.4219	0.21748	0.0:0.5361:0.1203:0.3436	.	1531	Q86VV8	RTTN_HUMAN	S	1531	ENSP00000255674:R1531S;ENSP00000399520:R1531S	ENSP00000255674:R1531S	R	-	3	2	RTTN	65892182	0.004000	0.15560	0.108000	0.21378	0.119000	0.20118	-0.001000	0.12947	0.096000	0.17463	0.591000	0.81541	AGG		0.408	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		23	37	1	0	1.64293e-13	0.00333	2.56865e-13	23	37				
CNDP1	84735	broad.mit.edu	37	18	72247446	72247446	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:72247446C>A	ENST00000358821.3	+	10	1476	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	CNDP1_ENST00000582365.1_Missense_Mutation_p.H373Q	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	416						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.H416Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TAGGACTACACCCGTGGATTG	0.433																																					Melanoma(32;1029 1042 25286 38395 44237)	Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1246-1248)CAC>CAA		carnosinase 1 precursor							123.0	115.0	118.0					18																	72247446		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247446C>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1248C>A	18.37:g.72247446C>A	ENSP00000351682:p.His416Gln					CNDP1_uc002lls.2_Missense_Mutation_p.H219Q	p.H416Q	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	10	1459	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	416					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1248C>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	4.438	0.081005	0.08533	.	.	ENSG00000150656	ENST00000358821	T	0.12879	2.64	5.04	-4.08	0.03963	.	0.773311	0.12728	N	0.444147	T	0.04363	0.0120	N	0.03324	-0.35	0.20074	N	0.999936	B	0.06786	0.001	B	0.04013	0.001	T	0.29305	-1.0016	10	0.51188	T	0.08	-4.3683	4.2428	0.10656	0.1319:0.2529:0.4503:0.1649	.	416	Q96KN2	CNDP1_HUMAN	Q	416	ENSP00000351682:H416Q	ENSP00000351682:H416Q	H	+	3	2	CNDP1	70398426	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.660000	0.00851	-0.872000	0.04037	0.563000	0.77884	CAC		0.433	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		9	21	1	0	7.48243e-07	0.006214	9.50738e-07	9	21				
ADNP2	22850	broad.mit.edu	37	18	77893726	77893726	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr18:77893726G>A	ENST00000262198.4	+	4	885	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	144					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.E144K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TATTTTAGGTGAAACTAAATC	0.408																																							uc002lnw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(430-432)GAA>AAA		ADNP homeobox 2							99.0	91.0	94.0					18																	77893726		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77893726G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.430G>A	18.37:g.77893726G>A	ENSP00000262198:p.Glu144Lys						p.E144K	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	885	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	144					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.430G>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144240	0.37825	.	.	ENSG00000101544	ENST00000262198	T	0.70399	-0.48	6.17	6.17	0.99709	.	0.261736	0.32687	N	0.005765	T	0.74604	0.3738	L	0.36672	1.1	0.42605	D	0.993294	D	0.60575	0.988	P	0.56216	0.794	T	0.70865	-0.4756	9	.	.	.	-26.7483	19.0599	0.93085	0.0:0.0:1.0:0.0	.	144	Q6IQ32	ADNP2_HUMAN	K	144	ENSP00000262198:E144K	.	E	+	1	0	ADNP2	75994717	0.994000	0.37717	0.138000	0.22173	0.764000	0.43329	3.936000	0.56568	2.941000	0.99782	0.655000	0.94253	GAA		0.408	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		8	69	0	0	0	0.00308	0	8	69				
PPAP2C	8612	broad.mit.edu	37	19	288086	288086	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:288086G>A	ENST00000269812.3	-	2	187	c.138C>T	c.(136-138)ccC>ccT	p.P46P	PPAP2C_ENST00000327790.3_Silent_p.P67P|PPAP2C_ENST00000434325.2_5'UTR	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	46					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)	p.P67P(1)|p.P46P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACGGTAGGGGTACCGGA	0.612																																							uc002loi.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(136-138)CCC>CCT		phosphatidic acid phosphatase type 2C isoform 1							157.0	126.0	137.0					19																	288086		2203	4300	6503	SO:0001819	synonymous_variant	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:288086G>A	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.138C>T	19.37:g.288086G>A						PPAP2C_uc002loh.2_Silent_p.P67P|PPAP2C_uc002loj.2_5'UTR	p.P46P	NM_003712	NP_003703	O43688	LPP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	237	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	46					A6NLV0|E9PAY8	Silent	SNP	ENST00000269812.3	37	c.138C>T	CCDS12023.1																																																																																				0.612	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			7	97	0	0	0	0.006214	0	7	97				
PRSS57	400668	broad.mit.edu	37	19	694911	694911	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:694911A>T	ENST00000329267.7	-	2	168	c.139T>A	c.(139-141)Tac>Aac	p.Y47N		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	47	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.Y47N(1)		central_nervous_system(1)|lung(5)	6						GATGCCATGTAGGGCCTGGAG	0.701																																							uc002lpl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)TAC>AAC		protease, serine-like 1 precursor							15.0	15.0	15.0					19																	694911		2195	4294	6489	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:694911A>T	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.139T>A	19.37:g.694911A>T	ENSP00000327386:p.Tyr47Asn					PRSSL1_uc010xfs.1_Missense_Mutation_p.Y46N	p.Y47N	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	170	-		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	47			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.139T>A	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319763	0.60524	.	.	ENSG00000185198	ENST00000329267	D	0.94417	-3.42	4.9	4.9	0.64082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.212755	0.23694	N	0.045487	D	0.97980	0.9335	H	0.95982	3.75	0.46521	D	0.999084	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98732	1.0713	10	0.87932	D	0	.	11.9339	0.52862	1.0:0.0:0.0:0.0	.	46;47	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	N	47	ENSP00000327386:Y47N	ENSP00000327386:Y47N	Y	-	1	0	PRSS57	645911	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	2.884000	0.48562	1.849000	0.53698	0.397000	0.26171	TAC		0.701	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		4	11	0	0	0	0.009096	0	4	11				
GRIN3B	116444	broad.mit.edu	37	19	1008897	1008897	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:1008897G>A	ENST00000234389.3	+	8	2692	c.2673G>A	c.(2671-2673)tcG>tcA	p.S891S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	891					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.S891S(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGAGGGGTCGAAGGAGGAGA	0.706																																							uc002lqo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2671-2673)TCG>TCA		glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						36.0	28.0	31.0					19																	1008897		2186	4296	6482	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1008897G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2673G>A	19.37:g.1008897G>A						uc002lqp.1_RNA	p.S891S	NM_138690	NP_619635	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	2673	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	891			Cytoplasmic (Potential).		Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.2673G>A	CCDS32861.1																																																																																				0.706	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			3	11	0	0	0	0.004672	0	3	11				
ABHD17A	81926	broad.mit.edu	37	19	1881444	1881444	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:1881444G>A	ENST00000292577.7	-	2	555	c.122C>T	c.(121-123)cCc>cTc	p.P41L	ABHD17A_ENST00000250974.9_Missense_Mutation_p.P41L|ABHD17A_ENST00000590661.1_Missense_Mutation_p.P41L	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	41						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P41L(1)									CCCCGGCTCGGGCTCAGGCAC	0.756																																							uc002lug.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(121-123)CCC>CTC		hypothetical protein LOC81926 isoform 2							12.0	17.0	15.0					19																	1881444		2019	4113	6132	SO:0001583	missense	81926					extracellular region	hydrolase activity	g.chr19:1881444G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.122C>T	19.37:g.1881444G>A	ENSP00000292577:p.Pro41Leu					FAM108A1_uc002lud.2_Missense_Mutation_p.P41L|FAM108A1_uc002lue.2_Missense_Mutation_p.P41L|FAM108A1_uc002luf.2_Missense_Mutation_p.P41L	p.P41L	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	528	-		Ovarian(11;0.000137)	41					A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	c.122C>T	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	g	9.044	0.990469	0.18966	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.30448	1.53;1.56	3.69	3.69	0.42338	.	0.176023	0.39083	N	0.001461	T	0.28532	0.0706	L	0.47016	1.485	0.80722	D	1	B;B;B;B	0.13145	0.0;0.007;0.002;0.002	B;B;B;B	0.17722	0.002;0.019;0.005;0.007	T	0.09314	-1.0680	10	0.33940	T	0.23	-23.2184	14.9577	0.71131	0.0:0.0:1.0:0.0	.	41;41;41;41	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	L	41	ENSP00000250974:P41L;ENSP00000292577:P41L	ENSP00000250974:P41L	P	-	2	0	FAM108A1	1832444	1.000000	0.71417	0.880000	0.34516	0.134000	0.20937	5.089000	0.64492	2.071000	0.62044	0.561000	0.74099	CCC		0.756	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		7	50	0	0	0	0.006214	0	7	50				
LMNB2	84823	broad.mit.edu	37	19	2444466	2444466	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:2444466C>G	ENST00000582871.1	-	2	363	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	LMNB2_ENST00000325327.3_Missense_Mutation_p.E113Q	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	93	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.E93Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCACGCTCTCGAGCCGTC	0.627																																							uc002lvy.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(277-279)GAG>CAG		lamin B2							146.0	94.0	112.0					19																	2444466		2203	4300	6503	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2444466C>G	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.277G>C	19.37:g.2444466C>G	ENSP00000462730:p.Glu93Gln					LMNB2_uc002lwa.1_Missense_Mutation_p.E113Q	p.E93Q	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	364	-		Hepatocellular(1079;0.137)	93			Rod.|Coil 1B.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.277G>C		.	.	.	.	.	.	.	.	.	.	C	20.4	3.989345	0.74589	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.04	4.04	0.47022	Filament (1);	0.108329	0.64402	D	0.000009	T	0.69762	0.3147	M	0.73319	2.225	0.80722	D	1	B	0.34255	0.445	P	0.45167	0.472	T	0.74003	-0.3804	9	0.56958	D	0.05	.	14.7613	0.69607	0.0:1.0:0.0:0.0	.	93	Q03252	LMNB2_HUMAN	Q	93	.	ENSP00000327054:E93Q	E	-	1	0	LMNB2	2395466	0.997000	0.39634	0.821000	0.32701	0.540000	0.34992	3.707000	0.54838	1.815000	0.52974	0.561000	0.74099	GAG		0.627	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		6	47	0	0	0	0.001168	0	6	47				
NFIC	4782	broad.mit.edu	37	19	3381731	3381731	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:3381731G>C	ENST00000443272.2	+	2	103	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	NFIC_ENST00000341919.3_Missense_Mutation_p.E18Q|NFIC_ENST00000395111.3_Missense_Mutation_p.E9Q|NFIC_ENST00000589123.1_Missense_Mutation_p.E9Q|NFIC_ENST00000586919.1_Missense_Mutation_p.E9Q|NFIC_ENST00000590282.1_Missense_Mutation_p.E18Q|NFIC_ENST00000346156.5_Missense_Mutation_p.E9Q	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	18					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E9Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCGTTCATCGAGGCCCTGCT	0.657																																							uc010xhi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)GAG>CAG		nuclear factor I/C isoform 2							44.0	41.0	42.0					19																	3381731		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3381731G>C	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.52G>C	19.37:g.3381731G>C	ENSP00000396843:p.Glu18Gln					NFIC_uc002lxo.2_Missense_Mutation_p.E9Q|NFIC_uc010xhh.1_Missense_Mutation_p.E9Q|NFIC_uc002lxp.2_Missense_Mutation_p.E18Q|NFIC_uc010xhj.1_Missense_Mutation_p.E18Q|NFIC_uc002lxq.1_5'UTR	p.E18Q	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	114	+		Hepatocellular(1079;0.137)	18			CTF/NF-I.		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.52G>C	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293849	0.80914	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.56275	0.47;0.59;0.47	3.88	3.88	0.44766	CTF transcription factor/nuclear factor 1, N-terminal (1);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.997;0.997	T	0.73871	-0.3846	10	0.87932	D	0	.	14.8198	0.70062	0.0:0.0:1.0:0.0	.	18;18;9;18;9	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	Q	9;9;9;18;18;18	ENSP00000378543:E9Q;ENSP00000301935:E9Q;ENSP00000342194:E18Q	ENSP00000269778:E18Q	E	+	1	0	NFIC	3332731	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.682000	0.98655	1.879000	0.54435	0.467000	0.42956	GAG		0.657	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		12	24	0	0	0	0.001368	0	12	24				
NFIC	4782	broad.mit.edu	37	19	3381733	3381733	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:3381733G>T	ENST00000443272.2	+	2	105	c.54G>T	c.(52-54)gaG>gaT	p.E18D	NFIC_ENST00000341919.3_Missense_Mutation_p.E18D|NFIC_ENST00000395111.3_Missense_Mutation_p.E9D|NFIC_ENST00000589123.1_Missense_Mutation_p.E9D|NFIC_ENST00000586919.1_Missense_Mutation_p.E9D|NFIC_ENST00000590282.1_Missense_Mutation_p.E18D|NFIC_ENST00000346156.5_Missense_Mutation_p.E9D	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	18					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E9D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGTTCATCGAGGCCCTGCTGC	0.657																																							uc010xhi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)GAG>GAT		nuclear factor I/C isoform 2							45.0	42.0	43.0					19																	3381733		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3381733G>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.54G>T	19.37:g.3381733G>T	ENSP00000396843:p.Glu18Asp					NFIC_uc002lxo.2_Missense_Mutation_p.E9D|NFIC_uc010xhh.1_Missense_Mutation_p.E9D|NFIC_uc002lxp.2_Missense_Mutation_p.E18D|NFIC_uc010xhj.1_Missense_Mutation_p.E18D|NFIC_uc002lxq.1_Translation_Start_Site	p.E18D	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	116	+		Hepatocellular(1079;0.137)	18			CTF/NF-I.		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.54G>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435471	0.83885	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.56103	0.48;0.6;0.49	3.88	3.88	0.44766	CTF transcription factor/nuclear factor 1, N-terminal (1);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.996;0.996;0.996	D;D;D;D;D	0.79108	0.992;0.992;0.987;0.987;0.987	T	0.73694	-0.3902	10	0.87932	D	0	.	14.8198	0.70062	0.0:0.0:1.0:0.0	.	18;18;9;18;9	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	D	9;9;9;18;18;18	ENSP00000378543:E9D;ENSP00000301935:E9D;ENSP00000342194:E18D	ENSP00000269778:E18D	E	+	3	2	NFIC	3332733	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.850000	0.86915	1.879000	0.54435	0.467000	0.42956	GAG		0.657	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		12	24	1	0	2.68362e-12	0.001368	4.09186e-12	12	24				
MATK	4145	broad.mit.edu	37	19	3785124	3785124	+	Silent	SNP	G	G	T	rs368540633		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:3785124G>T	ENST00000310132.6	-	2	408	c.10C>A	c.(10-12)Cga>Aga	p.R4R	MATK_ENST00000590821.1_5'Flank|MATK_ENST00000395045.2_Intron|MATK_ENST00000585778.1_Silent_p.R4R|MATK_ENST00000395040.2_Intron	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	4					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R4R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGAGCCTCGCCCCGCCATC	0.627																																							uc002lyt.2		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(10-12)CGA>AGA		megakaryocyte-associated tyrosine kinase isoform							36.0	39.0	38.0					19																	3785124		2203	4300	6503	SO:0001819	synonymous_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3785124G>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.10C>A	19.37:g.3785124G>T						MATK_uc002lyv.2_Intron|MATK_uc002lyu.2_Intron|MATK_uc010dtq.2_Silent_p.R4R	p.R4R	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	410	-		Hepatocellular(1079;0.137)	4					B3KNZ9|Q9NST8	Silent	SNP	ENST00000310132.6	37	c.10C>A	CCDS12114.1																																																																																				0.627	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		6	19	1	0	0.00198382	0.001984	0.00218689	6	19				
GPR108	56927	broad.mit.edu	37	19	6732044	6732044	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:6732044G>C	ENST00000264080.7	-	13	1274	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Silent_p.P174P	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	416						integral component of membrane (GO:0016021)		p.P416P(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ACCAGACTACGGGGAACAGGA	0.622																																							uc002mfp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1246-1248)CCC>CCG		G protein-coupled receptor 108 isoform 1							44.0	56.0	52.0					19																	6732044		2182	4277	6459	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6732044G>C		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1248C>G	19.37:g.6732044G>C						GPR108_uc010duv.2_5'UTR|GPR108_uc002mfn.2_Silent_p.P87P|GPR108_uc002mfo.3_Silent_p.P174P|GPR108_uc010duw.2_RNA	p.P416P	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN			13	1294	-			416			Helical; Name=5; (Potential).		B9EJD7	Silent	SNP	ENST00000264080.7	37	c.1248C>G	CCDS42479.1																																																																																				0.622	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			4	27	0	0	0	0.009096	0	4	27				
MUC16	94025	broad.mit.edu	37	19	9058698	9058698	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9058698G>T	ENST00000397910.4	-	3	28951	c.28748C>A	c.(28747-28749)cCt>cAt	p.P9583H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9585	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P9583H(1)|p.P5216H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCAGTCCAGGGGTCAGAGA	0.512																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28747-28749)CCT>CAT		mucin 16							89.0	82.0	84.0					19																	9058698		2010	4180	6190	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058698G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28748C>A	19.37:g.9058698G>T	ENSP00000381008:p.Pro9583His						p.P9583H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28952	-			9585			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28748C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.781	0.145171	0.09134	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	2.5	-1.43	0.08884	.	.	.	.	.	T	0.05456	0.0144	L	0.32530	0.975	.	.	.	D	0.53462	0.96	P	0.56751	0.805	T	0.35001	-0.9806	8	0.87932	D	0	.	1.4441	0.02360	0.1369:0.2099:0.4389:0.2143	.	9583	B5ME49	.	H	9583	ENSP00000381008:P9583H	ENSP00000381008:P9583H	P	-	2	0	MUC16	8919698	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.111000	0.15458	-0.164000	0.10927	0.305000	0.20034	CCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	39	1	0	7.48243e-07	0.006214	9.50738e-07	9	39				
MUC16	94025	broad.mit.edu	37	19	9059073	9059073	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9059073G>T	ENST00000397910.4	-	3	28576	c.28373C>A	c.(28372-28374)tCc>tAc	p.S9458Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9460	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S9458Y(1)|p.S5091Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGGAGAGGAGTGGCTACT	0.483																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28372-28374)TCC>TAC		mucin 16							91.0	92.0	92.0					19																	9059073		2008	4176	6184	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059073G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28373C>A	19.37:g.9059073G>T	ENSP00000381008:p.Ser9458Tyr						p.S9458Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28577	-			9460			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28373C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.943	-0.218431	0.06101	.	.	ENSG00000181143	ENST00000397910	T	0.29917	1.55	2.1	0.958	0.19619	.	.	.	.	.	T	0.33702	0.0872	L	0.34521	1.04	.	.	.	P	0.51791	0.948	P	0.59948	0.866	T	0.40194	-0.9576	8	0.87932	D	0	.	3.8501	0.08951	0.2637:0.0:0.7363:0.0	.	9458	B5ME49	.	Y	9458	ENSP00000381008:S9458Y	ENSP00000381008:S9458Y	S	-	2	0	MUC16	8920073	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-0.067000	0.11579	0.371000	0.24564	0.306000	0.20318	TCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	87	1	0	2.46105e-21	0.002096	4.28735e-21	33	87				
MUC16	94025	broad.mit.edu	37	19	9070836	9070836	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9070836G>C	ENST00000397910.4	-	3	16813	c.16610C>G	c.(16609-16611)cCc>cGc	p.P5537R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5539	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5537R(2)|p.P1170R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTATTGTGGGCCGATCAAG	0.483																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16609-16611)CCC>CGC		mucin 16							199.0	179.0	185.0					19																	9070836		1978	4156	6134	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070836G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16610C>G	19.37:g.9070836G>C	ENSP00000381008:p.Pro5537Arg						p.P5537R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16814	-			5539			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16610C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.929	-0.446424	0.04604	.	.	ENSG00000181143	ENST00000397910	T	0.03242	4.0	1.89	-3.78	0.04333	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.18968	0.032	B	0.10450	0.005	T	0.46289	-0.9202	8	0.87932	D	0	.	0.3556	0.00356	0.2911:0.1957:0.3152:0.198	.	5537	B5ME49	.	R	5537	ENSP00000381008:P5537R	ENSP00000381008:P5537R	P	-	2	0	MUC16	8931836	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.031000	0.12287	-1.012000	0.03387	0.299000	0.19835	CCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	127	0	0	0	0.000602	0	5	127				
MUC16	94025	broad.mit.edu	37	19	9075173	9075173	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9075173C>G	ENST00000397910.4	-	3	12476	c.12273G>C	c.(12271-12273)atG>atC	p.M4091I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4093	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.M4091I(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCAAGGATCATTCCTCCAG	0.527																																							uc002mkp.2		NA																	4	Substitution - Missense(4)		lung(2)|skin(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12271-12273)ATG>ATC		mucin 16							118.0	114.0	115.0					19																	9075173		2057	4203	6260	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075173C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12273G>C	19.37:g.9075173C>G	ENSP00000381008:p.Met4091Ile						p.M4091I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12477	-			4093			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12273G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.369	-0.128806	0.06753	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	2.09	-3.47	0.04753	.	.	.	.	.	T	0.01940	0.0061	L	0.31664	0.95	.	.	.	B	0.10296	0.003	B	0.10450	0.005	T	0.37911	-0.9685	8	0.87932	D	0	.	7.2638	0.26217	0.0:0.6704:0.0:0.3296	.	4091	B5ME49	.	I	4091	ENSP00000381008:M4091I	ENSP00000381008:M4091I	M	-	3	0	MUC16	8936173	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.001000	0.01465	-0.877000	0.04012	0.313000	0.20887	ATG		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	48	0	0	0	0.001882	0	21	48				
MUC16	94025	broad.mit.edu	37	19	9082767	9082767	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9082767G>T	ENST00000397910.4	-	1	9251	c.9048C>A	c.(9046-9048)ctC>ctA	p.L3016L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3017	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L3016L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGCTGAAGAGAGTTGTGA	0.493																																							uc002mkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(9046-9048)CTC>CTA		mucin 16							118.0	119.0	119.0					19																	9082767		2093	4229	6322	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082767G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9048C>A	19.37:g.9082767G>T							p.L3016L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9252	-			3017			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.9048C>A	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	94	1	0	1.64293e-13	0.00333	2.56865e-13	24	94				
OR7G1	125962	broad.mit.edu	37	19	9226195	9226195	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:9226195A>G	ENST00000541538.1	-	1	244	c.245T>C	c.(244-246)cTa>cCa	p.L82P	OR7G1_ENST00000293614.1_Missense_Mutation_p.L82P	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L82P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GATGTTCACTAGGATCTTTGG	0.458																																							uc002mks.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(244-246)CTA>CCA		olfactory receptor, family 7, subfamily G,							225.0	224.0	224.0					19																	9226195		2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226195A>G		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.245T>C	19.37:g.9226195A>G	ENSP00000444134:p.Leu82Pro						p.L82P	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN			1	245	-			82			Extracellular (Potential).		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.245T>C	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	a	9.172	1.021293	0.19433	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00441	7.41;7.41	2.88	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30676	U	0.009108	T	0.00936	0.0031	H	0.99011	4.4	0.24058	N	0.996021	P	0.45594	0.862	B	0.40134	0.32	T	0.28744	-1.0034	10	0.87932	D	0	.	10.849	0.46759	1.0:0.0:0.0:0.0	.	82	Q8NGA0	OR7G1_HUMAN	P	82	ENSP00000293614:L82P;ENSP00000444134:L82P	ENSP00000293614:L82P	L	-	2	0	OR7G1	9087195	0.098000	0.21812	0.669000	0.29828	0.014000	0.08584	3.870000	0.56070	1.601000	0.50113	0.324000	0.21423	CTA		0.458	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			48	120	0	0	0	0.00361	0	48	120				
DNMT1	1786	broad.mit.edu	37	19	10249218	10249218	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:10249218C>G	ENST00000340748.4	-	34	4199	c.3964G>C	c.(3964-3966)Gag>Cag	p.E1322Q	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.E1322Q|DNMT1_ENST00000359526.4_Missense_Mutation_p.E1338Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1322	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1322Q(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGGAGCTTCTCTCCAGGGGCC	0.642																																							uc002mng.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3964-3966)GAG>CAG		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						48.0	46.0	47.0					19																	10249218		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10249218C>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3964G>C	19.37:g.10249218C>G	ENSP00000345739:p.Glu1322Gln					DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.E246Q|DNMT1_uc010xlc.1_Missense_Mutation_p.E1338Q|DNMT1_uc002mnh.2_Missense_Mutation_p.E1217Q|DNMT1_uc010xld.1_Missense_Mutation_p.E1322Q	p.E1322Q	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		34	4144	-			1322			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3964G>C	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894436	0.52121	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84442	-1.85;-1.85;-1.85	5.55	5.55	0.83447	.	0.114022	0.64402	D	0.000012	D	0.88343	0.6411	M	0.76727	2.345	0.80722	D	1	B;B;B	0.27450	0.149;0.149;0.179	B;B;B	0.37989	0.17;0.17;0.262	D	0.87073	0.2161	10	0.66056	D	0.02	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	1322;1338;1322	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	Q	1338;1322;1322;1190	ENSP00000352516:E1338Q;ENSP00000440457:E1322Q;ENSP00000345739:E1322Q	ENSP00000345739:E1322Q	E	-	1	0	DNMT1	10110218	1.000000	0.71417	0.503000	0.27626	0.114000	0.19823	7.449000	0.80643	2.607000	0.88179	0.655000	0.94253	GAG		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		6	52	0	0	0	0.001168	0	6	52				
GCDH	2639	broad.mit.edu	37	19	13004356	13004356	+	Missense_Mutation	SNP	C	C	G	rs372429120		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:13004356C>G	ENST00000222214.5	+	6	605	c.394C>G	c.(394-396)Cgg>Ggg	p.R132G	GCDH_ENST00000457854.1_Missense_Mutation_p.R132G|GCDH_ENST00000591470.1_Missense_Mutation_p.R132G|GCDH_ENST00000422947.2_Missense_Mutation_p.R88G			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	132					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.R132G(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	AGAGCTGGAGCGGGTGGACAG	0.587																																					GBM(123;875 1636 7726 16444 26754)	GBM(123;875 1636 7726 16444 26754)	uc002mvq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(394-396)CGG>GGG		glutaryl-Coenzyme A dehydrogenase isoform a							125.0	95.0	105.0					19																	13004356		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13004356C>G	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.394C>G	19.37:g.13004356C>G	ENSP00000222214:p.Arg132Gly					GCDH_uc010xms.1_Missense_Mutation_p.R99G|GCDH_uc002mvp.2_Missense_Mutation_p.R132G|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Missense_Mutation_p.R88G	p.R132G	NM_000159	NP_000150	Q92947	GCDH_HUMAN			6	471	+			132					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.394C>G	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978456	0.74360	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99815	-6.9;-6.9;-6.9	5.19	4.13	0.48395	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.056617	0.64402	D	0.000001	D	0.99871	0.9939	H	0.95884	3.735	0.80722	D	1	D;P;D;D	0.89917	1.0;0.903;0.992;0.99	D;P;D;D	0.83275	0.996;0.849;0.962;0.937	D	0.96668	0.9494	10	0.87932	D	0	.	12.7433	0.57266	0.1714:0.8286:0.0:0.0	.	88;99;132;132	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	G	132;132;99;88	ENSP00000394872:R132G;ENSP00000222214:R132G;ENSP00000394821:R88G	ENSP00000222214:R132G	R	+	1	2	GCDH	12865356	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.204000	0.42761	1.260000	0.44134	0.563000	0.77884	CGG		0.587	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			14	58	0	0	0	0.00245	0	14	58				
EMR2	30817	broad.mit.edu	37	19	14875407	14875407	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:14875407G>A	ENST00000315576.3	-	11	1373	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	EMR2_ENST00000346057.1_Silent_p.L259L|EMR2_ENST00000594076.1_Silent_p.L215L|EMR2_ENST00000392967.2_Silent_p.L308L|EMR2_ENST00000601345.1_Silent_p.L308L|EMR2_ENST00000392964.3_Silent_p.L47L|EMR2_ENST00000595839.1_Silent_p.L166L|EMR2_ENST00000353876.1_Silent_p.L215L|EMR2_ENST00000596991.2_Silent_p.L308L|EMR2_ENST00000353005.1_Silent_p.L166L|EMR2_ENST00000392965.3_Silent_p.L308L|EMR2_ENST00000594294.1_Silent_p.L259L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	308					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.L308L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGCTCATCCAGCGCCTGTAAG	0.627																																							uc002mzp.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(922-924)CTG>TTG		egf-like module containing, mucin-like, hormone							34.0	32.0	33.0					19																	14875407		2203	4297	6500	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875407G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.922C>T	19.37:g.14875407G>A						EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Silent_p.L308L|EMR2_uc002mzo.1_Silent_p.L308L|EMR2_uc002mzq.1_Silent_p.L259L|EMR2_uc002mzr.1_Silent_p.L259L|EMR2_uc002mzs.1_Silent_p.L166L|EMR2_uc002mzt.1_Silent_p.L215L|EMR2_uc002mzu.1_Silent_p.L215L|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	p.L308L	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			11	1378	-			308			Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.922C>T	CCDS32935.1																																																																																				0.627	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			9	15	0	0	0	0.006214	0	9	15				
ILVBL	10994	broad.mit.edu	37	19	15230306	15230306	+	Silent	SNP	G	G	T	rs367772538		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:15230306G>T	ENST00000263383.3	-	8	976	c.837C>A	c.(835-837)atC>atA	p.I279I	ILVBL_ENST00000534378.1_Silent_p.I172I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	279						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.I279I(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCCGGCTCAGGATCTCCACAC	0.562																																							uc002nam.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(835-837)ATC>ATA		ilvB (bacterial acetolactate synthase)-like							36.0	37.0	36.0					19																	15230306		2203	4300	6503	SO:0001819	synonymous_variant	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230306G>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.837C>A	19.37:g.15230306G>T						ILVBL_uc010xof.1_5'Flank|ILVBL_uc010dzw.2_Silent_p.I172I	p.I279I	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			8	958	-			279					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	c.837C>A	CCDS12325.1																																																																																				0.562	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		4	35	1	0	0.00024832	0.009096	0.000283269	4	35				
CYP4F3	4051	broad.mit.edu	37	19	15757873	15757873	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:15757873C>A	ENST00000221307.8	+	4	402	c.355C>A	c.(355-357)Cca>Aca	p.P119T	CYP4F3_ENST00000585846.1_Missense_Mutation_p.P119T|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P119T|CYP4F3_ENST00000586182.2_Missense_Mutation_p.P119T	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	119					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.P119T(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCCATTGTACCAAAGGACAA	0.567																																							uc002nbj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(355-357)CCA>ACA		cytochrome P450, family 4, subfamily F,							95.0	85.0	88.0					19																	15757873		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15757873C>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.355C>A	19.37:g.15757873C>A	ENSP00000221307:p.Pro119Thr					CYP4F3_uc010xok.1_Missense_Mutation_p.P119T|CYP4F3_uc010xol.1_Missense_Mutation_p.P119T|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Missense_Mutation_p.P119T|CYP4F3_uc010xon.1_5'Flank	p.P119T	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			4	405	+			119					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.355C>A	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099466	0.37048	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.67698	-0.28	2.96	1.86	0.25419	.	0.834825	0.10107	U	0.715146	T	0.69486	0.3116	L	0.41632	1.29	0.24154	N	0.99568	P;P	0.49559	0.925;0.925	P;P	0.56916	0.809;0.809	T	0.58103	-0.7695	10	0.87932	D	0	.	9.2265	0.37410	0.0:0.7751:0.2249:0.0	.	119;119	B7Z8Z3;Q08477	.;CP4F3_HUMAN	T	46;119	ENSP00000221307:P119T	ENSP00000221307:P119T	P	+	1	0	CYP4F3	15618873	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	1.070000	0.30653	0.392000	0.25172	0.205000	0.17691	CCA		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		15	87	1	0	9.16793e-09	0.00499	1.26738e-08	15	87				
CYP4F12	66002	broad.mit.edu	37	19	15784338	15784338	+	Splice_Site	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:15784338G>A	ENST00000550308.1	+	2	379		c.e2-1		CYP4F12_ENST00000324632.10_5'UTR	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12						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)	CTGCCCTGCAGGATGTCGCTG	0.672																																							uc002nbl.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.e2-1		cytochrome P450, family 4, subfamily F,							42.0	45.0	44.0					19																	15784338		2192	4297	6489	SO:0001630	splice_region_variant	66002							g.chr19:15784338G>A	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.-1-1G>A	19.37:g.15784338G>A						CYP4F12_uc010xoo.1_Splice_Site|CYP4F12_uc010xop.1_Splice_Site		NM_023944	NP_076433					2	61	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Splice_Site	SNP	ENST00000550308.1	37	c.0_splice	CCDS42517.1																																																																																				0.672	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		Intron	5	58	0	0	0	0.000602	0	5	58				
RAB8A	4218	broad.mit.edu	37	19	16222769	16222769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:16222769G>T	ENST00000300935.3	+	1	331	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W	RAB8A_ENST00000586682.1_Missense_Mutation_p.G20W|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	20					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CTCGGGGGTGGGGAAGACCTG	0.607																																							uc002ndn.3		NA																	0				skin(1)	1						c.(58-60)GGG>TGG		mel transforming oncogene							169.0	171.0	171.0					19																	16222769		2203	4300	6503	SO:0001583	missense	4218				cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding	g.chr19:16222769G>T		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.58G>T	19.37:g.16222769G>T	ENSP00000300935:p.Gly20Trp					RAB8A_uc002ndm.1_Missense_Mutation_p.G20W|RAB8A_uc010xpc.1_Missense_Mutation_p.G20W	p.G20W	NM_005370	NP_005361	P61006	RAB8A_HUMAN			1	280	+			20			GTP (By similarity).		B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	c.58G>T	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312097	0.95655	.	.	ENSG00000167461	ENST00000300935	D	0.99422	-5.88	4.54	4.54	0.55810	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96455	0.9337	10	0.87932	D	0	.	16.7905	0.85588	0.0:0.0:1.0:0.0	.	20;20;15	B4DEK7;P61006;Q59EP4	.;RAB8A_HUMAN;.	W	20	ENSP00000300935:G20W	ENSP00000300935:G20W	G	+	1	0	RAB8A	16083769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.156000	0.94705	2.516000	0.84829	0.491000	0.48974	GGG		0.607	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		53	133	1	0	3.31993e-32	0.00361	6.22739e-32	53	133				
NXNL1	115861	broad.mit.edu	37	19	17571646	17571646	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:17571646G>T	ENST00000301944.2	-	1	117	c.33C>A	c.(31-33)atC>atA	p.I11I	CTD-2521M24.10_ENST00000594663.1_5'Flank	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	11	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.I11I(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						TATTGTTGCGGATCAGGATGC	0.637																																							uc002ngs.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)ATC>ATA		nucleoredoxin-like 1							67.0	71.0	69.0					19																	17571646		2203	4300	6503	SO:0001819	synonymous_variant	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571646G>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.33C>A	19.37:g.17571646G>T							p.I11I	NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN			1	80	-			11			Thioredoxin.		Q0QD37	Silent	SNP	ENST00000301944.2	37	c.33C>A	CCDS12360.1																																																																																				0.637	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454		19	48	1	0	0.000132079	0.008871	0.000152819	19	48				
IL12RB1	3594	broad.mit.edu	37	19	18170764	18170764	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:18170764G>A	ENST00000600835.2	-	17	2221	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A	IL12RB1_ENST00000593993.2_Silent_p.A641A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	641					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.A641A(1)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCAGCTCAGGGGCACCCTCAG	0.622																																							uc002nhw.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1921-1923)GCC>GCT		interleukin 12 receptor, beta 1 isoform 1							36.0	39.0	38.0					19																	18170764		1953	4143	6096	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18170764G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1923C>T	19.37:g.18170764G>A						IL12RB1_uc010xqb.1_Silent_p.A641A|IL12RB1_uc002nhx.1_Silent_p.A681A	p.A641A	NM_005535	NP_005526	P42701	I12R1_HUMAN			16	1987	-			641			Cytoplasmic (Potential).		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1923C>T	CCDS54232.1																																																																																				0.622	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			4	6	0	0	0	0.009096	0	4	6				
ZNF208	7757	broad.mit.edu	37	19	22154744	22154744	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22154744C>A	ENST00000397126.4	-	4	3240	c.3092G>T	c.(3091-3093)tGt>tTt	p.C1031F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1031					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C903F(2)|p.C1031F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTCTTCACATTTGTAGGG	0.418																																							uc002nqp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2707-2709)TGT>TTT		zinc finger protein 208							89.0	97.0	94.0					19																	22154744		2136	4255	6391	SO:0001583	missense	7757							g.chr19:22154744C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3092G>T	19.37:g.22154744C>A	ENSP00000380315:p.Cys1031Phe					ZNF208_uc002nqo.1_Intron	p.C903F	NM_007153	NP_009084					6	2857	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2708G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975384	0.34848	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85088	-1.94	2.58	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90123	0.6914	.	.	.	0.09310	N	0.999998	D	0.89917	1.0	D	0.72075	0.976	T	0.79797	-0.1652	8	0.72032	D	0.01	.	8.043	0.30532	0.0:0.865:0.0:0.135	.	903	O43345	ZN208_HUMAN	F	1031;903	ENSP00000380315:C1031F	ENSP00000380315:C1031F	C	-	2	0	ZNF208	21946584	0.934000	0.31675	0.002000	0.10522	0.127000	0.20565	2.899000	0.48679	0.115000	0.18071	0.289000	0.19496	TGT		0.418	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		35	73	1	0	4.34311e-12	0.003271	6.57658e-12	35	73				
ZNF208	7757	broad.mit.edu	37	19	22155075	22155075	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22155075C>G	ENST00000397126.4	-	4	2909	c.2761G>C	c.(2761-2763)Gaa>Caa	p.E921Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	921					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E821Q(2)|p.E921Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.388																																							uc002nqp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2461-2463)GAA>CAA		zinc finger protein 208							51.0	54.0	53.0					19																	22155075		2092	4228	6320	SO:0001583	missense	7757							g.chr19:22155075C>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2761G>C	19.37:g.22155075C>G	ENSP00000380315:p.Glu921Gln					ZNF208_uc002nqo.1_Intron	p.E821Q	NM_007153	NP_009084					5	2610	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2461G>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	3.976	-0.007494	0.07773	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07444	3.19	3.07	0.478	0.16789	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.79784	0.993	T	0.15665	-1.0429	8	0.29301	T	0.29	.	7.0564	0.25102	0.182:0.4622:0.3559:0.0	.	821	O43345	ZN208_HUMAN	Q	921;821	ENSP00000380315:E921Q	ENSP00000380315:E921Q	E	-	1	0	ZNF208	21946915	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-1.883000	0.01623	0.293000	0.22520	0.472000	0.43445	GAA		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	43	0	0	0	0.001168	0	6	43				
ZNF208	7757	broad.mit.edu	37	19	22155565	22155565	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22155565G>T	ENST00000397126.4	-	4	2419	c.2271C>A	c.(2269-2271)gcC>gcA	p.A757A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A657A(2)|p.A757A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCACTTATAGGCTTTGCCAC	0.368																																							uc002nqp.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(5)|skin(2)	7						c.(1969-1971)GCC>GCA		zinc finger protein 208							31.0	33.0	32.0					19																	22155565		1969	4166	6135	SO:0001819	synonymous_variant	7757							g.chr19:22155565G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2271C>A	19.37:g.22155565G>T						ZNF208_uc002nqo.1_Intron	p.A657A	NM_007153	NP_009084					5	2120	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1971C>A	CCDS54240.1																																																																																				0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		19	28	1	0	3.83957e-06	0.00278	4.73793e-06	19	28				
ZNF492	57615	broad.mit.edu	37	19	22847748	22847748	+	Missense_Mutation	SNP	G	G	T	rs578217938		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:22847748G>T	ENST00000456783.2	+	4	1521	c.1277G>T	c.(1276-1278)tGt>tTt	p.C426F	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	426					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.C426F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGTGAAGAATGTGGCAAAGCT	0.358																																							uc002nqw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1276-1278)TGT>TTT		zinc finger protein 492							25.0	26.0	25.0					19																	22847748		1731	3726	5457	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847748G>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1277G>T	19.37:g.22847748G>T	ENSP00000413660:p.Cys426Phe						p.C426F	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1521	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	426			C2H2-type 11.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1277G>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449390	0.43531	.	.	ENSG00000229676	ENST00000456783	D	0.85861	-2.04	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93301	0.7865	H	0.96333	3.805	0.38893	D	0.957165	D	0.89917	1.0	D	0.97110	1.0	D	0.91562	0.5265	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	426	Q9P255	ZN492_HUMAN	F	426	ENSP00000413660:C426F	ENSP00000413660:C426F	C	+	2	0	ZNF492	22639588	1.000000	0.71417	0.184000	0.23157	0.185000	0.23345	4.781000	0.62389	0.269000	0.21961	0.274000	0.19336	TGT		0.358	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		15	75	1	0	1.87028e-06	0.001882	2.35121e-06	15	75				
CCNE1	898	broad.mit.edu	37	19	30303884	30303884	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:30303884G>A	ENST00000262643.3	+	4	399	c.120G>A	c.(118-120)caG>caA	p.Q40Q	CCNE1_ENST00000357943.5_Silent_p.Q40Q|CCNE1_ENST00000444983.2_Silent_p.Q25Q	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	40					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.Q40Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AGTTTTTGCAGGATCCAGATG	0.527			A		serous ovarian																																		uc002nsn.2		NA		Dom	yes		19	19q12	898		cyclin E1			E					1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(118-120)CAG>CAA		cyclin E1 isoform 1							81.0	85.0	84.0					19																	30303884		2203	4300	6503	SO:0001819	synonymous_variant	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30303884G>A	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.120G>A	19.37:g.30303884G>A						CCNE1_uc002nso.2_Silent_p.Q25Q	p.Q40Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		4	303	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		40					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	37	c.120G>A	CCDS12419.1																																																																																				0.527	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		41	59	0	0	0	0.002522	0	41	59				
KCTD15	79047	broad.mit.edu	37	19	34302440	34302440	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:34302440C>G	ENST00000430256.3	+	5	1084	c.676C>G	c.(676-678)Cgg>Ggg	p.R226G	KCTD15_ENST00000588881.1_Missense_Mutation_p.R226G|KCTD15_ENST00000284006.6_Missense_Mutation_p.R226G|KCTD15_ENST00000589786.1_Missense_Mutation_p.R226G			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	226					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)			p.R226G(1)		endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					TGGCTACTGCCGGCTCAACTC	0.697																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	uc002nuy.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(676-678)CGG>GGG		potassium channel tetramerisation domain							21.0	20.0	20.0					19																	34302440		2198	4296	6494	SO:0001583	missense	79047					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:34302440C>G	AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.676C>G	19.37:g.34302440C>G	ENSP00000394390:p.Arg226Gly					KCTD15_uc002nuv.2_Missense_Mutation_p.R226G|KCTD15_uc002nuw.3_Missense_Mutation_p.R226G|KCTD15_uc010xrt.1_Missense_Mutation_p.R226G|KCTD15_uc002nux.3_Missense_Mutation_p.R226G	p.R226G	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN			6	944	+	Esophageal squamous(110;0.162)		226					A8K600|Q9BVI6	Missense_Mutation	SNP	ENST00000430256.3	37	c.676C>G	CCDS46039.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536121	0.45176	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.76839	0.92;-1.05	5.01	-1.88	0.07713	.	0.048040	0.85682	D	0.000000	T	0.66056	0.2751	L	0.36672	1.1	0.58432	D	0.999993	B;B	0.09022	0.001;0.002	B;B	0.11329	0.001;0.006	T	0.51996	-0.8634	10	0.28530	T	0.3	.	15.6994	0.77533	0.7077:0.2923:0.0:0.0	.	226;226	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	G	226;226;229	ENSP00000394390:R226G;ENSP00000284006:R226G	ENSP00000284006:R226G	R	+	1	2	KCTD15	38994280	0.996000	0.38824	0.963000	0.40424	0.999000	0.98932	0.488000	0.22371	-0.486000	0.06744	0.655000	0.94253	CGG		0.697	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451462.2	NM_024076		17	20	0	0	0	0.004007	0	17	20				
ZFP14	57677	broad.mit.edu	37	19	36831385	36831385	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:36831385C>G	ENST00000270001.7	-	5	1458	c.1343G>C	c.(1342-1344)gGt>gCt	p.G448A		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G448A(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AGGTTTCTCACCAGTGTGAAT	0.403																																							uc002odx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)GGT>GCT		zinc finger protein 14-like							108.0	103.0	105.0					19																	36831385		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831385C>G	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1343G>C	19.37:g.36831385C>G	ENSP00000270001:p.Gly448Ala					ZFP14_uc010xtd.1_Missense_Mutation_p.G449A|ZFP14_uc010eex.1_Missense_Mutation_p.G448A	p.G448A	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	1436	-	Esophageal squamous(110;0.162)		448					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.1343G>C	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	18.51	3.640046	0.67244	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26373	1.74	3.86	3.86	0.44501	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000405	T	0.45895	0.1365	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.49428	-0.8941	10	0.87932	D	0	.	15.0748	0.72069	0.0:1.0:0.0:0.0	.	448;448	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	A	448	ENSP00000270001:G448A	ENSP00000270001:G448A	G	-	2	0	ZFP14	41523225	0.781000	0.28676	1.000000	0.80357	0.994000	0.84299	1.777000	0.38604	2.142000	0.66516	0.551000	0.68910	GGT		0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		4	121	0	0	0	0.009096	0	4	121				
ZNF260	339324	broad.mit.edu	37	19	37005747	37005747	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:37005747C>T	ENST00000523638.1	-	3	1515	c.394G>A	c.(394-396)Gga>Aga	p.G132R	ZNF260_ENST00000592282.1_Missense_Mutation_p.G132R|ZNF260_ENST00000593142.1_Missense_Mutation_p.G132R|ZNF260_ENST00000588993.1_Missense_Mutation_p.G132R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	132					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G132R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGTTTGGTTCCTGTATGATTT	0.388																																							uc002oee.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GGA>AGA		zinc finger protein 260							162.0	161.0	161.0					19																	37005747		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005747C>T	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.394G>A	19.37:g.37005747C>T	ENSP00000429803:p.Gly132Arg					ZNF260_uc002oed.1_Missense_Mutation_p.G129R|ZNF260_uc010eey.1_Missense_Mutation_p.G129R|ZNF260_uc002oef.1_Missense_Mutation_p.G129R	p.G132R	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1238	-	Esophageal squamous(110;0.162)		132					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.394G>A	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683273	0.47991	.	.	ENSG00000254004	ENST00000523638	T	0.26223	1.75	4.26	4.26	0.50523	.	.	.	.	.	T	0.49983	0.1589	M	0.76328	2.33	0.48762	D	0.999702	D	0.76494	0.999	D	0.65987	0.94	T	0.55049	-0.8201	9	0.72032	D	0.01	.	16.6474	0.85180	0.0:1.0:0.0:0.0	.	132	Q3ZCT1	ZN260_HUMAN	R	132	ENSP00000429803:G132R	ENSP00000429803:G132R	G	-	1	0	ZNF260	41697587	0.016000	0.18221	0.013000	0.15412	0.047000	0.14425	1.129000	0.31381	2.646000	0.89796	0.655000	0.94253	GGA		0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		106	129	0	0	0	0.00361	0	106	129				
MAP4K1	11184	broad.mit.edu	37	19	39103297	39103297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:39103297C>A	ENST00000591517.1	-	9	647	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	MAP4K1_ENST00000586296.1_Nonsense_Mutation_p.E207*|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Nonsense_Mutation_p.E203*|MAP4K1_ENST00000396857.2_Nonsense_Mutation_p.E207*	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E207K(2)|p.E207*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCGGCCAGTTCGATGGCCGTG	0.627																																							uc002oix.1		NA																	4	Substitution - Nonsense(2)|Substitution - Missense(2)		large_intestine(2)|lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(619-621)GAA>TAA		mitogen-activated protein kinase kinase kinase							51.0	57.0	55.0					19																	39103297		2149	4269	6418	SO:0001587	stop_gained	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39103297C>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.619G>T	19.37:g.39103297C>A	ENSP00000465039:p.Glu207*					MAP4K1_uc002oiy.1_Nonsense_Mutation_p.E207*|MAP4K1_uc010xug.1_5'UTR	p.E207*	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	727	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		207			Protein kinase.			Nonsense_Mutation	SNP	ENST00000591517.1	37	c.619G>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	37	6.028261	0.97216	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	.	.	.	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3491	0.74368	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000221409:E207X	E	-	1	0	MAP4K1	43795137	1.000000	0.71417	0.727000	0.30756	0.657000	0.38888	7.423000	0.80229	1.893000	0.54813	0.462000	0.41574	GAA		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		42	30	1	0	2.51966e-14	0.00361	4.0127e-14	42	30				
ACTN4	81	broad.mit.edu	37	19	39214592	39214592	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:39214592C>T	ENST00000252699.2	+	14	1643	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L	ACTN4_ENST00000390009.3_Silent_p.L304L|ACTN4_ENST00000424234.2_Silent_p.L133L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	523					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L523L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGAAGCAGCTGGAGGCCAT	0.617																																					Colon(168;199 1940 10254 46213 46384)	Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1567-1569)CTG>TTG		actinin, alpha 4							33.0	35.0	34.0					19																	39214592		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39214592C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1567C>T	19.37:g.39214592C>T						ACTN4_uc002ojb.1_5'Flank	p.L523L	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		14	1626	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		523					A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.1567C>T	CCDS12518.1																																																																																				0.617	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			20	23	0	0	0	0.008871	0	20	23				
PSMC4	5704	broad.mit.edu	37	19	40480540	40480540	+	Splice_Site	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:40480540G>C	ENST00000157812.2	+	5	777	c.579G>C	c.(577-579)caG>caC	p.Q193H	PSMC4_ENST00000455878.2_Splice_Site_p.Q162H	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	193					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q193H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTACAAGCAGGTGAGGCGGT	0.612																																					Colon(105;1478 1543 4034 6132 38638)	Colon(105;1478 1543 4034 6132 38638)	uc002omq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)CAG>CAC		proteasome 26S ATPase subunit 4 isoform 1							47.0	51.0	50.0					19																	40480540		2203	4300	6503	SO:0001630	splice_region_variant	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480540G>C	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.579+1G>C	19.37:g.40480540G>C						PSMC4_uc002omr.2_Missense_Mutation_p.Q162H	p.Q193H	NM_006503	NP_006494	P43686	PRS6B_HUMAN			5	616	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		193					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.579G>C	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.472295	0.84533	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	.	0.115012	0.64402	D	0.000011	D	0.94722	0.8297	N	0.25094	0.71	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.74023	0.905;0.982	D	0.95743	0.8785	10	0.87932	D	0	-11.0714	16.1927	0.82004	0.0:0.0:1.0:0.0	.	162;193	P43686-2;P43686	.;PRS6B_HUMAN	H	193;162	ENSP00000157812:Q193H;ENSP00000413869:Q162H	ENSP00000157812:Q193H	Q	+	3	2	PSMC4	45172380	1.000000	0.71417	0.999000	0.59377	0.754000	0.42855	7.572000	0.82409	2.406000	0.81754	0.491000	0.48974	CAG		0.612	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	Missense_Mutation	39	31	0	0	0	0.005524	0	39	31				
ZNF780B	163131	broad.mit.edu	37	19	40554637	40554637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:40554637C>A	ENST00000434248.1	-	3	141	c.76G>T	c.(76-78)Gat>Tat	p.D26Y	ZNF780B_ENST00000598845.1_Missense_Mutation_p.D26Y|ZNF780B_ENST00000221355.6_5'UTR|AC005614.5_ENST00000595508.1_RNA	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D26Y(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCCTCTGATCAGGCTGCAGG	0.468																																							uc002omu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(76-78)GAT>TAT		zinc finger protein 780B							157.0	146.0	150.0					19																	40554637		2203	4297	6500	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40554637C>A	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.76G>T	19.37:g.40554637C>A	ENSP00000391641:p.Asp26Tyr					ZNF780B_uc002omv.2_5'UTR	p.D26Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			3	141	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		26			KRAB.		B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.76G>T	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	C	3.484	-0.105206	0.06967	.	.	ENSG00000128000	ENST00000434248	T	0.01685	4.69	2.36	-0.199	0.13220	Krueppel-associated box (4);	.	.	.	.	T	0.01454	0.0047	L	0.31294	0.92	0.09310	N	0.999998	P	0.38677	0.642	B	0.35931	0.214	T	0.47045	-0.9147	9	0.62326	D	0.03	.	3.8534	0.08965	0.0:0.5877:0.2492:0.1631	.	26	Q9Y6R6	Z780B_HUMAN	Y	26	ENSP00000391641:D26Y	ENSP00000391641:D26Y	D	-	1	0	ZNF780B	45246477	0.000000	0.05858	0.002000	0.10522	0.470000	0.32858	-2.137000	0.01304	-0.322000	0.08615	-0.671000	0.03813	GAT		0.468	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		114	125	1	0	1.6696e-61	0.00361	3.19006e-61	114	125				
PSG8	440533	broad.mit.edu	37	19	43268342	43268342	+	Silent	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:43268342A>C	ENST00000306511.4	-	2	253	c.156T>G	c.(154-156)ctT>ctG	p.L52L	PSG8_ENST00000401467.2_Silent_p.L52L|PSG8_ENST00000404209.4_Silent_p.L52L|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	52	Ig-like V-type.					extracellular region (GO:0005576)		p.L52L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGACAAGTAGAAGAACATCCT	0.463																																							uc002ouo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)CTT>CTG		pregnancy specific beta-1-glycoprotein 8 isoform							176.0	179.0	178.0					19																	43268342		2203	4299	6502	SO:0001819	synonymous_variant	440533					extracellular region		g.chr19:43268342A>C	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.156T>G	19.37:g.43268342A>C						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Silent_p.L52L|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Silent_p.L52L|PSG8_uc002oum.3_Silent_p.L52L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.L52L	p.L52L	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	254	-		Prostate(69;0.00899)	52			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.156T>G	CCDS33037.1																																																																																				0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			25	342	0	0	0	0.00333	0	25	342				
ZNF283	284349	broad.mit.edu	37	19	44351434	44351434	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:44351434A>G	ENST00000324461.7	+	7	978	c.681A>G	c.(679-681)agA>agG	p.R227R	ZNF283_ENST00000588797.1_Silent_p.R88R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R160R(1)|p.R227R(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AACATGAGAGAACTCATACAG	0.363																																							uc002oxr.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(679-681)AGA>AGG		zinc finger protein 283							60.0	67.0	65.0					19																	44351434		2089	4255	6344	SO:0001819	synonymous_variant	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44351434A>G	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.681A>G	19.37:g.44351434A>G						ZNF283_uc002oxp.3_Silent_p.R88R	p.R227R	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			7	949	+		Prostate(69;0.0352)	227			C2H2-type 1.		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	ENST00000324461.7	37	c.681A>G	CCDS46097.1																																																																																				0.363	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		5	136	0	0	0	0.000602	0	5	136				
DMWD	1762	broad.mit.edu	37	19	46287940	46287940	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:46287940C>T	ENST00000270223.6	-	4	1981	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	DMPK_ENST00000458663.2_5'Flank|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000447742.2_5'Flank|DMPK_ENST00000354227.5_5'Flank|DMWD_ENST00000377735.3_Intron|DMWD_ENST00000601370.1_5'Flank|DMPK_ENST00000291270.4_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	646								p.E646K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		caacttccttcccctgtctgg	0.572																																							uc002pdj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1936-1938)GAA>AAA		dystrophia myotonica-containing WD repeat motif							160.0	130.0	140.0					19																	46287940		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46287940C>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1936G>A	19.37:g.46287940C>T	ENSP00000270223:p.Glu646Lys					DMPK_uc002pdf.1_5'Flank|DMPK_uc002pdg.1_5'Flank|DMPK_uc002pdh.1_5'Flank|DMPK_uc002pdi.1_5'Flank|DMPK_uc010xxt.1_5'Flank|DMWD_uc002pdk.1_Intron|DMWD_uc010eko.1_Missense_Mutation_p.E331K	p.E646K	NM_004943	NP_004934	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	4	1982	-		Ovarian(192;0.0308)|all_neural(266;0.112)	646						Missense_Mutation	SNP	ENST00000270223.6	37	c.1936G>A	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524162	0.27299	.	.	ENSG00000185800	ENST00000270223;ENST00000537879	T	0.58506	0.33	3.4	1.18	0.20946	.	1.058830	0.07536	U	0.913050	T	0.30759	0.0775	N	0.08118	0	0.23186	N	0.998159	B	0.19583	0.037	B	0.18871	0.023	T	0.23619	-1.0183	10	0.08599	T	0.76	-0.19	5.0517	0.14513	0.0:0.6655:0.2127:0.1218	.	646	Q09019	DMWD_HUMAN	K	646;34	ENSP00000270223:E646K	ENSP00000270223:E646K	E	-	1	0	DMWD	50979780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.620000	0.24403	0.419000	0.25927	0.542000	0.68232	GAA		0.572	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		35	118	0	0	0	0.005524	0	35	118				
DACT3	147906	broad.mit.edu	37	19	47151918	47151918	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:47151918C>A	ENST00000391916.2	-	4	1784	c.1711G>T	c.(1711-1713)Ggt>Tgt	p.G571C	DACT3_ENST00000300875.4_Missense_Mutation_p.G346C	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	571					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.G571C(2)|p.G346C(1)		lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		ACGAGGCCACCGCTGCCGTCT	0.716																																							uc010ekq.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1711-1713)GGT>TGT		thymus expressed gene 3-like							28.0	37.0	34.0					19																	47151918		2185	4271	6456	SO:0001583	missense	147906							g.chr19:47151918C>A		CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"""arginine rich region 1"", ""dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"""	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1711G>T	19.37:g.47151918C>A	ENSP00000375783:p.Gly571Cys						p.G571C	NM_145056	NP_659493	Q96B18	DACT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)	4	1785	-		Ovarian(192;0.0798)|all_neural(266;0.107)	571						Missense_Mutation	SNP	ENST00000391916.2	37	c.1711G>T	CCDS12688.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083597	0.76642	.	.	ENSG00000197380	ENST00000391916;ENST00000300875	T;T	0.60299	0.2;0.2	3.11	3.11	0.35812	.	0.000000	0.36591	U	0.002509	T	0.71273	0.3320	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75153	-0.3418	10	0.87932	D	0	-1.1109	12.0067	0.53263	0.0:1.0:0.0:0.0	.	571	Q96B18	DACT3_HUMAN	C	571;346	ENSP00000375783:G571C;ENSP00000300875:G346C	ENSP00000300875:G346C	G	-	1	0	DACT3	51843758	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.156000	0.58138	1.710000	0.51325	0.289000	0.19496	GGT		0.716	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334090.1	NM_145056		28	54	1	0	9.80776e-20	0.00632	1.68195e-19	28	54				
PRKD2	25865	broad.mit.edu	37	19	47195022	47195022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:47195022C>A	ENST00000291281.4	-	12	1897	c.1672G>T	c.(1672-1674)Ggc>Tgc	p.G558C	RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.G401C|PRKD2_ENST00000433867.1_Missense_Mutation_p.G558C|PRKD2_ENST00000600194.1_Missense_Mutation_p.G401C|PRKD2_ENST00000595515.1_Missense_Mutation_p.G558C			Q9BZL6	KPCD2_HUMAN	protein kinase D2	558	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G558C(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGCCCTGAGCCCAGCACTTCG	0.592																																							uc002pfh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1672-1674)GGC>TGC		protein kinase D2 isoform A							90.0	87.0	88.0					19																	47195022		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47195022C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1672G>T	19.37:g.47195022C>A	ENSP00000291281:p.Gly558Cys					PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'Flank|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.G78C|PRKD2_uc002pff.2_Missense_Mutation_p.G78C|PRKD2_uc002pfg.2_Missense_Mutation_p.G401C|PRKD2_uc002pfi.2_Missense_Mutation_p.G558C|PRKD2_uc002pfj.2_Missense_Mutation_p.G558C|PRKD2_uc010xye.1_Missense_Mutation_p.G558C|PRKD2_uc002pfk.2_Missense_Mutation_p.G401C	p.G558C	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	2014	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	558			ATP (By similarity).|Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1672G>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476757	0.84640	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.82984	-1.67;-1.67	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.154075	0.41712	D	0.000836	D	0.93719	0.7993	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95590	0.8654	10	0.87932	D	0	-17.4069	15.1112	0.72359	0.0:1.0:0.0:0.0	.	558;558	E7ER94;Q9BZL6	.;KPCD2_HUMAN	C	558	ENSP00000291281:G558C;ENSP00000393978:G558C	ENSP00000291281:G558C	G	-	1	0	PRKD2	51886862	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.688000	0.84153	2.240000	0.73641	0.555000	0.69702	GGC		0.592	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		18	76	1	0	1.9806e-07	0.002299	2.58924e-07	18	76				
C5AR2	27202	broad.mit.edu	37	19	47844849	47844849	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:47844849C>A	ENST00000595464.1	+	2	1011	c.793C>A	c.(793-795)Ctc>Atc	p.L265I	C5AR2_ENST00000600626.1_Missense_Mutation_p.L265I|C5AR2_ENST00000257267.2_Missense_Mutation_p.L265I	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	265					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.L265I(1)									GAACTCCGCACTCCTGGCCAG	0.652																																							uc010ela.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)CTC>ATC		G protein-coupled receptor 77							37.0	41.0	40.0					19																	47844849		2203	4297	6500	SO:0001583	missense	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844849C>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.793C>A	19.37:g.47844849C>A	ENSP00000472620:p.Leu265Ile					GPR77_uc002pgk.1_Missense_Mutation_p.L265I	p.L265I	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	1011	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	265			Extracellular (Potential).		B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.793C>A	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712213	0.48517	.	.	ENSG00000134830	ENST00000257267	T	0.50548	0.74	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	3.595390	0.01281	U	0.009742	T	0.51601	0.1684	L	0.49350	1.555	0.27938	N	0.937636	P	0.45126	0.851	B	0.42138	0.377	T	0.52245	-0.8601	10	0.41790	T	0.15	.	13.9095	0.63857	0.0:1.0:0.0:0.0	.	265	Q9P296	C5ARL_HUMAN	I	265	ENSP00000257267:L265I	ENSP00000257267:L265I	L	+	1	0	GPR77	52536689	0.000000	0.05858	0.978000	0.43139	0.720000	0.41350	0.098000	0.15189	2.204000	0.70986	0.313000	0.20887	CTC		0.652	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		20	50	1	0	4.35082e-09	0.010504	6.08561e-09	20	50				
PPP1R15A	23645	broad.mit.edu	37	19	49376588	49376588	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:49376588G>T	ENST00000200453.5	+	2	367	c.98G>T	c.(97-99)tGg>tTg	p.W33L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	33	Required for localization in the endoplasmic reticulum.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.W33L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AGCCGCGCCTGGAGCCGCCTG	0.647																																							uc002pky.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(97-99)TGG>TTG		protein phosphatase 1, regulatory subunit 15A							26.0	30.0	28.0					19																	49376588		2201	4298	6499	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376588G>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.98G>T	19.37:g.49376588G>T	ENSP00000200453:p.Trp33Leu						p.W33L	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	367	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	33			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.98G>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767887	0.69878	.	.	ENSG00000087074	ENST00000200453	T	0.04654	3.58	4.28	4.28	0.50868	.	0.177586	0.28933	N	0.013676	T	0.15955	0.0384	L	0.54323	1.7	0.40432	D	0.979952	D	0.89917	1.0	D	0.83275	0.996	T	0.00104	-1.2058	10	0.87932	D	0	-11.057	12.5288	0.56102	0.0:0.0:1.0:0.0	.	33	O75807	PR15A_HUMAN	L	33	ENSP00000200453:W33L	ENSP00000200453:W33L	W	+	2	0	PPP1R15A	54068400	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.171000	0.58236	2.686000	0.91538	0.561000	0.74099	TGG		0.647	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		10	26	1	0	0.000978159	0.000978	0.00108999	10	26				
ZNF534	147658	broad.mit.edu	37	19	52942160	52942160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:52942160C>T	ENST00000332323.6	+	4	1547	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R483*|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R496*(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AAACCTTCAACGACATAGGAA	0.398																																							uc002pzk.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1486-1488)CGA>TGA		zinc finger protein 534 isoform 2							36.0	34.0	34.0					19																	52942160		692	1591	2283	SO:0001587	stop_gained	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942160C>T	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1486C>T	19.37:g.52942160C>T	ENSP00000327538:p.Arg496*					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.R483*	p.R496*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1547	+			496			C2H2-type 11.		Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	c.1486C>T	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828274	0.50845	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.8	-3.61	0.04556	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	2.8377	0.05520	0.1455:0.1808:0.5261:0.1476	.	.	.	.	X	496;483;495	.	ENSP00000327538:R496X	R	+	1	2	ZNF534	57633972	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.649000	0.00203	-2.007000	0.00956	-0.476000	0.04901	CGA		0.398	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		5	13	0	0	0	0.000602	0	5	13				
VN1R2	317701	broad.mit.edu	37	19	53761993	53761993	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:53761993G>T	ENST00000341702.3	+	1	449	c.365G>T	c.(364-366)aGa>aTa	p.R122I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	122					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.R122I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TACAAGCCAAGATCCACAGAT	0.418																																							uc002qbi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(364-366)AGA>ATA		vomeronasal 1 receptor 2							83.0	88.0	87.0					19																	53761993		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53761993G>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.365G>T	19.37:g.53761993G>T	ENSP00000351244:p.Arg122Ile						p.R122I	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	449	+			122			Extracellular (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.365G>T	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418977	0.42918	.	.	ENSG00000196131	ENST00000341702	T	0.37411	1.2	2.94	-1.99	0.07457	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55800	0.1943	M	0.89601	3.045	0.09310	N	1	D	0.71674	0.998	D	0.72982	0.979	T	0.48917	-0.8992	9	0.87932	D	0	.	0.6021	0.00746	0.3317:0.17:0.3251:0.1732	.	122	Q8NFZ6	VN1R2_HUMAN	I	122	ENSP00000351244:R122I	ENSP00000351244:R122I	R	+	2	0	VN1R2	58453805	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.262000	0.18460	-0.250000	0.09555	-0.234000	0.12200	AGA		0.418	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		25	60	1	0	3.7963e-18	0.00333	6.43867e-18	25	60				
NLRP12	91662	broad.mit.edu	37	19	54314336	54314336	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:54314336G>A	ENST00000324134.6	-	3	745	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	NLRP12_ENST00000345770.5_Missense_Mutation_p.P193S|NLRP12_ENST00000354278.3_Missense_Mutation_p.P193S|NLRP12_ENST00000391772.1_Missense_Mutation_p.P193S|NLRP12_ENST00000351894.4_Missense_Mutation_p.P193S|NLRP12_ENST00000535162.1_Missense_Mutation_p.P193S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P193S|NLRP12_ENST00000391775.3_Missense_Mutation_p.P193S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.P193S(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTTGATGGGGCTAGCCTGG	0.642																																							uc002qch.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(577-579)CCC>TCC		NLR family, pyrin domain containing 12 isoform							102.0	81.0	88.0					19																	54314336		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314336G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.577C>T	19.37:g.54314336G>A	ENSP00000319377:p.Pro193Ser					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.P193S|NLRP12_uc002qcj.3_Missense_Mutation_p.P193S|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.P193S	p.P193S	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	797	-	Ovarian(34;0.19)		193					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.577C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	5.061	0.196924	0.09599	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	4.25	3.2	0.36748	.	0.354627	0.20464	N	0.091832	D	0.84759	0.5543	N	0.25890	0.77	0.80722	D	1	D;P;P;P	0.54397	0.966;0.671;0.791;0.722	P;B;B;B	0.49012	0.598;0.328;0.419;0.404	T	0.78917	-0.2015	10	0.20519	T	0.43	.	7.1162	0.25418	0.2108:0.0:0.7892:0.0	.	193;193;193;193	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	S	193	ENSP00000319377:P193S;ENSP00000438030:P193S;ENSP00000340473:P193S;ENSP00000346231:P193S;ENSP00000375655:P193S;ENSP00000375653:P193S;ENSP00000375652:P193S	ENSP00000319377:P193S	P	-	1	0	NLRP12	59006148	1.000000	0.71417	0.943000	0.38184	0.222000	0.24845	1.240000	0.32731	0.931000	0.37242	0.306000	0.20318	CCC		0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		6	72	0	0	0	0.001168	0	6	72				
CACNG6	59285	broad.mit.edu	37	19	54502988	54502988	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:54502988C>A	ENST00000252729.2	+	3	1097	c.507C>A	c.(505-507)ttC>ttA	p.F169L	CACNG6_ENST00000346968.2_Intron|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	169					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.F169L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GTGCAGAGTTCCTGCTCCGAG	0.582																																							uc002qct.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(505-507)TTC>TTA		voltage-dependent calcium channel gamma-6							205.0	175.0	185.0					19																	54502988		2203	4300	6503	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54502988C>A	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.507C>A	19.37:g.54502988C>A	ENSP00000252729:p.Phe169Leu					CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron	p.F169L	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	3	1097	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		169			Helical; (Potential).			Missense_Mutation	SNP	ENST00000252729.2	37	c.507C>A	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	17.38	3.375579	0.61735	.	.	ENSG00000130433	ENST00000252729	T	0.67698	-0.28	4.92	3.89	0.44902	.	0.124592	0.53938	D	0.000046	T	0.61426	0.2346	L	0.51422	1.61	0.80722	D	1	P	0.38711	0.643	B	0.42188	0.379	T	0.59118	-0.7514	10	0.36615	T	0.2	-10.1141	9.368	0.38237	0.0:0.9008:0.0:0.0992	.	169	Q9BXT2	CCG6_HUMAN	L	169	ENSP00000252729:F169L	ENSP00000252729:F169L	F	+	3	2	CACNG6	59194800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.482000	0.35486	1.210000	0.43336	0.561000	0.74099	TTC		0.582	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			68	137	1	0	8.73484e-25	0.00361	1.56415e-24	68	137				
LILRA2	11027	broad.mit.edu	37	19	55098788	55098788	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55098788G>T	ENST00000251377.3	+	9	1560	c.1427G>T	c.(1426-1428)aGc>aTc	p.S476I	LILRA2_ENST00000251376.3_Missense_Mutation_p.S459I|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S447I|LILRA2_ENST00000391738.3_Missense_Mutation_p.S476I|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|CTB-83J4.2_ENST00000596330.1_lincRNA			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	476					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S459I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGCCAGAGAAGCCTACAAGAT	0.567																																							uc002qgg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1426-1428)AGC>ATC		leukocyte immunoglobulin-like receptor,							82.0	72.0	75.0					19																	55098788		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55098788G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1427G>T	19.37:g.55098788G>T	ENSP00000251377:p.Ser476Ile					LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Missense_Mutation_p.S459I|LILRA2_uc010ero.2_Missense_Mutation_p.S447I|LILRA2_uc010yfg.1_Intron	p.S476I	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	8	1516	+			476			Cytoplasmic (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.1427G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344892	0.41498	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00522	6.97;6.97;6.9;6.84	2.74	1.67	0.24075	.	4.032680	0.01078	U	0.004931	T	0.01189	0.0039	M	0.65975	2.015	0.09310	N	1	D;P;D	0.62365	0.976;0.944;0.991	P;B;P	0.56514	0.564;0.439;0.8	T	0.45877	-0.9231	10	0.56958	D	0.05	.	5.4698	0.16664	0.1696:0.0:0.8304:0.0	.	447;476;459	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	I	476;476;459;447	ENSP00000251377:S476I;ENSP00000375618:S476I;ENSP00000251376:S459I;ENSP00000375617:S447I	ENSP00000251376:S459I	S	+	2	0	LILRA2	59790600	0.013000	0.17824	0.010000	0.14722	0.092000	0.18411	2.810000	0.47979	0.471000	0.27319	0.609000	0.83330	AGC		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			19	26	1	0	2.35188e-11	0.006122	3.51982e-11	19	26				
KIR3DL1	3811	broad.mit.edu	37	19	55282321	55282321	+	Intron	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55282321G>T	ENST00000538269.1	+	1	61				KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A19S|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19S|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.A19S(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCTGCAGGGGGCCTGGCCACA	0.562																																						GBM(72;624 1217 3963 34152 38303)	uc002qhb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(55-57)GCC>TCC		killer cell immunoglobulin-like receptor, two							68.0	56.0	60.0					19																	55282321		1508	2879	4387	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55282321G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+46286G>T	19.37:g.55282321G>T						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.A19S	p.A19S	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	93	+			19					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.55G>T		.	.	.	.	.	.	.	.	.	.	G	1.477	-0.558190	0.03967	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00472	7.23;7.19	0.704	-0.819	0.10829	.	.	.	.	.	T	0.00384	0.0012	M	0.75447	2.3	0.09310	N	1	B;B	0.14012	0.008;0.009	B;B	0.13407	0.005;0.009	T	0.51980	-0.8636	9	0.02654	T	1	.	4.11	0.10055	0.7308:0.0:0.2692:0.0	.	19;19	Q6IST4;Q6H2H3	.;.	S	19	ENSP00000336769:A19S;ENSP00000291633:A19S	ENSP00000291633:A19S	A	+	1	0	KIR2DL1	59974133	0.006000	0.16342	0.002000	0.10522	0.001000	0.01503	0.873000	0.28052	-0.279000	0.09167	-0.507000	0.04495	GCC		0.562	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		73	116	1	0	2.01602e-52	0.00361	3.84718e-52	73	116				
KIR3DL1	3811	broad.mit.edu	37	19	55325168	55325168	+	Intron	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55325168C>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396284.2_Missense_Mutation_p.P299T|KIR3DL1_ENST00000391728.4_5'Flank|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.P227T|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.P132T|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.P244T|KIR2DL4_ENST00000359085.4_3'UTR|KIR3DL1_ENST00000358178.4_5'Flank|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000326542.7_5'Flank|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.P149T			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P244T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GAACCAAGAGCCTGCGGGACA	0.493																																							uc010yfm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)CCT>ACT		killer cell immunoglobulin-like receptor, two							51.0	65.0	60.0					19																	55325168		2142	4131	6273	SO:0001627	intron_variant	3805				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity	g.chr19:55325168C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-3821C>A	19.37:g.55325168C>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.P296T|KIR2DL4_uc002qhg.2_Missense_Mutation_p.P244T|KIR2DL4_uc002qhi.2_3'UTR|KIR2DL4_uc002qhh.2_Missense_Mutation_p.P149T|KIR2DL4_uc002qhj.2_Missense_Mutation_p.P227T|KIR2DL4_uc002qhf.2_Missense_Mutation_p.P132T|KIR2DL4_uc010esd.2_Intron|KIR2DL4_uc010ese.2_RNA|KIR3DL1_uc010yfn.1_5'Flank|KIR3DL1_uc010esf.2_5'Flank|KIR3DL1_uc002qhk.3_5'Flank|KIR3DL1_uc010yfo.1_5'Flank|KIR3DL1_uc002qhl.3_5'Flank	p.P279T	NM_002255	NP_002246	Q99706	KI2L4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	875	+			279		Missing (in allele KIR2DL4*0501).	Cytoplasmic (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.835C>A		.	.	.	.	.	.	.	.	.	.	C	10.47	1.359769	0.24598	.	.	ENSG00000189013	ENST00000396284;ENST00000345540;ENST00000357494;ENST00000396293;ENST00000346587;ENST00000396289	T;T;T;T;T;T	0.00534	7.04;6.91;6.79;6.74;6.87;7.05	0.842	0.842	0.18927	.	.	.	.	.	T	0.01353	0.0044	.	.	.	0.09310	N	1	D;D;D;P;D;P	0.89917	1.0;0.996;0.958;0.762;0.996;0.617	D;P;P;B;D;B	0.91635	0.999;0.885;0.835;0.42;0.939;0.279	T	0.51196	-0.8736	8	0.87932	D	0	.	5.0388	0.14449	0.0:1.0:0.0:0.0	.	279;299;227;149;244;132	Q99706;E7EST5;Q99706-4;Q8N736;Q99706-3;Q8N738	KI2L4_HUMAN;.;.;.;.;.	T	299;244;227;132;149;299	ENSP00000379580:P299T;ENSP00000339634:P244T;ENSP00000350088:P227T;ENSP00000379588:P132T;ENSP00000345331:P149T;ENSP00000379584:P299T	ENSP00000339634:P244T	P	+	1	0	KIR2DL4	60016980	0.118000	0.22208	0.004000	0.12327	0.084000	0.17831	0.580000	0.23803	0.743000	0.32719	0.184000	0.17185	CCT		0.493	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		31	43	1	0	9.73076e-26	0.006999	1.75678e-25	31	43				
KIR3DL1	3811	broad.mit.edu	37	19	55331374	55331374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55331374G>T	ENST00000391728.4	+	4	595	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A188S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A188S|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A188S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A93S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A188S	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	188	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.A188S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CATGATGCTTGCCCTTGCAGG	0.552																																							uc002qhk.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(562-564)GCC>TCC		killer cell immunoglobulin-like receptor, three							268.0	227.0	241.0					19																	55331374		2186	4161	6347	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55331374G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.562G>T	19.37:g.55331374G>T	ENSP00000375608:p.Ala188Ser					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.A130S|KIR3DL1_uc010esf.2_Missense_Mutation_p.A93S|KIR3DL1_uc010yfo.1_Missense_Mutation_p.A130S|KIR3DL1_uc002qhl.3_Missense_Mutation_p.A188S	p.A188S	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	625	+			188			Extracellular (Potential).|Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.562G>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.688	-0.795681	0.02862	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15;4.15	1.44	-2.88	0.05682	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.005480	0.03670	U	0.243885	T	0.03608	0.0103	L	0.37850	1.14	0.09310	N	1	B;B;B;B	0.18610	0.004;0.02;0.029;0.001	B;B;B;B	0.36244	0.036;0.197;0.22;0.01	T	0.46331	-0.9199	10	0.25751	T	0.34	.	2.2934	0.04144	0.3291:0.0:0.2639:0.407	.	188;93;188;188	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	S	188;188;188;166;188;188;93	ENSP00000384528:A188S;ENSP00000443350:A188S;ENSP00000442355:A188S;ENSP00000375608:A188S;ENSP00000326868:A188S;ENSP00000350901:A93S	ENSP00000326868:A188S	A	+	1	0	KIR3DL1	60023186	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.020000	0.03618	-1.753000	0.01323	-1.207000	0.01640	GCC		0.552	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		119	273	1	0	7.7863e-71	0.00361	1.48955e-70	119	273				
DNAAF3	352909	broad.mit.edu	37	19	55670618	55670618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:55670618C>A	ENST00000524407.2	-	12	1471	c.1438G>T	c.(1438-1440)Gcc>Tcc	p.A480S	CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G141V|TNNI3_ENST00000344887.5_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000588882.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A426S|DNAAF3_ENST00000527223.2_Missense_Mutation_p.A547S|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A527S			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	480					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.A527S(1)									AGAGGCTGGGCCAGGATGTCA	0.632																																							uc002qji.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1438-1440)GCC>TCC		RecName: Full=UPF0470 protein C19orf51;							26.0	31.0	29.0					19																	55670618		1960	4140	6100	SO:0001583	missense	352909							g.chr19:55670618C>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1438G>T	19.37:g.55670618C>A	ENSP00000432046:p.Ala480Ser					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.A295S|C19orf51_uc002qjj.1_Missense_Mutation_p.A527S|C19orf51_uc002qjk.1_Missense_Mutation_p.A426S|C19orf51_uc002qjl.1_Missense_Mutation_p.A547S	p.A480S			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1472	-			480					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1438G>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	c	9.888	1.203468	0.22121	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.18338	2.26;2.22	3.65	0.3	0.15776	.	0.687287	0.12023	N	0.506751	T	0.13072	0.0317	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.007;0.007	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.27905	-1.0060	10	0.37606	T	0.19	-0.8388	4.5545	0.12130	0.1981:0.5959:0.0:0.206	.	547;426;500;480	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	S	547;426;527	ENSP00000394343:A426S;ENSP00000375600:A527S	ENSP00000301249:A547S	A	-	1	0	C19orf51	60362430	0.001000	0.12720	0.000000	0.03702	0.162000	0.22319	0.288000	0.18939	0.138000	0.18790	0.556000	0.70494	GCC		0.632	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		7	21	1	0	5.4927e-09	0.004482	7.63426e-09	7	21				
NLRP4	147945	broad.mit.edu	37	19	56370569	56370569	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:56370569T>C	ENST00000301295.6	+	3	2232	c.1810T>C	c.(1810-1812)Ttt>Ctt	p.F604L	NLRP4_ENST00000587891.1_Missense_Mutation_p.F529L|NLRP4_ENST00000346986.5_Missense_Mutation_p.F604L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	604					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.F604L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAACTCTGTTTTTCCGTTCA	0.408																																							uc002qmd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1810-1812)TTT>CTT		NLR family, pyrin domain containing 4							70.0	65.0	66.0					19																	56370569		2203	4299	6502	SO:0001583	missense	147945						ATP binding	g.chr19:56370569T>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1810T>C	19.37:g.56370569T>C	ENSP00000301295:p.Phe604Leu					NLRP4_uc002qmf.2_Missense_Mutation_p.F529L|NLRP4_uc010etf.2_Missense_Mutation_p.F435L	p.F604L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	2232	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	604					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1810T>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	0.111	-1.137815	0.01742	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.81821	-1.54;-1.54	3.23	-6.19	0.02078	.	.	.	.	.	T	0.46560	0.1399	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.15930	0.003;0.015;0.009	B;B;B	0.14578	0.004;0.011;0.004	T	0.49762	-0.8905	9	0.02654	T	1	.	8.3262	0.32158	0.0:0.5803:0.143:0.2768	.	604;529;604	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	L	604	ENSP00000301295:F604L;ENSP00000344787:F604L	ENSP00000301295:F604L	F	+	1	0	NLRP4	61062381	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.734000	0.00380	-1.853000	0.01165	0.482000	0.46254	TTT		0.408	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		17	67	0	0	0	0.006122	0	17	67				
NLRP13	126204	broad.mit.edu	37	19	56424587	56424587	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:56424587T>A	ENST00000342929.3	-	5	595	c.596A>T	c.(595-597)aAa>aTa	p.K199I	NLRP13_ENST00000588751.1_Missense_Mutation_p.K199I	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	199							ATP binding (GO:0005524)	p.K199I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACGTGGTCTTTAGGCCAACT	0.483																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(595-597)AAA>ATA		NACHT, leucine rich repeat and PYD containing							168.0	180.0	176.0					19																	56424587		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424587T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.596A>T	19.37:g.56424587T>A	ENSP00000343891:p.Lys199Ile						p.K199I	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	621	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	199					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.596A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	8.669	0.902486	0.17760	.	.	ENSG00000173572	ENST00000342929	T	0.74106	-0.81	2.12	1.09	0.20402	.	.	.	.	.	T	0.48502	0.1503	N	0.14661	0.345	0.09310	N	1	P	0.47484	0.896	B	0.35607	0.206	T	0.41502	-0.9505	9	0.44086	T	0.13	.	3.8796	0.09072	0.0:0.189:0.0:0.811	.	199	Q86W25	NAL13_HUMAN	I	199	ENSP00000343891:K199I	ENSP00000343891:K199I	K	-	2	0	NLRP13	61116399	0.004000	0.15560	0.006000	0.13384	0.002000	0.02628	0.846000	0.27682	0.297000	0.22615	-0.361000	0.07541	AAA		0.483	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		64	125	0	0	0	0.00361	0	64	125				
AURKC	6795	broad.mit.edu	37	19	57744004	57744004	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:57744004G>A	ENST00000302804.7	+	4	577	c.391G>A	c.(391-393)Gag>Aag	p.E131K	AURKC_ENST00000448930.1_Missense_Mutation_p.E97K|AURKC_ENST00000598785.1_Missense_Mutation_p.E97K|AURKC_ENST00000415300.2_Missense_Mutation_p.E112K|AURKC_ENST00000599062.1_Missense_Mutation_p.E128K	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E131K(1)|p.E97K(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GCTCTACAAGGAGCTGCAGAA	0.537																																							uc002qoe.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)	6						c.(391-393)GAG>AAG		aurora kinase C isoform 1							85.0	80.0	82.0					19																	57744004		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57744004G>A		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.391G>A	19.37:g.57744004G>A	ENSP00000302898:p.Glu131Lys					AURKC_uc002qoc.2_Missense_Mutation_p.E112K|AURKC_uc002qod.2_Missense_Mutation_p.E97K|AURKC_uc010etv.2_Missense_Mutation_p.E128K	p.E131K	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	4	580	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	131			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.391G>A	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087390	0.20390	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.64618	-0.11;-0.11;-0.11	3.8	0.375	0.16188	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.228630	0.43579	D	0.000556	T	0.28632	0.0709	N	0.01297	-0.9	0.35643	D	0.811162	B;B;B	0.14012	0.009;0.009;0.004	B;B;B	0.23419	0.046;0.024;0.017	T	0.08310	-1.0728	10	0.49607	T	0.09	-12.4437	6.045	0.19755	0.0948:0.0:0.5747:0.3305	.	128;131;112	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	K	112;97;131	ENSP00000407162:E112K;ENSP00000406798:E97K;ENSP00000302898:E131K	ENSP00000302898:E131K	E	+	1	0	AURKC	62435816	1.000000	0.71417	0.970000	0.41538	0.212000	0.24457	5.077000	0.64419	0.188000	0.20168	-0.266000	0.10368	GAG		0.537	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		6	66	0	0	0	0.001168	0	6	66				
ZNF587	84914	broad.mit.edu	37	19	58370797	58370797	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:58370797C>T	ENST00000339656.5	+	3	1199	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L338L|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L296L|ZNF814_ENST00000595295.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	339					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.L339L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGGGTAACCTCATTCAACATC	0.453																																					Pancreas(59;641 1233 1885 20055 50741)	Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1015-1017)CTC>CTT		zinc finger protein 587							106.0	137.0	126.0					19																	58370797		2202	4300	6502	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370797C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1017C>T	19.37:g.58370797C>T						ZNF587_uc002qqb.2_Silent_p.L296L|ZNF587_uc010yhh.1_Silent_p.L296L|ZNF587_uc002qqi.1_Silent_p.L296L|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.L338L	p.L339L	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1155	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	339			C2H2-type 5.		A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.1017C>T	CCDS12964.1																																																																																				0.453	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		63	144	0	0	0	0.00361	0	63	144				
ZNF814	730051	broad.mit.edu	37	19	58384403	58384403	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:58384403G>A	ENST00000435989.2	-	3	2589	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	785					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S785S(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTGTGAAACTGGAGCTTTCAG	0.408																																							uc002qqo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2353-2355)TCC>TCT		zinc finger protein 814							75.0	63.0	67.0					19																	58384403		692	1591	2283	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384403G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2355C>T	19.37:g.58384403G>A						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S785S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	2627	-			785			C2H2-type 21.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.2355C>T	CCDS46212.1																																																																																				0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		11	23	0	0	0	0.000978	0	11	23				
TPO	7173	broad.mit.edu	37	2	1459997	1459997	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:1459997G>T	ENST00000345913.4	+	7	853	c.762G>T	c.(760-762)ggG>ggT	p.G254G	TPO_ENST00000337415.3_Silent_p.G254G|TPO_ENST00000349624.3_Silent_p.G254G|TPO_ENST00000329066.4_Silent_p.G254G|TPO_ENST00000382201.3_Silent_p.G254G|TPO_ENST00000382198.1_Silent_p.G254G|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.G254G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	254					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.G254G(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCCTTCGGGGGAGGGGCTG	0.473																																							uc002qww.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(760-762)GGG>GGT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						79.0	70.0	73.0					2																	1459997		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459997G>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.762G>T	2.37:g.1459997G>T						TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.G254G|TPO_uc002qwr.2_Silent_p.G254G|TPO_uc002qwx.2_Silent_p.G254G|TPO_uc010yio.1_Silent_p.G254G|TPO_uc010yip.1_Silent_p.G254G	p.G254G	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	853	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	254			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.762G>T	CCDS1643.1																																																																																				0.473	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		5	30	1	0	1.23904e-05	0.000602	1.49305e-05	5	30				
TSSC1	7260	broad.mit.edu	37	2	3341795	3341795	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:3341795G>A	ENST00000382125.4	-	3	444	c.252C>T	c.(250-252)taC>taT	p.Y84Y	TSSC1_ENST00000443925.2_Silent_p.Y84Y|TSSC1_ENST00000398659.4_Silent_p.Y84Y	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	84								p.Y84Y(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TACTTCTGTTGTAGCAGGTCG	0.443																																					Colon(140;1261 1762 4183 34270 49743)	Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(250-252)TAC>TAT		tumor suppressing subtransferable candidate 1							143.0	127.0	132.0					2																	3341795		2203	4300	6503	SO:0001819	synonymous_variant	7260						protein binding	g.chr2:3341795G>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.252C>T	2.37:g.3341795G>A							p.Y84Y	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	3	445	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	84					D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	c.252C>T	CCDS1651.1																																																																																				0.443	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		10	108	0	0	0	0.008291	0	10	108				
ADI1	55256	broad.mit.edu	37	2	3504654	3504654	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:3504654G>A	ENST00000327435.6	-	3	599	c.351C>T	c.(349-351)atC>atT	p.I117I	ADI1_ENST00000382093.5_Silent_p.I111I	NM_018269.3	NP_060739.2			acireductone dioxygenase 1									p.I117I(1)		breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		TCTCCATGAAGATCCGGATCC	0.582																																							uc002qxp.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(349-351)ATC>ATT		acireductone dioxygenase 1							234.0	175.0	195.0					2																	3504654		2203	4300	6503	SO:0001819	synonymous_variant	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3504654G>A		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.351C>T	2.37:g.3504654G>A						ADI1_uc010yiq.1_RNA	p.I117I	NM_018269	NP_060739	Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	3	443	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		117						Silent	SNP	ENST00000327435.6	37	c.351C>T	CCDS1653.1																																																																																				0.582	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		7	39	0	0	0	0.006214	0	7	39				
NOL10	79954	broad.mit.edu	37	2	10729817	10729817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:10729817G>A	ENST00000381685.5	-	18	1588	c.1483C>T	c.(1483-1485)Caa>Taa	p.Q495*	NOL10_ENST00000542668.1_Nonsense_Mutation_p.Q445*|NOL10_ENST00000538384.1_Nonsense_Mutation_p.Q469*|NOL10_ENST00000345985.3_Nonsense_Mutation_p.Q445*|AC092687.5_ENST00000414538.1_RNA	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	495						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q445*(1)				Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCATCTACTTGGAAGTCAGGG	0.328																																							uc002raq.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1483-1485)CAA>TAA		nucleolar protein 10							50.0	45.0	47.0					2																	10729817		2201	4296	6497	SO:0001587	stop_gained	79954					nucleolus		g.chr2:10729817G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1483C>T	2.37:g.10729817G>A	ENSP00000371101:p.Gln495*					NOL10_uc010yje.1_Nonsense_Mutation_p.Q469*|NOL10_uc010yjf.1_Nonsense_Mutation_p.Q445*|NOL10_uc002rap.2_Nonsense_Mutation_p.Q445*	p.Q495*	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	18	1608	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		495					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Nonsense_Mutation	SNP	ENST00000381685.5	37	c.1483C>T	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	40	8.437397	0.98810	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	.	.	.	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-13.6782	15.41	0.74911	0.0663:0.0:0.9337:0.0	.	.	.	.	X	445;495;445;469	.	ENSP00000263837:Q445X	Q	-	1	0	NOL10	10647268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.577000	0.49804	0.563000	0.77884	CAA		0.328	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		4	9	0	0	0	0.009096	0	4	9				
NBAS	51594	broad.mit.edu	37	2	15615813	15615813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:15615813C>A	ENST00000281513.5	-	14	1364	c.1339G>T	c.(1339-1341)Gag>Tag	p.E447*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.E447*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	447					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E447*(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCCTTACCTCCAAACTTAAA	0.318																																							uc002rcc.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(1339-1341)GAG>TAG		neuroblastoma-amplified protein							65.0	66.0	66.0					2																	15615813		2203	4300	6503	SO:0001587	stop_gained	51594							g.chr2:15615813C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1339G>T	2.37:g.15615813C>A	ENSP00000281513:p.Glu447*					NBAS_uc002rcd.1_RNA	p.E447*	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			14	1365	-			447					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	37	c.1339G>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	39	7.719663	0.98453	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	.	.	.	5.86	5.86	0.93980	.	0.103242	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1747	0.98176	0.0:1.0:0.0:0.0	.	.	.	.	X	447	.	ENSP00000281513:E447X	E	-	1	0	NBAS	15533264	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.783000	0.85696	2.775000	0.95449	0.561000	0.74099	GAG		0.318	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		4	26	1	0	0.00909568	0.009096	0.00983662	4	26				
FAM49A	81553	broad.mit.edu	37	2	16745340	16745340	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:16745340A>G	ENST00000381323.3	-	5	435	c.215T>C	c.(214-216)aTt>aCt	p.I72T	FAM49A_ENST00000355549.2_Missense_Mutation_p.I72T|FAM49A_ENST00000406434.1_Missense_Mutation_p.I72T	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	72						intracellular (GO:0005622)		p.I72T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTGAAGCTGAATGTCATTGGG	0.378																																							uc010exm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(214-216)ATT>ACT		family with sequence similarity 49, member A							105.0	98.0	101.0					2																	16745340		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16745340A>G	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.215T>C	2.37:g.16745340A>G	ENSP00000370724:p.Ile72Thr					FAM49A_uc002rck.1_Missense_Mutation_p.I72T	p.I72T	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		4	363	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		72					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.215T>C	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.485570	0.44147	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549;ENST00000445605;ENST00000451689	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.75	4.58	0.56647	.	0.189699	0.56097	D	0.000031	T	0.19248	0.0462	N	0.02539	-0.55	0.48762	D	0.999701	B	0.20052	0.041	B	0.25987	0.065	T	0.06481	-1.0824	10	0.15952	T	0.53	-24.2059	11.7079	0.51607	0.8675:0.0:0.0:0.1325	.	72	Q9H0Q0	FA49A_HUMAN	T	72	ENSP00000370724:I72T;ENSP00000384771:I72T;ENSP00000347744:I72T;ENSP00000392154:I72T;ENSP00000388979:I72T	ENSP00000347744:I72T	I	-	2	0	FAM49A	16608821	1.000000	0.71417	0.915000	0.36163	0.657000	0.38888	6.014000	0.70784	1.094000	0.41399	0.533000	0.62120	ATT		0.378	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		5	45	0	0	0	0.000602	0	5	45				
APOB	338	broad.mit.edu	37	2	21246498	21246498	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:21246498C>G	ENST00000233242.1	-	17	2630	c.2503G>C	c.(2503-2505)Gcc>Ccc	p.A835P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	835					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A835P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCAAAGGCATTCTCCATG	0.448																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2503-2505)GCC>CCC		apolipoprotein B precursor	Atorvastatin(DB01076)						93.0	86.0	88.0					2																	21246498		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21246498C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2503G>C	2.37:g.21246498C>G	ENSP00000233242:p.Ala835Pro						p.A835P	NM_000384	NP_000375	P04114	APOB_HUMAN			17	2631	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		835					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2503G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789626	0.50102	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14144	2.53	5.35	3.18	0.36537	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.323717	0.26481	N	0.024140	T	0.26666	0.0652	M	0.70595	2.14	0.80722	D	1	D	0.54397	0.966	P	0.55303	0.773	T	0.02484	-1.1152	10	0.44086	T	0.13	.	11.1132	0.48246	0.0:0.8065:0.0:0.1935	.	835	P04114	APOB_HUMAN	P	835	ENSP00000233242:A835P	ENSP00000233242:A835P	A	-	1	0	APOB	21100003	0.815000	0.29118	0.998000	0.56505	0.372000	0.29890	1.062000	0.30555	1.403000	0.46800	0.655000	0.94253	GCC		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	40	0	0	0	0.004482	0	9	40				
UBXN2A	165324	broad.mit.edu	37	2	24205850	24205850	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:24205850G>T	ENST00000309033.4	+	5	616	c.372G>T	c.(370-372)ttG>ttT	p.L124F	UBXN2A_ENST00000535786.1_Missense_Mutation_p.L124F|UBXN2A_ENST00000404924.1_Missense_Mutation_p.L124F|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	124	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)		p.L124F(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AAATATGTTTGTCTACGAAGC	0.373																																							uc010exy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(370-372)TTG>TTT		UBX domain containing 4							106.0	111.0	110.0					2																	24205850		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24205850G>T	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.372G>T	2.37:g.24205850G>T	ENSP00000312107:p.Leu124Phe					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.L124F|UBXN2A_uc010ykj.1_Missense_Mutation_p.L124F	p.L124F	NM_181713	NP_859064	P68543	UBX2A_HUMAN			6	840	+			124			SEP.		A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.372G>T	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942005	0.34283	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.45668	0.95;0.95;0.89	5.13	4.24	0.50183	SEP domain (4);	1.116970	0.06509	N	0.737742	T	0.39708	0.1088	L	0.53249	1.67	0.09310	N	0.999999	P;B	0.38335	0.627;0.371	B;B	0.37650	0.255;0.128	T	0.40553	-0.9557	10	0.66056	D	0.02	-13.6996	4.4029	0.11395	0.0839:0.1573:0.5957:0.163	.	124;124	B7ZKP8;P68543	.;UBX2A_HUMAN	F	124	ENSP00000385525:L124F;ENSP00000312107:L124F;ENSP00000440533:L124F	ENSP00000312107:L124F	L	+	3	2	UBXN2A	24059354	0.172000	0.23043	0.495000	0.27527	0.857000	0.48899	1.422000	0.34826	1.282000	0.44496	-0.300000	0.09419	TTG		0.373	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		10	67	1	0	0.00621372	0.006214	0.00674832	10	67				
PPM1G	5496	broad.mit.edu	37	2	27607565	27607565	+	Missense_Mutation	SNP	G	G	A	rs150808424		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:27607565G>A	ENST00000344034.4	-	5	1064	c.800C>T	c.(799-801)gCg>gTg	p.A267V	PPM1G_ENST00000350803.4_Missense_Mutation_p.A267V	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	267	Asp/Glu-rich (acidic).|Poly-Glu.				cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.A267V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCTTCCTCCGCCTCATCTGA	0.537																																							uc002rkl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)GCG>GTG		protein phosphatase 1G		G	VAL/ALA	0,4406		0,0,2203	124.0	115.0	118.0		800	3.6	1.0	2	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPM1G	NM_177983.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	267/547	27607565	1,13005	2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27607565G>A	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.800C>T	2.37:g.27607565G>A	ENSP00000342778:p.Ala267Val					PPM1G_uc002rkm.2_Missense_Mutation_p.A48V	p.A267V	NM_002707	NP_002698	O15355	PPM1G_HUMAN			6	907	-	Acute lymphoblastic leukemia(172;0.155)		267			Asp/Glu-rich (acidic).|Poly-Glu.			Missense_Mutation	SNP	ENST00000344034.4	37	c.800C>T	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530276	0.27387	0.0	1.16E-4	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.46063	0.88;0.88	5.43	3.59	0.41128	Protein phosphatase 2C-like (3);	2.222500	0.01681	N	0.026155	T	0.32526	0.0832	N	0.22421	0.69	0.23215	N	0.998108	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.001	T	0.18524	-1.0334	10	0.25751	T	0.34	-2.527	7.0768	0.25209	0.1603:0.1449:0.6948:0.0	.	68;267	Q59GB2;O15355	.;PPM1G_HUMAN	V	267;267;250;68	ENSP00000342778:A267V;ENSP00000264714:A267V	ENSP00000342778:A267V	A	-	2	0	PPM1G	27461069	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.968000	0.49224	0.629000	0.30376	0.655000	0.94253	GCG		0.537	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		20	145	0	0	0	0.008871	0	20	145				
GPN1	11321	broad.mit.edu	37	2	27857779	27857779	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:27857779C>A	ENST00000610189.1	+	6	424	c.417C>A	c.(415-417)atC>atA	p.I139I	GPN1_ENST00000264718.3_Silent_p.I153I|GPN1_ENST00000458167.2_Silent_p.I44I|GPN1_ENST00000461249.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000503738.1_Silent_p.I44I|GPN1_ENST00000515877.1_Silent_p.I60I|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000407583.3_Silent_p.I127I|GPN1_ENST00000424214.1_Silent_p.I60I	NM_007266.3	NP_009197.2			GPN-loop GTPase 1									p.I139I(2)		endometrium(1)|large_intestine(1)|lung(12)	14						GGACAATTATCACTGAAGCCC	0.403																																							uc010ymc.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(457-459)ATC>ATA		GPN-loop GTPase 1 isoform a							163.0	150.0	154.0					2																	27857779		2203	4300	6503	SO:0001819	synonymous_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27857779C>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.417C>A	2.37:g.27857779C>A						ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.I127I|GPN1_uc010yma.1_Silent_p.I60I|GPN1_uc010ymb.1_Silent_p.I44I|GPN1_uc010ymd.1_Silent_p.I34I|GPN1_uc010yme.1_Silent_p.I153I|GPN1_uc010ezg.1_Silent_p.I34I	p.I153I	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			6	480	+			139						Silent	SNP	ENST00000610189.1	37	c.459C>A																																																																																					0.403	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		14	55	1	0	1.49906e-05	0.00245	1.79654e-05	14	55				
ALK	238	broad.mit.edu	37	2	29446262	29446262	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:29446262G>A	ENST00000389048.3	-	20	4211	c.3305C>T	c.(3304-3306)aCc>aTc	p.T1102I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1102					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T1102I(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GATGGAGGAGGTCTTGCCAGC	0.587			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(3304-3306)ACC>ATC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						152.0	121.0	132.0					2																	29446262		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29446262G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3305C>T	2.37:g.29446262G>A	ENSP00000373700:p.Thr1102Ile					ALK_uc010ymo.1_Missense_Mutation_p.T34I	p.T1102I	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			20	4212	-	Acute lymphoblastic leukemia(172;0.155)		1102			Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3305C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368767	0.42003	.	.	ENSG00000171094	ENST00000389048	D	0.89050	-2.46	4.65	3.77	0.43336	Protein kinase-like domain (1);	0.131543	0.33980	N	0.004366	T	0.78997	0.4372	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70085	-0.4969	9	.	.	.	.	9.499	0.39006	0.1617:0.0:0.8383:0.0	.	1102	Q9UM73	ALK_HUMAN	I	1102	ENSP00000373700:T1102I	.	T	-	2	0	ALK	29299766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.644000	0.67902	1.170000	0.42753	0.557000	0.71058	ACC		0.587	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		9	48	0	0	0	0.006214	0	9	48				
ALK	238	broad.mit.edu	37	2	29519836	29519836	+	Silent	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:29519836T>G	ENST00000389048.3	-	9	2641	c.1735A>C	c.(1735-1737)Agg>Cgg	p.R579R	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	579	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R579R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CAGACCATCCTGCCTTGCTCC	0.567			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1735-1737)AGG>CGG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						166.0	128.0	141.0					2																	29519836		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29519836T>G	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1735A>C	2.37:g.29519836T>G							p.R579R	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			9	2642	-	Acute lymphoblastic leukemia(172;0.155)		579			MAM 2.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1735A>C	CCDS33172.1																																																																																				0.567	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	35	0	0	0	0.000978	0	11	35				
LTBP1	4052	broad.mit.edu	37	2	33567972	33567972	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:33567972C>A	ENST00000404816.2	+	25	4151	c.3798C>A	c.(3796-3798)tcC>tcA	p.S1266S	LTBP1_ENST00000354476.3_Silent_p.S1267S|LTBP1_ENST00000390003.4_Silent_p.S941S|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000407925.1_Silent_p.S940S|LTBP1_ENST00000404525.1_Silent_p.S887S|LTBP1_ENST00000402934.1_Silent_p.S887S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1266	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.S1267S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGCTGGCTCCTTCCGCTGCC	0.448																																							uc002ros.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3799-3801)TCC>TCA		latent transforming growth factor beta binding							123.0	103.0	110.0					2																	33567972		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33567972C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3798C>A	2.37:g.33567972C>A						LTBP1_uc002rot.2_Silent_p.S941S|LTBP1_uc002rou.2_Silent_p.S940S|LTBP1_uc002rov.2_Silent_p.S887S|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	p.S1267S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			25	3801	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1266			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.3801C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172551	0.21704	.	.	ENSG00000049323	ENST00000415140	.	.	.	5.91	4.09	0.47781	.	.	.	.	.	T	0.61426	0.2346	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57458	-0.7808	4	.	.	.	.	10.4908	0.44750	0.1345:0.7958:0.0:0.0697	.	.	.	.	H	228	.	.	P	+	2	0	LTBP1	33421476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.410000	0.34691	0.810000	0.34279	0.557000	0.71058	CCT		0.448	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		10	48	1	0	2.17888e-05	0.006214	2.60114e-05	10	48				
SLC8A1	6546	broad.mit.edu	37	2	40655707	40655707	+	Missense_Mutation	SNP	C	C	A	rs151189284		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:40655707C>A	ENST00000403092.1	-	2	1747	c.1714G>T	c.(1714-1716)Gtt>Ttt	p.V572F	SLC8A1_ENST00000406391.2_Missense_Mutation_p.V572F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V572F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V572F|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V572F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V572F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V572F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V572F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	572	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V572F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTATATGGAACGATAACATTT	0.438																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1714-1716)GTT>TTT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						122.0	125.0	124.0					2																	40655707		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655707C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1714G>T	2.37:g.40655707C>A	ENSP00000384763:p.Val572Phe					SLC8A1_uc002rry.2_Missense_Mutation_p.V572F|SLC8A1_uc002rrz.2_Missense_Mutation_p.V572F|SLC8A1_uc002rsa.2_Missense_Mutation_p.V572F|SLC8A1_uc002rsd.3_Missense_Mutation_p.V572F|SLC8A1_uc002rsb.1_Missense_Mutation_p.V572F|SLC8A1_uc010fan.1_Missense_Mutation_p.V572F|SLC8A1_uc002rsc.1_Missense_Mutation_p.V572F	p.V572F	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1738	-			572			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1714G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014538	0.54468	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.87	4.06	0.47325	Na-Ca exchanger/integrin-beta4 (2);	0.120630	0.64402	D	0.000020	T	0.72875	0.3515	M	0.92507	3.315	0.58432	D	0.999999	D;B;P;P;P	0.56968	0.978;0.221;0.848;0.851;0.793	P;B;P;P;P	0.57960	0.822;0.13;0.653;0.821;0.83	T	0.77910	-0.2411	10	0.87932	D	0	.	10.563	0.45156	0.0:0.8527:0.0:0.1473	.	572;572;572;572;572	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	F	572	ENSP00000383886:V572F;ENSP00000440727:V572F;ENSP00000384763:V572F;ENSP00000385678:V572F;ENSP00000385188:V572F;ENSP00000385535:V572F;ENSP00000332931:V572F;ENSP00000384908:V572F;ENSP00000385811:V572F;ENSP00000443515:V572F	ENSP00000332931:V572F	V	-	1	0	SLC8A1	40509211	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.227000	0.51262	0.921000	0.36994	0.655000	0.94253	GTT		0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		28	110	1	0	7.38237e-10	0.00632	1.05855e-09	28	110				
SLC8A1	6546	broad.mit.edu	37	2	40656124	40656124	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:40656124C>A	ENST00000403092.1	-	2	1330	c.1297G>T	c.(1297-1299)Ggt>Tgt	p.G433C	SLC8A1_ENST00000406391.2_Missense_Mutation_p.G433C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G433C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G433C|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G433C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G433C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G433C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G433C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	433	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G433C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAATCACCACCTCTGCGGATA	0.433																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1297-1299)GGT>TGT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						98.0	85.0	90.0					2																	40656124		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656124C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1297G>T	2.37:g.40656124C>A	ENSP00000384763:p.Gly433Cys					SLC8A1_uc002rry.2_Missense_Mutation_p.G433C|SLC8A1_uc002rrz.2_Missense_Mutation_p.G433C|SLC8A1_uc002rsa.2_Missense_Mutation_p.G433C|SLC8A1_uc002rsd.3_Missense_Mutation_p.G433C|SLC8A1_uc002rsb.1_Missense_Mutation_p.G433C|SLC8A1_uc010fan.1_Missense_Mutation_p.G433C|SLC8A1_uc002rsc.1_Missense_Mutation_p.G433C	p.G433C	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1321	-			433			Calx-beta 1.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1297G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189775	0.57909	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	6.17	5.3	0.74995	Na-Ca exchanger/integrin-beta4 (2);	0.042102	0.85682	D	0.000000	T	0.75428	0.3848	H	0.97158	3.95	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.995;0.999;0.999;1.0	D	0.83837	0.0255	10	0.87932	D	0	.	13.3312	0.60488	0.0:0.9246:0.0:0.0754	.	433;433;433;433;433	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	C	433	ENSP00000383886:G433C;ENSP00000440727:G433C;ENSP00000384763:G433C;ENSP00000385678:G433C;ENSP00000385188:G433C;ENSP00000385535:G433C;ENSP00000332931:G433C;ENSP00000384908:G433C;ENSP00000385811:G433C;ENSP00000443515:G433C	ENSP00000332931:G433C	G	-	1	0	SLC8A1	40509628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.663000	0.83820	1.635000	0.50512	0.655000	0.94253	GGT		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		16	69	1	0	8.00594e-06	0.007413	9.79281e-06	16	69				
LHCGR	3973	broad.mit.edu	37	2	48925784	48925784	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:48925784C>A	ENST00000294954.7	-	9	857	c.836G>T	c.(835-837)tGc>tTc	p.C279F	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.C279F|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.C279F|LHCGR_ENST00000403273.1_Missense_Mutation_p.C279F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	279					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.C279F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAAGCACAGCAGTGGCTGGG	0.413																																							uc002rwu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(835-837)TGC>TTC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						102.0	101.0	102.0					2																	48925784		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48925784C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.836G>T	2.37:g.48925784C>A	ENSP00000294954:p.Cys279Phe					GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.C279F	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	906	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	279			Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.836G>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643562	0.87859	.	.	ENSG00000138039	ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	T;T;D;D	0.88277	-1.49;-1.29;-2.36;-2.08	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.93328	3.405	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.96279	0.9205	9	.	.	.	.	19.6125	0.95613	0.0:1.0:0.0:0.0	.	279	P22888	LSHR_HUMAN	F	279	ENSP00000294954:C279F;ENSP00000386033:C279F;ENSP00000385847:C279F;ENSP00000385406:C279F	.	C	-	2	0	LHCGR	48779288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.421000	0.80204	2.879000	0.98667	0.650000	0.86243	TGC		0.413	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		9	67	1	0	1.12685e-05	0.004482	1.36427e-05	9	67				
NRXN1	9378	broad.mit.edu	37	2	50463973	50463973	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:50463973C>A	ENST00000406316.2	-	18	4976	c.3500G>T	c.(3499-3501)cGa>cTa	p.R1167L	NRXN1_ENST00000404971.1_Missense_Mutation_p.R1207L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1167L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1159L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1167L|NRXN1_ENST00000401710.1_Missense_Mutation_p.R185L|NRXN1_ENST00000342183.5_Missense_Mutation_p.R132L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1159L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1167	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R1167L(1)|p.R132L(1)|p.R1207L(1)|p.R1208L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGTCCACTCGCACCAATAC	0.423																																							uc010fbp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(394-396)CGA>CTA		neurexin 1 isoform beta precursor							120.0	106.0	111.0					2																	50463973		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50463973C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3500G>T	2.37:g.50463973C>A	ENSP00000384311:p.Arg1167Leu					NRXN1_uc002rxb.3_Missense_Mutation_p.R839L|NRXN1_uc010fbq.2_Missense_Mutation_p.R1207L|NRXN1_uc002rxe.3_Missense_Mutation_p.R1167L|NRXN1_uc002rxc.1_RNA	p.R132L	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1202	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	132			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.395G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089394	0.76756	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.56097	U	0.000027	D	0.87557	0.6207	M	0.79475	2.455	0.53688	D	0.999971	D;D;P;P	0.60160	0.987;0.985;0.642;0.783	P;P;B;B	0.60236	0.849;0.871;0.206;0.31	D	0.88485	0.3071	10	0.87932	D	0	.	19.7969	0.96490	0.0:1.0:0.0:0.0	.	1207;132;1167;1159	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	L	132;86;185;1207;1167;1159;1167;1208;1159;1167	ENSP00000341184:R132L;ENSP00000385580:R185L;ENSP00000385142:R1207L;ENSP00000384311:R1167L;ENSP00000434015:R1159L;ENSP00000385017:R1167L;ENSP00000385434:R1159L;ENSP00000385681:R1167L	ENSP00000341184:R132L	R	-	2	0	NRXN1	50317477	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	7.653000	0.83643	2.679000	0.91253	0.650000	0.86243	CGA		0.423	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			15	37	1	0	7.07596e-05	0.006122	8.27409e-05	15	37				
PAPOLG	64895	broad.mit.edu	37	2	61010339	61010339	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:61010339A>G	ENST00000238714.3	+	13	1410	c.1161A>G	c.(1159-1161)ctA>ctG	p.L387L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	387					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L387L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAAACCATCTAGAGTGGTAAG	0.333																																					GBM(183;1497 2932 21839 46797)	GBM(183;1497 2932 21839 46797)	uc002sai.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1159-1161)CTA>CTG		poly(A) polymerase gamma							81.0	86.0	84.0					2																	61010339		2203	4300	6503	SO:0001819	synonymous_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61010339A>G	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1161A>G	2.37:g.61010339A>G						PAPOLG_uc002saj.2_Silent_p.L76L|PAPOLG_uc002sak.2_5'UTR|PAPOLG_uc010fch.2_Silent_p.L76L	p.L387L	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		13	1392	+	all_hematologic(2;0.0797)		387					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Silent	SNP	ENST00000238714.3	37	c.1161A>G	CCDS1863.1																																																																																				0.333	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		19	68	0	0	0	0.001882	0	19	68				
USP34	9736	broad.mit.edu	37	2	61605508	61605508	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:61605508C>G	ENST00000398571.2	-	8	1142	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	356					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D356H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTTCTGTGTCCGATACTAAT	0.249																																							uc002sbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(1066-1068)GAC>CAC		ubiquitin specific protease 34							71.0	70.0	70.0					2																	61605508		1813	4061	5874	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61605508C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1066G>C	2.37:g.61605508C>G	ENSP00000381577:p.Asp356His						p.D356H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		8	1088	-			356					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1066G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630099	0.67015	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.15017	2.46	5.52	5.52	0.82312	.	0.093691	0.64402	D	0.000001	T	0.30135	0.0755	N	0.22421	0.69	0.58432	D	0.999998	D	0.76494	0.999	D	0.77557	0.99	T	0.04870	-1.0921	10	0.66056	D	0.02	.	17.6032	0.88031	0.0:1.0:0.0:0.0	.	356	Q70CQ2	UBP34_HUMAN	H	204;204;356	ENSP00000381577:D356H	ENSP00000263989:D204H	D	-	1	0	USP34	61459012	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.601000	0.82783	2.591000	0.87537	0.591000	0.81541	GAC		0.249	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	62	0	0	0	0.001984	0	7	62				
FAM161A	84140	broad.mit.edu	37	2	62066780	62066780	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:62066780C>A	ENST00000405894.3	-	3	1460	c.1359G>T	c.(1357-1359)gtG>gtT	p.V453V	FAM161A_ENST00000404929.1_Silent_p.V453V	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	453					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.V453V(2)|p.V344V(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGTTTACACACTGTTAAGA	0.383																																							uc010ypo.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(1)	3						c.(1357-1359)GTG>GTT		hypothetical protein LOC84140							132.0	116.0	121.0					2																	62066780		1849	4104	5953	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62066780C>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1359G>T	2.37:g.62066780C>A						FAM161A_uc002sbm.3_Silent_p.V453V|FAM161A_uc002sbn.3_Silent_p.V263V|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.V344V	p.V453V	NM_032180	NP_115556	Q3B820	F161A_HUMAN			3	1461	-			453					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.1359G>T	CCDS42687.2																																																																																				0.383	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		17	56	1	0	4.7546e-09	0.004007	6.62633e-09	17	56				
BMP10	27302	broad.mit.edu	37	2	69093692	69093692	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:69093692G>T	ENST00000295379.1	-	2	504	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	116					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.Q116K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGACCGGCTGGGAAAACAGA	0.428																																							uc002sez.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(346-348)CAG>AAG		bone morphogenetic protein 10 preproprotein							26.0	28.0	28.0					2																	69093692		2199	4297	6496	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093692G>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.346C>A	2.37:g.69093692G>T	ENSP00000295379:p.Gln116Lys						p.Q116K	NM_014482	NP_055297	O95393	BMP10_HUMAN			2	505	-			116					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.346C>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	8.302	0.820240	0.16678	.	.	ENSG00000163217	ENST00000295379	T	0.63096	-0.02	5.41	5.41	0.78517	Transforming growth factor-beta, N-terminal (1);	0.359094	0.33199	N	0.005174	T	0.51568	0.1682	L	0.40543	1.245	0.28032	N	0.934105	B	0.02656	0.0	B	0.04013	0.001	T	0.36504	-0.9745	10	0.06099	T	0.92	.	18.3668	0.90394	0.0:0.0:1.0:0.0	.	116	O95393	BMP10_HUMAN	K	116	ENSP00000295379:Q116K	ENSP00000295379:Q116K	Q	-	1	0	BMP10	68947196	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	4.004000	0.57068	2.812000	0.96745	0.557000	0.71058	CAG		0.428	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		10	35	1	0	0.000442599	0.006214	0.000499343	10	35				
DYSF	8291	broad.mit.edu	37	2	71744159	71744159	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:71744159G>T	ENST00000258104.3	+	9	1173	c.896G>T	c.(895-897)gGg>gTg	p.G299V	DYSF_ENST00000409744.1_Missense_Mutation_p.G300V|DYSF_ENST00000413539.2_Missense_Mutation_p.G330V|DYSF_ENST00000410020.3_Missense_Mutation_p.G331V|DYSF_ENST00000394120.2_Missense_Mutation_p.G300V|DYSF_ENST00000429174.2_Missense_Mutation_p.G299V|DYSF_ENST00000409366.1_Missense_Mutation_p.G300V|DYSF_ENST00000409762.1_Missense_Mutation_p.G330V|DYSF_ENST00000409582.3_Missense_Mutation_p.G330V|DYSF_ENST00000409651.1_Missense_Mutation_p.G331V|DYSF_ENST00000410041.1_Missense_Mutation_p.G331V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	299	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.		G -> E (in MMD1). {ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:18853459}.|G -> R (in LGMD2B and proximodistal myopathy). {ECO:0000269|PubMed:16705711, ECO:0000269|PubMed:18306167, ECO:0000269|PubMed:18853459}.|G -> W (in MMD1). {ECO:0000269|PubMed:18306167}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.G299V(1)|p.G331V(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTCTCCTCGGGGAGTTCCGG	0.527																																							uc002sie.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7	GRCh37	CM053212	DYSF	M		c.(895-897)GGG>GTG		dysferlin isoform 8							181.0	161.0	168.0					2																	71744159		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71744159G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.896G>T	2.37:g.71744159G>T	ENSP00000258104:p.Gly299Val					DYSF_uc010feg.2_Missense_Mutation_p.G330V|DYSF_uc010feh.2_Missense_Mutation_p.G299V|DYSF_uc002sig.3_Missense_Mutation_p.G299V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G299V|DYSF_uc010fef.2_Missense_Mutation_p.G330V|DYSF_uc010fei.2_Missense_Mutation_p.G330V|DYSF_uc010fek.2_Missense_Mutation_p.G331V|DYSF_uc010fej.2_Missense_Mutation_p.G300V|DYSF_uc010fel.2_Missense_Mutation_p.G300V|DYSF_uc010feo.2_Missense_Mutation_p.G331V|DYSF_uc010fem.2_Missense_Mutation_p.G300V|DYSF_uc010fen.2_Missense_Mutation_p.G331V|DYSF_uc002sif.2_Missense_Mutation_p.G300V	p.G299V	NM_003494	NP_003485	O75923	DYSF_HUMAN			9	1272	+			299		G -> R (in LGMD2B and proximodistal myopathy).|G -> E (in MMD1).|G -> W (in MMD1).	Cytoplasmic (Potential).|C2 2.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.896G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392415	0.62066	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	4.6	3.72	0.42706	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98375	0.9460	H	0.94620	3.56	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.997;1.0;1.0;1.0	D	0.98674	1.0689	10	0.87932	D	0	-32.6446	10.6143	0.45441	0.0942:0.0:0.9058:0.0	.	331;331;300;300;331;300;330;299;330;330;299;299;300;299	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	330;330;330;299;299;331;300;300;300;331;331	ENSP00000407046:G330V;ENSP00000387137:G330V;ENSP00000386547:G330V;ENSP00000398305:G299V;ENSP00000258104:G299V;ENSP00000386683:G331V;ENSP00000377678:G300V;ENSP00000386285:G300V;ENSP00000386512:G300V;ENSP00000386881:G331V;ENSP00000386617:G331V	ENSP00000258104:G299V	G	+	2	0	DYSF	71597667	1.000000	0.71417	0.901000	0.35422	0.695000	0.40330	8.166000	0.89665	1.297000	0.44761	0.549000	0.68633	GGG		0.527	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	73	1	0	3.86212e-05	0.008291	4.5402e-05	10	73				
TTC31	64427	broad.mit.edu	37	2	74720290	74720290	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:74720290C>T	ENST00000233623.5	+	13	1512	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	TTC31_ENST00000442235.2_Nonsense_Mutation_p.Q161*|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	502								p.S502L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CAGGACCCTTCAAAGGGCTGG	0.587																																							uc002slt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1504-1506)TCA>TTA		tetratricopeptide repeat domain 31							62.0	65.0	64.0					2																	74720290		1905	4107	6012	SO:0001583	missense	64427						binding	g.chr2:74720290C>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1505C>T	2.37:g.74720290C>T	ENSP00000233623:p.Ser502Leu					TTC31_uc010yrv.1_Nonsense_Mutation_p.Q161*|TTC31_uc002slu.2_Missense_Mutation_p.S356L	p.S502L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN			13	1528	+			502					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.1505C>T	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.31|12.31	1.900609|1.900609	0.33535|0.33535	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000442235;ENST00000414247|ENST00000233623	.|T	.|0.63096	.|-0.02	3.39|3.39	2.5|2.5	0.30297|0.30297	.|.	.|0.691594	.|0.13028	.|N	.|0.419548	.|T	.|0.42921	.|0.1224	L|L	0.29908|0.29908	0.895|0.895	0.43863|0.43863	D|D	0.996465|0.996465	.|P;P	.|0.47034	.|0.889;0.889	.|B;B	.|0.36989	.|0.238;0.238	.|T	.|0.45512	.|-0.9256	.|10	.|0.54805	.|T	.|0.06	-0.8291|-0.8291	5.8462|5.8462	0.18667|0.18667	0.0:0.855:0.0:0.145|0.0:0.855:0.0:0.145	.|.	.|470;502	.|Q86XF2;Q49AM3	.|.;TTC31_HUMAN	X|L	161;229|502	.|ENSP00000233623:S502L	.|ENSP00000233623:S502L	Q|S	+|+	1|2	0|0	TTC31|TTC31	74573798|74573798	0.003000|0.003000	0.15002|0.15002	0.344000|0.344000	0.25628|0.25628	0.078000|0.078000	0.17371|0.17371	0.049000|0.049000	0.14099|0.14099	1.912000|1.912000	0.55364|0.55364	0.491000|0.491000	0.48974|0.48974	CAA|TCA		0.587	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		17	58	0	0	0	0.004007	0	17	58				
LRRTM4	80059	broad.mit.edu	37	2	77745707	77745707	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:77745707C>A	ENST00000409093.1	-	3	1624	c.1288G>T	c.(1288-1290)Gtg>Ttg	p.V430L	LRRTM4_ENST00000409088.3_Missense_Mutation_p.V430L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V430L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.V431L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.V431L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	430					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.V430L(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGAGAGCCACACTCCCGGCA	0.478																																							uc002snr.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1288-1290)GTG>TTG		leucine rich repeat transmembrane neuronal 4							77.0	78.0	78.0					2																	77745707		1976	4170	6146	SO:0001583	missense	80059					integral to membrane		g.chr2:77745707C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1288G>T	2.37:g.77745707C>A	ENSP00000386357:p.Val430Leu					LRRTM4_uc002snq.2_Missense_Mutation_p.V430L|LRRTM4_uc002sns.2_Missense_Mutation_p.V430L|LRRTM4_uc002snt.2_Missense_Mutation_p.V431L	p.V430L	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1703	-			430			Helical; (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1288G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845905	0.71603	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.68	5.68	0.88126	.	0.122763	0.53938	D	0.000043	D	0.84647	0.5518	M	0.74258	2.255	0.80722	D	1	D;D;D	0.57571	0.96;0.976;0.98	P;P;P	0.53518	0.539;0.728;0.685	D	0.84672	0.0712	10	0.45353	T	0.12	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	431;430;430	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	L	431;430;430;430;431	ENSP00000387228:V431L;ENSP00000387297:V430L;ENSP00000386357:V430L;ENSP00000386236:V430L;ENSP00000386286:V431L	ENSP00000386236:V430L	V	-	1	0	LRRTM4	77599215	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.818000	0.86416	2.670000	0.90874	0.655000	0.94253	GTG		0.478	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		21	56	1	0	2.37509e-13	0.010504	3.70207e-13	21	56				
LRRTM1	347730	broad.mit.edu	37	2	80530201	80530201	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80530201C>G	ENST00000295057.3	-	2	1400	c.744G>C	c.(742-744)gtG>gtC	p.V248V	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.V248V|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	248					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V248V(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGAGCTGACCACAATGGCCA	0.592										HNSCC(69;0.2)																													uc002sok.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(742-744)GTG>GTC		leucine rich repeat transmembrane neuronal 1							91.0	87.0	89.0					2																	80530201		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530201C>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.744G>C	2.37:g.80530201C>G		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.V248V	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1014	-			248			LRR 7.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.744G>C	CCDS1966.1																																																																																				0.592	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		19	56	0	0	0	0.006122	0	19	56				
CTNNA2	1496	broad.mit.edu	37	2	80646707	80646707	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80646707A>C	ENST00000402739.4	+	8	1276	c.1271A>C	c.(1270-1272)cAt>cCt	p.H424P	CTNNA2_ENST00000466387.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000540488.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000541047.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000361291.4_Missense_Mutation_p.H458P|CTNNA2_ENST00000496558.1_Missense_Mutation_p.H424P|CTNNA2_ENST00000343114.3_Missense_Mutation_p.H103P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	424					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.H424P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCCGTGAGCATGCCAACAAA	0.443																																							uc010ysh.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1270-1272)CAT>CCT		catenin, alpha 2 isoform 1							96.0	97.0	97.0					2																	80646707		2041	4235	6276	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646707A>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1271A>C	2.37:g.80646707A>C	ENSP00000384638:p.His424Pro					CTNNA2_uc010yse.1_Missense_Mutation_p.H424P|CTNNA2_uc010ysf.1_Missense_Mutation_p.H424P|CTNNA2_uc010ysg.1_Missense_Mutation_p.H424P|CTNNA2_uc010ysi.1_Missense_Mutation_p.H56P	p.H424P	NM_004389	NP_004380	P26232	CTNA2_HUMAN			8	1276	+			424					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1271A>C		.	.	.	.	.	.	.	.	.	.	A	23.7	4.444384	0.83993	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.83535	0.0093	9	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	56;424;424;424	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	P	424;424;458;424;424;424;103;89	ENSP00000418191:H424P;ENSP00000419295:H424P;ENSP00000355398:H458P;ENSP00000384638:H424P;ENSP00000444675:H424P;ENSP00000441705:H424P;ENSP00000341500:H103P;ENSP00000386587:H89P	.	H	+	2	0	CTNNA2	80500218	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	CAT		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		10	70	0	0	0	0.001368	0	10	70				
CTNNA2	1496	broad.mit.edu	37	2	80773070	80773070	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80773070G>T	ENST00000402739.4	+	10	1427	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q508H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q474H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q153H	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	474					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.Q474H(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCGGCCACAGAGCAAAGTTG	0.517																																							uc010ysh.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1420-1422)CAG>CAT		catenin, alpha 2 isoform 1							55.0	62.0	60.0					2																	80773070		2070	4222	6292	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80773070G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1422G>T	2.37:g.80773070G>T	ENSP00000384638:p.Gln474His					CTNNA2_uc010yse.1_Missense_Mutation_p.Q474H|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q474H|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q474H|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q106H	p.Q474H	NM_004389	NP_004380	P26232	CTNA2_HUMAN			10	1427	+			474					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1422G>T		.	.	.	.	.	.	.	.	.	.	G	13.59	2.281865	0.40394	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.9	1.74	0.24563	.	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	N	0.17872	0.535	0.47308	D	0.999388	B;B;B;B	0.11235	0.001;0.001;0.004;0.001	B;B;B;B	0.10450	0.002;0.005;0.005;0.003	T	0.05517	-1.0880	9	.	.	.	.	9.5003	0.39013	0.3558:0.0:0.6442:0.0	.	106;474;474;474	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	H	474;474;508;474;474;474;153;139	ENSP00000418191:Q474H;ENSP00000419295:Q474H;ENSP00000355398:Q508H;ENSP00000384638:Q474H;ENSP00000444675:Q474H;ENSP00000441705:Q474H;ENSP00000341500:Q153H;ENSP00000386587:Q139H	.	Q	+	3	2	CTNNA2	80626581	0.960000	0.32886	1.000000	0.80357	0.996000	0.88848	0.062000	0.14389	0.304000	0.22809	0.561000	0.74099	CAG		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		7	32	1	0	0.00198382	0.001984	0.00218689	7	32				
CTNNA2	1496	broad.mit.edu	37	2	80874769	80874769	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:80874769C>A	ENST00000402739.4	+	18	2639	c.2634C>A	c.(2632-2634)ctC>ctA	p.L878L	CTNNA2_ENST00000466387.1_Silent_p.L830L|CTNNA2_ENST00000540488.1_Silent_p.L785L|CTNNA2_ENST00000541047.1_Silent_p.L830L|CTNNA2_ENST00000361291.4_Silent_p.L864L|CTNNA2_ENST00000496558.1_Silent_p.L830L|CTNNA2_ENST00000343114.3_Silent_p.L509L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	878					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.L830L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGTTGTCCTCACGGTGAAAG	0.478																																							uc010ysh.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2632-2634)CTC>CTA		catenin, alpha 2 isoform 1							148.0	146.0	146.0					2																	80874769		1971	4186	6157	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874769C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2634C>A	2.37:g.80874769C>A						CTNNA2_uc010yse.1_Silent_p.L830L|CTNNA2_uc010ysf.1_Silent_p.L830L|CTNNA2_uc010ysg.1_Silent_p.L785L|CTNNA2_uc010ysi.1_Silent_p.L462L|CTNNA2_uc010ysj.1_Silent_p.L159L	p.L878L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			18	2639	+			878					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.2634C>A																																																																																					0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		26	144	1	0	7.38237e-10	0.00632	1.05855e-09	26	144				
TGOLN2	10618	broad.mit.edu	37	2	85554096	85554096	+	Silent	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:85554096A>C	ENST00000409232.3	-	2	820	c.759T>G	c.(757-759)gtT>gtG	p.V253V	TGOLN2_ENST00000409015.1_Silent_p.V253V|TGOLN2_ENST00000377386.3_Silent_p.V253V|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.V253V			O43493	TGON2_HUMAN	trans-golgi network protein 2	253						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.V253V(1)									GCTGCTCTGGAACCACCTTGT	0.567																																							uc010fgd.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(757-759)GTT>GTG		trans-golgi network protein 2							92.0	91.0	91.0					2																	85554096		1957	4135	6092	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554096A>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.759T>G	2.37:g.85554096A>C						TGOLN2_uc002soz.2_Silent_p.V253V|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Intron|TGOLN2_uc002spc.1_Silent_p.V253V	p.V253V	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	1048	-			253			Extracellular (Potential).		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.759T>G	CCDS56126.1																																																																																				0.567	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		15	139	0	0	0	0.003163	0	15	139				
SMYD1	150572	broad.mit.edu	37	2	88390656	88390656	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:88390656T>C	ENST00000419482.2	+	4	739	c.654T>C	c.(652-654)aaT>aaC	p.N218N	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N218N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	218	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.N218N(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TATTTAACAATGGCAAGTGAG	0.512																																							uc002ssr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(652-654)AAT>AAC		SET and MYND domain containing 1							171.0	160.0	164.0					2																	88390656		2203	4300	6503	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88390656T>C	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.654T>C	2.37:g.88390656T>C						SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	p.N218N	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			4	656	+			218			SET.		A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.654T>C	CCDS33240.1																																																																																				0.512	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		15	128	0	0	0	0.004007	0	15	128				
SMYD1	150572	broad.mit.edu	37	2	88409967	88409967	+	Missense_Mutation	SNP	C	C	A	rs374270722		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:88409967C>A	ENST00000419482.2	+	10	1494	c.1409C>A	c.(1408-1410)cCc>cAc	p.P470H	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.P457H	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	470					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.P470H(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AACAACCAGCCCATGCAGGTC	0.602																																							uc002ssr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1408-1410)CCC>CAC		SET and MYND domain containing 1							69.0	55.0	60.0					2																	88409967		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88409967C>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1409C>A	2.37:g.88409967C>A	ENSP00000393453:p.Pro470His					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.P166H	p.P470H	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			10	1411	+			470					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.1409C>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036524	0.75617	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.23950	1.88;1.88	5.83	4.88	0.63580	.	0.264128	0.38548	N	0.001652	T	0.29524	0.0736	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	P	0.54140	0.743	T	0.01904	-1.1250	10	0.72032	D	0.01	-15.0462	13.4087	0.60929	0.2139:0.7861:0.0:0.0	.	470	Q8NB12	SMYD1_HUMAN	H	470;457;291	ENSP00000393453:P470H;ENSP00000407888:P457H	ENSP00000295833:P291H	P	+	2	0	SMYD1	88191082	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.835000	0.55805	2.758000	0.94735	0.655000	0.94253	CCC		0.602	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		5	11	1	0	5.9392e-07	0.001168	7.59035e-07	5	11				
TEX37	200523	broad.mit.edu	37	2	88828655	88828655	+	Missense_Mutation	SNP	C	C	A	rs372947966		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:88828655C>A	ENST00000303254.3	+	4	348	c.206C>A	c.(205-207)cCt>cAt	p.P69H		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	69						nucleus (GO:0005634)		p.P69H(1)									GATGGGTACCCTGCTTTCAAA	0.547																																							uc002stb.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(205-207)CCT>CAT		chromosome 2 open reading frame 51							108.0	101.0	104.0					2																	88828655		2203	4300	6503	SO:0001583	missense	200523					nucleus		g.chr2:88828655C>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.206C>A	2.37:g.88828655C>A	ENSP00000307142:p.Pro69His						p.P69H	NM_152670	NP_689883	Q96LM6	TSC21_HUMAN			4	348	+			69						Missense_Mutation	SNP	ENST00000303254.3	37	c.206C>A	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134480	0.56828	.	.	ENSG00000172073	ENST00000303254	T	0.51071	0.72	4.61	4.61	0.57282	.	0.443564	0.19459	N	0.113743	T	0.55481	0.1923	L	0.34521	1.04	0.35382	D	0.790011	D	0.76494	0.999	D	0.66351	0.943	T	0.65709	-0.6102	10	0.87932	D	0	-0.689	13.1466	0.59465	0.0:1.0:0.0:0.0	.	69	Q96LM6	TSC21_HUMAN	H	69	ENSP00000307142:P69H	ENSP00000307142:P69H	P	+	2	0	C2orf51	88609770	0.069000	0.21087	0.996000	0.52242	0.575000	0.36095	1.791000	0.38744	2.561000	0.86390	0.462000	0.41574	CCT		0.547	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		8	67	1	0	0.00448238	0.004482	0.00488872	8	67				
ZAP70	7535	broad.mit.edu	37	2	98349797	98349797	+	Silent	SNP	G	G	T	rs200797733		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:98349797G>T	ENST00000264972.5	+	7	1043	c.828G>T	c.(826-828)acG>acT	p.T276T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.T150T|ZAP70_ENST00000451498.2_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	276	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.T276T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACCCATCCACGTTGACTCATG	0.697																																							uc002syd.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(826-828)ACG>ACT		zeta-chain associated protein kinase 70kDa							18.0	17.0	18.0					2																	98349797		2202	4299	6501	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98349797G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.828G>T	2.37:g.98349797G>T						ZAP70_uc010yvf.1_Silent_p.T276T|ZAP70_uc002sye.1_Silent_p.T166T|ZAP70_uc002syf.1_5'Flank	p.T276T	NM_001079	NP_001070	P43403	ZAP70_HUMAN			7	1035	+			276			Interdomain B.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.828G>T	CCDS33254.1																																																																																				0.697	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			3	11	1	0	0.004672	0.004672	0.00508113	3	11				
MAP4K4	9448	broad.mit.edu	37	2	102314937	102314937	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:102314937T>C	ENST00000347699.4	+	2	60	c.60T>C	c.(58-60)gaT>gaC	p.D20D	MAP4K4_ENST00000302217.5_Silent_p.D20D|MAP4K4_ENST00000425019.1_Silent_p.D20D|MAP4K4_ENST00000456652.1_Silent_p.D20D|MAP4K4_ENST00000413150.2_Silent_p.D20D|MAP4K4_ENST00000324219.4_Silent_p.D20D|MAP4K4_ENST00000350198.4_Silent_p.D20D	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	20					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCTCCAGGATCCTGCTGGGA	0.473																																							uc002tbg.2		NA																	0				stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(58-60)GAT>GAC		mitogen-activated protein kinase kinase kinase							226.0	221.0	222.0					2																	102314937		1848	4097	5945	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102314937T>C	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.60T>C	2.37:g.102314937T>C						MAP4K4_uc002tbc.2_Silent_p.D20D|MAP4K4_uc002tbd.2_Silent_p.D20D|MAP4K4_uc002tbe.2_Silent_p.D20D|MAP4K4_uc002tbf.2_Silent_p.D20D|MAP4K4_uc010yvy.1_Silent_p.D20D|MAP4K4_uc002tbh.2_Silent_p.D20D|MAP4K4_uc002tbi.2_Silent_p.D20D	p.D20D	NM_145687	NP_663720	O95819	M4K4_HUMAN			2	115	+			20					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.60T>C	CCDS56130.1																																																																																				0.473	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		8	380	0	0	0	0.00308	0	8	380				
SLC9A2	6549	broad.mit.edu	37	2	103300762	103300762	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:103300762C>T	ENST00000233969.2	+	5	1534	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	464					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.A464A(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTACGGCTGCCATTGTTGTCA	0.403																																							uc002tca.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(1390-1392)GCC>GCT		solute carrier family 9 (sodium/hydrogen							182.0	180.0	181.0					2																	103300762		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103300762C>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1392C>T	2.37:g.103300762C>T							p.A464A	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			5	1534	+			464			Helical; Name=M13; (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.1392C>T	CCDS2062.1																																																																																				0.403	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			50	152	0	0	0	0.00361	0	50	152				
ST6GAL2	84620	broad.mit.edu	37	2	107459973	107459973	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:107459973C>A	ENST00000409382.3	-	2	1071	c.461G>T	c.(460-462)gGg>gTg	p.G154V	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G154V|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G154V|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	154			G -> R (in dbSNP:rs3796110).		growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCCTGGCTCCCCGGGGGAAGG	0.622																																							uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(460-462)GGG>GTG		ST6 beta-galactosamide							82.0	99.0	93.0					2																	107459973		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459973C>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.461G>T	2.37:g.107459973C>A	ENSP00000386942:p.Gly154Val					ST6GAL2_uc002tdr.2_Missense_Mutation_p.G154V|ST6GAL2_uc002tds.3_Missense_Mutation_p.G154V	p.G154V	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	580	-			154			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.461G>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438990	0.25900	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32515	2.47;2.47;1.45	4.89	4.01	0.46588	.	1.084480	0.07015	N	0.825771	T	0.14614	0.0353	N	0.08118	0	0.22240	N	0.999264	P;B	0.37276	0.589;0.201	B;B	0.30572	0.117;0.058	T	0.13442	-1.0509	10	0.27082	T	0.32	-3.3377	6.4966	0.22146	0.0:0.7049:0.0:0.2951	.	154;154	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	V	154	ENSP00000355273:G154V;ENSP00000386942:G154V;ENSP00000387332:G154V	ENSP00000355273:G154V	G	-	2	0	ST6GAL2	106826405	0.000000	0.05858	0.014000	0.15608	0.191000	0.23601	0.798000	0.27014	1.052000	0.40392	0.561000	0.74099	GGG		0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		88	129	1	0	1.55023e-36	0.00361	2.92927e-36	88	129				
RGPD4	285190	broad.mit.edu	37	2	108488503	108488503	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:108488503C>G	ENST00000408999.3	+	20	4120	c.4043C>G	c.(4042-4044)tCc>tGc	p.S1348C	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1348C	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1348	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)			p.S1348C(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTTGAAGTATCCAGTGGTGAG	0.393																																							uc010ywk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(4042-4044)TCC>TGC		RANBP2-like and GRIP domain containing 4							25.0	19.0	21.0					2																	108488503		692	1589	2281	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488503C>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4043C>G	2.37:g.108488503C>G	ENSP00000386810:p.Ser1348Cys					RGPD4_uc002tdu.2_Missense_Mutation_p.S535C|RGPD4_uc010ywl.1_Intron	p.S1348C	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	4125	+			1348			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4043C>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	9.914	1.210441	0.22289	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.46063	0.88;0.88	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.54775	0.1879	L	0.47716	1.5	0.23851	N	0.996667	D	0.89917	1.0	D	0.75484	0.986	T	0.40701	-0.9549	9	0.51188	T	0.08	-12.2747	11.5771	0.50869	0.0:1.0:0.0:0.0	.	1348	Q7Z3J3	RGPD4_HUMAN	C	1348	ENSP00000347081:S1348C;ENSP00000386810:S1348C	ENSP00000347081:S1348C	S	+	2	0	RGPD4	107854935	0.989000	0.36119	1.000000	0.80357	0.571000	0.35966	4.593000	0.61034	1.303000	0.44873	0.162000	0.16502	TCC		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		29	362	0	0	0	0.002836	0	29	362				
ZC3H6	376940	broad.mit.edu	37	2	113069485	113069485	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:113069485G>A	ENST00000409871.1	+	5	1119	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	ZC3H6_ENST00000343936.4_Missense_Mutation_p.V240M	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	240							metal ion binding (GO:0046872)	p.V240M(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGGGCCTAATGTGTTTTCAGT	0.383																																							uc002thq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(718-720)GTG>ATG		zinc finger CCCH-type domain containing 6							77.0	80.0	79.0					2																	113069485		1841	4080	5921	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113069485G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.718G>A	2.37:g.113069485G>A	ENSP00000386764:p.Val240Met						p.V240M	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			5	1112	+			240					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.718G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912779	0.17907	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.14266	2.52;2.52	4.98	1.18	0.20946	.	1.489500	0.03873	N	0.275866	T	0.12050	0.0293	L	0.36672	1.1	0.09310	N	1	B	0.19445	0.036	B	0.13407	0.009	T	0.31475	-0.9942	10	0.38643	T	0.18	-0.2307	5.1685	0.15098	0.3175:0.1385:0.5439:0.0	.	240	P61129	ZC3H6_HUMAN	M	240;240;217	ENSP00000386764:V240M;ENSP00000340298:V240M	ENSP00000340298:V240M	V	+	1	0	ZC3H6	112785956	0.937000	0.31787	0.001000	0.08648	0.761000	0.43186	0.766000	0.26560	0.005000	0.14708	0.462000	0.41574	GTG		0.383	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		5	58	0	0	0	0.000602	0	5	58				
CNTNAP5	129684	broad.mit.edu	37	2	125204404	125204404	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:125204404C>A	ENST00000431078.1	+	6	1172	c.808C>A	c.(808-810)Cac>Aac	p.H270N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	270	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.H270N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGCACTGGCACTCGGTCCT	0.607																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(808-810)CAC>AAC		contactin associated protein-like 5 precursor							73.0	77.0	76.0					2																	125204404		2165	4283	6448	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204404C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.808C>A	2.37:g.125204404C>A	ENSP00000399013:p.His270Asn					CNTNAP5_uc010flu.2_Missense_Mutation_p.H270N	p.H270N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1172	+			270			Laminin G-like 1.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.808C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703935	0.88924	.	.	ENSG00000155052	ENST00000431078	D	0.86865	-2.18	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.53938	D	0.000053	D	0.96018	0.8703	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96383	0.9283	10	0.66056	D	0.02	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	270	Q8WYK1	CNTP5_HUMAN	N	270	ENSP00000399013:H270N	ENSP00000399013:H270N	H	+	1	0	CNTNAP5	124920874	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.666000	0.83877	2.941000	0.99782	0.655000	0.94253	CAC		0.607	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			27	47	1	0	7.92952e-12	0.003954	1.1972e-11	27	47				
CNTNAP5	129684	broad.mit.edu	37	2	125405454	125405454	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:125405454G>C	ENST00000431078.1	+	13	2357	c.1993G>C	c.(1993-1995)Gag>Cag	p.E665Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	665	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.E665Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGAACAGCTGGAGGCCGTGAT	0.622																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1993-1995)GAG>CAG		contactin associated protein-like 5 precursor							34.0	38.0	36.0					2																	125405454		2101	4211	6312	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125405454G>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1993G>C	2.37:g.125405454G>C	ENSP00000399013:p.Glu665Gln					CNTNAP5_uc010flu.2_Missense_Mutation_p.E666Q	p.E665Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2357	+			665			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1993G>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443851	0.12164	.	.	ENSG00000155052	ENST00000431078	T	0.15256	2.44	5.2	5.2	0.72013	.	0.287377	0.24262	N	0.040080	T	0.21022	0.0506	L	0.41079	1.255	0.35223	D	0.776165	D	0.58620	0.983	P	0.51582	0.674	T	0.02257	-1.1187	10	0.05351	T	0.99	.	18.0912	0.89476	0.0:0.0:1.0:0.0	.	665	Q8WYK1	CNTP5_HUMAN	Q	665	ENSP00000399013:E665Q	ENSP00000399013:E665Q	E	+	1	0	CNTNAP5	125121924	0.875000	0.30112	0.995000	0.50966	0.926000	0.56050	0.851000	0.27751	2.588000	0.87417	0.561000	0.74099	GAG		0.622	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	12	0	0	0	0.004672	0	3	12				
BIN1	274	broad.mit.edu	37	2	127808384	127808384	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:127808384C>A	ENST00000316724.5	-	17	1977	c.1566G>T	c.(1564-1566)atG>atT	p.M522I	BIN1_ENST00000259238.4_Missense_Mutation_p.M426I|BIN1_ENST00000352848.3_Missense_Mutation_p.M383I|BIN1_ENST00000348750.4_Missense_Mutation_p.M338I|BIN1_ENST00000393040.3_Missense_Mutation_p.M411I|BIN1_ENST00000393041.3_Missense_Mutation_p.M404I|BIN1_ENST00000351659.3_Missense_Mutation_p.M435I|BIN1_ENST00000409400.1_Missense_Mutation_p.M368I|BIN1_ENST00000376113.2_Missense_Mutation_p.M353I|BIN1_ENST00000346226.3_Missense_Mutation_p.M447I|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000357970.3_Missense_Mutation_p.M479I	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	522	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.M426I(1)|p.M522I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCACCTTGAACATGAAACCTG	0.627											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002tns.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7						c.(1564-1566)ATG>ATT		bridging integrator 1 isoform 1							48.0	55.0	53.0					2																	127808384		2203	4300	6503	SO:0001583	missense	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127808384C>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1566G>T	2.37:g.127808384C>A	ENSP00000316779:p.Met522Ile		OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1560	BIN1_uc010yzf.1_Missense_Mutation_p.M314I|BIN1_uc010yzg.1_Missense_Mutation_p.M399I|BIN1_uc002tnu.1_Missense_Mutation_p.M353I|BIN1_uc002toa.1_Missense_Mutation_p.M411I|BIN1_uc002tnt.1_Missense_Mutation_p.M338I|BIN1_uc002tnv.1_Missense_Mutation_p.M479I|BIN1_uc002tnw.1_Missense_Mutation_p.M426I|BIN1_uc002tnx.1_Missense_Mutation_p.M383I|BIN1_uc002tny.1_Missense_Mutation_p.M435I|BIN1_uc002tnz.1_Missense_Mutation_p.M447I|BIN1_uc002tob.1_Missense_Mutation_p.M368I|BIN1_uc002toc.1_Missense_Mutation_p.M404I	p.M522I	NM_139343	NP_647593	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	17	1911	-	Colorectal(110;0.0831)		522			SH3.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	c.1566G>T	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389331	0.42410	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.62788	0.59;0.0;0.6;0.61;0.59;0.58;0.58;0.57;0.63;0.01;0.61	4.82	4.82	0.62117	Src homology-3 domain (2);	0.110120	0.64402	D	0.000006	T	0.37293	0.0998	N	0.02315	-0.6	0.27635	N	0.947891	B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.0;0.0;0.001;0.0;0.003;0.0;0.002;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.001;0.003;0.003;0.002;0.004;0.004;0.003;0.002;0.005;0.001;0.001;0.005	T	0.38972	-0.9636	10	0.66056	D	0.02	-21.7923	12.5391	0.56158	0.1674:0.8326:0.0:0.0	.	399;314;404;368;411;447;435;383;426;479;353;338;522	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	I	353;479;411;338;426;447;404;435;383;522;368	ENSP00000365281:M353I;ENSP00000350654:M479I;ENSP00000376760:M411I;ENSP00000259237:M338I;ENSP00000259238:M426I;ENSP00000315411:M447I;ENSP00000376761:M404I;ENSP00000315388:M435I;ENSP00000315284:M383I;ENSP00000316779:M522I;ENSP00000386797:M368I	ENSP00000259238:M426I	M	-	3	0	BIN1	127524854	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.368000	0.34216	2.506000	0.84524	0.555000	0.69702	ATG		0.627	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		50	78	1	0	9.52127e-25	0.00361	1.70299e-24	50	78				
MYO7B	4648	broad.mit.edu	37	2	128351140	128351140	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:128351140A>T	ENST00000409816.2	+	17	2197	c.2165A>T	c.(2164-2166)cAg>cTg	p.Q722L	MYO7B_ENST00000428314.1_Missense_Mutation_p.Q722L|MYO7B_ENST00000389524.4_Missense_Mutation_p.Q722L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	722	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q722L(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGCTCCGCCAGATGACCCTG	0.617																																							uc002top.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2164-2166)CAG>CTG		myosin VIIB							80.0	88.0	85.0					2																	128351140		1944	4137	6081	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128351140A>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2165A>T	2.37:g.128351140A>T	ENSP00000386461:p.Gln722Leu						p.Q722L	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	18	2218	+	Colorectal(110;0.1)		722			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2165A>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	A	8.913	0.959109	0.18507	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87809	-2.3;-2.3;-2.3	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.269175	0.35903	N	0.002920	D	0.83198	0.5202	L	0.49513	1.565	0.36188	D	0.849919	B	0.19331	0.035	B	0.17433	0.018	T	0.82510	-0.0421	10	0.30854	T	0.27	.	13.7802	0.63079	1.0:0.0:0.0:0.0	.	722	Q6PIF6	MYO7B_HUMAN	L	722	ENSP00000374175:Q722L;ENSP00000415090:Q722L;ENSP00000386461:Q722L	ENSP00000374175:Q722L	Q	+	2	0	MYO7B	128067610	0.004000	0.15560	0.877000	0.34402	0.038000	0.13279	1.603000	0.36794	1.922000	0.55676	0.459000	0.35465	CAG		0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		32	73	0	0	0	0.003271	0	32	73				
SAP130	79595	broad.mit.edu	37	2	128775444	128775444	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:128775444T>A	ENST00000259235.3	-	3	365	c.236A>T	c.(235-237)cAc>cTc	p.H79L	SAP130_ENST00000357702.5_Missense_Mutation_p.H79L|SAP130_ENST00000259234.6_Missense_Mutation_p.H53L	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	79					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.H79L(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAACTCATGTGCTCCCTGGC	0.502																																							uc002tpp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(235-237)CAC>CTC		Sin3A-associated protein, 130kDa isoform b							99.0	86.0	90.0					2																	128775444		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775444T>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.236A>T	2.37:g.128775444T>A	ENSP00000259235:p.His79Leu					SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.H79L|SAP130_uc002tpq.1_Missense_Mutation_p.H53L	p.H79L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	368	-	Colorectal(110;0.1)		79					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.236A>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062320	0.76187	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.79	5.79	0.91817	.	0.101163	0.64402	D	0.000002	T	0.38506	0.1043	N	0.14661	0.345	0.49299	D	0.999776	B;P;B	0.36837	0.045;0.571;0.397	B;B;B	0.38712	0.01;0.28;0.132	T	0.28038	-1.0056	9	0.27082	T	0.32	-16.2887	14.6818	0.69023	0.0:0.0:0.0:1.0	.	79;53;79	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	L	79;79;53;53;53	.	ENSP00000259234:H53L	H	-	2	0	SAP130	128491914	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.742000	0.55097	2.200000	0.70718	0.477000	0.44152	CAC		0.502	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		10	54	0	0	0	0.000978	0	10	54				
POTEF	728378	broad.mit.edu	37	2	130832240	130832240	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:130832240G>T	ENST00000409914.2	-	17	3204	c.2805C>A	c.(2803-2805)tcC>tcA	p.S935S	POTEF_ENST00000357462.5_Silent_p.S935S	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	935	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S935S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTTCTCTAGGGAGGAGCTGG	0.622																																							uc010fmh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(2803-2805)TCC>TCA		prostate, ovary, testis expressed protein on							31.0	35.0	33.0					2																	130832240		2112	4205	6317	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832240G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2805C>A	2.37:g.130832240G>T							p.S935S	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	3205	-			935			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2805C>A	CCDS46409.1																																																																																				0.622	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		20	45	1	0	0.000229342	0.001882	0.000262397	20	45				
AMER3	205147	broad.mit.edu	37	2	131521368	131521368	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:131521368A>T	ENST00000423981.1	+	2	1833	c.1723A>T	c.(1723-1725)Aca>Tca	p.T575S	AMER3_ENST00000321420.4_Missense_Mutation_p.T575S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	575					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.T575S(1)									CCCGGGCACCACAGGCCTGCT	0.672																																							uc002trw.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1723-1725)ACA>TCA		hypothetical protein LOC205147							25.0	30.0	28.0					2																	131521368		2203	4297	6500	SO:0001583	missense	205147							g.chr2:131521368A>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1723A>T	2.37:g.131521368A>T	ENSP00000392700:p.Thr575Ser					FAM123C_uc010fmv.2_Missense_Mutation_p.T575S|FAM123C_uc010fms.1_Missense_Mutation_p.T575S|FAM123C_uc010fmt.1_Missense_Mutation_p.T575S|FAM123C_uc010fmu.1_Missense_Mutation_p.T575S	p.T575S	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1913	+	Colorectal(110;0.1)		575					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1723A>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556852	0.27827	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.42131	0.98;0.98	4.69	-4.81	0.03180	.	0.772206	0.10975	N	0.613411	T	0.17959	0.0431	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.09377	0.004	T	0.39742	-0.9599	10	0.05620	T	0.96	.	15.2557	0.73582	0.2304:0.7696:0.0:0.0	.	575	Q8N944	F123C_HUMAN	S	575	ENSP00000314914:T575S;ENSP00000392700:T575S	ENSP00000314914:T575S	T	+	1	0	FAM123C	131237838	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.516000	0.22817	-0.497000	0.06641	0.459000	0.35465	ACA		0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		19	28	0	0	0	0.006122	0	19	28				
AMER3	205147	broad.mit.edu	37	2	131521382	131521382	+	Silent	SNP	C	C	A	rs200984217	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:131521382C>A	ENST00000423981.1	+	2	1847	c.1737C>A	c.(1735-1737)gcC>gcA	p.A579A	AMER3_ENST00000321420.4_Silent_p.A579A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	579					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.A579A(1)									GCCTGCTCGCCGGAGAGAGCA	0.662													C|||	3	0.000599042	0.0	0.0	5008	,	,		14229	0.003		0.0	False		,,,				2504	0.0						uc002trw.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1735-1737)GCC>GCA		hypothetical protein LOC205147		C	,,,	0,4406		0,0,2203	30.0	36.0	34.0		1737,1737,1737,1737	-8.8	0.0	2		34	2,8594	1.2+/-3.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	,,,	0,2,6499	AA,AC,CC		0.0233,0.0,0.0154	,,,	579/862,579/862,579/862,579/862	131521382	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	205147							g.chr2:131521382C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1737C>A	2.37:g.131521382C>A						FAM123C_uc010fmv.2_Silent_p.A579A|FAM123C_uc010fms.1_Silent_p.A579A|FAM123C_uc010fmt.1_Silent_p.A579A|FAM123C_uc010fmu.1_Silent_p.A579A	p.A579A	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1927	+	Colorectal(110;0.1)		579					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1737C>A	CCDS2164.1																																																																																				0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		24	34	1	0	2.21704e-12	0.00278	3.38714e-12	24	34				
TUBA3D	113457	broad.mit.edu	37	2	132238109	132238109	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:132238109C>A	ENST00000321253.6	+	4	950	c.843C>A	c.(841-843)gcC>gcA	p.A281A		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	281					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A281A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGAGAAGGCCTACCACGAGC	0.577																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(841-843)GCC>GCA		tubulin, alpha 3d							77.0	115.0	102.0					2																	132238109		2184	4297	6481	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238109C>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.843C>A	2.37:g.132238109C>A							p.A281A	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	950	+			281					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.843C>A	CCDS33290.1																																																																																				0.577	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		71	116	1	0	1.77791e-30	0.00361	3.30675e-30	71	116				
NCKAP5	344148	broad.mit.edu	37	2	133539711	133539711	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:133539711G>C	ENST00000409261.1	-	14	5046	c.4673C>G	c.(4672-4674)cCt>cGt	p.P1558R	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1558R|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1558								p.P1558R(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGTAGTTCAGGCTTCTTTTT	0.378																																							uc002ttp.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(4672-4674)CCT>CGT		Nck-associated protein 5 isoform 1							141.0	130.0	133.0					2																	133539711		1849	4096	5945	SO:0001583	missense	344148						protein binding	g.chr2:133539711G>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4673C>G	2.37:g.133539711G>C	ENSP00000387128:p.Pro1558Arg					NCKAP5_uc002ttq.2_Intron	p.P1558R	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	5047	-			1558					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4673C>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908355	0.33721	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09350	2.99;2.99	5.33	4.43	0.53597	.	0.624337	0.11884	U	0.520243	T	0.08179	0.0204	N	0.19112	0.55	0.22156	N	0.999321	P	0.44380	0.834	B	0.42282	0.382	T	0.19943	-1.0290	10	0.25751	T	0.34	.	9.4479	0.38708	0.0771:0.1426:0.7803:0.0	.	1558	O14513	NCKP5_HUMAN	R	1558	ENSP00000387128:P1558R;ENSP00000380603:P1558R	ENSP00000380603:P1558R	P	-	2	0	NCKAP5	133256181	0.828000	0.29307	0.972000	0.41901	0.941000	0.58515	2.851000	0.48302	2.781000	0.95711	0.591000	0.81541	CCT		0.378	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		12	160	0	0	0	0.000978	0	12	160				
CXCR4	7852	broad.mit.edu	37	2	136873041	136873041	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:136873041C>T	ENST00000241393.3	-	2	561	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.E157K	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	153					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.E157K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	ACCACCTTTTCAGCCAACAGC	0.547																																							uc002tuz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(457-459)GAA>AAA		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						190.0	158.0	169.0					2																	136873041		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873041C>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.457G>A	2.37:g.136873041C>T	ENSP00000241393:p.Glu153Lys					CXCR4_uc002tuy.2_Missense_Mutation_p.E157K|CXCR4_uc010fnk.2_Missense_Mutation_p.E138K	p.E153K	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	552	-			153			Cytoplasmic.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.457G>A	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120454	0.56613	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.36878	1.23;1.23	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.284684	0.39615	N	0.001311	T	0.40119	0.1104	L	0.48362	1.52	0.46131	D	0.998887	P;P	0.46220	0.483;0.874	P;B	0.44477	0.451;0.25	T	0.04752	-1.0929	10	0.27785	T	0.31	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	153;157	P61073;P61073-2	CXCR4_HUMAN;.	K	157;153	ENSP00000386884:E157K;ENSP00000241393:E153K	ENSP00000241393:E153K	E	-	1	0	CXCR4	136589511	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	3.131000	0.50515	2.734000	0.93682	0.655000	0.94253	GAA		0.547	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			27	110	0	0	0	0.003954	0	27	110				
LRP1B	53353	broad.mit.edu	37	2	141079550	141079550	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:141079550T>A	ENST00000389484.3	-	82	13593	c.12622A>T	c.(12622-12624)Aat>Tat	p.N4208Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4208	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.N4208Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGTCATCATTGCAGGTGCCA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12622-12624)AAT>TAT		low density lipoprotein-related protein 1B							77.0	84.0	81.0					2																	141079550		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141079550T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12622A>T	2.37:g.141079550T>A	ENSP00000374135:p.Asn4208Tyr	TSP Lung(27;0.18)					p.N4208Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	82	13594	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4208			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12622A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	t	12.64	1.999846	0.35320	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90324	-2.65	5.05	3.87	0.44632	Growth factor, receptor (1);Epidermal growth factor-like (1);	1.462090	0.04176	N	0.325586	D	0.86343	0.5910	L	0.29908	0.895	0.21499	N	0.99967	B	0.10296	0.003	B	0.11329	0.006	T	0.72343	-0.4322	10	0.52906	T	0.07	.	7.9707	0.30126	0.0:0.0747:0.1418:0.7835	.	4208	Q9NZR2	LRP1B_HUMAN	Y	4208;4146	ENSP00000374135:N4208Y	ENSP00000374135:N4208Y	N	-	1	0	LRP1B	140796020	0.993000	0.37304	0.989000	0.46669	0.996000	0.88848	2.321000	0.43805	0.834000	0.34852	0.528000	0.53228	AAT		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	123	0	0	0	0.003163	0	13	123				
LRP1B	53353	broad.mit.edu	37	2	141747099	141747099	+	Splice_Site	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:141747099A>T	ENST00000389484.3	-	17	3742		c.e17+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.?(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAAACCTTTACCTGTGCAAG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Unknown(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.e17+1		low density lipoprotein-related protein 1B							120.0	115.0	117.0					2																	141747099		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747099A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2770+1T>A	2.37:g.141747099A>T		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.A924_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3742	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.2770_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644479	0.47258	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.69	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2106	0.54377	0.8721:0.0:0.0:0.1279	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	141463569	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	9.228000	0.95250	1.048000	0.40298	0.533000	0.62120	.		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	44	92	0	0	0	0.00361	0	44	92				
ZEB2	9839	broad.mit.edu	37	2	145156855	145156855	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:145156855G>T	ENST00000558170.2	-	8	3083	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	ZEB2_ENST00000539609.3_Silent_p.A609A|ZEB2_ENST00000303660.4_Silent_p.A633A|ZEB2_ENST00000409487.3_Silent_p.A633A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	633					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.A633A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACAAGAGGAGGGCTTTATTAT	0.428																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1897-1899)GCC>GCA		zinc finger homeobox 1b							67.0	68.0	68.0					2																	145156855		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156855G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1899C>A	2.37:g.145156855G>T						ZEB2_uc002tvv.2_Silent_p.A627A|ZEB2_uc010zbm.1_Silent_p.A604A|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.A662A	p.A633A	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2379	-			633					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.1899C>A	CCDS2186.1																																																																																				0.428	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		6	79	1	0	3.59834e-05	0.001168	4.24306e-05	6	79				
NMI	9111	broad.mit.edu	37	2	152132019	152132019	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:152132019T>C	ENST00000243346.5	-	6	1083	c.613A>G	c.(613-615)Atc>Gtc	p.I205V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	205					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)	p.I205V(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		ACAAACGTGATGACTGCACTC	0.468																																							uc002txi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(613-615)ATC>GTC		N-myc and STAT interactor							97.0	90.0	93.0					2																	152132019		2203	4300	6503	SO:0001583	missense	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152132019T>C	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.613A>G	2.37:g.152132019T>C	ENSP00000243346:p.Ile205Val						p.I205V	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	6	943	-			205					B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	c.613A>G	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	T	6.148	0.395479	0.11638	.	.	ENSG00000123609	ENST00000243346	T	0.02787	4.16	5.33	1.57	0.23409	Nmi/IFP 35 (1);Nucleotide-binding, alpha-beta plait (1);	0.252382	0.46442	N	0.000299	T	0.03178	0.0093	L	0.37697	1.125	0.45415	D	0.998397	B	0.29115	0.233	B	0.35240	0.198	T	0.52381	-0.8583	10	0.46703	T	0.11	-5.7543	7.3053	0.26445	0.0:0.2609:0.0:0.7391	.	205	Q13287	NMI_HUMAN	V	205	ENSP00000243346:I205V	ENSP00000243346:I205V	I	-	1	0	NMI	151840265	0.805000	0.28982	0.978000	0.43139	0.026000	0.11368	0.730000	0.26043	0.093000	0.17368	0.482000	0.46254	ATC		0.468	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		6	95	0	0	0	0.001984	0	6	95				
NEB	4703	broad.mit.edu	37	2	152507313	152507313	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:152507313G>T	ENST00000172853.10	-	53	7149	c.7002C>A	c.(7000-7002)tcC>tcA	p.S2334S	NEB_ENST00000409198.1_Silent_p.S2334S|NEB_ENST00000397345.3_Silent_p.S2334S|NEB_ENST00000603639.1_Silent_p.S2334S|NEB_ENST00000604864.1_Silent_p.S2334S|NEB_ENST00000427231.2_Silent_p.S2334S			P20929	NEBU_HUMAN	nebulin	2334					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)	p.S2334S(2)		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)		CTACATTCATGGACAACACAA	0.433																																							uc010fnx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7000-7002)TCC>TCA		nebulin isoform 3							208.0	211.0	210.0					2																	152507313		1978	4166	6144	SO:0001819	synonymous_variant	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.chr2:152507313G>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.7002C>A	2.37:g.152507313G>T							p.S2334S	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	53	7193	-			2334			Nebulin 62.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.7002C>A																																																																																					0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		14	366	1	0	1.5842e-08	0.001855	2.18022e-08	14	366				
GALNT5	11227	broad.mit.edu	37	2	158115854	158115854	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:158115854G>T	ENST00000259056.4	+	1	1745	c.1260G>T	c.(1258-1260)acG>acT	p.T420T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	420					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T420T(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACAGTGGAACGCACCAGGTGT	0.493																																							uc002tzg.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(1258-1260)ACG>ACT		N-acetylgalactosaminyltransferase 5							80.0	77.0	78.0					2																	158115854		2203	4300	6503	SO:0001819	synonymous_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115854G>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1260G>T	2.37:g.158115854G>T						GALNT5_uc010zci.1_RNA	p.T420T	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	1515	+			420			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	c.1260G>T	CCDS2203.1																																																																																				0.493	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		11	51	1	0	9.70103e-10	0.008291	1.38844e-09	11	51				
ERMN	57471	broad.mit.edu	37	2	158178131	158178131	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:158178131G>A	ENST00000410096.1	-	3	798	c.507C>T	c.(505-507)gaC>gaT	p.D169D	ERMN_ENST00000420719.2_Silent_p.D149D|ERMN_ENST00000397283.2_Silent_p.D182D|ERMN_ENST00000535935.1_Silent_p.D63D	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	169					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.D182D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AATGTAACATGTCAGCTTGGC	0.413																																							uc002tzh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(505-507)GAC>GAT		ermin, ERM-like protein isoform b							177.0	167.0	170.0					2																	158178131		1942	4143	6085	SO:0001819	synonymous_variant	57471					cytoplasm|cytoskeleton		g.chr2:158178131G>A	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.507C>T	2.37:g.158178131G>A						ERMN_uc010zcj.1_Silent_p.D63D|ERMN_uc010zck.1_Silent_p.D149D|ERMN_uc002tzi.2_Silent_p.D182D	p.D169D	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN			3	769	-			169					B4DKA6|Q9ULN1	Silent	SNP	ENST00000410096.1	37	c.507C>T	CCDS46431.1																																																																																				0.413	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		50	121	0	0	0	0.00361	0	50	121				
PLA2R1	22925	broad.mit.edu	37	2	160798647	160798647	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:160798647G>C	ENST00000283243.7	-	29	4374	c.4168C>G	c.(4168-4170)Cca>Gca	p.P1390A	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1390					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.P1390A(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCTTTTTCTGGCAGCGCCTCT	0.303																																							uc002ube.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4168-4170)CCA>GCA		phospholipase A2 receptor 1 isoform 1 precursor							51.0	56.0	54.0					2																	160798647		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160798647G>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4168C>G	2.37:g.160798647G>C	ENSP00000283243:p.Pro1390Ala					PLA2R1_uc010zcp.1_Missense_Mutation_p.P1388A	p.P1390A	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			29	4375	-			1390			Extracellular (Potential).		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4168C>G	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	5.283	0.237543	0.10023	.	.	ENSG00000153246	ENST00000283243	T	0.07216	3.21	5.89	0.59	0.17458	.	0.584295	0.17840	N	0.160258	T	0.06917	0.0176	L	0.56769	1.78	0.09310	N	0.999997	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.41734	-0.9492	10	0.12430	T	0.62	.	4.6125	0.12409	0.3389:0.291:0.37:0.0	.	1388;1390	B7ZML4;Q13018	.;PLA2R_HUMAN	A	1390	ENSP00000283243:P1390A	ENSP00000283243:P1390A	P	-	1	0	PLA2R1	160506893	0.053000	0.20554	0.090000	0.20809	0.070000	0.16714	0.140000	0.16056	0.372000	0.24591	0.655000	0.94253	CCA		0.303	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			26	45	0	0	0	0.007291	0	26	45				
SLC4A10	57282	broad.mit.edu	37	2	162821590	162821590	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:162821590G>A	ENST00000446997.1	+	23	3159	c.3066G>A	c.(3064-3066)ttG>ttA	p.L1022L	SLC4A10_ENST00000375514.5_Silent_p.L1003L|SLC4A10_ENST00000415876.2_Silent_p.L992L|SLC4A10_ENST00000421911.1_Silent_p.L1022L|SLC4A10_ENST00000272716.5_Silent_p.L992L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1022					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L992L(1)|p.L1022L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TAAGAAAGTTGATGGACTTGT	0.378																																							uc002ubx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(3064-3066)TTG>TTA		solute carrier family 4, sodium bicarbonate							90.0	82.0	84.0					2																	162821590		1810	4087	5897	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162821590G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3066G>A	2.37:g.162821590G>A						SLC4A10_uc002uby.3_Silent_p.L992L|SLC4A10_uc010zcs.1_Silent_p.L1003L	p.L1022L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			23	3250	+			1022			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.3066G>A	CCDS54411.1																																																																																				0.378	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		5	54	0	0	0	0.000602	0	5	54				
KCNH7	90134	broad.mit.edu	37	2	163228428	163228428	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:163228428G>A	ENST00000332142.5	-	16	3601	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1168					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.H1168Y(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAAGAAGGATGCCTAATTGGA	0.413																																					GBM(196;1492 2208 17507 24132 45496)	GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3502-3504)CAT>TAT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						117.0	104.0	108.0					2																	163228428		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163228428G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3502C>T	2.37:g.163228428G>A	ENSP00000331727:p.His1168Tyr						p.H1168Y	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			16	3714	-			1168			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.3502C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847589	0.51164	.	.	ENSG00000184611	ENST00000332142	D	0.98474	-4.95	5.43	5.43	0.79202	.	0.123924	0.51477	D	0.000083	D	0.93818	0.8023	N	0.19112	0.55	0.80722	D	1	P	0.39282	0.666	B	0.32022	0.139	D	0.93775	0.7078	10	0.02654	T	1	.	19.2485	0.93913	0.0:0.0:1.0:0.0	.	1168	Q9NS40	KCNH7_HUMAN	Y	1168	ENSP00000331727:H1168Y	ENSP00000331727:H1168Y	H	-	1	0	KCNH7	162936674	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.266000	0.89871	2.558000	0.86282	0.563000	0.77884	CAT		0.413	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	58	0	0	0	0.000602	0	5	58				
SCN2A	6326	broad.mit.edu	37	2	166172032	166172032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:166172032G>T	ENST00000375437.2	+	11	1725	c.1435G>T	c.(1435-1437)Ggg>Tgg	p.G479W	SCN2A_ENST00000283256.6_Missense_Mutation_p.G479W|SCN2A_ENST00000357398.3_Missense_Mutation_p.G479W|SCN2A_ENST00000375427.2_Missense_Mutation_p.G479W	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	479					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G479W(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGTGCTGGTGGGATAGGAGT	0.413																																							uc002udc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(1435-1437)GGG>TGG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						66.0	72.0	70.0					2																	166172032		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166172032G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1435G>T	2.37:g.166172032G>T	ENSP00000364586:p.Gly479Trp					SCN2A_uc002udd.2_Missense_Mutation_p.G479W|SCN2A_uc002ude.2_Missense_Mutation_p.G479W	p.G479W	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			11	1725	+			479					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1435G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.158880	0.57368	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96802	-4.13;-4.08;-4.08;-4.08;-4.08	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000006	D	0.97785	0.9273	L	0.61218	1.895	0.46437	D	0.999042	D;D	0.76494	0.999;0.999	D;D	0.72625	0.947;0.978	D	0.98066	1.0396	10	0.72032	D	0.01	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	479;479	Q99250-2;Q99250	.;SCN2A_HUMAN	W	479	ENSP00000406454:G479W;ENSP00000364586:G479W;ENSP00000349973:G479W;ENSP00000283256:G479W;ENSP00000364576:G479W	ENSP00000283256:G479W	G	+	1	0	SCN2A	165880278	1.000000	0.71417	0.189000	0.23252	0.506000	0.33950	6.398000	0.73244	2.788000	0.95919	0.650000	0.86243	GGG		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		9	110	1	0	1.76689e-08	0.006214	2.4016e-08	9	110				
SCN2A	6326	broad.mit.edu	37	2	166172034	166172034	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:166172034G>T	ENST00000375437.2	+	11	1727	c.1437G>T	c.(1435-1437)ggG>ggT	p.G479G	SCN2A_ENST00000283256.6_Silent_p.G479G|SCN2A_ENST00000357398.3_Silent_p.G479G|SCN2A_ENST00000375427.2_Silent_p.G479G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	479					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G479G(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGCTGGTGGGATAGGAGTTT	0.418																																							uc002udc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(1435-1437)GGG>GGT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						67.0	72.0	70.0					2																	166172034		2203	4299	6502	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166172034G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1437G>T	2.37:g.166172034G>T						SCN2A_uc002udd.2_Silent_p.G479G|SCN2A_uc002ude.2_Silent_p.G479G	p.G479G	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			11	1727	+			479					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.1437G>T	CCDS33314.1																																																																																				0.418	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		7	114	1	0	1.06961e-07	0.00308	1.40907e-07	7	114				
XIRP2	129446	broad.mit.edu	37	2	168099305	168099305	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:168099305C>A	ENST00000409195.1	+	9	1492	c.1403C>A	c.(1402-1404)gCa>gAa	p.A468E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A246E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A468E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	293					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A468E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTGACAGCATTTTCCCAG	0.428																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(1402-1404)GCA>GAA		xin actin-binding repeat containing 2 isoform 1							86.0	81.0	82.0					2																	168099305		1899	4107	6006	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099305C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1403C>A	2.37:g.168099305C>A	ENSP00000386840:p.Ala468Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A293E|XIRP2_uc010fpq.2_Missense_Mutation_p.A246E|XIRP2_uc010fpr.2_Intron	p.A468E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1421	+			293					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1403C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026828	0.54683	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02656	4.21;4.21;4.21	5.59	3.74	0.42951	.	0.560633	0.17793	N	0.161831	T	0.07234	0.0183	L	0.59436	1.845	0.43099	D	0.994781	D;D;B	0.63046	0.961;0.992;0.383	P;P;B	0.59357	0.617;0.856;0.081	T	0.33137	-0.9880	10	0.54805	T	0.06	-10.2624	1.9094	0.03284	0.2831:0.4267:0.1373:0.1528	.	293;293;246	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	468;468;246	ENSP00000386840:A468E;ENSP00000295237:A468E;ENSP00000387255:A246E	ENSP00000295237:A468E	A	+	2	0	XIRP2	167807551	0.829000	0.29322	1.000000	0.80357	0.989000	0.77384	1.031000	0.30165	0.675000	0.31264	0.655000	0.94253	GCA		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		25	65	1	0	4.59853e-10	0.005443	6.63084e-10	25	65				
LRP2	4036	broad.mit.edu	37	2	170012818	170012818	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:170012818C>T	ENST00000263816.3	-	65	12402	c.12117G>A	c.(12115-12117)atG>atA	p.M4039I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4039	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.M4039I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGCGGTCACTCATAGACGTGA	0.433																																							uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12115-12117)ATG>ATA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						185.0	170.0	175.0					2																	170012818		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170012818C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12117G>A	2.37:g.170012818C>T	ENSP00000263816:p.Met4039Ile						p.M4039I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	65	12330	-			4039			EGF-like 15; calcium-binding (Potential).|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12117G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976814	0.34848	.	.	ENSG00000081479	ENST00000263816	D	0.89123	-2.47	5.77	4.89	0.63831	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.666605	0.16432	N	0.214683	T	0.78310	0.4263	N	0.16708	0.43	0.80722	D	1	B	0.13145	0.007	B	0.10450	0.005	T	0.71543	-0.4561	10	0.36615	T	0.2	.	5.7651	0.18221	0.243:0.5688:0.1204:0.0677	.	4039	P98164	LRP2_HUMAN	I	4039	ENSP00000263816:M4039I	ENSP00000263816:M4039I	M	-	3	0	LRP2	169721064	0.989000	0.36119	0.066000	0.19879	0.197000	0.23852	0.629000	0.24538	1.549000	0.49425	0.655000	0.94253	ATG		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	122	0	0	0	0.008291	0	10	122				
LRP2	4036	broad.mit.edu	37	2	170163811	170163811	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:170163811C>G	ENST00000263816.3	-	4	692	c.407G>C	c.(406-408)gGa>gCa	p.G136A	LRP2_ENST00000443831.1_Missense_Mutation_p.G136A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	136	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G136A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTCATCAGCTCCATCGGGGCA	0.448																																							uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(406-408)GGA>GCA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						147.0	110.0	123.0					2																	170163811		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170163811C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.407G>C	2.37:g.170163811C>G	ENSP00000263816:p.Gly136Ala					LRP2_uc010zdf.1_Missense_Mutation_p.G136A	p.G136A	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	4	620	-			136			Extracellular (Potential).|LDL-receptor class A 3.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.407G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240220	0.39598	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96396	-4.0;-4.0	5.25	4.27	0.50696	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Epidermal growth factor-like (1);	0.054385	0.64402	D	0.000001	D	0.97198	0.9084	M	0.80028	2.48	0.53688	D	0.999973	D;P	0.55800	0.973;0.812	P;P	0.58077	0.832;0.453	D	0.96627	0.9464	9	.	.	.	.	11.1177	0.48270	0.0:0.8392:0.0:0.1608	.	136;136	E9PC35;P98164	.;LRP2_HUMAN	A	136	ENSP00000263816:G136A;ENSP00000409813:G136A	.	G	-	2	0	LRP2	169872057	1.000000	0.71417	0.318000	0.25279	0.044000	0.14063	1.754000	0.38369	1.176000	0.42840	0.557000	0.71058	GGA		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		7	108	0	0	0	0.001984	0	7	108				
GAD1	2571	broad.mit.edu	37	2	171715317	171715317	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:171715317G>C	ENST00000358196.3	+	16	2075	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	509					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.E509Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TCTGCAGCCTGAGCACACAAA	0.443																																							uc002ugi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1525-1527)GAG>CAG		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						77.0	76.0	76.0					2																	171715317		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171715317G>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1525G>C	2.37:g.171715317G>C	ENSP00000350928:p.Glu509Gln					GAD1_uc010fqc.2_Missense_Mutation_p.E128Q	p.E509Q	NM_000817	NP_000808	Q99259	DCE1_HUMAN			16	1947	+			509					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1525G>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504814	0.64410	.	.	ENSG00000128683	ENST00000358196	T	0.38722	1.12	5.53	5.53	0.82687	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.050424	0.85682	D	0.000000	T	0.38188	0.1031	N	0.25144	0.715	0.80722	D	1	B	0.28178	0.202	B	0.36378	0.223	T	0.14868	-1.0457	10	0.33940	T	0.23	-22.0978	19.4586	0.94906	0.0:0.0:1.0:0.0	.	509	Q99259	DCE1_HUMAN	Q	509	ENSP00000350928:E509Q	ENSP00000350928:E509Q	E	+	1	0	GAD1	171423563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.816000	0.69222	2.579000	0.87056	0.655000	0.94253	GAG		0.443	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			16	46	0	0	0	0.006122	0	16	46				
RAPGEF4	11069	broad.mit.edu	37	2	173825890	173825890	+	Missense_Mutation	SNP	G	G	C	rs200268023		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:173825890G>C	ENST00000397081.3	+	8	775	c.632G>C	c.(631-633)cGa>cCa	p.R211P	RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R211P|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R67P|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R40P|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R210P|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R58P|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R58P	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	211					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R211P(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AAAATTTTACGAAATGCCATT	0.428																																							uc002uhv.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(631-633)CGA>CCA		Rap guanine nucleotide exchange factor (GEF) 4							132.0	131.0	131.0					2																	173825890		1843	4091	5934	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173825890G>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.632G>C	2.37:g.173825890G>C	ENSP00000380271:p.Arg211Pro					RAPGEF4_uc002uhu.2_Missense_Mutation_p.R211P|RAPGEF4_uc002uhw.3_Missense_Mutation_p.R67P|RAPGEF4_uc010zec.1_Missense_Mutation_p.R58P|RAPGEF4_uc010zed.1_Missense_Mutation_p.R40P|RAPGEF4_uc010zee.1_Missense_Mutation_p.R58P|RAPGEF4_uc010fqo.2_Missense_Mutation_p.R40P|RAPGEF4_uc010zef.1_5'UTR|RAPGEF4_uc010zeg.1_Missense_Mutation_p.R38P|RAPGEF4_uc010fqp.1_5'UTR|RAPGEF4_uc010zeh.1_5'UTR	p.R211P	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		8	819	+			211					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.632G>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839427	0.91117	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.79	5.79	0.91817	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.126462	0.53938	D	0.000043	T	0.35038	0.0918	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.981;0.999;0.98;0.979;0.997	T	0.03443	-1.1036	10	0.72032	D	0.01	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	38;40;67;211;211	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	P	210;211;211;67;40;58;58;38	ENSP00000264111:R210P;ENSP00000380271:R211P;ENSP00000387104:R211P;ENSP00000380276:R67P;ENSP00000440135:R40P;ENSP00000440250:R58P;ENSP00000437384:R58P	ENSP00000264111:R210P	R	+	2	0	RAPGEF4	173534136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.859000	0.99545	2.733000	0.93635	0.655000	0.94253	CGA		0.428	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		8	186	0	0	0	0.008291	0	8	186				
SCRN3	79634	broad.mit.edu	37	2	175292567	175292567	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:175292567A>G	ENST00000272732.6	+	8	1301	c.1219A>G	c.(1219-1221)Aca>Gca	p.T407A	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.T400A	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	407							dipeptidase activity (GO:0016805)	p.T400A(1)|p.T407A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TCCTCAGTGTACAAAAGATGA	0.333																																							uc002uiq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1219-1221)ACA>GCA		secernin 3							78.0	77.0	78.0					2																	175292567		2203	4295	6498	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175292567A>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1219A>G	2.37:g.175292567A>G	ENSP00000272732:p.Thr407Ala					SCRN3_uc010zen.1_Missense_Mutation_p.T400A|SCRN3_uc010zeo.1_Missense_Mutation_p.T205A|SCRN3_uc002uis.2_Missense_Mutation_p.T149A	p.T407A	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		8	1307	+			407					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.1219A>G	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400959	0.42613	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.07800	3.16;3.17	5.63	-4.8	0.03190	.	0.697835	0.14187	N	0.335659	T	0.03520	0.0101	N	0.02011	-0.69	0.20074	N	0.999939	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34976	-0.9807	10	0.66056	D	0.02	0.4531	17.5027	0.87736	0.3429:0.0:0.6571:0.0	.	400;407	B4DI11;Q0VDG4	.;SCRN3_HUMAN	A	400;407	ENSP00000387142:T400A;ENSP00000272732:T407A	ENSP00000272732:T407A	T	+	1	0	SCRN3	175000813	0.998000	0.40836	0.573000	0.28510	0.772000	0.43724	0.383000	0.20651	-0.811000	0.04369	-0.290000	0.09829	ACA		0.333	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		3	57	0	0	0	0.004672	0	3	57				
HOXD13	3239	broad.mit.edu	37	2	176958400	176958400	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:176958400G>T	ENST00000392539.3	+	1	781		c.e1+1			NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13						anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TCCTTTCCAGGTAGGGGCGAT	0.567			T	NUP98	AML*																																		uc002ukf.1		NA		Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		2	Unknown(2)		lung(2)	lung(1)	1						c.e1+1		homeobox D13							19.0	22.0	21.0					2																	176958400		2161	4269	6430	SO:0001630	splice_region_variant	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176958400G>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.781+1G>T	2.37:g.176958400G>T							p.G261_splice	NM_000523	NP_000514	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	868	+									Splice_Site	SNP	ENST00000392539.3	37	c.781_splice	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260019	0.80246	.	.	ENSG00000128714	ENST00000392539	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6968	0.88283	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HOXD13	176666646	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.232000	0.95325	2.403000	0.81681	0.563000	0.77884	.		0.567	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1		Intron	10	39	1	0	1.76689e-08	0.006214	2.4016e-08	10	39				
TTN	7273	broad.mit.edu	37	2	179398288	179398288	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179398288G>T	ENST00000591111.1	-	308	98355	c.98131C>A	c.(98131-98133)Cta>Ata	p.L32711I	TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25479I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L31784I|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L25287I|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L25412I|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L34352I|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32711					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L25479I(1)|p.L31782I(1)|p.L25412I(1)|p.L25287I(1)|p.L31784I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGGTGTAGGGTTACTGTC	0.433																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(95350-95352)CTA>ATA		titin isoform N2-A							124.0	109.0	114.0					2																	179398288		1977	4178	6155	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398288G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98131C>A	2.37:g.179398288G>T	ENSP00000465570:p.Leu32711Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L25479I|TTN_uc010zfi.1_Missense_Mutation_p.L25412I|TTN_uc010zfj.1_Missense_Mutation_p.L25287I	p.L31784I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	95574	-			32711					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95350C>A		.	.	.	.	.	.	.	.	.	.	G	11.96	1.794806	0.31777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.74	3.93	0.45458	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23965	0.0580	L	0.42245	1.32	0.28211	N	0.926949	B;B;B;B	0.21147	0.052;0.052;0.052;0.052	B;B;B;B	0.20184	0.015;0.015;0.028;0.028	T	0.17289	-1.0374	9	0.87932	D	0	.	10.6897	0.45864	0.1553:0.0:0.8447:0.0	.	25287;25412;25479;32711	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	31784;25287;25479;25412;25284	ENSP00000343764:L31784I;ENSP00000434586:L25287I;ENSP00000340554:L25479I;ENSP00000352154:L25412I	ENSP00000340554:L25479I	L	-	1	2	TTN	179106534	1.000000	0.71417	0.997000	0.53966	0.475000	0.33008	5.540000	0.67205	0.762000	0.33152	0.561000	0.74099	CTA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	48	1	0	1.5548e-18	0.005443	2.64866e-18	29	48				
TTN	7273	broad.mit.edu	37	2	179411856	179411856	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179411856A>T	ENST00000591111.1	-	290	89697	c.89473T>A	c.(89473-89475)Tgc>Agc	p.C29825S	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C22593S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C28898S|TTN_ENST00000460472.2_Missense_Mutation_p.C22401S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C22526S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C31466S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29825	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C22526R(1)|p.C22526S(1)|p.C28898S(1)|p.C28896S(1)|p.C28896R(1)|p.C22593S(1)|p.C22593R(1)|p.C28898R(1)|p.C22401S(1)|p.C22401R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTAGTTGCACTCTAAGCAT	0.423																																							uc010zfg.1		NA																	10	Substitution - Missense(10)		lung(5)|endometrium(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86692-86694)TGC>AGC		titin isoform N2-A							318.0	312.0	314.0					2																	179411856		1916	4131	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411856A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89473T>A	2.37:g.179411856A>T	ENSP00000465570:p.Cys29825Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C22593S|TTN_uc010zfi.1_Missense_Mutation_p.C22526S|TTN_uc010zfj.1_Missense_Mutation_p.C22401S	p.C28898S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	86916	-			29825					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86692T>A		.	.	.	.	.	.	.	.	.	.	A	17.12	3.309207	0.60414	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63988	0.2558	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.65952	-0.6043	9	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	22401;22526;22593;29825	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28898;22401;22593;22526;22398	ENSP00000343764:C28898S;ENSP00000434586:C22401S;ENSP00000340554:C22593S;ENSP00000352154:C22526S	ENSP00000340554:C22593S	C	-	1	0	TTN	179120102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.302000	0.77476	0.533000	0.62120	TGC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	436	0	0	0	0.00361	0	45	436				
TTN	7273	broad.mit.edu	37	2	179431857	179431857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179431857C>T	ENST00000591111.1	-	276	74303	c.74079G>A	c.(74077-74079)tgG>tgA	p.W24693*	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W17461*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W23766*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W17269*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W17394*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W26334*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24693	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.W23764*(1)|p.W23766*(1)|p.W17394*(1)|p.W17269*(1)|p.W17461*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAACAGTCCAGGCAAGTC	0.398																																							uc010zfg.1		NA																	5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71296-71298)TGG>TGA		titin isoform N2-A							108.0	109.0	109.0					2																	179431857		1889	4110	5999	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431857C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74079G>A	2.37:g.179431857C>T	ENSP00000465570:p.Trp24693*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W17461*|TTN_uc010zfi.1_Nonsense_Mutation_p.W17394*|TTN_uc010zfj.1_Nonsense_Mutation_p.W17269*	p.W23766*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71522	-			24693					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.71298G>A		.	.	.	.	.	.	.	.	.	.	C	64	79.718403	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4392	0.94811	0.0:1.0:0.0:0.0	.	.	.	.	X	23766;17269;17461;17394;17267	.	ENSP00000340554:W17461X	W	-	3	0	TTN	179140103	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.580000	0.87095	0.462000	0.41574	TGG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		75	103	0	0	0	0.00361	0	75	103				
TTN	7273	broad.mit.edu	37	2	179473146	179473146	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179473146T>A	ENST00000591111.1	-	225	47765	c.47541A>T	c.(47539-47541)ctA>ctT	p.L15847L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L8615L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L14920L|TTN_ENST00000460472.2_Silent_p.L8423L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.L8548L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L17488L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15847	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L14920L(2)|p.L8423L(1)|p.L8615L(1)|p.L8548L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATTTCACTAGCATACTGT	0.388																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44758-44760)CTA>CTT		titin isoform N2-A							45.0	39.0	41.0					2																	179473146		1870	4106	5976	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179473146T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47541A>T	2.37:g.179473146T>A						uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8615L|TTN_uc010zfi.1_Silent_p.L8548L|TTN_uc010zfj.1_Silent_p.L8423L	p.L14920L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		224	44984	-			15847					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.44760A>T																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	23	0	0	0	0.004482	0	9	23				
TTN	7273	broad.mit.edu	37	2	179494983	179494983	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179494983G>T	ENST00000591111.1	-	189	39567	c.39343C>A	c.(39343-39345)Cac>Aac	p.H13115N	TTN_ENST00000342175.6_Missense_Mutation_p.H5883N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12188N|TTN_ENST00000460472.2_Missense_Mutation_p.H5691N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H5816N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H14756N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13115					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H12188N(2)|p.H5883N(1)|p.H5691N(1)|p.H5816N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCGGAGGTGGGCACTAGAT	0.388																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(36562-36564)CAC>AAC		titin isoform N2-A							92.0	94.0	93.0					2																	179494983		1850	4087	5937	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179494983G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39343C>A	2.37:g.179494983G>T	ENSP00000465570:p.His13115Asn					TTN_uc010zfh.1_Missense_Mutation_p.H5883N|TTN_uc010zfi.1_Missense_Mutation_p.H5816N|TTN_uc010zfj.1_Missense_Mutation_p.H5691N	p.H12188N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		188	36786	-			13115					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36562C>A		.	.	.	.	.	.	.	.	.	.	G	14.73	2.622476	0.46840	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17408	0.0418	N	0.02181	-0.65	0.46927	D	0.99925	P;P;P;P	0.44734	0.842;0.842;0.842;0.828	B;B;B;B	0.33750	0.169;0.169;0.169;0.169	T	0.30765	-0.9967	9	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	5691;5816;5883;13115	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	12188;5691;5883;5816;5691	ENSP00000343764:H12188N;ENSP00000434586:H5691N;ENSP00000340554:H5883N;ENSP00000352154:H5816N	ENSP00000340554:H5883N	H	-	1	0	TTN	179203228	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.339000	0.65953	2.873000	0.98535	0.563000	0.77884	CAC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	83	1	0	4.02871e-13	0.00361	6.26688e-13	44	83				
TTN	7273	broad.mit.edu	37	2	179516903	179516903	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179516903G>T	ENST00000591111.1	-	159	34918	c.34694C>A	c.(34693-34695)cCa>cAa	p.P11565Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10638Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P13072Q|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11565	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P10638Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCACCTCTGGGACTTTAAA	0.408																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(31912-31914)CCA>CAA		titin isoform N2-A							98.0	95.0	96.0					2																	179516903		1804	4072	5876	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516903G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34694C>A	2.37:g.179516903G>T	ENSP00000465570:p.Pro11565Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	p.P10638Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		158	32137	-			11565					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31913C>A		.	.	.	.	.	.	.	.	.	.	G	10.62	1.401519	0.25291	.	.	ENSG00000155657	ENST00000342992	T	0.70282	-0.47	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.83751	0.5322	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.86044	0.1521	9	0.87932	D	0	.	13.8668	0.63594	0.0:0.0:1.0:0.0	.	11565	Q8WZ42	TITIN_HUMAN	Q	10638	ENSP00000343764:P10638Q	ENSP00000343764:P10638Q	P	-	2	0	TTN	179225148	0.996000	0.38824	0.743000	0.31040	0.439000	0.31926	3.758000	0.55220	2.421000	0.82119	0.557000	0.71058	CCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		68	120	1	0	2.02627e-32	0.00361	3.80544e-32	68	120				
TTN	7273	broad.mit.edu	37	2	179583950	179583950	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179583950G>T	ENST00000591111.1	-	81	23440	c.23216C>A	c.(23215-23217)aCg>aAg	p.T7739K	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6812K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T8056K			Q8WZ42	TITIN_HUMAN	titin	13282	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T6812K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCACACACGTGTATATGCC	0.498																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(20434-20436)ACG>AAG		titin isoform N2-A							69.0	75.0	73.0					2																	179583950		2052	4197	6249	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583950G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23216C>A	2.37:g.179583950G>T	ENSP00000465570:p.Thr7739Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3473K	p.T6812K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		80	20659	-			7739					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20435C>A		.	.	.	.	.	.	.	.	.	.	G	13.06	2.125479	0.37533	.	.	ENSG00000155657	ENST00000342992	T	0.48201	0.82	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53351	0.1791	L	0.60067	1.865	0.80722	D	1	P	0.46277	0.875	B	0.43728	0.429	T	0.57112	-0.7867	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	7739	Q8WZ42	TITIN_HUMAN	K	6812	ENSP00000343764:T6812K	ENSP00000343764:T6812K	T	-	2	0	TTN	179292195	0.988000	0.35896	0.976000	0.42696	0.982000	0.71751	1.850000	0.39328	2.941000	0.99782	0.655000	0.94253	ACG		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	55	1	0	2.13384e-23	0.00361	3.79021e-23	49	55				
TTN	7273	broad.mit.edu	37	2	179602947	179602947	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179602947T>A	ENST00000591111.1	-	47	13506	c.13282A>T	c.(13282-13284)Aag>Tag	p.K4428*	TTN_ENST00000342175.6_Nonsense_Mutation_p.K4574*|TTN_ENST00000342992.6_Nonsense_Mutation_p.K3501*|TTN_ENST00000460472.2_Nonsense_Mutation_p.K4382*|TTN_ENST00000359218.5_Nonsense_Mutation_p.K4507*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.K4745*|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12184	Ig-like 24.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K3501*(2)|p.K4574*(1)|p.K4382*(1)|p.K4507*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGAACACTTGTCACTCTCA	0.468																																							uc010zfg.1		NA																	5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10501-10503)AAG>TAG		titin isoform N2-A							65.0	62.0	63.0					2																	179602947		1867	4106	5973	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179602947T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13282A>T	2.37:g.179602947T>A	ENSP00000465570:p.Lys4428*					TTN_uc010zfh.1_Nonsense_Mutation_p.K4574*|TTN_uc010zfi.1_Nonsense_Mutation_p.K4507*|TTN_uc010zfj.1_Nonsense_Mutation_p.K4382*|TTN_uc002umz.1_Nonsense_Mutation_p.K162*	p.K3501*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10725	-			4428					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.10501A>T		.	.	.	.	.	.	.	.	.	.	T	56	25.838501	0.99966	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9146	0.79503	0.0:0.0:0.0:1.0	.	.	.	.	X	3501;4382;4574;4507;4382	.	ENSP00000340554:K4574X	K	-	1	0	TTN	179311192	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.172000	0.68678	0.379000	0.24179	AAG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	33	0	0	0	0.003163	0	14	33				
TTN	7273	broad.mit.edu	37	2	179611108	179611108	+	Intron	SNP	T	T	C	rs201453356		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179611108T>C	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.H5340R			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATACTTTTATGGTCAGGAGT	0.338																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16018-16020)CAT>CGT		titin isoform novex-3		T	,,ARG/HIS,,	0,4406		0,0,2203	56.0	51.0	52.0		,,16019,,	5.9	1.0	2		52	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,29,,	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	,,,,	,,5340/5605,,	179611108	1,13003	2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611108T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4460A>G	2.37:g.179611108T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.H5340R	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16243	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16019A>G		.	.	.	.	.	.	.	.	.	.	T	14.95	2.688604	0.48097	0.0	1.16E-4	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60299	0.2	5.88	5.88	0.94601	.	.	.	.	.	T	0.67163	0.2864	L	0.51422	1.61	0.80722	D	1	D	0.58268	0.982	D	0.75484	0.986	T	0.62863	-0.6764	9	0.18710	T	0.47	.	11.3508	0.49587	0.0:0.0701:0.0:0.9299	.	5340	Q8WZ42-6	.	R	5340;621	ENSP00000354117:H5340R	ENSP00000304714:H621R	H	-	2	0	TTN	179319353	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.171000	0.64996	2.246000	0.74042	0.533000	0.62120	CAT		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	32	0	0	0	0.00278	0	22	32				
TTN	7273	broad.mit.edu	37	2	179613326	179613326	+	Intron	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179613326C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A4601P			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAAAATAAGCTTCTTCTGGT	0.348																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13801-13803)GCT>CCT		titin isoform novex-3							127.0	136.0	133.0					2																	179613326		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613326C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4524G>C	2.37:g.179613326C>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.A4601P	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14025	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13801G>C		.	.	.	.	.	.	.	.	.	.	C	13.89	2.371107	0.42003	.	.	ENSG00000155657	ENST00000360870	T	0.58358	0.34	5.59	-2.34	0.06704	.	.	.	.	.	T	0.30947	0.0781	N	0.14661	0.345	0.09310	N	1	P	0.40794	0.729	B	0.35607	0.206	T	0.16689	-1.0394	9	0.52906	T	0.07	.	10.9092	0.47099	0.0:0.4809:0.0:0.5191	.	4601	Q8WZ42-6	.	P	4601	ENSP00000354117:A4601P	ENSP00000354117:A4601P	A	-	1	0	TTN	179321571	0.000000	0.05858	0.002000	0.10522	0.360000	0.29518	-0.626000	0.05527	-0.442000	0.07190	-0.142000	0.14014	GCT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	136	0	0	0	0.008361	0	31	136				
TTN	7273	broad.mit.edu	37	2	179664422	179664422	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:179664422T>C	ENST00000591111.1	-	6	930	c.706A>G	c.(706-708)Aca>Gca	p.T236A	TTN_ENST00000342175.6_Missense_Mutation_p.T236A|TTN_ENST00000342992.6_Missense_Mutation_p.T236A|TTN_ENST00000460472.2_Missense_Mutation_p.T236A|TTN_ENST00000359218.5_Missense_Mutation_p.T236A|TTN_ENST00000589042.1_Missense_Mutation_p.T236A|TTN_ENST00000360870.5_Missense_Mutation_p.T236A			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T236A(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCAACTGTTGCAATTGAT	0.493																																							uc002und.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(706-708)ACA>GCA		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							87.0	86.0	86.0					2																	179664422		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664422T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.706A>G	2.37:g.179664422T>C	ENSP00000465570:p.Thr236Ala					TTN_uc010zfg.1_Missense_Mutation_p.T236A|TTN_uc010zfh.1_Missense_Mutation_p.T236A|TTN_uc010zfi.1_Missense_Mutation_p.T236A|TTN_uc010zfj.1_Missense_Mutation_p.T236A|TTN_uc002unb.2_Missense_Mutation_p.T236A	p.T236A			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	931	-			236					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.706A>G		.	.	.	.	.	.	.	.	.	.	T	16.39	3.109060	0.56398	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.13;0.11;0.1;0.26	6.02	3.57	0.40892	.	.	.	.	.	T	0.50956	0.1646	L	0.38531	1.155	0.21147	N	0.99977	B;B;B;B;B	0.10296	0.0;0.0;0.0;0.0;0.003	B;B;B;B;B	0.11329	0.001;0.001;0.001;0.001;0.006	T	0.48714	-0.9011	9	0.87932	D	0	.	8.2502	0.31712	0.1192:0.0648:0.0:0.816	.	236;236;236;236;236	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	A	236	ENSP00000343764:T236A;ENSP00000434586:T236A;ENSP00000340554:T236A;ENSP00000352154:T236A;ENSP00000354117:T236A	ENSP00000340554:T236A	T	-	1	0	TTN	179372667	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.496000	0.45346	1.108000	0.41662	0.533000	0.62120	ACA		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	67	0	0	0	0.003163	0	14	67				
NUP35	129401	broad.mit.edu	37	2	183993024	183993024	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:183993024C>T	ENST00000295119.4	+	2	153	c.50C>T	c.(49-51)cCa>cTa	p.P17L	NUP35_ENST00000409798.1_5'UTR|NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000497330.1_3'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	17					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P17L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GGATCTGAACCAATGATGCTG	0.388																																							uc002upf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(49-51)CCA>CTA		nucleoporin 35kDa							63.0	61.0	62.0					2																	183993024		2203	4300	6503	SO:0001583	missense	129401				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		g.chr2:183993024C>T	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.50C>T	2.37:g.183993024C>T	ENSP00000295119:p.Pro17Leu					NUP35_uc010zfs.1_5'UTR|NUP35_uc010zft.1_5'UTR|NUP35_uc002upg.2_RNA	p.P17L	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN			2	153	+			17					B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	ENST00000295119.4	37	c.50C>T	CCDS2290.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165811	0.94768	.	.	ENSG00000163002	ENST00000295119	T	0.43688	0.94	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	M	0.82323	2.585	0.80722	D	1	D	0.56035	0.974	P	0.53450	0.726	T	0.67914	-0.5547	10	0.59425	D	0.04	.	18.8676	0.92300	0.0:1.0:0.0:0.0	.	17	Q8NFH5	NUP53_HUMAN	L	17	ENSP00000295119:P17L	ENSP00000295119:P17L	P	+	2	0	NUP35	183701269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.331000	0.79192	2.623000	0.88846	0.591000	0.81541	CCA		0.388	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1	NM_138285		4	53	0	0	0	0.000602	0	4	53				
FAM171B	165215	broad.mit.edu	37	2	187626951	187626951	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:187626951C>A	ENST00000304698.5	+	8	2085	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	628						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L628M(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCAGCTTACTGGAATCCGT	0.493																																							uc002ups.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(1882-1884)CTG>ATG		KIAA1946							90.0	98.0	95.0					2																	187626951		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626951C>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1882C>A	2.37:g.187626951C>A	ENSP00000304108:p.Leu628Met					FAM171B_uc002upr.1_Missense_Mutation_p.L595M|FAM171B_uc002upt.2_Missense_Mutation_p.L97M	p.L628M	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	1994	+			628			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1882C>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984856	0.35036	.	.	ENSG00000144369	ENST00000304698	T	0.31510	1.49	6.03	3.47	0.39725	.	0.151401	0.45867	D	0.000336	T	0.42131	0.1189	L	0.40543	1.245	0.36800	D	0.885322	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.46638	-0.9177	10	0.52906	T	0.07	-11.622	9.3476	0.38118	0.0:0.6517:0.0:0.3483	.	628;629	Q6P995;A8K122	F171B_HUMAN;.	M	628	ENSP00000304108:L628M	ENSP00000304108:L628M	L	+	1	2	FAM171B	187335196	0.613000	0.27009	0.953000	0.39169	0.792000	0.44763	1.129000	0.31381	1.204000	0.43247	0.655000	0.94253	CTG		0.493	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		40	78	1	0	1.03325e-14	0.002852	1.67318e-14	40	78				
FAM171B	165215	broad.mit.edu	37	2	187627260	187627260	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:187627260C>A	ENST00000304698.5	+	8	2394	c.2191C>A	c.(2191-2193)Cat>Aat	p.H731N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	731						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.H731N(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAAAAGCATGCATCAGCCCAA	0.483																																							uc002ups.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2191-2193)CAT>AAT		KIAA1946							85.0	90.0	88.0					2																	187627260		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187627260C>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2191C>A	2.37:g.187627260C>A	ENSP00000304108:p.His731Asn					FAM171B_uc002upr.1_Missense_Mutation_p.H698N|FAM171B_uc002upt.2_Missense_Mutation_p.H200N	p.H731N	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2303	+			731			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.2191C>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767492	0.49574	.	.	ENSG00000144369	ENST00000304698	T	0.29655	1.56	6.02	6.02	0.97574	.	0.114506	0.64402	D	0.000013	T	0.27731	0.0682	L	0.34521	1.04	0.40217	D	0.977698	P;P	0.43231	0.801;0.801	B;B	0.43225	0.412;0.412	T	0.01795	-1.1272	10	0.30078	T	0.28	-20.0508	13.7061	0.62639	0.0:0.93:0.0:0.07	.	731;732	Q6P995;A8K122	F171B_HUMAN;.	N	731	ENSP00000304108:H731N	ENSP00000304108:H731N	H	+	1	0	FAM171B	187335505	0.896000	0.30565	1.000000	0.80357	0.997000	0.91878	2.819000	0.48049	2.850000	0.98022	0.650000	0.86243	CAT		0.483	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		43	92	1	0	1.89013e-27	0.00361	3.44066e-27	43	92				
CALCRL	10203	broad.mit.edu	37	2	188250312	188250312	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:188250312T>C	ENST00000409998.1	-	5	792	c.11A>G	c.(10-12)aAg>aGg	p.K4R	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.K4R|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.K4R			Q16602	CALRL_HUMAN	calcitonin receptor-like	4					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.K4R(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CAGGGTACACTTTTTCTCCAT	0.264																																							uc002upv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(10-12)AAG>AGG		calcitonin receptor-like precursor							36.0	38.0	37.0					2																	188250312		2197	4271	6468	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188250312T>C	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.11A>G	2.37:g.188250312T>C	ENSP00000386972:p.Lys4Arg					CALCRL_uc010frt.2_Missense_Mutation_p.K4R	p.K4R	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		4	559	-			4					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.11A>G	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	T	2.094	-0.407733	0.04832	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068;ENST00000447403;ENST00000410102	T;T;T;T;T	0.57907	0.97;0.97;0.97;1.44;0.37	5.81	-1.5	0.08691	.	0.452400	0.20030	N	0.100734	T	0.20210	0.0486	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10474	-1.0628	10	0.11794	T	0.64	.	1.4514	0.02376	0.1361:0.2588:0.1398:0.4653	.	4	Q16602	CALRL_HUMAN	R	4	ENSP00000376177:K4R;ENSP00000386972:K4R;ENSP00000387190:K4R;ENSP00000415626:K4R;ENSP00000386599:K4R	ENSP00000376177:K4R	K	-	2	0	CALCRL	187958557	0.063000	0.20901	0.076000	0.20297	0.257000	0.26127	0.040000	0.13905	-0.124000	0.11724	0.482000	0.46254	AAG		0.264	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		3	37	0	0	0	0.004672	0	3	37				
SGOL2	151246	broad.mit.edu	37	2	201437779	201437779	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:201437779A>T	ENST00000357799.4	+	7	2808	c.2710A>T	c.(2710-2712)Aat>Tat	p.N904Y		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	904					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.N904Y(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATCAAAAATAAATAAGCTCAG	0.303																																							uc002uvw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2710-2712)AAT>TAT		shugoshin-like 2 isoform 1							73.0	76.0	75.0					2																	201437779		1786	4019	5805	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437779A>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2710A>T	2.37:g.201437779A>T	ENSP00000350447:p.Asn904Tyr					SGOL2_uc010zhd.1_Missense_Mutation_p.N904Y|SGOL2_uc010zhe.1_Missense_Mutation_p.N904Y	p.N904Y	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	2823	+			904					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2710A>T	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	8.766	0.924733	0.18056	.	.	ENSG00000163535	ENST00000357799	T	0.14893	2.47	4.99	2.54	0.30619	.	0.703054	0.12960	N	0.425103	T	0.28928	0.0718	L	0.51422	1.61	0.09310	N	1	D;D;P	0.76494	0.999;0.999;0.95	D;D;P	0.65874	0.939;0.939;0.715	T	0.09100	-1.0690	10	0.66056	D	0.02	-3.7323	4.9614	0.14068	0.7184:0.186:0.0956:0.0	.	904;904;904	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	Y	904	ENSP00000350447:N904Y	ENSP00000350447:N904Y	N	+	1	0	SGOL2	201146024	0.443000	0.25641	0.005000	0.12908	0.175000	0.22909	0.320000	0.19540	0.367000	0.24454	0.477000	0.44152	AAT		0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		12	195	0	0	0	0.000978	0	12	195				
TMEM237	65062	broad.mit.edu	37	2	202494490	202494490	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:202494490G>A	ENST00000409883.2	-	8	755	c.639C>T	c.(637-639)acC>acT	p.T213T	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409444.2_Silent_p.T205T	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	213					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T213T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CATCTCTGGTGGTCCAGGAAG	0.423																																							uc002uyh.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)ACC>ACT		amyotrophic lateral sclerosis 2 (juvenile)							109.0	110.0	109.0					2																	202494490		1906	4116	6022	SO:0001819	synonymous_variant	65062					integral to membrane	protein binding	g.chr2:202494490G>A	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.639C>T	2.37:g.202494490G>A						ALS2CR4_uc002uyg.1_Silent_p.T205T|ALS2CR4_uc010zho.1_Silent_p.T8T|ALS2CR4_uc010zhp.1_RNA	p.T213T	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN			9	740	-			237					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Silent	SNP	ENST00000409883.2	37	c.639C>T	CCDS46489.1																																																																																				0.423	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		46	66	0	0	0	0.00361	0	46	66				
CRYGD	1421	broad.mit.edu	37	2	208988977	208988977	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:208988977G>T	ENST00000264376.4	-	2	138	c.111C>A	c.(109-111)cgC>cgA	p.R37R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	37	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.		R -> S (in CTRCT4; very low solubility; crystallizes spontaneously). {ECO:0000269|PubMed:10915766}.		cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.R37R(1)		breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGCTGTCCACGCGCGCCGAGT	0.652																																							uc002vcn.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)CGC>CGA		crystallin, gamma D							11.0	13.0	12.0					2																	208988977		2171	4260	6431	SO:0001819	synonymous_variant	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208988977G>T		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.111C>A	2.37:g.208988977G>T							p.R37R	NM_006891	NP_008822	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	227	-			37		R -> S (in a patient with cataract; very low solubility; crystallizes spontaneously).	Beta/gamma crystallin 'Greek key' 1.		Q17RF7|Q53R51|Q99681	Silent	SNP	ENST00000264376.4	37	c.111C>A	CCDS2378.1																																																																																				0.652	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		7	13	1	0	0.00198382	0.001984	0.00218689	7	13				
MAP2	4133	broad.mit.edu	37	2	210558918	210558918	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:210558918G>T	ENST00000360351.4	+	7	2530	c.2024G>T	c.(2023-2025)aGt>aTt	p.S675I	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S671I|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	675					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S675I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GACCTCCACAGTAAGAATAAG	0.413																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2023-2025)AGT>ATT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						144.0	140.0	141.0					2																	210558918		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558918G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2024G>T	2.37:g.210558918G>T	ENSP00000353508:p.Ser675Ile					MAP2_uc002vdc.1_Missense_Mutation_p.S675I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S671I	p.S675I	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2272	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	675					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2024G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934076	0.52866	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25414	1.8;1.8	6.16	6.16	0.99307	MAP2/Tau projection (1);	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.59436	1.845	0.47245	D	0.999361	D;D	0.89917	1.0;1.0	D;D	0.75020	0.974;0.985	T	0.34329	-0.9833	10	0.87932	D	0	-13.461	14.9398	0.70983	0.0675:0.0:0.9325:0.0	.	671;675	P11137-3;P11137	.;MAP2_HUMAN	I	675;671	ENSP00000353508:S675I;ENSP00000392164:S671I	ENSP00000353508:S675I	S	+	2	0	MAP2	210267163	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.466000	0.66731	2.937000	0.99478	0.650000	0.86243	AGT		0.413	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		40	70	1	0	4.92203e-23	0.00623	8.70255e-23	40	70				
TMEM169	92691	broad.mit.edu	37	2	216964784	216964784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:216964784C>A	ENST00000295658.4	+	3	620	c.413C>A	c.(412-414)tCa>tAa	p.S138*	TMEM169_ENST00000437356.2_Nonsense_Mutation_p.S138*|TMEM169_ENST00000406027.2_Nonsense_Mutation_p.S138*|TMEM169_ENST00000454545.1_Nonsense_Mutation_p.S138*	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	138						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTAAAGAGTCATCAAGGGAA	0.542																																							uc010zjr.1		NA																	0				ovary(1)	1						c.(412-414)TCA>TAA		transmembrane protein 169							117.0	104.0	109.0					2																	216964784		2203	4300	6503	SO:0001587	stop_gained	92691					integral to membrane		g.chr2:216964784C>A	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.413C>A	2.37:g.216964784C>A	ENSP00000295658:p.Ser138*					TMEM169_uc010zjs.1_Nonsense_Mutation_p.S138*|TMEM169_uc002vfw.2_Nonsense_Mutation_p.S138*|TMEM169_uc002vfv.3_Nonsense_Mutation_p.S138*	p.S138*	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	739	+		Renal(323;0.0651)	138			Extracellular (Potential).		B2R8W6	Nonsense_Mutation	SNP	ENST00000295658.4	37	c.413C>A	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542766	0.65198	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	-1.23	0.09465	.	0.410761	0.26812	N	0.022368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8115	10.6118	0.45425	0.0:0.5365:0.0:0.4635	.	.	.	.	X	138	.	.	S	+	2	0	TMEM169	216673029	0.123000	0.22298	0.001000	0.08648	0.299000	0.27559	1.078000	0.30754	-0.109000	0.12044	-0.150000	0.13652	TCA		0.542	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		5	87	1	0	1.23904e-05	0.000602	1.49305e-05	5	87				
CXCR2	3579	broad.mit.edu	37	2	219000010	219000010	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:219000010C>T	ENST00000318507.2	+	3	913	c.486C>T	c.(484-486)gtC>gtT	p.V162V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	162					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.V162V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCTACTTGGTCAAATTCATAT	0.532																																							uc002vgz.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(484-486)GTC>GTT		interleukin 8 receptor beta							97.0	86.0	90.0					2																	219000010		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000010C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.486C>T	2.37:g.219000010C>T						CXCR2_uc002vha.1_Silent_p.V162V|CXCR2_uc002vhb.1_Silent_p.V162V	p.V162V	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	711	+			162			Cytoplasmic (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.486C>T	CCDS2408.1																																																																																				0.532	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		25	42	0	0	0	0.00278	0	25	42				
VIL1	7429	broad.mit.edu	37	2	219299256	219299256	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:219299256C>A	ENST00000248444.5	+	14	1596	c.1508C>A	c.(1507-1509)aCc>aAc	p.T503N	VIL1_ENST00000392114.2_Missense_Mutation_p.T192N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	503	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.T503N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGGAGGCACCTCCCGAACT	0.602																																							uc002via.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1507-1509)ACC>AAC		villin 1							66.0	65.0	65.0					2																	219299256		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219299256C>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1508C>A	2.37:g.219299256C>A	ENSP00000248444:p.Thr503Asn					VIL1_uc010zke.1_Missense_Mutation_p.T192N|VIL1_uc002vib.2_Missense_Mutation_p.T503N	p.T503N	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1573	+		Renal(207;0.0474)	503			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1508C>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771612	0.69992	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.17854	2.52;2.52;2.25	4.32	2.45	0.29901	.	0.323933	0.27522	N	0.018983	T	0.34600	0.0903	M	0.64404	1.975	0.80722	D	1	D	0.63880	0.993	D	0.63283	0.913	T	0.06162	-1.0842	10	0.52906	T	0.07	-20.8491	13.9009	0.63802	0.0:0.6825:0.3175:0.0	.	503	P09327	VILI_HUMAN	N	503;192;72	ENSP00000248444:T503N;ENSP00000375962:T192N;ENSP00000394030:T72N	ENSP00000248444:T503N	T	+	2	0	VIL1	219007500	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	4.625000	0.61262	0.417000	0.25871	-0.305000	0.09177	ACC		0.602	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		23	60	1	0	8.24728e-16	0.004656	1.35403e-15	23	60				
BCS1L	617	broad.mit.edu	37	2	219527605	219527605	+	Splice_Site	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:219527605G>A	ENST00000431802.1	+	7	1588		c.e7-1		BCS1L_ENST00000392111.2_Splice_Site|BCS1L_ENST00000359273.3_Splice_Site|BCS1L_ENST00000439945.1_Splice_Site|BCS1L_ENST00000465706.1_Splice_Site|BCS1L_ENST00000392109.1_Splice_Site|BCS1L_ENST00000392110.2_Splice_Site|BCS1L_ENST00000412366.1_Splice_Site			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like						mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCTCCAGACCCAGTAAA	0.517																																							uc002vio.2		NA																	1	Unknown(1)		lung(1)		0						c.e7-1		BCS1-like							154.0	149.0	150.0					2																	219527605		2203	4300	6503	SO:0001630	splice_region_variant	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527605G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.890-1G>A	2.37:g.219527605G>A						BCS1L_uc002vip.2_Splice_Site_p.N297_splice|BCS1L_uc002viq.2_Splice_Site_p.N297_splice|BCS1L_uc010fvu.2_Splice_Site_p.N297_splice|BCS1L_uc010fvv.2_Splice_Site_p.N297_splice|BCS1L_uc002vir.2_Splice_Site_p.N297_splice|BCS1L_uc002vis.2_Splice_Site_p.N297_splice	p.N297_splice	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1308	+		Renal(207;0.0474)						B3KTW9|Q7Z2V7	Splice_Site	SNP	ENST00000431802.1	37	c.890_splice	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127671	0.77549	.	.	ENSG00000074582	ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802;ENST00000426649;ENST00000436603	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.141	0.89639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCS1L	219235849	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.696000	0.84270	2.513000	0.84729	0.561000	0.74099	.		0.517	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328	Intron	15	176	0	0	0	0.004007	0	15	176				
CUL3	8452	broad.mit.edu	37	2	225368392	225368392	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:225368392T>C	ENST00000264414.4	-	9	1692	c.1354A>G	c.(1354-1356)Aaa>Gaa	p.K452E	CUL3_ENST00000409777.1_Missense_Mutation_p.K428E|CUL3_ENST00000409096.1_Missense_Mutation_p.K428E|CUL3_ENST00000344951.4_Missense_Mutation_p.K386E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	452					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.K452E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATCATGTTTTTTTCAGAGTCA	0.318																																							uc002vny.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(1354-1356)AAA>GAA		cullin 3							109.0	98.0	102.0					2																	225368392		2202	4298	6500	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225368392T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1354A>G	2.37:g.225368392T>C	ENSP00000264414:p.Lys452Glu					CUL3_uc010zls.1_Missense_Mutation_p.K386E|CUL3_uc010fwy.1_Missense_Mutation_p.K458E	p.K452E	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	9	1738	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	452					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1354A>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	31	5.058929	0.93846	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.67	5.67	0.87782	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.989;0.989	D	0.88896	0.3349	10	0.72032	D	0.01	.	15.9103	0.79467	0.0:0.0:0.0:1.0	.	386;430;452	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	E	452;386;428;428	ENSP00000264414:K452E;ENSP00000343601:K386E;ENSP00000387200:K428E;ENSP00000386525:K428E	ENSP00000264414:K452E	K	-	1	0	CUL3	225076636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.145000	0.66743	0.528000	0.53228	AAA		0.318	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			4	40	0	0	0	0.000602	0	4	40				
COL4A4	1286	broad.mit.edu	37	2	228004920	228004920	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:228004920C>A	ENST00000396625.3	-	4	356	c.149G>T	c.(148-150)aGa>aTa	p.R50I	COL4A4_ENST00000329662.7_Missense_Mutation_p.R50I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	50	7S domain.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R50I(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGAGCAATCTCTTCCTCCACA	0.413																																							uc010zlt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(148-150)AGA>ATA		alpha 4 type IV collagen precursor							115.0	113.0	114.0					2																	228004920		1923	4121	6044	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228004920C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.149G>T	2.37:g.228004920C>A	ENSP00000379866:p.Arg50Ile						p.R50I	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	4	803	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	50			7S domain.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.149G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374043	0.82573	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.90844	-2.74;-2.69	5.91	5.91	0.95273	.	.	.	.	.	D	0.90827	0.7119	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.89980	0.4100	9	0.35671	T	0.21	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	50	P53420	CO4A4_HUMAN	I	50	ENSP00000379866:R50I;ENSP00000328553:R50I	ENSP00000328553:R50I	R	-	2	0	COL4A4	227713164	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.374000	0.44274	2.793000	0.96121	0.655000	0.94253	AGA		0.413	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		38	72	1	0	6.57855e-14	0.009718	1.03907e-13	38	72				
TRPM8	79054	broad.mit.edu	37	2	234878910	234878910	+	Missense_Mutation	SNP	C	C	A	rs17862932	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:234878910C>A	ENST00000324695.4	+	17	2235	c.2195C>A	c.(2194-2196)aCc>aAc	p.T732N	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	732			T -> I (in dbSNP:rs17862932).		calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.T732N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCGTTCTTCACCTCCCCCTTC	0.527																																							uc002vvh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(2194-2196)ACC>AAC		transient receptor potential cation channel,	Menthol(DB00825)						477.0	392.0	421.0					2																	234878910		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234878910C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2195C>A	2.37:g.234878910C>A	ENSP00000323926:p.Thr732Asn					TRPM8_uc010fyj.2_Intron	p.T732N	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2235	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	732			Extracellular (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2195C>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595193	0.66219	.	.	ENSG00000144481	ENST00000324695	T	0.63417	-0.04	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000004	T	0.69477	0.3115	L	0.41236	1.265	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.63060	-0.6721	10	0.13108	T	0.6	-30.0362	16.6947	0.85332	0.0:1.0:0.0:0.0	.	732	Q7Z2W7	TRPM8_HUMAN	N	732	ENSP00000323926:T732N	ENSP00000323926:T732N	T	+	2	0	TRPM8	234543649	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.634000	0.67833	2.357000	0.79964	0.558000	0.71614	ACC		0.527	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		39	266	1	0	2.87052e-16	0.005524	4.74823e-16	39	266				
ACKR3	57007	broad.mit.edu	37	2	237489326	237489326	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:237489326A>T	ENST00000272928.3	+	2	528	c.218A>T	c.(217-219)aAg>aTg	p.K73M		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	73					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.K73M(1)									ATCCAGGCCAAGACCACAGGC	0.532																																							uc010fyq.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(217-219)AAG>ATG		chemokine orphan receptor 1							182.0	139.0	154.0					2																	237489326		2203	4300	6503	SO:0001583	missense	57007				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:237489326A>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.218A>T	2.37:g.237489326A>T	ENSP00000272928:p.Lys73Met					CXCR7_uc002vwd.2_Missense_Mutation_p.K73M	p.K73M	NM_020311	NP_064707	P25106	CXCR7_HUMAN		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)	3	448	+		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)	73			Cytoplasmic (Potential).		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.218A>T	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.519970	0.64634	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.42513	0.97;0.97	5.57	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.107271	0.64402	D	0.000006	T	0.54224	0.1845	L	0.42529	1.33	0.43207	D	0.995062	D	0.71674	0.998	D	0.68192	0.956	T	0.55786	-0.8086	10	0.87932	D	0	.	12.5343	0.56133	0.8605:0.1395:0.0:0.0	.	73	P25106	CXCR7_HUMAN	M	73	ENSP00000405945:K73M;ENSP00000272928:K73M	ENSP00000272928:K73M	K	+	2	0	CXCR7	237154065	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	5.910000	0.69931	0.903000	0.36546	0.460000	0.39030	AAG		0.532	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		17	27	0	0	0	0.00499	0	17	27				
COL6A3	1293	broad.mit.edu	37	2	238275663	238275663	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:238275663G>T	ENST00000295550.4	-	11	5619	c.5167C>A	c.(5167-5169)Ctt>Att	p.L1723I	COL6A3_ENST00000472056.1_Missense_Mutation_p.L1116I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L1517I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1523I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1522I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1517I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1723	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L1723I(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGCTCAAGGCCCACCTTA	0.547																																							uc002vwl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(5167-5169)CTT>ATT		alpha 3 type VI collagen isoform 1 precursor							88.0	74.0	79.0					2																	238275663		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275663G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5167C>A	2.37:g.238275663G>T	ENSP00000295550:p.Leu1723Ile					COL6A3_uc002vwo.2_Missense_Mutation_p.L1517I|COL6A3_uc010znj.1_Missense_Mutation_p.L1116I	p.L1723I	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5452	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1723			VWFA 9.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5167C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	5.565	0.289079	0.10513	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.56	-11.1	0.00147	von Willebrand factor, type A (3);	0.384550	0.21216	N	0.078240	T	0.70753	0.3260	N	0.11364	0.135	0.20975	N	0.999816	B;B;B	0.30851	0.297;0.056;0.0	B;B;B	0.34489	0.184;0.048;0.004	T	0.51196	-0.8736	10	0.11794	T	0.64	.	21.1142	0.99946	0.0:0.0614:0.0909:0.8477	.	1116;1517;1723	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	I	1723;1522;1517;1116;1517;1523	ENSP00000295550:L1723I;ENSP00000315609:L1522I;ENSP00000315873:L1517I;ENSP00000418285:L1116I;ENSP00000386844:L1517I;ENSP00000295546:L1523I	ENSP00000295550:L1723I	L	-	1	0	COL6A3	237940402	0.369000	0.25039	0.005000	0.12908	0.088000	0.18126	-0.424000	0.07025	-2.547000	0.00482	-1.036000	0.02392	CTT		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	53	1	0	5.18039e-06	0.00308	6.37205e-06	7	53				
HDAC4	9759	broad.mit.edu	37	2	239990288	239990288	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:239990288C>G	ENST00000345617.3	-	23	3542	c.2751G>C	c.(2749-2751)ccG>ccC	p.P917P	AC017028.10_ENST00000579161.1_RNA|AC017028.3_ENST00000584260.1_RNA|AC017028.9_ENST00000581111.1_RNA|HDAC4_ENST00000543185.1_Silent_p.P501P|AC017028.6_ENST00000577291.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.4_ENST00000577359.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	917	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P917P(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGCTGGCGATCGGCATGACCA	0.612																																							uc002vyk.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(2749-2751)CCG>CCC		histone deacetylase 4							90.0	87.0	88.0					2																	239990288		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239990288C>G	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2751G>C	2.37:g.239990288C>G						HDAC4_uc010fyy.2_Silent_p.P874P	p.P917P	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	23	3543	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	917			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2751G>C	CCDS2529.1																																																																																				0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		15	51	0	0	0	0.004007	0	15	51				
OR6B2	389090	broad.mit.edu	37	2	240969557	240969557	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:240969557C>A	ENST00000402971.2	-	1	349	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97F(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTGCGTCATGCACCCGACGAA	0.587																																							uc002vyr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(289-291)TGC>TTC		olfactory receptor, family 6, subfamily B,							33.0	33.0	33.0					2																	240969557		1860	4067	5927	SO:0001583	missense	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969557C>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.290G>T	2.37:g.240969557C>A	ENSP00000384563:p.Cys97Phe					OR6B2_uc010zoc.1_Missense_Mutation_p.C97F	p.C97F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	336	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	97			Extracellular (Potential).		B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	c.290G>T	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	N	16.29	3.081849	0.55861	.	.	ENSG00000182083	ENST00000402971	T	0.00547	6.66	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000097	T	0.05273	0.0140	H	0.98901	4.365	0.47276	D	0.999376	D	0.89917	1.0	D	0.97110	1.0	T	0.01212	-1.1417	10	0.87932	D	0	.	14.7691	0.69662	0.0:1.0:0.0:0.0	.	97	Q6IFH4	OR6B2_HUMAN	F	97	ENSP00000384563:C97F	ENSP00000384563:C97F	C	-	2	0	OR6B2	240618230	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	5.223000	0.65283	2.393000	0.81446	0.591000	0.81541	TGC		0.587	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		14	31	1	0	1.67942e-08	0.006122	2.29485e-08	14	31				
DUSP28	285193	broad.mit.edu	37	2	241500849	241500849	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:241500849G>A	ENST00000405954.1	+	2	879	c.496G>A	c.(496-498)Gag>Aag	p.E166K	ANKMY1_ENST00000536462.1_5'Flank|DUSP28_ENST00000343217.2_Missense_Mutation_p.E166K|ANKMY1_ENST00000405002.1_5'Flank|ANKMY1_ENST00000403283.1_5'Flank|ANKMY1_ENST00000462004.1_5'Flank			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	166					JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E166K(1)		lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CCTGCAGGGAGAGCCCCCAGC	0.622																																					Pancreas(150;1630 2604 23402 46829)	Pancreas(150;1630 2604 23402 46829)	uc002vzg.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(496-498)GAG>AAG		dual specificity phosphatase 28							31.0	36.0	34.0					2																	241500849		2202	4300	6502	SO:0001583	missense	285193						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr2:241500849G>A	BC036198	CCDS33418.1	2q37.1	2011-06-09			ENSG00000188542	ENSG00000188542		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	33237	protein-coding gene	gene with protein product							Standard	XM_006712455		Approved	VHP, DUSP26	uc002vzg.3	Q4G0W2	OTTHUMG00000152310	ENST00000405954.1:c.496G>A	2.37:g.241500849G>A	ENSP00000385885:p.Glu166Lys					ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.E166K	p.E166K	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)	2	1127	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	166						Missense_Mutation	SNP	ENST00000405954.1	37	c.496G>A	CCDS33418.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001696	0.54254	.	.	ENSG00000188542	ENST00000343217;ENST00000405954	T;T	0.03330	3.97;3.97	2.66	2.66	0.31614	.	2.639540	0.02267	U	0.068057	T	0.05227	0.0139	L	0.56769	1.78	0.19775	N	0.999956	B	0.31040	0.305	B	0.21151	0.033	T	0.51172	-0.8739	10	0.10377	T	0.69	.	8.9594	0.35838	0.0:0.0:1.0:0.0	.	166	Q4G0W2	DUS28_HUMAN	K	166	ENSP00000344235:E166K;ENSP00000385885:E166K	ENSP00000344235:E166K	E	+	1	0	DUSP28	241149522	0.136000	0.22515	0.082000	0.20525	0.024000	0.10985	1.908000	0.39907	1.816000	0.52996	0.650000	0.86243	GAG		0.622	DUSP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325814.1	NM_001033575		5	31	0	0	0	0.001168	0	5	31				
SIRPA	140885	broad.mit.edu	37	20	1903195	1903195	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:1903195T>A	ENST00000358771.4	+	4	1143	c.991T>A	c.(991-993)Tgc>Agc	p.C331S	SIRPA_ENST00000400068.3_Missense_Mutation_p.C331S|SIRPA_ENST00000356025.3_Missense_Mutation_p.C331S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	331	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.C331S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GAAGCTCACCTGCCAGGTGGA	0.572																																					GBM(155;1668 1920 5945 42733 48121)	GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)TGC>AGC		signal-regulatory protein alpha precursor							83.0	69.0	74.0					20																	1903195		2202	4279	6481	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1903195T>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.991T>A	20.37:g.1903195T>A	ENSP00000351621:p.Cys331Ser					SIRPA_uc010zps.1_Missense_Mutation_p.C311S|SIRPA_uc002wfr.2_Missense_Mutation_p.C331S|SIRPA_uc002wfs.2_Missense_Mutation_p.C331S|SIRPA_uc002wft.2_Missense_Mutation_p.C331S	p.C331S	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	5	1351	+			331			Ig-like C1-type 2.|Extracellular (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.991T>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.209575	0.79240	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.58358	0.34;0.34;0.34	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.81616	0.4860	H	0.97918	4.105	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.87264	0.2281	10	0.87932	D	0	.	11.9001	0.52678	0.0:0.0:0.0:1.0	.	311;331;331	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	S	331	ENSP00000382941:C331S;ENSP00000348307:C331S;ENSP00000351621:C331S	ENSP00000348307:C331S	C	+	1	0	SIRPA	1851195	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.108000	0.57817	2.371000	0.80710	0.533000	0.62120	TGC		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		8	62	0	0	0	0.008291	0	8	62				
SIGLEC1	6614	broad.mit.edu	37	20	3673254	3673254	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:3673254G>T	ENST00000344754.4	-	15	3943	c.3944C>A	c.(3943-3945)aCg>aAg	p.T1315K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T1315K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1315	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T1315K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATGAGCCCGCGTGGCCACCAG	0.657																																							uc002wja.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(3943-3945)ACG>AAG		sialoadhesin precursor							36.0	37.0	37.0					20																	3673254		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673254G>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3944C>A	20.37:g.3673254G>T	ENSP00000341141:p.Thr1315Lys					SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.T1315K	p.T1315K	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			15	3944	-			1315			Ig-like C2-type 13.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3944C>A	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.946|9.946	1.218710|1.218710	0.22373|0.22373	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.14893	.|2.47;2.47	5.71|5.71	-1.21|-1.21	0.09524|0.09524	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.555836	.|0.13855	.|N	.|0.358097	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.55103|0.55103	1.725|1.725	0.09310|0.09310	N|N	1|1	.|D;D	.|0.57571	.|0.972;0.98	.|P;P	.|0.61658	.|0.892;0.827	T|T	0.22277|0.22277	-1.0221|-1.0221	5|10	.|0.12103	.|T	.|0.63	.|.	1.6568|1.6568	0.02783|0.02783	0.3697:0.1272:0.3724:0.1307|0.3697:0.1272:0.3724:0.1307	.|.	.|1315;1315	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	Q|K	128|1315	.|ENSP00000341141:T1315K;ENSP00000202578:T1315K	.|ENSP00000202578:T1315K	H|T	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621254|3621254	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.671000|-0.671000	0.05250|0.05250	-0.123000|-0.123000	0.11745|0.11745	-0.768000|-0.768000	0.03414|0.03414	CAC|ACG		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		11	40	1	0	1.08611e-07	0.000978	1.42471e-07	11	40				
AP5S1	55317	broad.mit.edu	37	20	3804637	3804637	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:3804637G>T	ENST00000246041.2	+	3	515	c.296G>T	c.(295-297)cGc>cTc	p.R99L	AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.R99L			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	99					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.R99L(1)									GGGGCTTTCCGCCTGGCAGCA	0.662																																							uc002wjs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(295-297)CGC>CTC		hypothetical protein LOC55317							59.0	52.0	54.0					20																	3804637		2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3804637G>T	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.296G>T	20.37:g.3804637G>T	ENSP00000246041:p.Arg99Leu					C20orf29_uc002wjt.2_Missense_Mutation_p.R23L|C20orf29_uc002wju.1_Missense_Mutation_p.R99L	p.R99L	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN			3	474	+			99					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.296G>T	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590973	0.28357	.	.	ENSG00000125843	ENST00000379567;ENST00000246041	.	.	.	5.97	2.96	0.34315	.	0.342555	0.34603	N	0.003829	T	0.32133	0.0819	L	0.36672	1.1	0.30468	N	0.773612	P	0.40302	0.712	B	0.40329	0.326	T	0.28839	-1.0031	9	0.59425	D	0.04	-7.1392	7.5745	0.27928	0.268:0.0:0.732:0.0	.	99	Q9NUS5	CT029_HUMAN	L	99	.	ENSP00000246041:R99L	R	+	2	0	C20orf29	3752637	1.000000	0.71417	0.997000	0.53966	0.166000	0.22503	2.331000	0.43894	0.404000	0.25506	0.561000	0.74099	CGC		0.662	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		10	28	1	0	1.76689e-08	0.006214	2.4016e-08	10	28				
HAO1	54363	broad.mit.edu	37	20	7875833	7875833	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:7875833C>A	ENST00000378789.3	-	5	811	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	254	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.G254W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACCAAGATCCCATTCAAGCCA	0.488																																							uc002wmw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(760-762)GGG>TGG		hydroxyacid oxidase 1							127.0	115.0	119.0					20																	7875833		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7875833C>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.760G>T	20.37:g.7875833C>A	ENSP00000368066:p.Gly254Trp					HAO1_uc010gbu.2_Missense_Mutation_p.G254W	p.G254W	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			5	784	-			254			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.760G>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983624	0.93044	.	.	ENSG00000101323	ENST00000378789	T	0.44482	0.92	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.045671	0.85682	D	0.000000	T	0.77226	0.4099	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83066	-0.0145	10	0.87932	D	0	-24.2111	20.4388	0.99107	0.0:1.0:0.0:0.0	.	254;254	A8K058;Q9UJM8	.;HAOX1_HUMAN	W	254	ENSP00000368066:G254W	ENSP00000368066:G254W	G	-	1	0	HAO1	7823833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.242000	0.78210	2.836000	0.97738	0.655000	0.94253	GGG		0.488	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			28	104	1	0	2.70662e-09	0.009535	3.8031e-09	28	104				
PAK7	57144	broad.mit.edu	37	20	9561532	9561532	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:9561532C>A	ENST00000378429.3	-	5	796	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	PAK7_ENST00000378423.1_Missense_Mutation_p.G84C|PAK7_ENST00000353224.5_Missense_Mutation_p.G84C	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	84	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G84C(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTAGCAGGCCGTTGATGGAG	0.463																																							uc002wnl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(250-252)GGC>TGC		p21-activated kinase 7							109.0	110.0	110.0					20																	9561532		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561532C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.250G>T	20.37:g.9561532C>A	ENSP00000367686:p.Gly84Cys					PAK7_uc002wnk.2_Missense_Mutation_p.G84C|PAK7_uc002wnj.2_Missense_Mutation_p.G84C|PAK7_uc010gby.1_Missense_Mutation_p.G84C	p.G84C	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	795	-			84			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.250G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671963	0.88348	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.47177	0.85;0.85;0.85	5.82	5.82	0.92795	.	0.044222	0.85682	D	0.000000	T	0.68815	0.3042	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.65611	-0.6126	9	.	.	.	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	84;84	B0AZM9;Q9P286	.;PAK7_HUMAN	C	84;84;84;32	ENSP00000367686:G84C;ENSP00000322957:G84C;ENSP00000367679:G84C	.	G	-	1	0	PAK7	9509532	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.814000	0.86154	2.744000	0.94065	0.655000	0.94253	GGC		0.463	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			45	169	1	0	3.77016e-25	0.003214	6.77485e-25	45	169				
MKKS	8195	broad.mit.edu	37	20	10393358	10393358	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:10393358C>T	ENST00000347364.3	-	3	1567	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	MKKS_ENST00000399054.2_Missense_Mutation_p.E269K	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	269	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.E269K(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ACTGCATTTTCAAGAGAAACC	0.453																																					Melanoma(79;1979 2212 6640)	Melanoma(79;1979 2212 6640)	uc002wnt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(805-807)GAA>AAA		McKusick-Kaufman syndrome protein							102.0	97.0	99.0					20																	10393358		2203	4300	6503	SO:0001583	missense	8195	Bardet-Biedl_syndrome			brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10393358C>T	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.805G>A	20.37:g.10393358C>T	ENSP00000246062:p.Glu269Lys					MKKS_uc002wnu.1_Missense_Mutation_p.E269K|MKKS_uc010zrd.1_Intron	p.E269K	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN			3	1692	-			269			Substrate-binding apical domain.		A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	c.805G>A	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546386	0.86022	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.75821	-0.97;-0.97	5.72	5.72	0.89469	.	0.095305	0.64402	D	0.000001	T	0.78861	0.4350	M	0.75447	2.3	0.58432	D	0.999999	P	0.40731	0.728	P	0.46718	0.525	T	0.73777	-0.3876	10	0.06494	T	0.89	-22.6255	20.2504	0.98404	0.0:1.0:0.0:0.0	.	269	Q9NPJ1	MKKS_HUMAN	K	269	ENSP00000246062:E269K;ENSP00000382008:E269K	ENSP00000246062:E269K	E	-	1	0	MKKS	10341358	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.378000	0.59568	2.850000	0.98022	0.650000	0.86243	GAA		0.453	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			7	53	0	0	0	0.001984	0	7	53				
FLRT3	23767	broad.mit.edu	37	20	14306824	14306824	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:14306824C>G	ENST00000378053.3	-	2	1585	c.1329G>C	c.(1327-1329)ctG>ctC	p.L443L	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L443L|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	443	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L443L(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGCTATGGCCCAGTTTAAGCC	0.448																																							uc002wov.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(1327-1329)CTG>CTC		fibronectin leucine rich transmembrane protein 3							77.0	77.0	77.0					20																	14306824		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306824C>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1329G>C	20.37:g.14306824C>G						MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.L443L	p.L443L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1796	-		Colorectal(1;0.0464)	443			Extracellular (Potential).|Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.1329G>C	CCDS13121.1																																																																																				0.448	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		25	86	0	0	0	0.00333	0	25	86				
CFAP61	26074	broad.mit.edu	37	20	20079314	20079314	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:20079314G>C	ENST00000245957.5	+	8	791	c.715G>C	c.(715-717)Gtt>Ctt	p.V239L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.V239L|C20orf26_ENST00000451767.2_Missense_Mutation_p.V239L|C20orf26_ENST00000377309.2_5'UTR|RP5-1002M8.4_ENST00000470758.1_RNA	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		239								p.V239L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGGCACAGCTGTTGGGTTCAT	0.453																																							uc002wru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(715-717)GTT>CTT		hypothetical protein LOC26074							205.0	179.0	188.0					20																	20079314		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20079314G>C																												ENST00000245957.5:c.715G>C	20.37:g.20079314G>C	ENSP00000245957:p.Val239Leu					C20orf26_uc010gcw.1_Missense_Mutation_p.V193L|C20orf26_uc010zse.1_Missense_Mutation_p.V239L|C20orf26_uc010zsf.1_Missense_Mutation_p.V239L	p.V239L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	8	791	+			239					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.715G>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998029	0.74818	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660;ENST00000377297	T;T;T;T;T	0.53423	1.3;0.62;1.3;1.3;0.62	5.22	5.22	0.72569	Acyl-CoA N-acyltransferase (2);	0.167044	0.37715	N	0.001962	T	0.69205	0.3085	M	0.69823	2.125	0.80722	D	1	P;D;D;D	0.76494	0.879;0.979;0.998;0.999	P;P;D;D	0.78314	0.488;0.797;0.934;0.991	T	0.71968	-0.4432	10	0.62326	D	0.03	.	18.7436	0.91784	0.0:0.0:1.0:0.0	.	239;239;193;239	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	L	193;239;239;239;239;239;135;31	ENSP00000345553:V193L;ENSP00000245957:V239L;ENSP00000366521:V239L;ENSP00000414537:V239L;ENSP00000420498:V135L	ENSP00000245957:V239L	V	+	1	0	C20orf26	20027314	1.000000	0.71417	0.991000	0.47740	0.544000	0.35116	7.199000	0.77831	2.440000	0.82611	0.491000	0.48974	GTT		0.453	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			42	101	0	0	0	0.003214	0	42	101				
SSTR4	6754	broad.mit.edu	37	20	23017238	23017238	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:23017238C>A	ENST00000255008.3	+	1	1182	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	373					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.P373Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCTGCAACCAGAACCCGGC	0.667																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)CCA>CAA		somatostatin receptor 4							40.0	48.0	45.0					20																	23017238		2081	4203	6284	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017238C>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1118C>A	20.37:g.23017238C>A	ENSP00000255008:p.Pro373Gln						p.P373Q	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	1182	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		373			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.1118C>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	3.375	-0.127528	0.06753	.	.	ENSG00000132671	ENST00000255008	T	0.65178	-0.14	3.92	1.89	0.25635	.	1.730700	0.03659	N	0.242347	T	0.49779	0.1577	N	0.22421	0.69	0.09310	N	0.999998	B	0.12630	0.006	B	0.12837	0.008	T	0.38607	-0.9653	10	0.51188	T	0.08	.	6.9321	0.24447	0.1725:0.7314:0.0:0.0962	.	373	P31391	SSR4_HUMAN	Q	373	ENSP00000255008:P373Q	ENSP00000255008:P373Q	P	+	2	0	SSTR4	22965238	0.049000	0.20398	0.067000	0.19924	0.002000	0.02628	1.327000	0.33746	0.284000	0.22305	-0.140000	0.14226	CCA		0.667	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			9	87	1	0	2.74318e-10	0.006214	3.99669e-10	9	87				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																							uc010ztl.1		NA																	2	Substitution - Missense(2)		prostate(2)		0						c.(211-213)AGT>AAT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N	p.S71N							3	244	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.212G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	52	0	0	0	0.006214	0	6	52				
CBFA2T2	9139	broad.mit.edu	37	20	32210976	32210976	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:32210976A>T	ENST00000346541.3	+	6	1130	c.593A>T	c.(592-594)cAg>cTg	p.Q198L	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.Q208L|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.Q169L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.Q198L|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.Q189L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	198	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q189L(1)|p.Q198L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCGGCCAAGCAGACCCCATCC	0.587																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(592-594)CAG>CTG		core-binding factor, runt domain, alpha subunit							91.0	77.0	82.0					20																	32210976		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32210976A>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.593A>T	20.37:g.32210976A>T	ENSP00000262653:p.Gln198Leu					CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.Q189L|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.Q169L|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	p.Q198L	NM_005093	NP_005084	O43439	MTG8R_HUMAN			6	1130	+			198			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.593A>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403962	0.83230	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	6.02	6.02	0.97574	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	M	0.72118	2.19	0.80722	D	1	D;D	0.56746	0.977;0.971	D;D	0.72338	0.977;0.961	T	0.74231	-0.3732	10	0.62326	D	0.03	0.9854	16.5494	0.84464	1.0:0.0:0.0:0.0	.	198;189	O43439;F8W6D7	MTG8R_HUMAN;.	L	198;189;169;198;169;169;208	ENSP00000364428:Q198L;ENSP00000345810:Q189L;ENSP00000341865:Q169L;ENSP00000262653:Q198L;ENSP00000380902:Q169L;ENSP00000380900:Q169L;ENSP00000352622:Q208L	ENSP00000345810:Q189L	Q	+	2	0	CBFA2T2	31674637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.299000	0.77371	0.528000	0.53228	CAG		0.587	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		5	70	0	0	0	0.000602	0	5	70				
EPB41L1	2036	broad.mit.edu	37	20	34797802	34797802	+	Silent	SNP	G	G	T	rs142392996		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:34797802G>T	ENST00000338074.2	+	15	2222	c.2061G>T	c.(2059-2061)ccG>ccT	p.P687P	EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373950.2_Silent_p.P578P|EPB41L1_ENST00000441639.1_Silent_p.P613P|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Silent_p.P687P|EPB41L1_ENST00000202028.5_Silent_p.P613P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	687					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.P687P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTCCACCCCGGATATGCCCC	0.657																																							uc002xfb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2059-2061)CCG>CCT		erythrocyte membrane protein band 4.1-like 1							30.0	30.0	30.0					20																	34797802		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797802G>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2061G>T	20.37:g.34797802G>T						EPB41L1_uc002xeu.2_Silent_p.P613P|EPB41L1_uc010zvo.1_Silent_p.P687P|EPB41L1_uc002xev.2_Silent_p.P687P|EPB41L1_uc002xew.2_Silent_p.P578P|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Silent_p.P613P|EPB41L1_uc010gfq.2_Silent_p.P786P	p.P687P	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	2232	+	Breast(12;0.0239)		687					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.2061G>T	CCDS13271.1																																																																																				0.657	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		8	21	1	0	0.00448238	0.004482	0.00488872	8	21				
RBL1	5933	broad.mit.edu	37	20	35661274	35661274	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:35661274C>T	ENST00000373664.3	-	16	2242	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	RBL1_ENST00000344359.3_Missense_Mutation_p.A726T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	726	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.A726T(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GCATCATTTGCGACACCTGAA	0.328																																							uc002xgi.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|skin(3)|ovary(2)	10						c.(2176-2178)GCA>ACA		retinoblastoma-like protein 1 isoform a							109.0	101.0	104.0					20																	35661274		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35661274C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2176G>A	20.37:g.35661274C>T	ENSP00000362768:p.Ala726Thr					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A726T	p.A726T	NM_002895	NP_002886	P28749	RBL1_HUMAN			16	2255	-		Myeloproliferative disorder(115;0.00878)	726			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2176G>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184749	0.57909	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.93712	-3.03;-3.27	5.3	4.35	0.52113	.	0.181870	0.47852	D	0.000212	D	0.90494	0.7022	M	0.61703	1.905	0.50467	D	0.999879	B;P	0.36222	0.236;0.544	B;B	0.27715	0.028;0.082	D	0.89220	0.3570	10	0.33141	T	0.24	-17.5931	16.1475	0.81580	0.0:0.8665:0.1335:0.0	.	726;726	P28749-2;P28749	.;RBL1_HUMAN	T	726	ENSP00000362768:A726T;ENSP00000343646:A726T	ENSP00000343646:A726T	A	-	1	0	RBL1	35094688	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.140000	0.31516	1.461000	0.47929	0.650000	0.86243	GCA		0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		33	110	0	0	0	0.003271	0	33	110				
MROH8	140699	broad.mit.edu	37	20	35802514	35802514	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:35802514C>T	ENST00000400441.3	-	3	262	c.263G>A	c.(262-264)tGt>tAt	p.C88Y	MROH8_ENST00000217333.8_Missense_Mutation_p.C3Y|MROH8_ENST00000441008.2_Missense_Mutation_p.C74Y			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	8								p.C88Y(1)									TTCCTGACTACAGATCCTAGG	0.403																																							uc010zvu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(292-294)TGT>TAT		hypothetical protein LOC140699 isoform 1							73.0	64.0	67.0					20																	35802514		1882	4102	5984	SO:0001583	missense	140699							g.chr20:35802514C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.263G>A	20.37:g.35802514C>T	ENSP00000383291:p.Cys88Tyr					C20orf132_uc002xgm.2_Missense_Mutation_p.C98Y|C20orf132_uc002xgn.2_Missense_Mutation_p.C98Y	p.C98Y	NM_152503	NP_689716	Q9H579	CT132_HUMAN			5	384	-		Myeloproliferative disorder(115;0.00878)	8					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.293G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.31|13.31	2.200449|2.200449	0.38905|0.38905	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811;ENST00000400440	T;T;T|.	0.03801|.	4.15;4.43;3.8|.	4.86|4.86	-0.935|-0.935	0.10423|0.10423	.|.	33.631600|.	0.00166|.	N|.	0.000000|.	T|T	0.22322|0.22322	0.0538|0.0538	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;B;D|.	0.60160|.	0.94;0.007;0.987|.	P;B;P|.	0.58391|.	0.459;0.012;0.838|.	T|T	0.29366|0.29366	-1.0014|-1.0014	10|5	0.72032|.	D|.	0.01|.	1.902|1.902	6.4271|6.4271	0.21776|0.21776	0.0:0.3872:0.4391:0.1737|0.0:0.3872:0.4391:0.1737	.|.	88;8;98|.	E7ETR9;Q9H579;Q6PF12|.	.;CT132_HUMAN;.|.	Y|I	74;88;3|115;119	ENSP00000392144:C74Y;ENSP00000383291:C88Y;ENSP00000217333:C3Y|.	ENSP00000217333:C3Y|.	C|V	-|-	2|1	0|0	C20orf132|C20orf132	35235928|35235928	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.237000|-0.237000	0.08990|0.08990	-0.330000|-0.330000	0.08514|0.08514	-0.304000|-0.304000	0.09214|0.09214	TGT|GTA		0.403	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		12	29	0	0	0	0.001368	0	12	29				
LPIN3	64900	broad.mit.edu	37	20	39984671	39984671	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:39984671G>A	ENST00000373257.3	+	14	1891	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	600	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.Q600Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCTCCGATCAGATCGTAAGTG	0.592																																							uc002xjx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1798-1800)CAG>CAA		lipin 3							197.0	160.0	172.0					20																	39984671		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984671G>A	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1800G>A	20.37:g.39984671G>A						LPIN3_uc010ggh.2_Silent_p.Q601Q|LPIN3_uc010zwf.1_RNA	p.Q600Q	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			14	1891	+		Myeloproliferative disorder(115;0.000739)	600			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1800G>A	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	G	5.091	0.202362	0.09652	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.83	3.88	0.44766	.	.	.	.	.	T	0.55321	0.1913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51608	-0.8684	4	.	.	.	-19.8712	6.3367	0.21300	0.331:0.0:0.669:0.0	.	.	.	.	K	90	.	.	R	+	2	0	LPIN3	39418085	1.000000	0.71417	0.987000	0.45799	0.583000	0.36354	2.823000	0.48081	1.161000	0.42604	0.462000	0.41574	AGA		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		6	74	0	0	0	0.001168	0	6	74				
HNF4A	3172	broad.mit.edu	37	20	43058194	43058194	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:43058194A>T	ENST00000316099.4	+	10	1403	c.1314A>T	c.(1312-1314)ccA>ccT	p.P438P	HNF4A_ENST00000316673.4_Silent_p.P416P|HNF4A_ENST00000457232.1_Silent_p.P406P|HNF4A_ENST00000415691.2_Silent_p.P428P	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	438					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P438P(1)|p.P416P(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCACCGCCAGGTGGCTCAG	0.612																																					Colon(79;2 1269 8820 14841 52347)	Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1312-1314)CCA>CCT		hepatocyte nuclear factor 4 alpha isoform b							88.0	95.0	92.0					20																	43058194		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43058194A>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1314A>T	20.37:g.43058194A>T						HNF4A_uc002xlu.2_Silent_p.P406P|HNF4A_uc002xlv.2_Silent_p.P416P|HNF4A_uc002xlz.2_Silent_p.P428P|HNF4A_uc010ggq.2_Silent_p.P431P	p.P438P	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		10	1403	+		Myeloproliferative disorder(115;0.0122)	438					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.1314A>T	CCDS13330.1																																																																																				0.612	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			41	116	0	0	0	0.002522	0	41	116				
RIMS4	140730	broad.mit.edu	37	20	43385559	43385559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:43385559G>T	ENST00000372851.3	-	5	637	c.571C>A	c.(571-573)Ccc>Acc	p.P191T	RIMS4_ENST00000541604.2_Missense_Mutation_p.P192T	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	191	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.P191T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTGCCCTGGGGACTCTCAGGA	0.567																																							uc002xms.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(571-573)CCC>ACC		regulating synaptic membrane exocytosis 4							269.0	235.0	247.0					20																	43385559		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43385559G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.571C>A	20.37:g.43385559G>T	ENSP00000361942:p.Pro191Thr					RIMS4_uc010ggu.2_Missense_Mutation_p.P192T	p.P191T	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			5	571	-		Myeloproliferative disorder(115;0.0122)	191			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.571C>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087138	0.76642	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.70282	-0.47;-0.47	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	M	0.83312	2.635	0.80722	D	1	D;D	0.53462	0.96;0.96	P;P	0.59825	0.864;0.864	T	0.82339	-0.0506	10	0.30078	T	0.28	.	18.6881	0.91573	0.0:0.0:1.0:0.0	.	192;191	E1P613;Q9H426	.;RIMS4_HUMAN	T	191;192	ENSP00000361942:P191T;ENSP00000439287:P192T	ENSP00000361942:P191T	P	-	1	0	RIMS4	42818973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.404000	0.81709	0.462000	0.41574	CCC		0.567	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		75	177	1	0	5.44642e-36	0.00361	1.02662e-35	75	177				
NCOA3	8202	broad.mit.edu	37	20	46281260	46281260	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:46281260G>T	ENST00000371998.3	+	21	4248	c.4057G>T	c.(4057-4059)Gct>Tct	p.A1353S	NCOA3_ENST00000341724.6_Missense_Mutation_p.A1279S|NCOA3_ENST00000372004.3_Missense_Mutation_p.A1349S|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1344S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1353					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.A1353S(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACACCCGCAGGCTGCATCCAT	0.488																																							uc002xtk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(4057-4059)GCT>TCT		nuclear receptor coactivator 3 isoform a							90.0	75.0	80.0					20																	46281260		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46281260G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4057G>T	20.37:g.46281260G>T	ENSP00000361066:p.Ala1353Ser					NCOA3_uc002xtl.2_Missense_Mutation_p.A1349S|NCOA3_uc002xtm.2_Missense_Mutation_p.A1348S|NCOA3_uc002xtn.2_Missense_Mutation_p.A1352S|NCOA3_uc010zyc.1_Missense_Mutation_p.A1148S	p.A1353S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			21	4262	+			1353					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.4057G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634022	0.47049	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02177	4.43;4.61;4.6;4.41	5.23	-3.26	0.05064	.	0.679108	0.14787	N	0.298458	T	0.01730	0.0055	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.42085	-0.9472	10	0.34782	T	0.22	-0.0422	4.6857	0.12757	0.3648:0.1033:0.4302:0.1017	.	1353;1356;1348;1349;1353	A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	S	1349;1279;1349;1353;1344	ENSP00000342123:A1279S;ENSP00000361073:A1349S;ENSP00000361066:A1353S;ENSP00000361065:A1344S	ENSP00000345671:A1349S	A	+	1	0	NCOA3	45714667	0.561000	0.26578	0.042000	0.18584	0.793000	0.44817	0.054000	0.14205	-0.451000	0.07097	-0.768000	0.03414	GCT		0.488	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		20	31	1	0	3.99206e-14	0.007413	6.33138e-14	20	31				
TSHZ2	128553	broad.mit.edu	37	20	51870809	51870809	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:51870809C>A	ENST00000371497.5	+	2	1699	c.812C>A	c.(811-813)gCt>gAt	p.A271D	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A268D|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A268D|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	271					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A271D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGAGGATGCTCAAAAGGTT	0.438																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(811-813)GCT>GAT		teashirt zinc finger homeobox 2							74.0	57.0	63.0					20																	51870809		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870809C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.812C>A	20.37:g.51870809C>A	ENSP00000360552:p.Ala271Asp						p.A271D	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1768	+			271					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.812C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599344	0.87055	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.43294	0.95;0.95	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66011	-0.6029	10	0.87932	D	0	-1.2317	19.7465	0.96253	0.0:1.0:0.0:0.0	.	271	Q9NRE2	TSH2_HUMAN	D	271;268	ENSP00000360552:A271D;ENSP00000333114:A268D	ENSP00000333114:A268D	A	+	2	0	TSHZ2	51304216	1.000000	0.71417	0.992000	0.48379	0.935000	0.57460	7.440000	0.80464	2.732000	0.93576	0.643000	0.83706	GCT		0.438	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		13	29	1	0	1.49906e-05	0.00245	1.79654e-05	13	29				
PCK1	5105	broad.mit.edu	37	20	56138753	56138753	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:56138753G>A	ENST00000319441.4	+	6	1095	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.D179N	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	311					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.D311N(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CGTCGGGGATGACATTGCCTG	0.557																																							uc002xyn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(931-933)GAC>AAC		cytosolic phosphoenolpyruvate carboxykinase 1							147.0	127.0	134.0					20																	56138753		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138753G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.931G>A	20.37:g.56138753G>A	ENSP00000319814:p.Asp311Asn					PCK1_uc010zzm.1_Intron	p.D311N	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		6	1094	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		311				Manganese.	A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.931G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099667	0.94197	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.17370	2.28;2.28	5.27	5.27	0.74061	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80274	-0.1451	10	0.87932	D	0	-60.9582	18.8895	0.92392	0.0:0.0:1.0:0.0	.	311	P35558	PCKGC_HUMAN	N	311;179	ENSP00000319814:D311N;ENSP00000444342:D179N	ENSP00000319814:D311N	D	+	1	0	PCK1	55572159	1.000000	0.71417	0.965000	0.40720	0.671000	0.39405	9.338000	0.96553	2.478000	0.83669	0.561000	0.74099	GAC		0.557	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			33	79	0	0	0	0.002445	0	33	79				
ZBP1	81030	broad.mit.edu	37	20	56191346	56191346	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:56191346A>T	ENST00000371173.3	-	2	390	c.213T>A	c.(211-213)acT>acA	p.T71T	ZBP1_ENST00000343535.4_Silent_p.T71T|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000340462.4_Silent_p.T71T|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000541799.1_Silent_p.T71T	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	71					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.T71T(2)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTTCAGGATCAGTCCCGCCCA	0.612																																							uc002xyo.2		NA																	2	Substitution - coding silent(2)		ovary(1)|lung(1)	ovary(2)	2						c.(211-213)ACT>ACA		Z-DNA binding protein 1 isoform a							117.0	106.0	110.0					20																	56191346		2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56191346A>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.213T>A	20.37:g.56191346A>T						ZBP1_uc010gjm.2_Silent_p.T71T|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Silent_p.T71T	p.T71T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		2	494	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		71			DRADA 1.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.213T>A	CCDS13461.1																																																																																				0.612	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		9	60	0	0	0	0.004482	0	9	60				
CDH4	1002	broad.mit.edu	37	20	60348144	60348144	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:60348144C>G	ENST00000360469.5	+	4	570	c.482C>G	c.(481-483)gCc>gGc	p.A161G	CDH4_ENST00000543233.1_Missense_Mutation_p.A87G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	161					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A161G(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACCAGAACGCCAACGGGCTG	0.652																																							uc002ybn.1		NA																	1	Substitution - Missense(1)	p.A161T(1)	lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(481-483)GCC>GGC		cadherin 4, type 1 preproprotein							30.0	29.0	29.0					20																	60348144		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60348144C>G	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.482C>G	20.37:g.60348144C>G	ENSP00000353656:p.Ala161Gly					CDH4_uc002ybp.1_Missense_Mutation_p.A87G	p.A161G	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		4	496	+			161					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.482C>G	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328905	0.24167	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.61040	0.14;0.14	4.84	4.84	0.62591	Cadherin-like (1);	2.299280	0.01531	N	0.018801	T	0.45236	0.1332	N	0.08118	0	0.19575	N	0.999966	B	0.21309	0.054	B	0.18263	0.021	T	0.33803	-0.9854	9	.	.	.	.	16.1255	0.81392	0.0:1.0:0.0:0.0	.	161	P55283	CADH4_HUMAN	G	161;69;87	ENSP00000353656:A161G;ENSP00000443301:A87G	.	A	+	2	0	CDH4	59781539	0.011000	0.17503	0.004000	0.12327	0.004000	0.04260	2.529000	0.45632	2.221000	0.72209	0.655000	0.94253	GCC		0.652	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		5	29	0	0	0	0.001168	0	5	29				
HELZ2	85441	broad.mit.edu	37	20	62199965	62199965	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:62199965C>A	ENST00000467148.1	-	5	1545	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	492					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q492H(1)									GCACCACCAGCTGCTCCTCAG	0.672																																							uc002yfm.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1474-1476)CAG>CAT		PPAR-alpha interacting complex protein 285							12.0	13.0	13.0					20																	62199965		2178	4284	6462	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62199965C>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1476G>T	20.37:g.62199965C>A	ENSP00000417401:p.Gln492His					PRIC285_uc002yfl.1_5'Flank	p.Q492H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	2368	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		492					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1476G>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	1.979	-0.434556	0.04669	.	.	ENSG00000130589	ENST00000467148	T	0.78707	-1.2	4.34	-7.49	0.01355	.	0.936787	0.08839	N	0.886180	T	0.47377	0.1442	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44997	-0.9291	10	0.16420	T	0.52	-6.9578	17.7728	0.88497	0.0:0.7476:0.1145:0.138	.	492	Q9BYK8	PR285_HUMAN	H	492	ENSP00000417401:Q492H	ENSP00000417401:Q492H	Q	-	3	2	RP4-697K14.7	61670409	0.000000	0.05858	0.038000	0.18304	0.015000	0.08874	-1.677000	0.01944	-0.791000	0.04486	-0.344000	0.07964	CAG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	22	1	0	0.004672	0.004672	0.00508113	3	22				
TPTE	7179	broad.mit.edu	37	21	10941907	10941907	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:10941907C>T	ENST00000361285.4	-	14	1125		c.e14+1		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000298232.7_Splice_Site|TPTE_ENST00000342420.5_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGACCCTTACCTTGATTGGA	0.313																																							uc002yip.1		NA																	2	Unknown(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e14+1		transmembrane phosphatase with tensin homology							215.0	203.0	207.0					21																	10941907		2203	4299	6502	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10941907C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.795+1G>A	21.37:g.10941907C>T						TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.K247_splice|TPTE_uc002yir.1_Splice_Site_p.K227_splice|TPTE_uc010gkv.1_Splice_Site_p.K127_splice	p.K265_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	14	1163	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.795_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	5.681	0.310277	0.10733	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	1.8	1.8	0.24995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6369	0.39814	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9963778	1.000000	0.71417	0.825000	0.32803	0.003000	0.03518	5.759000	0.68785	1.318000	0.45170	0.194000	0.17425	.		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	9	192	0	0	0	0.004482	0	9	192				
TMPRSS15	5651	broad.mit.edu	37	21	19698799	19698799	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:19698799C>T	ENST00000284885.3	-	16	1904	c.1871G>A	c.(1870-1872)aGa>aAa	p.R624K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	624	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.R624K(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAACCCTCCTCTTGCCAACAC	0.453																																							uc002ykw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1870-1872)AGA>AAA		enterokinase precursor							232.0	194.0	207.0					21																	19698799		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19698799C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1871G>A	21.37:g.19698799C>T	ENSP00000284885:p.Arg624Lys						p.R624K	NM_002772	NP_002763	P98073	ENTK_HUMAN			16	1902	-			624			Extracellular (Potential).|CUB 2.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1871G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	5.716	0.316678	0.10845	.	.	ENSG00000154646	ENST00000284885	T	0.16073	2.37	5.25	-0.532	0.11890	CUB (5);	0.727644	0.13799	N	0.361925	T	0.06600	0.0169	N	0.05330	-0.07	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40664	-0.9551	9	.	.	.	.	5.8627	0.18757	0.0:0.4034:0.1393:0.4573	.	624	P98073	ENTK_HUMAN	K	624	ENSP00000284885:R624K	.	R	-	2	0	TMPRSS15	18620670	0.000000	0.05858	0.000000	0.03702	0.607000	0.37147	-0.445000	0.06845	-0.056000	0.13221	0.637000	0.83480	AGA		0.453	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		17	126	0	0	0	0.008871	0	17	126				
NCAM2	4685	broad.mit.edu	37	21	22881254	22881254	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:22881254C>T	ENST00000400546.1	+	16	2409	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	NCAM2_ENST00000284894.7_Silent_p.D578D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	720					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D720D(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGGTAACAGACGTCAGCTGCT	0.443																																							uc002yld.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2158-2160)GAC>GAT		neural cell adhesion molecule 2 precursor							104.0	98.0	100.0					21																	22881254		1979	4166	6145	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22881254C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2160C>T	21.37:g.22881254C>T						NCAM2_uc011acb.1_Silent_p.D578D	p.D720D	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	16	2409	+		Lung NSC(9;0.195)	720			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.2160C>T	CCDS42910.1																																																																																				0.443	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		23	60	0	0	0	0.00278	0	23	60				
ADAMTS1	9510	broad.mit.edu	37	21	28210911	28210911	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:28210911C>A	ENST00000284984.3	-	8	2505	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	684	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S684I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGAATCTGGGCTACATGGAGT	0.408																																							uc002ymf.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(2050-2052)AGC>ATC		ADAM metallopeptidase with thrombospondin type 1							89.0	79.0	82.0					21																	28210911		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210911C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2051G>T	21.37:g.28210911C>A	ENSP00000284984:p.Ser684Ile						p.S684I	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	8	2506	-		Breast(209;0.000962)	684			Cys-rich.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.2051G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269205	0.80469	.	.	ENSG00000154734	ENST00000284984	T	0.65549	-0.16	5.53	5.53	0.82687	.	.	.	.	.	T	0.74268	0.3694	M	0.83603	2.65	0.58432	D	0.999999	P	0.43392	0.805	P	0.48030	0.564	T	0.74645	-0.3596	9	0.41790	T	0.15	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	684	Q9UHI8	ATS1_HUMAN	I	684	ENSP00000284984:S684I	ENSP00000284984:S684I	S	-	2	0	ADAMTS1	27132782	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	4.340000	0.59328	2.882000	0.98803	0.655000	0.94253	AGC		0.408	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			11	44	1	0	3.07112e-06	0.000978	3.80187e-06	11	44				
ADAMTS5	11096	broad.mit.edu	37	21	28337778	28337778	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:28337778G>C	ENST00000284987.5	-	1	1054	c.933C>G	c.(931-933)atC>atG	p.I311M		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	311	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I311M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGGCCAGGCGGATGTGGTTCT	0.592																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(931-933)ATC>ATG		ADAM metallopeptidase with thrombospondin type 1							111.0	95.0	100.0					21																	28337778		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28337778G>C	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.933C>G	21.37:g.28337778G>C	ENSP00000284987:p.Ile311Met						p.I311M	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	1662	-			311			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.933C>G	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406087	0.62288	.	.	ENSG00000154736	ENST00000284987	T	0.68331	-0.32	4.88	4.88	0.63580	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.069214	0.64402	D	0.000013	D	0.82595	0.5071	M	0.86028	2.79	0.54753	D	0.999981	D	0.54601	0.967	D	0.69479	0.964	D	0.85501	0.1191	10	0.87932	D	0	.	14.964	0.71176	0.0:0.1534:0.8466:0.0	.	311	Q9UNA0	ATS5_HUMAN	M	311	ENSP00000284987:I311M	ENSP00000284987:I311M	I	-	3	3	ADAMTS5	27259649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.308000	0.33528	2.522000	0.85027	0.655000	0.94253	ATC		0.592	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			18	75	0	0	0	0.007413	0	18	75				
GRIK1	2897	broad.mit.edu	37	21	31023525	31023525	+	Silent	SNP	G	G	A	rs146591187		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:31023525G>A	ENST00000399907.1	-	6	1278	c.867C>T	c.(865-867)caC>caT	p.H289H	GRIK1_ENST00000389124.2_Silent_p.H289H|GRIK1_ENST00000399914.1_Silent_p.H289H|GRIK1_ENST00000535441.1_Silent_p.H289H|GRIK1_ENST00000399913.1_Silent_p.H289H|GRIK1_ENST00000327783.4_Silent_p.H289H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Silent_p.H289H|GRIK1_ENST00000309434.7_Silent_p.H289H|GRIK1_ENST00000399909.1_Silent_p.H289H	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	289					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.H289H(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGGATGACACGTGAGGGTTGT	0.488																																							uc002yno.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(865-867)CAC>CAT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)	G	,	0,4406		0,0,2203	87.0	72.0	77.0		867,867	-7.0	0.3	21	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	289/919,289/906	31023525	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023525G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.867C>T	21.37:g.31023525G>A						GRIK1_uc002ynn.2_Silent_p.H289H|GRIK1_uc011acs.1_Silent_p.H289H|GRIK1_uc011act.1_Silent_p.H233H|GRIK1_uc010glq.1_Silent_p.H147H|GRIK1_uc002ynr.2_Silent_p.H289H	p.H289H	NM_000830	NP_000821	P39086	GRIK1_HUMAN			6	1331	-			289			Extracellular (Potential).		Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.867C>T	CCDS42913.1																																																																																				0.488	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			6	58	0	0	0	0.001984	0	6	58				
KRTAP19-6	337973	broad.mit.edu	37	21	31914007	31914007	+	Missense_Mutation	SNP	C	C	T	rs146590456	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:31914007C>T	ENST00000334046.5	-	1	176	c.146G>A	c.(145-147)cGt>cAt	p.R49H		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	49						intermediate filament (GO:0005882)		p.R49H(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						ATATCCTTCACGGCATGATGG	0.493																																							uc002yok.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(145-147)CGT>CAT		keratin associated protein 19-6		T	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	119.0	115.0		146	-1.2	0.0	21	dbSNP_134	115	0,8600		0,0,4300	no	missense	KRTAP19-6	NM_181612.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	49/59	31914007	1,13005	2203	4300	6503	SO:0001583	missense	337973					intermediate filament		g.chr21:31914007C>T	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.146G>A	21.37:g.31914007C>T	ENSP00000375107:p.Arg49His						p.R49H	NM_181612	NP_853643	Q3LI70	KR196_HUMAN			1	175	-			49					Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	c.146G>A	CCDS13598.1	.	.	.	.	.	.	.	.	.	.	c	8.758	0.922817	0.18056	2.27E-4	0.0	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.09163	3.01	4.39	-1.21	0.09524	.	1.153980	0.07023	N	0.827077	T	0.07908	0.0198	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.08055	0.003	T	0.41305	-0.9516	9	0.87932	D	0	3.6947	5.0821	0.14663	0.0:0.4052:0.1729:0.4219	.	49	Q3LI70	KR196_HUMAN	H	49	ENSP00000375107:R49H	ENSP00000375107:R49H	R	-	2	0	KRTAP19-6	30835878	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.711000	0.00386	-0.097000	0.12307	-0.334000	0.08254	CGT		0.493	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			18	191	0	0	0	0.00499	0	18	191				
KRTAP19-7	337974	broad.mit.edu	37	21	31933543	31933543	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:31933543G>A	ENST00000334849.2	-	1	90	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	22						intermediate filament (GO:0005882)		p.G22G(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						TATAGCCATAGCCCAGGCCAC	0.557																																							uc011adb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)GGC>GGT		keratin associated protein 19-7							139.0	125.0	130.0					21																	31933543		2203	4300	6503	SO:0001819	synonymous_variant	337974					intermediate filament		g.chr21:31933543G>A	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.66C>T	21.37:g.31933543G>A							p.G22G	NM_181614	NP_853645	Q3SYF9	KR197_HUMAN			1	66	-			22					Q08EP7	Silent	SNP	ENST00000334849.2	37	c.66C>T	CCDS13599.1																																																																																				0.557	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			12	112	0	0	0	0.001855	0	12	112				
KRTAP21-2	337978	broad.mit.edu	37	21	32119316	32119317	+	Missense_Mutation	DNP	CA	CA	TC			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:32119316_32119317CA>TC	ENST00000333892.2	-	1	234_235	c.204_205TG>GA	c.(202-207)tgTGgc>tgGAgc	p.68_69CG>WS		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	68						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)	p.C68_G69>WS(1)		lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GGTCGGTAGCCACAGCAGCTAG	0.5																																							uc011adh.1		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(202-207)TGTGGC>TGGAGC		keratin associated protein 21-2																																				SO:0001583	missense	337978					intermediate filament		g.chr21:32119316_32119317CA>TC	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.204_205delinsTC	21.37:g.32119316_32119317delinsTC	ENSP00000334287:p.C68_G69delinsWS						p.68_69CG>WS	NM_181617	NP_853648	Q3LI59	KR212_HUMAN			1	204_205	-			68_69						Missense_Mutation	DNP	ENST00000333892.2	37	c.204_205TG>GA	CCDS13605.1																																																																																				0.500	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			13	125	0	0	0	0.004672	0	13	125				
PRDM15	63977	broad.mit.edu	37	21	43223078	43223078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:43223078C>A	ENST00000269844.3	-	30	3945	c.3835G>T	c.(3835-3837)Gag>Tag	p.E1279*	PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E933*|PRDM15_ENST00000422911.1_Nonsense_Mutation_p.E970*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E913*|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E950*|PRDM15_ENST00000470586.1_5'UTR	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1279					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)	p.E1279*(1)		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						AGAGTCAGCTCAGGCTGCAGA	0.592																																							uc002yzq.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(3835-3837)GAG>TAG		PR domain containing 15 isoform 1							90.0	100.0	96.0					21																	43223078		2203	4300	6503	SO:0001587	stop_gained	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43223078C>A	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.3835G>T	21.37:g.43223078C>A	ENSP00000269844:p.Glu1279*					PRDM15_uc002yzo.2_Nonsense_Mutation_p.E950*|PRDM15_uc002yzp.2_Nonsense_Mutation_p.E970*|PRDM15_uc002yzr.1_Nonsense_Mutation_p.E970*	p.E1279*	NM_022115	NP_071398	P57071	PRD15_HUMAN			30	3946	-			1279					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Nonsense_Mutation	SNP	ENST00000269844.3	37	c.3835G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	43	9.877453	0.99285	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-25.3445	17.092	0.86624	0.0:1.0:0.0:0.0	.	.	.	.	X	970;950;933;913;1279	.	ENSP00000269844:E1279X	E	-	1	0	PRDM15	42096147	0.962000	0.33011	0.991000	0.47740	0.842000	0.47809	2.186000	0.42593	2.266000	0.75297	0.479000	0.44913	GAG		0.592	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		19	152	1	0	9.7654e-05	0.007413	0.000113243	19	152				
POFUT2	23275	broad.mit.edu	37	21	46689913	46689913	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:46689913C>A	ENST00000349485.5	-	7	879	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Missense_Mutation_p.G285W	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	285					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.G285W(2)|p.G285R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TAGGGGCCCCCTAGCGCGGAG	0.602																																							uc002zhc.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(853-855)GGG>TGG		protein O-fucosyltransferase 2 isoform C							40.0	45.0	44.0					21																	46689913		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46689913C>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.853G>T	21.37:g.46689913C>A	ENSP00000339613:p.Gly285Trp					POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.G285W	p.G285W	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	7	878	-			285					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.853G>T	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659678|2.659678	0.47572|0.47572	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000331343;ENST00000349485|ENST00000451615	T;T|.	0.34859|.	1.34;1.34|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77552|0.77552	0.4147|0.4147	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.80111|0.80111	-0.1519|-0.1519	10|5	0.87932|.	D|.	0|.	-36.089|-36.089	15.4489|15.4489	0.75257|0.75257	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285;285|.	Q9Y2G5-1;Q9Y2G5|.	.;OFUT2_HUMAN|.	W|M	285|207	ENSP00000329682:G285W;ENSP00000339613:G285W|.	ENSP00000329682:G285W|.	G|R	-|-	1|2	0|0	POFUT2|POFUT2	45514341|45514341	1.000000|1.000000	0.71417|0.71417	0.414000|0.414000	0.26521|0.26521	0.007000|0.007000	0.05969|0.05969	7.158000|7.158000	0.77470|0.77470	2.305000|2.305000	0.77605|0.77605	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.602	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		8	48	1	0	0.00448238	0.004482	0.00488872	8	48				
COL18A1	80781	broad.mit.edu	37	21	46875463	46875463	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:46875463G>A	ENST00000359759.4	+	1	40	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.G7S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	7					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.G7S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTACCCCTGTGGCTGCCACAT	0.672																																							uc011afs.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(19-21)GGC>AGC		alpha 1 type XVIII collagen isoform 3 precursor							28.0	37.0	34.0					21																	46875463		2075	4203	6278	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875463G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.19G>A	21.37:g.46875463G>A	ENSP00000352798:p.Gly7Ser					COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Missense_Mutation_p.G7S	p.G7S	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	40	+			7					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.19G>A		.	.	.	.	.	.	.	.	.	.	G	7.776	0.708453	0.15239	.	.	ENSG00000182871	ENST00000355480;ENST00000359759;ENST00000539645	D;D	0.93811	-3.29;-2.79	2.47	-1.92	0.07618	.	.	.	.	.	T	0.81650	0.4867	N	0.04880	-0.145	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.10450	0.002;0.005	T	0.69383	-0.5160	9	0.87932	D	0	.	3.8666	0.09019	0.3821:0.184:0.4339:0.0	.	7;7	P39060;P39060-1	COIA1_HUMAN;.	S	7	ENSP00000347665:G7S;ENSP00000352798:G7S	ENSP00000347665:G7S	G	+	1	0	COL18A1	45699891	0.000000	0.05858	0.029000	0.17559	0.013000	0.08279	-1.104000	0.03326	-0.528000	0.06366	0.491000	0.48974	GGC		0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			7	49	0	0	0	0.00308	0	7	49				
COL6A1	1291	broad.mit.edu	37	21	47410292	47410292	+	Splice_Site	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47410292G>C	ENST00000361866.3	+	13	1072	c.958G>C	c.(958-960)Gga>Cga	p.G320R		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	320	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.G320R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CGCCTCACAGGGAGAGAAGGG	0.642																																							uc002zhu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)GGA>CGA		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						44.0	40.0	41.0					21																	47410292		2203	4299	6502	SO:0001630	splice_region_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410292G>C	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.958-1G>C	21.37:g.47410292G>C							p.G320R	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	13	1060	+	all_hematologic(128;0.24)		320			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.958G>C	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512888	0.85389	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99637	-6.29	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96476	0.9352	9	.	.	.	-11.2482	16.8324	0.85948	0.0:0.0:1.0:0.0	.	320	P12109	CO6A1_HUMAN	R	320	ENSP00000355180:G320R	.	G	+	1	0	COL6A1	46234720	1.000000	0.71417	0.998000	0.56505	0.677000	0.39632	7.764000	0.85297	2.206000	0.71126	0.655000	0.94253	GGA		0.642	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	Missense_Mutation	3	57	0	0	0	0.004672	0	3	57				
LSS	4047	broad.mit.edu	37	21	47611049	47611049	+	Missense_Mutation	SNP	T	T	A	rs370918191		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47611049T>A	ENST00000397728.3	-	22	2246	c.2168A>T	c.(2167-2169)tAc>tTc	p.Y723F	AP001468.58_ENST00000415026.1_RNA|LSS_ENST00000457828.2_Missense_Mutation_p.Y643F|LSS_ENST00000522411.1_Missense_Mutation_p.Y712F|LSS_ENST00000356396.4_Missense_Mutation_p.Y723F	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	723					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.Y723F(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCTCTCAGGGTACAGCTGGGA	0.612																																					Pancreas(114;955 2313 34923 50507)	Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2167-2169)TAC>TTC		lanosterol synthase isoform 1							88.0	89.0	88.0					21																	47611049		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47611049T>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.2168A>T	21.37:g.47611049T>A	ENSP00000380837:p.Tyr723Phe					LSS_uc011afv.1_Missense_Mutation_p.Y712F|LSS_uc002zil.2_Missense_Mutation_p.Y723F|LSS_uc002zik.2_Missense_Mutation_p.Y643F	p.Y723F	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			22	2247	-	Breast(49;0.214)		723					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.2168A>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129570	0.77549	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.57	5.57	0.84162	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.387063	0.29806	N	0.011141	T	0.32793	0.0841	L	0.37507	1.11	0.48571	D	0.999672	D;P	0.60160	0.987;0.926	D;P	0.63192	0.912;0.751	T	0.02404	-1.1164	10	0.22109	T	0.4	.	15.3828	0.74673	0.0:0.0:0.0:1.0	.	712;723	E9PEI9;P48449	.;ERG7_HUMAN	F	723;643;723;712	ENSP00000348762:Y723F;ENSP00000409191:Y643F;ENSP00000380837:Y723F;ENSP00000429133:Y712F	ENSP00000348762:Y723F	Y	-	2	0	LSS	46435477	1.000000	0.71417	0.978000	0.43139	0.270000	0.26580	7.500000	0.81588	2.123000	0.65237	0.477000	0.44152	TAC		0.612	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			7	57	0	0	0	0.001984	0	7	57				
PCNT	5116	broad.mit.edu	37	21	47768970	47768970	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47768970A>T	ENST00000359568.5	+	7	1184	c.1077A>T	c.(1075-1077)gaA>gaT	p.E359D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	359	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E359D(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TATGTTTAGAAAATCTACGCA	0.328																																							uc002zji.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(1075-1077)GAA>GAT		pericentrin							91.0	104.0	100.0					21																	47768970		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47768970A>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1077A>T	21.37:g.47768970A>T	ENSP00000352572:p.Glu359Asp					PCNT_uc002zjj.2_Missense_Mutation_p.E241D|PCNT_uc010gqk.1_RNA	p.E359D	NM_006031	NP_006022	O95613	PCNT_HUMAN			7	1184	+	Breast(49;0.112)		359			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1077A>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948867	0.53186	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01963	4.53	5.87	4.71	0.59529	.	0.521289	0.14408	N	0.321450	T	0.06005	0.0156	L	0.47716	1.5	0.09310	N	0.999995	D;D	0.57257	0.974;0.979	P;P	0.56216	0.794;0.679	T	0.31888	-0.9927	10	0.51188	T	0.08	.	10.232	0.43260	0.9242:0.0:0.0758:0.0	.	241;359	O95613-2;O95613	.;PCNT_HUMAN	D	359;346	ENSP00000352572:E359D	ENSP00000338675:E346D	E	+	3	2	PCNT	46593398	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	3.116000	0.50399	2.277000	0.76020	0.514000	0.50259	GAA		0.328	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		49	112	0	0	0	0.00361	0	49	112				
DIP2A	23181	broad.mit.edu	37	21	47977571	47977571	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr21:47977571G>A	ENST00000417564.2	+	31	3724	c.3703G>A	c.(3703-3705)Gcc>Acc	p.A1235T	DIP2A_ENST00000318711.7_Missense_Mutation_p.A1236T|DIP2A_ENST00000400274.1_Missense_Mutation_p.A1231T			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1235					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1235T(1)|p.A1236T(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTGGCTGTCGGCCGTCAGCCA	0.632																																							uc002zjo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3703-3705)GCC>ACC		disco-interacting protein 2A isoform a							25.0	34.0	31.0					21																	47977571		2103	4239	6342	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47977571G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3703G>A	21.37:g.47977571G>A	ENSP00000392066:p.Ala1235Thr					DIP2A_uc011afz.1_Missense_Mutation_p.A1231T|DIP2A_uc002zjr.2_Missense_Mutation_p.A202T	p.A1235T	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	31	3886	+	Breast(49;0.0933)		1235					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.3703G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723426	0.48728	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.41758	0.99;0.99;0.99	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	N	0.25060	0.705	0.80722	D	1	B;D;B	0.76494	0.009;0.999;0.01	B;D;B	0.85130	0.027;0.997;0.027	T	0.32877	-0.9890	10	0.16420	T	0.52	-32.5559	19.3095	0.94179	0.0:0.0:1.0:0.0	.	1236;26;1235	E9PER1;Q9NSX6;Q14689	.;.;DIP2A_HUMAN	T	1231;1236;1235	ENSP00000383133:A1231T;ENSP00000323633:A1236T;ENSP00000392066:A1235T	ENSP00000323633:A1236T	A	+	1	0	DIP2A	46801999	1.000000	0.71417	0.963000	0.40424	0.940000	0.58332	4.022000	0.57203	2.804000	0.96469	0.655000	0.94253	GCC		0.632	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		9	26	0	0	0	0.004482	0	9	26				
CCT8L2	150160	broad.mit.edu	37	22	17072298	17072298	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:17072298G>T	ENST00000359963.3	-	1	1402	c.1143C>A	c.(1141-1143)acC>acA	p.T381T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	381					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.T381T(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCCCTGGGTGGTGGCTCCCC	0.572																																							uc002zlp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1141-1143)ACC>ACA		T-complex protein 1							84.0	81.0	82.0					22																	17072298		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072298G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1143C>A	22.37:g.17072298G>T							p.T381T	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1403	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	381					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.1143C>A	CCDS13738.1																																																																																				0.572	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			16	88	1	0	1.02788e-11	0.00499	1.54584e-11	16	88				
BID	637	broad.mit.edu	37	22	18226769	18226769	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:18226769C>T	ENST00000399774.3	-	3	192	c.23G>A	c.(22-24)gGt>gAt	p.G8D	BID_ENST00000399767.1_5'UTR|BID_ENST00000551952.1_Missense_Mutation_p.G8D|BID_ENST00000342111.5_Missense_Mutation_p.G8D|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Intron|BID_ENST00000317361.7_Missense_Mutation_p.G54D	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	8					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.G54D(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GAGGCTGGAACCGTTGTTGAC	0.587																																							uc002znd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(22-24)GGT>GAT		BH3 interacting domain death agonist isoform 2							93.0	89.0	91.0					22																	18226769		2203	4300	6503	SO:0001583	missense	637				activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	g.chr22:18226769C>T	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.23G>A	22.37:g.18226769C>T	ENSP00000382674:p.Gly8Asp					BID_uc002znc.1_Missense_Mutation_p.G54D|BID_uc002zne.1_5'UTR|BID_uc010gra.1_RNA|BID_uc002znf.1_Intron|BID_uc010grb.1_Missense_Mutation_p.G8D|BID_uc010grc.1_Intron	p.G8D	NM_001196	NP_001187	P55957	BID_HUMAN		Lung(27;0.0419)	3	193	-		all_epithelial(15;0.198)	8					Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	c.23G>A	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992730	0.35131	.	.	ENSG00000015475	ENST00000317361;ENST00000399774;ENST00000342111;ENST00000551952	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.05	4.01	0.46588	.	0.111753	0.39341	N	0.001385	T	0.63343	0.2503	M	0.62723	1.935	0.46631	D	0.999138	D;D	0.71674	0.994;0.998	D;D	0.73708	0.972;0.981	T	0.66870	-0.5814	10	0.87932	D	0	.	11.9743	0.53083	0.0:0.8244:0.1755:0.0	.	8;54	P55957;P55957-2	BID_HUMAN;.	D	54;8;8;8	ENSP00000318822:G54D;ENSP00000382674:G8D;ENSP00000344594:G8D;ENSP00000449236:G8D	ENSP00000318822:G54D	G	-	2	0	BID	16606769	0.336000	0.24757	0.332000	0.25469	0.035000	0.12851	3.497000	0.53295	1.414000	0.47017	0.561000	0.74099	GGT		0.587	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		11	109	0	0	0	0.001368	0	11	109				
TXNRD2	10587	broad.mit.edu	37	22	19864759	19864759	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:19864759T>A	ENST00000400521.1	-	17	1452		c.e17-2		TXNRD2_ENST00000535882.1_Splice_Site|TXNRD2_ENST00000542719.1_Splice_Site|TXNRD2_ENST00000400518.1_Splice_Site|TXNRD2_ENST00000400519.1_Splice_Site	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2						cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.?(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GCCCCACACCTGCACATGGGG	0.657																																							uc011ahc.1		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e17-1		thioredoxin reductase 2 precursor							27.0	29.0	28.0					22																	19864759		1988	4157	6145	SO:0001630	splice_region_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19864759T>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1446-2A>T	22.37:g.19864759T>A						TXNRD2_uc002zql.1_Splice_Site_p.K236_splice|TXNRD2_uc002zqm.1_Splice_Site|TXNRD2_uc002zqn.1_Splice_Site|TXNRD2_uc002zqo.1_Intron|TXNRD2_uc002zqp.1_Splice_Site|TXNRD2_uc002zqr.1_Intron|TXNRD2_uc002zqj.1_Splice_Site|TXNRD2_uc002zqq.1_Intron	p.K482_splice	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			17	1479	-	Colorectal(54;0.0993)							O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Splice_Site	SNP	ENST00000400521.1	37	c.1446_splice	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	t	12.76	2.035982	0.35893	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9052	0.58147	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNRD2	18244759	1.000000	0.71417	0.934000	0.37439	0.249000	0.25844	6.528000	0.73807	1.966000	0.57179	0.454000	0.30748	.		0.657	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440	Intron	6	23	0	0	0	0.001984	0	6	23				
PI4KA	5297	broad.mit.edu	37	22	21152932	21152932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:21152932C>A	ENST00000572273.1	-	17	2104	c.1874G>T	c.(1873-1875)aGt>aTt	p.S625I	PI4KA_ENST00000255882.6_Missense_Mutation_p.S683I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	625					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.S625I(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCCTTCACACTGATCTGCTG	0.488																																					GBM(136;1332 1831 3115 23601 50806)	GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(1873-1875)AGT>ATT		phosphatidylinositol 4-kinase type 3 alpha							207.0	179.0	189.0					22																	21152932		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21152932C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1874G>T	22.37:g.21152932C>A	ENSP00000458238:p.Ser625Ile					PI4KA_uc010gsq.1_Missense_Mutation_p.S683I	p.S625I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		17	2105	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	625					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.1874G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.246687	0.95305	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	L	0.34521	1.04	0.80722	D	1	P;P	0.50443	0.935;0.804	P;P	0.53401	0.725;0.635	T	0.63120	-0.6708	9	0.51188	T	0.08	-14.6397	17.9268	0.88986	0.0:1.0:0.0:0.0	.	683;625	D3DX33;P42356	.;PI4KA_HUMAN	I	625	.	ENSP00000255882:S625I	S	-	2	0	PI4KA	19482932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.482000	0.83794	0.491000	0.48974	AGT		0.488	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		28	126	1	0	6.07407e-21	0.007291	1.0522e-20	28	126				
LZTR1	8216	broad.mit.edu	37	22	21343120	21343120	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:21343120T>C	ENST00000215739.8	+	6	911	c.552T>C	c.(550-552)agT>agC	p.S184S	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.S165S	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	184					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S184S(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGTGTACAGTGACAAGCTGT	0.652																																							uc002zto.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(550-552)AGT>AGC		leucine-zipper-like transcription regulator 1							176.0	134.0	148.0					22																	21343120		2203	4300	6503	SO:0001819	synonymous_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21343120T>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.552T>C	22.37:g.21343120T>C						LZTR1_uc002ztn.2_Silent_p.S143S|LZTR1_uc011ahy.1_Silent_p.S165S|LZTR1_uc010gsr.1_Silent_p.S55S	p.S184S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		6	655	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	184			Kelch 2.		Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	c.552T>C	CCDS33606.1																																																																																				0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		7	129	0	0	0	0.006214	0	7	129				
ZNF280A	129025	broad.mit.edu	37	22	22868570	22868570	+	Missense_Mutation	SNP	G	G	A	rs201466267		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:22868570G>A	ENST00000302097.3	-	2	1637	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	462					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.T462M(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTCCTTCAACGTCAAAAACTG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		17080	0.0		0.001	False		,,,				2504	0.0						uc002zwe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1384-1386)ACG>ATG		zinc finger protein 280A							105.0	101.0	102.0					22																	22868570		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868570G>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1385C>T	22.37:g.22868570G>A	ENSP00000302855:p.Thr462Met					LOC96610_uc011aim.1_Intron	p.T462M	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1638	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	462			C2H2-type 4.			Missense_Mutation	SNP	ENST00000302097.3	37	c.1385C>T	CCDS13800.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.72	2.021631	0.35701	.	.	ENSG00000169548	ENST00000302097	T	0.61158	0.13	3.76	-0.723	0.11181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.68970	0.3059	M	0.69523	2.12	0.09310	N	0.999999	D	0.89917	1.0	D	0.67231	0.95	T	0.58808	-0.7571	9	0.59425	D	0.04	0.014	8.7628	0.34685	0.0:0.4063:0.4432:0.1505	.	462	P59817	Z280A_HUMAN	M	462	ENSP00000302855:T462M	ENSP00000302855:T462M	T	-	2	0	ZNF280A	21198570	0.117000	0.22190	0.004000	0.12327	0.528000	0.34623	1.130000	0.31393	-0.005000	0.14395	0.655000	0.94253	ACG		0.423	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		11	139	0	0	0	0.008291	0	11	139				
TMEM211	255349	broad.mit.edu	37	22	25334188	25334188	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:25334188A>G	ENST00000423535.1	-	2	267	c.268T>C	c.(268-270)Tgg>Cgg	p.W90R	TMEM211_ENST00000382744.1_Missense_Mutation_p.W19R|TMEM211_ENST00000407886.1_Missense_Mutation_p.W19R			Q6ICI0	TM211_HUMAN	transmembrane protein 211	90						integral component of membrane (GO:0016021)		p.W19R(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCCACAGCCCAAGACAGGAGG	0.552																																							uc003abk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(55-57)TGG>CGG		transmembrane protein 211							89.0	75.0	80.0					22																	25334188		2203	4300	6503	SO:0001583	missense	255349					integral to membrane		g.chr22:25334188A>G		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.268T>C	22.37:g.25334188A>G	ENSP00000387813:p.Trp90Arg						p.W19R	NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN			2	80	-			90						Missense_Mutation	SNP	ENST00000423535.1	37	c.55T>C		.	.	.	.	.	.	.	.	.	.	A	17.19	3.327003	0.60743	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	T;T;T	0.78003	-1.14;-0.52;-1.14	4.17	4.17	0.49024	.	0.176756	0.39615	N	0.001317	D	0.85544	0.5721	M	0.69823	2.125	0.44129	D	0.996915	D	0.76494	0.999	D	0.72338	0.977	D	0.86963	0.2093	10	0.87932	D	0	-39.8992	11.5182	0.50536	1.0:0.0:0.0:0.0	.	90	Q6ICI0	TM211_HUMAN	R	19;90;19	ENSP00000385494:W19R;ENSP00000387813:W90R;ENSP00000372192:W19R	ENSP00000372192:W19R	W	-	1	0	TMEM211	23664188	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	4.450000	0.60041	1.882000	0.54519	0.454000	0.30748	TGG		0.552	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		17	62	0	0	0	0.007413	0	17	62				
SEZ6L	23544	broad.mit.edu	37	22	26688935	26688935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:26688935G>T	ENST00000248933.6	+	2	753	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000529632.2_Nonsense_Mutation_p.E220*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.E220*			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	220					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.E220*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAGAGGCCAGAACCCGGGGA	0.647																																							uc003acb.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(658-660)GAA>TAA		seizure related 6 homolog (mouse)-like							36.0	41.0	40.0					22																	26688935		2198	4294	6492	SO:0001587	stop_gained	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688935G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.658G>T	22.37:g.26688935G>T	ENSP00000248933:p.Glu220*					SEZ6L_uc003acc.2_Nonsense_Mutation_p.E220*|SEZ6L_uc011akc.1_Nonsense_Mutation_p.E220*|SEZ6L_uc003acd.2_Nonsense_Mutation_p.E220*|SEZ6L_uc011akd.1_Nonsense_Mutation_p.E220*|SEZ6L_uc003ace.2_Nonsense_Mutation_p.E220*|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	p.E220*	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			2	814	+			220			Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Nonsense_Mutation	SNP	ENST00000248933.6	37	c.658G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	37	6.257109	0.97417	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	.	.	.	4.36	3.31	0.37934	.	0.993514	0.08148	U	0.990449	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.9426	0.35740	0.0:0.1561:0.6722:0.1717	.	.	.	.	X	220	.	ENSP00000248933:E220X	E	+	1	0	SEZ6L	25018935	0.033000	0.19621	0.001000	0.08648	0.114000	0.19823	2.187000	0.42602	0.916000	0.36871	0.405000	0.27470	GAA		0.647	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			16	62	1	0	6.49762e-13	0.006122	1.00164e-12	16	62				
TFIP11	24144	broad.mit.edu	37	22	26902740	26902740	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:26902740C>T	ENST00000407690.1	-	5	647		c.e5+1		TFIP11_ENST00000405938.1_Splice_Site|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407431.1_Splice_Site|TFIP11_ENST00000407148.1_Splice_Site	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11						biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)	p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAGAGACTACCGTTTTTAGC	0.458																																							uc003acr.2		NA																	1	Unknown(1)		lung(1)		0						c.e4+1		tuftelin interacting protein 11							114.0	106.0	109.0					22																	26902740		2203	4300	6503	SO:0001630	splice_region_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26902740C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.363+1G>A	22.37:g.26902740C>T						TFIP11_uc003acs.2_Splice_Site_p.T121_splice|TFIP11_uc003act.2_Splice_Site_p.T121_splice	p.T121_splice	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			4	737	-								O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Splice_Site	SNP	ENST00000407690.1	37	c.363_splice	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364260	0.61513	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4905	0.90844	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFIP11	25232740	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.196000	0.58407	2.602000	0.87976	0.650000	0.86243	.		0.458	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697	Intron	15	78	0	0	0	0.00499	0	15	78				
CRYBB1	1414	broad.mit.edu	37	22	27012132	27012132	+	Missense_Mutation	SNP	G	G	C	rs144920095	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:27012132G>C	ENST00000215939.2	-	2	282	c.152C>G	c.(151-153)gCg>gGg	p.A51G		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	51	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.A51G(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CAGTTCCGCCGCCTTGGCGCT	0.637																																							uc003acy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)GCG>GGG		crystallin, beta B1							93.0	83.0	86.0					22																	27012132		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:27012132G>C		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.152C>G	22.37:g.27012132G>C	ENSP00000215939:p.Ala51Gly						p.A51G	NM_001887	NP_001878	P53674	CRBB1_HUMAN			2	222	-			51			N-terminal arm.			Missense_Mutation	SNP	ENST00000215939.2	37	c.152C>G	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	g	5.846	0.340349	0.11069	.	.	ENSG00000100122	ENST00000215939	T	0.75589	-0.95	4.2	-8.39	0.00969	.	3.745420	0.01053	N	0.004504	T	0.47600	0.1454	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.40720	-0.9548	10	0.24483	T	0.36	.	3.7544	0.08579	0.4466:0.1012:0.3513:0.101	.	51	P53674	CRBB1_HUMAN	G	51	ENSP00000215939:A51G	ENSP00000215939:A51G	A	-	2	0	CRYBB1	25342132	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.249000	0.01188	-2.096000	0.00852	-0.320000	0.08662	GCG		0.637	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		14	47	0	0	0	0.003163	0	14	47				
PES1	23481	broad.mit.edu	37	22	30974931	30974931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:30974931G>A	ENST00000405677.1	-	16	2102	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PES1_ENST00000335214.6_Nonsense_Mutation_p.Q521*|PES1_ENST00000402281.1_Nonsense_Mutation_p.Q387*|PES1_ENST00000354694.7_Nonsense_Mutation_p.Q526*|PES1_ENST00000402284.3_Nonsense_Mutation_p.Q509*	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1									p.Q526*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCCTCCTCCTGGGCCAGCCGC	0.567																																							uc003aij.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1576-1578)CAG>TAG		pescadillo homolog 1, containing BRCT domain							47.0	47.0	47.0					22																	30974931		2203	4300	6503	SO:0001587	stop_gained	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30974931G>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1159C>T	22.37:g.30974931G>A	ENSP00000385654:p.Gln387*					PES1_uc003aik.1_Nonsense_Mutation_p.Q521*|PES1_uc003ail.1_Nonsense_Mutation_p.Q509*|PES1_uc003aim.1_Nonsense_Mutation_p.Q525*|PES1_uc003ain.1_Nonsense_Mutation_p.Q387*|PES1_uc003aio.1_Nonsense_Mutation_p.Q387*	p.Q526*	NM_014303	NP_055118	O00541	PESC_HUMAN			14	1650	-			526			Glu-rich.			Nonsense_Mutation	SNP	ENST00000405677.1	37	c.1576C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.281790|12.281790	0.99653|0.99653	.|.	.|.	ENSG00000100029|ENSG00000100029	ENST00000441668|ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	.|.	.|.	.|.	4.69|4.69	3.63|3.63	0.41609|0.41609	.|.	.|0.066042	.|0.64402	.|D	.|0.000007	T|.	0.34135|.	0.0887|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13124|.	-1.0521|.	4|.	.|0.02654	.|T	.|1	-16.2953|-16.2953	12.4087|12.4087	0.55455|0.55455	0.0:0.1698:0.8301:0.0|0.0:0.1698:0.8301:0.0	.|.	.|.	.|.	.|.	L|X	131|526;387;387;509;521	.|.	.|ENSP00000334612:Q521X	P|Q	-|-	2|1	0|0	PES1|PES1	29304931|29304931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.164000|3.164000	0.50770|0.50770	0.911000|0.911000	0.36747|0.36747	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.567	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		5	50	0	0	0	0.001984	0	5	50				
MORC2	22880	broad.mit.edu	37	22	31342403	31342403	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:31342403C>A	ENST00000397641.3	-	6	759	c.351G>T	c.(349-351)ctG>ctT	p.L117L	MORC2_ENST00000215862.4_Silent_p.L55L			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	117						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L55L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCTTGGTGAACAGGATAAAAT	0.463																																							uc003aje.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(163-165)CTG>CTT		MORC family CW-type zinc finger 2							214.0	174.0	188.0					22																	31342403		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31342403C>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.351G>T	22.37:g.31342403C>A							p.L55L	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			7	1529	-			117					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.165G>T																																																																																					0.463	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		44	172	1	0	3.86236e-30	0.00361	7.14908e-30	44	172				
PLA2G3	50487	broad.mit.edu	37	22	31533819	31533819	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:31533819G>C	ENST00000215885.3	-	4	1195	c.943C>G	c.(943-945)Cag>Gag	p.Q315E		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	315					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)	p.Q315E(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GACCCTTTCTGATGTGGTGGC	0.672																																							uc003aka.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(943-945)CAG>GAG		phospholipase A2, group III precursor							110.0	122.0	118.0					22																	31533819		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31533819G>C	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.943C>G	22.37:g.31533819G>C	ENSP00000215885:p.Gln315Glu						p.Q315E	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			4	1072	-			315					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.943C>G	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	G	6.834	0.523056	0.13066	.	.	ENSG00000100078	ENST00000215885	T	0.11495	2.77	4.76	0.239	0.15484	.	2.263790	0.01311	N	0.010611	T	0.10121	0.0248	L	0.46157	1.445	0.09310	N	1	B	0.29716	0.255	B	0.22152	0.038	T	0.24440	-1.0160	10	0.31617	T	0.26	-3.5176	3.9228	0.09251	0.336:0.0:0.5058:0.1582	.	315	Q9NZ20	PA2G3_HUMAN	E	315	ENSP00000215885:Q315E	ENSP00000215885:Q315E	Q	-	1	0	PLA2G3	29863819	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.273000	0.18662	0.050000	0.15949	-0.140000	0.14226	CAG		0.672	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		12	201	0	0	0	0.00245	0	12	201				
HMOX1	3162	broad.mit.edu	37	22	35789515	35789515	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:35789515A>T	ENST00000216117.8	+	5	1130	c.791A>T	c.(790-792)cAg>cTg	p.Q264L		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	264					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.Q264L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	ACCCGCTCCCAGGCTCCGCTT	0.582																																							uc003ant.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(790-792)CAG>CTG		heme oxygenase (decyclizing) 1	NADH(DB00157)						147.0	153.0	151.0					22																	35789515		2203	4300	6503	SO:0001583	missense	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35789515A>T		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.791A>T	22.37:g.35789515A>T	ENSP00000216117:p.Gln264Leu						p.Q264L	NM_002133	NP_002124	P09601	HMOX1_HUMAN			5	871	+			264						Missense_Mutation	SNP	ENST00000216117.8	37	c.791A>T	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.980013	0.34942	.	.	ENSG00000100292	ENST00000216117	T	0.18338	2.22	5.57	-0.915	0.10494	.	0.860965	0.10393	N	0.680220	T	0.12220	0.0297	L	0.44542	1.39	0.19300	N	0.999976	B	0.06786	0.001	B	0.04013	0.001	T	0.37033	-0.9723	10	0.22706	T	0.39	-4.785	6.0263	0.19656	0.4373:0.4073:0.1553:0.0	.	264	P09601	HMOX1_HUMAN	L	264	ENSP00000216117:Q264L	ENSP00000216117:Q264L	Q	+	2	0	HMOX1	34119515	0.010000	0.17322	0.069000	0.20011	0.174000	0.22865	0.059000	0.14322	-0.190000	0.10465	-0.353000	0.07706	CAG		0.582	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			45	171	0	0	0	0.009718	0	45	171				
TRIOBP	11078	broad.mit.edu	37	22	38121726	38121726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:38121726G>T	ENST00000406386.3	+	7	3418	c.3163G>T	c.(3163-3165)Gag>Tag	p.E1055*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1055					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCCCACCACGAGCCTCCCTA	0.662																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(3163-3165)GAG>TAG		TRIO and F-actin binding protein isoform 6							59.0	69.0	66.0					22																	38121726		1885	4094	5979	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121726G>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3163G>T	22.37:g.38121726G>T	ENSP00000384312:p.Glu1055*					TRIOBP_uc003atu.2_Nonsense_Mutation_p.E883*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.E1055*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.E883*	p.E1055*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3434	+	Melanoma(58;0.0574)		1055					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.3163G>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	37	6.289964	0.97444	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.85	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.22366	N	0.999161	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.2295	0.31590	0.1134:0.0:0.8866:0.0	.	.	.	.	X	1055	.	ENSP00000384312:E1055X	E	+	1	0	TRIOBP	36451672	0.839000	0.29477	0.011000	0.14972	0.090000	0.18270	2.668000	0.46816	1.210000	0.43336	0.449000	0.29647	GAG		0.662	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			20	92	1	0	1.55795e-14	0.001882	2.50181e-14	20	92				
APOBEC3B	9582	broad.mit.edu	37	22	39385550	39385550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:39385550G>T	ENST00000333467.3	+	5	703	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.V220L|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.V220L	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	220					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V220L(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GTGCTATGAGGTGGAGCGCCT	0.547																																							uc003awo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)GTG>TTG		apolipoprotein B mRNA editing enzyme, catalytic							85.0	72.0	76.0					22																	39385550		2198	4280	6478	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39385550G>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.658G>T	22.37:g.39385550G>T	ENSP00000327459:p.Val220Leu					APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.V220L|APOBEC3B_uc003awq.1_Intron|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	p.V220L	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN			5	712	+	Melanoma(58;0.04)		220					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.658G>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.774415	0.31411	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.79749	-1.3;-1.3;-1.3	1.92	0.886	0.19194	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.79458	0.4449	L	0.58302	1.8	0.09310	N	1	P;P	0.51147	0.942;0.813	P;P	0.53689	0.684;0.732	T	0.65573	-0.6135	9	0.25751	T	0.34	.	4.3303	0.11060	0.206:0.0:0.794:0.0	.	220;220	B0QYD2;Q9UH17	.;ABC3B_HUMAN	L	220	ENSP00000385068:V220L;ENSP00000385060:V220L;ENSP00000327459:V220L	ENSP00000327459:V220L	V	+	1	0	APOBEC3B	37715496	0.287000	0.24315	0.185000	0.23176	0.014000	0.08584	0.462000	0.21956	0.371000	0.24564	0.449000	0.29647	GTG		0.547	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		10	68	1	0	0.000442599	0.006214	0.000499343	10	68				
TAB1	10454	broad.mit.edu	37	22	39822857	39822857	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:39822857C>A	ENST00000216160.6	+	9	1133	c.1071C>A	c.(1069-1071)gaC>gaA	p.D357E	TAB1_ENST00000331454.3_Missense_Mutation_p.D357E	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	357	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)	p.D357E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGCACGAGGACATGACCCTGC	0.662																																							uc003axt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1069-1071)GAC>GAA		mitogen-activated protein kinase kinase kinase 7							87.0	78.0	81.0					22																	39822857		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39822857C>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1071C>A	22.37:g.39822857C>A	ENSP00000216160:p.Asp357Glu					TAB1_uc003axr.2_Missense_Mutation_p.D433E|TAB1_uc011aok.1_Missense_Mutation_p.D191E|TAB1_uc003axu.1_Missense_Mutation_p.D357E	p.D357E	NM_006116	NP_006107	Q15750	TAB1_HUMAN			9	1120	+			357			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.1071C>A	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515465	0.85389	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.13538	2.58;2.58	5.28	5.28	0.74379	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	M	0.61703	1.905	0.80722	D	1	P;D;D	0.61697	0.947;0.975;0.99	P;D;D	0.70227	0.721;0.953;0.968	T	0.01078	-1.1459	10	0.51188	T	0.08	.	12.291	0.54819	0.0:0.9223:0.0:0.0777	.	357;357;501	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	E	357	ENSP00000216160:D357E;ENSP00000333049:D357E	ENSP00000216160:D357E	D	+	3	2	TAB1	38152803	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.740000	0.47418	2.473000	0.83533	0.467000	0.42956	GAC		0.662	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		13	118	1	0	1.05317e-09	0.00245	1.50035e-09	13	118				
GRAP2	9402	broad.mit.edu	37	22	40367056	40367056	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:40367056C>G	ENST00000344138.4	+	8	1224	c.961C>G	c.(961-963)Cct>Gct	p.P321A	GRAP2_ENST00000544756.1_Missense_Mutation_p.P249A|GRAP2_ENST00000540310.1_Missense_Mutation_p.P255A|GRAP2_ENST00000399090.2_Missense_Mutation_p.P208A|GRAP2_ENST00000407075.3_Missense_Mutation_p.P321A|GRAP2_ENST00000543252.1_Missense_Mutation_p.P269A	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	321	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.P321A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGGCCTCTTCCCTGCCAACTA	0.587																																							uc003ayh.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(961-963)CCT>GCT		GRB2-related adaptor protein 2							80.0	70.0	73.0					22																	40367056		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40367056C>G	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.961C>G	22.37:g.40367056C>G	ENSP00000339186:p.Pro321Ala					GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.P295A|GRAP2_uc011aon.1_Missense_Mutation_p.P255A|GRAP2_uc010gya.1_Missense_Mutation_p.P321A|GRAP2_uc011aoo.1_Missense_Mutation_p.P249A|GRAP2_uc011aop.1_Missense_Mutation_p.P281A|GRAP2_uc011aoq.1_Missense_Mutation_p.P208A|GRAP2_uc003ayj.1_Missense_Mutation_p.P321A	p.P321A	NM_004810	NP_004801	O75791	GRAP2_HUMAN			8	1224	+			321			SH3 2.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.961C>G	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545921	0.86022	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	D;D;D;D;D;D	0.90504	-2.68;-1.84;-2.68;-2.68;-2.68;-2.68	5.45	4.42	0.53409	Src homology-3 domain (5);	0.049071	0.85682	D	0.000000	D	0.96574	0.8882	H	0.94503	3.545	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.97615	1.0132	10	0.87932	D	0	-11.758	15.4454	0.75225	0.1402:0.8598:0.0:0.0	.	208;321;255;295;321	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	A	321;269;295;255;249;208;321	ENSP00000339186:P321A;ENSP00000446350:P269A;ENSP00000444734:P255A;ENSP00000442195:P249A;ENSP00000382040:P208A;ENSP00000385607:P321A	ENSP00000339186:P321A	P	+	1	0	GRAP2	38697002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	1.251000	0.43983	0.557000	0.71058	CCT		0.587	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		14	93	0	0	0	0.004007	0	14	93				
FAM83F	113828	broad.mit.edu	37	22	40417379	40417379	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:40417379C>T	ENST00000333407.6	+	4	959	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	FAM83F_ENST00000473717.1_Missense_Mutation_p.R121W	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	289								p.R289W(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CACGGAGTTCCGGGAGCTGTA	0.602																																							uc003ayk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(865-867)CGG>TGG		hypothetical protein LOC113828							124.0	130.0	128.0					22																	40417379		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417379C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.865C>T	22.37:g.40417379C>T	ENSP00000330432:p.Arg289Trp						p.R289W	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			4	959	+			289					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.865C>T	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049049	0.75846	.	.	ENSG00000133477	ENST00000333407	T	0.16897	2.31	4.94	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.89601	3.045	0.47276	D	0.999372	D	0.89917	1.0	D	0.91635	0.999	T	0.61884	-0.6971	10	0.87932	D	0	-26.0531	14.5383	0.67976	0.1476:0.8524:0.0:0.0	.	289	Q8NEG4	FA83F_HUMAN	W	289	ENSP00000330432:R289W	ENSP00000330432:R289W	R	+	1	2	FAM83F	38747325	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.085000	0.50151	1.260000	0.44134	0.561000	0.74099	CGG		0.602	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		16	216	0	0	0	0.006122	0	16	216				
MKL1	57591	broad.mit.edu	37	22	40814545	40814545	+	Missense_Mutation	SNP	C	C	G	rs186548971	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:40814545C>G	ENST00000355630.3	-	12	2487	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	MKL1_ENST00000402042.1_Missense_Mutation_p.E583Q|MKL1_ENST00000396617.3_Missense_Mutation_p.E633Q|MKL1_ENST00000407029.1_Missense_Mutation_p.E633Q	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	633	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E633Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGACCGGCTCGGGCTCAGGC	0.697			T	RBM15	acute megakaryocytic leukemia																																		uc003ayv.1		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1897-1899)GAG>CAG		megakaryoblastic leukemia 1 protein							26.0	32.0	30.0					22																	40814545		2196	4292	6488	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814545C>G	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1897G>C	22.37:g.40814545C>G	ENSP00000347847:p.Glu633Gln					MKL1_uc003ayw.1_Missense_Mutation_p.E633Q|MKL1_uc010gye.1_Missense_Mutation_p.E633Q|MKL1_uc010gyf.1_Missense_Mutation_p.E583Q	p.E633Q	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			9	2104	-			633			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1897G>C	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	4.250	0.045338	0.08196	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.41400	1.03;1.0;1.03;1.03	4.8	2.71	0.32032	.	1.656400	0.02710	N	0.112788	T	0.25158	0.0611	N	0.11560	0.145	0.09310	N	1	P;P;P	0.41265	0.543;0.744;0.589	B;B;B	0.37550	0.162;0.253;0.171	T	0.23547	-1.0185	10	0.14252	T	0.57	-7.6156	8.4072	0.32622	0.0:0.7608:0.0:0.2392	.	583;633;633	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	Q	633;633;583;633	ENSP00000347847:E633Q;ENSP00000379861:E633Q;ENSP00000385584:E583Q;ENSP00000385835:E633Q	ENSP00000347847:E633Q	E	-	1	0	MKL1	39144491	0.000000	0.05858	0.035000	0.18076	0.231000	0.25187	-0.019000	0.12546	0.623000	0.30267	0.563000	0.77884	GAG		0.697	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		4	49	0	0	0	0.009096	0	4	49				
RANGAP1	5905	broad.mit.edu	37	22	41645438	41645438	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:41645438C>A	ENST00000455915.2	-	14	3059	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	RANGAP1_ENST00000356244.3_Missense_Mutation_p.K530N|RANGAP1_ENST00000407260.4_Missense_Mutation_p.K475N|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K530N			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	530					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.K530N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCAATGGCCTTGACCTTGT	0.597																																							uc003azs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1588-1590)AAG>AAT		Ran GTPase activating protein 1							75.0	69.0	71.0					22																	41645438		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41645438C>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1590G>T	22.37:g.41645438C>A	ENSP00000401470:p.Lys530Asn					RANGAP1_uc003azt.2_Missense_Mutation_p.K530N|RANGAP1_uc003azu.2_Missense_Mutation_p.K530N|RANGAP1_uc003azr.2_Missense_Mutation_p.K43N|RANGAP1_uc010gyk.2_Missense_Mutation_p.K33N|RANGAP1_uc011aoz.1_Missense_Mutation_p.K475N	p.K530N	NM_002883	NP_002874	P46060	RAGP1_HUMAN			14	3060	-			530					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1590G>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299514	0.81136	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.58060	0.36;0.36;0.36;0.79	5.4	5.4	0.78164	Ran-GTPase activating protein 1, C-terminal (3);	0.046492	0.85682	D	0.000000	T	0.65913	0.2737	L	0.58969	1.84	0.54753	D	0.999982	D;D	0.89917	0.999;1.0	D;D	0.77557	0.965;0.99	T	0.68262	-0.5455	10	0.87932	D	0	-33.7749	9.5133	0.39091	0.0:0.8375:0.0:0.1625	.	475;530	F8W7I9;P46060	.;RAGP1_HUMAN	N	530;530;530;530;475	ENSP00000385866:K530N;ENSP00000348577:K530N;ENSP00000401470:K530N;ENSP00000385354:K475N	ENSP00000348577:K530N	K	-	3	2	RANGAP1	39975384	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.730000	0.47335	2.515000	0.84797	0.467000	0.42956	AAG		0.597	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		8	41	1	0	0.000157383	0.00308	0.000180738	8	41				
ZC3H7B	23264	broad.mit.edu	37	22	41745200	41745200	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:41745200G>T	ENST00000352645.4	+	16	2100	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D615Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	631					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D615Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTCCAGTTCGACGTGTGCCG	0.647																																							uc003azw.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1843-1845)GAC>TAC		zinc finger CCCH-type containing 7B							113.0	73.0	87.0					22																	41745200		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41745200G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1843G>T	22.37:g.41745200G>T	ENSP00000345793:p.Asp615Tyr					ZC3H7B_uc010gyl.1_Intron	p.D615Y	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			16	2059	+			631					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1843G>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061580	0.93846	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.14022	2.54;2.54	5.2	5.2	0.72013	.	0.091217	0.64402	D	0.000001	T	0.39655	0.1086	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24476	-1.0159	10	0.87932	D	0	-34.8835	18.7452	0.91789	0.0:0.0:1.0:0.0	.	615	Q9UGR2-2	.	Y	615	ENSP00000345793:D615Y;ENSP00000263243:D615Y	ENSP00000263243:D615Y	D	+	1	0	ZC3H7B	40075146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	2.435000	0.82474	0.514000	0.50259	GAC		0.647	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		14	98	1	0	3.32936e-07	0.006122	4.27981e-07	14	98				
SULT4A1	25830	broad.mit.edu	37	22	44237718	44237718	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:44237718G>T	ENST00000330884.4	-	2	384	c.264C>A	c.(262-264)gtC>gtA	p.V88V	SULT4A1_ENST00000249130.5_Silent_p.V88V|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.V88V(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GGTACTCCAGGACCGGGAGCT	0.602																																							uc003bee.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)GTC>GTA		sulfotransferase family 4A, member 1							61.0	63.0	62.0					22																	44237718		2203	4300	6503	SO:0001819	synonymous_variant	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44237718G>T	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.264C>A	22.37:g.44237718G>T						SULT4A1_uc003bed.1_Silent_p.V9V|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Intron	p.V88V	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	2	380	-		Ovarian(80;0.024)|all_neural(38;0.0416)	88					B2R7N3|O43728	Silent	SNP	ENST00000330884.4	37	c.264C>A	CCDS14051.1																																																																																				0.602	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		20	81	1	0	1.40151e-16	0.010504	2.33332e-16	20	81				
SULT4A1	25830	broad.mit.edu	37	22	44237804	44237804	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:44237804A>T	ENST00000330884.4	-	2	298	c.178T>A	c.(178-180)Ttg>Atg	p.L60M	SULT4A1_ENST00000249130.5_Missense_Mutation_p.L60M|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	60					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.L60M(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TCCTGCAGCAAGCTGGTGCCT	0.667																																							uc003bee.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(178-180)TTG>ATG		sulfotransferase family 4A, member 1							36.0	35.0	35.0					22																	44237804		2203	4300	6503	SO:0001583	missense	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44237804A>T	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.178T>A	22.37:g.44237804A>T	ENSP00000332565:p.Leu60Met					SULT4A1_uc003bed.1_Translation_Start_Site|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Intron	p.L60M	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	2	294	-		Ovarian(80;0.024)|all_neural(38;0.0416)	60					B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	c.178T>A	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365939	0.41902	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	T;T	0.02050	4.48;4.48	4.4	-2.44	0.06502	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	T	0.04452	0.0122	L	0.31752	0.955	0.58432	D	0.999993	D	0.63880	0.993	D	0.64776	0.929	T	0.03957	-1.0989	10	0.72032	D	0.01	.	9.9724	0.41763	0.5912:0.0:0.4088:0.0	.	60	Q9BR01	ST4A1_HUMAN	M	60	ENSP00000332565:L60M;ENSP00000249130:L60M	ENSP00000249130:L60M	L	-	1	2	SULT4A1	42569137	0.999000	0.42202	0.920000	0.36463	0.959000	0.62525	0.656000	0.24948	-1.038000	0.03279	-0.417000	0.06048	TTG		0.667	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		8	42	0	0	0	0.004482	0	8	42				
FBLN1	2192	broad.mit.edu	37	22	45996263	45996263	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:45996263G>T	ENST00000327858.6	+	17	2144	c.2049G>T	c.(2047-2049)ggG>ggT	p.G683G	FBLN1_ENST00000348697.2_Silent_p.G683G	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	683					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.G683G(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGTGGTCGGGGGCGTGGTCT	0.612																																							uc003bgj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2047-2049)GGG>GGT		fibulin 1 isoform D							236.0	214.0	222.0					22																	45996263		2203	4300	6503	SO:0001819	synonymous_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45996263G>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.2049G>T	22.37:g.45996263G>T						FBLN1_uc003bgk.1_RNA	p.G683G	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	17	2196	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	683					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	c.2049G>T	CCDS14067.1																																																																																				0.612	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		15	323	1	0	6.31663e-08	0.003163	8.3931e-08	15	323				
PKDREJ	10343	broad.mit.edu	37	22	46655703	46655703	+	Missense_Mutation	SNP	G	G	C	rs546765847		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:46655703G>C	ENST00000253255.5	-	1	3516	c.3517C>G	c.(3517-3519)Cgg>Ggg	p.R1173G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1173					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R1173G(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGTTTAACCGTAGATCCACA	0.493																																							uc003bhh.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(3517-3519)CGG>GGG		receptor for egg jelly-like protein precursor							159.0	154.0	155.0					22																	46655703		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655703G>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3517C>G	22.37:g.46655703G>C	ENSP00000253255:p.Arg1173Gly						p.R1173G	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3517	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1173			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3517C>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	8.779	0.927751	0.18056	.	.	ENSG00000130943	ENST00000253255	T	0.35973	1.28	5.23	0.0923	0.14472	.	1.154120	0.06391	N	0.717003	T	0.31796	0.0808	L	0.52759	1.655	0.09310	N	1	B	0.20052	0.041	B	0.13407	0.009	T	0.30592	-0.9973	10	0.30078	T	0.28	-3.3553	8.8111	0.34967	0.0:0.3078:0.2377:0.4545	.	1173	Q9NTG1	PKDRE_HUMAN	G	1173	ENSP00000253255:R1173G	ENSP00000253255:R1173G	R	-	1	2	PKDREJ	45034367	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.594000	0.24014	0.239000	0.21243	-0.310000	0.09108	CGG		0.493	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		55	180	0	0	0	0.00361	0	55	180				
FAM19A5	25817	broad.mit.edu	37	22	49103622	49103622	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:49103622G>T	ENST00000402357.1	+	3	489	c.356G>T	c.(355-357)tGc>tTc	p.C119F	FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000358295.5_Missense_Mutation_p.C112F|FAM19A5_ENST00000406880.1_Missense_Mutation_p.C40F	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	119						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.C112F(1)|p.C119F(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGCTGGACGTGCACGCAGCCC	0.612																																							uc003bim.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(355-357)TGC>TTC		family with sequence similarity 19 (chemokine							101.0	112.0	109.0					22																	49103622		2126	4240	6366	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49103622G>T	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.356G>T	22.37:g.49103622G>T	ENSP00000383933:p.Cys119Phe					FAM19A5_uc003bio.3_Missense_Mutation_p.C112F	p.C119F	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	3	473	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	119					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.356G>T	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781116	0.70222	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295;ENST00000406880	.	.	.	4.45	3.43	0.39272	.	.	.	.	.	T	0.75997	0.3926	M	0.74881	2.28	0.46317	D	0.998989	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.77461	-0.2579	8	0.87932	D	0	.	10.2956	0.43623	0.0994:0.0:0.9006:0.0	.	112;119	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	F	119;119;112;40	.	ENSP00000336812:C119F	C	+	2	0	FAM19A5	47489628	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.369000	0.90118	0.993000	0.38866	0.558000	0.71614	TGC		0.612	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		30	137	1	0	2.81731e-10	0.002096	4.10082e-10	30	137				
PLXNB2	23654	broad.mit.edu	37	22	50719226	50719226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:50719226G>A	ENST00000449103.1	-	24	4080	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.Q1314*|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1314					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.Q1357*(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAGGGCCTGCTCCACCACC	0.657																																							uc003bkv.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3940-3942)CAG>TAG		plexin B2 precursor							36.0	42.0	40.0					22																	50719226		1991	4148	6139	SO:0001587	stop_gained	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719226G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3940C>T	22.37:g.50719226G>A	ENSP00000409171:p.Gln1314*					PLXNB2_uc003bkt.1_Nonsense_Mutation_p.Q106*|PLXNB2_uc003bku.1_Nonsense_Mutation_p.Q299*	p.Q1314*	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	24	4046	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1314			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Nonsense_Mutation	SNP	ENST00000449103.1	37	c.3940C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	42	9.664316	0.99233	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	.	.	.	4.17	4.17	0.49024	.	0.125713	0.36555	N	0.002530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	12.5326	0.56124	0.0:0.168:0.8319:0.0	.	.	.	.	X	1314	.	ENSP00000352288:Q1314X	Q	-	1	0	PLXNB2	49061353	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.004000	0.70709	2.158000	0.67659	0.561000	0.74099	CAG		0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		5	31	0	0	0	0.001168	0	5	31				
CHL1	10752	broad.mit.edu	37	3	369946	369946	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:369946G>T	ENST00000256509.2	+	5	936	c.294G>T	c.(292-294)ggG>ggT	p.G98G	CHL1_ENST00000397491.2_Silent_p.G98G	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.G98G(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAACGAGGGGCACATATCTC	0.393																																							uc003bou.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(292-294)GGG>GGT		cell adhesion molecule with homology to L1CAM							132.0	130.0	130.0					3																	369946		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:369946G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.294G>T	3.37:g.369946G>T						CHL1_uc003bot.2_Silent_p.G98G|CHL1_uc003bow.1_Silent_p.G98G|CHL1_uc011asi.1_Silent_p.G98G	p.G98G	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	5	565	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	98			Ig-like C2-type 1.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.294G>T	CCDS2556.1																																																																																				0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		10	116	1	0	1.58986e-06	0.008291	2.00195e-06	10	116				
BHLHE40	8553	broad.mit.edu	37	3	5025075	5025075	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:5025075G>T	ENST00000256495.3	+	5	1540	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	313					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G313C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCCGTTCCTGGGCCCACACCC	0.572																																							uc003bqf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)GGC>TGC		basic helix-loop-helix family, member e40							154.0	120.0	131.0					3																	5025075		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025075G>T	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.937G>T	3.37:g.5025075G>T	ENSP00000256495:p.Gly313Cys					BHLHE40_uc011asw.1_Missense_Mutation_p.G173C	p.G313C	NM_003670	NP_003661	O14503	BHE40_HUMAN			5	1244	+			313					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.937G>T	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420058	0.42918	.	.	ENSG00000134107	ENST00000256495	T	0.78364	-1.17	5.51	4.64	0.57946	.	0.579475	0.18973	N	0.126088	D	0.84538	0.5494	M	0.67397	2.05	0.39076	D	0.960804	D	0.71674	0.998	D	0.63033	0.91	D	0.86236	0.1640	10	0.87932	D	0	.	11.3646	0.49664	0.0695:0.1264:0.8041:0.0	.	313	O14503	BHE40_HUMAN	C	313	ENSP00000256495:G313C	ENSP00000256495:G313C	G	+	1	0	BHLHE40	5000075	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	2.439000	0.44846	1.331000	0.45412	-0.140000	0.14226	GGC		0.572	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		9	65	1	0	7.48243e-07	0.006214	9.50738e-07	9	65				
GRM7	2917	broad.mit.edu	37	3	7621006	7621006	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:7621006A>G	ENST00000357716.4	+	8	2687	c.2413A>G	c.(2413-2415)Att>Gtt	p.I805V	GRM7_ENST00000486284.1_Missense_Mutation_p.I805V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.I805V|GRM7_ENST00000402647.2_Missense_Mutation_p.I805V|GRM7_ENST00000389336.4_Missense_Mutation_p.I805V	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	805					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.I805V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GCTTGCCTTCATTCCAATTTT	0.383																																							uc003bqm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(2413-2415)ATT>GTT		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						42.0	40.0	41.0					3																	7621006		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7621006A>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2413A>G	3.37:g.7621006A>G	ENSP00000350348:p.Ile805Val					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.I805V|GRM7_uc003bql.2_Missense_Mutation_p.I805V|GRM7_uc003bqn.1_Missense_Mutation_p.I388V|GRM7_uc010hch.1_Missense_Mutation_p.I316V	p.I805V	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2687	+			805			Helical; Name=6; (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2413A>G	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747604	0.30955	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86318	0.5904	N	0.05351	-0.065	0.53688	D	0.999978	P;P;P;P;B	0.47604	0.597;0.876;0.898;0.898;0.02	B;D;D;D;B	0.68192	0.401;0.927;0.956;0.956;0.028	T	0.81876	-0.0731	10	0.02654	T	1	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	805;805;560;805;805	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	V	805	ENSP00000350348:I805V;ENSP00000417536:I805V;ENSP00000373987:I805V;ENSP00000385664:I805V;ENSP00000384585:I805V	ENSP00000350348:I805V	I	+	1	0	GRM7	7596006	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATT		0.383	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	39	0	0	0	0.000602	0	4	39				
ARPC4	10093	broad.mit.edu	37	3	9839447	9839447	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:9839447G>A	ENST00000397261.3	+	2	672	c.108G>A	c.(106-108)ccG>ccA	p.P36P	ARPC4-TTLL3_ENST00000397256.1_Silent_p.P36P|ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000433034.1_Silent_p.P55P	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	36					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)	p.P36P(1)		breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					ACAACAAGCCGGAAGTGGAAG	0.582																																							uc003bsz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)CCG>CCA		actin related protein 2/3 complex subunit 4							60.0	61.0	60.0					3																	9839447		2017	4185	6202	SO:0001819	synonymous_variant	10093				actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding	g.chr3:9839447G>A	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.108G>A	3.37:g.9839447G>A						ARPC4_uc003bta.1_5'UTR|ARPC4_uc003btb.1_5'UTR|ARPC4_uc003btc.1_5'UTR|TTLL3_uc003btd.3_5'UTR	p.P36P	NM_005718	NP_005709	P59998	ARPC4_HUMAN			2	687	+	Medulloblastoma(99;0.227)		36					C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Silent	SNP	ENST00000397261.3	37	c.108G>A	CCDS43047.1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908253	0.17833	.	.	ENSG00000250151	ENST00000453882	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.41328	0.1154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49341	-0.8950	4	.	.	.	-9.6423	5.0554	0.14529	0.3771:0.3992:0.0798:0.144	.	.	.	.	R	36	.	.	G	+	1	0	ARPC4-TTLL3	9814447	0.000000	0.05858	0.046000	0.18839	0.978000	0.69477	-4.467000	0.00229	-2.690000	0.00404	-1.069000	0.02264	GGA		0.582	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959		5	39	0	0	0	0.000602	0	5	39				
TATDN2	9797	broad.mit.edu	37	3	10291003	10291003	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:10291003A>T	ENST00000287652.4	+	2	1170	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	TATDN2_ENST00000448281.2_Missense_Mutation_p.Q40L|RP11-438J1.1_ENST00000450534.1_5'Flank	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	40					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.Q40L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGGCCAGCTCAGAGGTCTGCG	0.662																																							uc003bvg.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(118-120)CAG>CTG		TatD DNase domain containing 2							43.0	52.0	49.0					3																	10291003		2203	4299	6502	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10291003A>T	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.119A>T	3.37:g.10291003A>T	ENSP00000287652:p.Gln40Leu					TATDN2_uc003bvf.2_Missense_Mutation_p.Q40L|TATDN2_uc011atr.1_Missense_Mutation_p.Q40L|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	p.Q40L	NM_014760	NP_055575	Q93075	TATD2_HUMAN			2	700	+			40					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.119A>T	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.325334	0.01309	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.23147	1.92;1.92	3.87	-7.73	0.01245	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36311	-0.9753	9	0.72032	D	0.01	0.0593	5.4809	0.16723	0.1215:0.4678:0.3074:0.1033	.	40	Q93075	TATD2_HUMAN	L	40	ENSP00000287652:Q40L;ENSP00000408736:Q40L	ENSP00000287652:Q40L	Q	+	2	0	TATDN2	10266003	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.173000	0.01265	-4.138000	0.00070	-1.252000	0.01501	CAG		0.662	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		19	80	0	0	0	0.010504	0	19	80				
TMEM40	55287	broad.mit.edu	37	3	12777078	12777078	+	Missense_Mutation	SNP	G	G	A	rs147042676		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:12777078G>A	ENST00000314124.7	-	11	1014	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	TMEM40_ENST00000435218.2_Missense_Mutation_p.L190F|TMEM40_ENST00000435575.1_Missense_Mutation_p.L144F|TMEM40_ENST00000431022.2_Missense_Mutation_p.L236F|TMEM40_ENST00000264728.8_Missense_Mutation_p.L220F|TMEM40_ENST00000476331.1_5'UTR	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	220						integral component of membrane (GO:0016021)		p.L220F(1)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTCTGGAAGAGGGGGATGAAG	0.463																																							uc003bxg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(658-660)CTC>TTC		transmembrane protein 40							109.0	106.0	107.0					3																	12777078		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12777078G>A	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.658C>T	3.37:g.12777078G>A	ENSP00000322837:p.Leu220Phe					TMEM40_uc003bxh.1_Missense_Mutation_p.L190F|TMEM40_uc003bxi.1_Missense_Mutation_p.L144F|TMEM40_uc011auv.1_Missense_Mutation_p.L236F	p.L220F	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN			11	785	-			220					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.658C>T	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526917	0.44969	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	5.61	4.74	0.60224	.	0.146210	0.32055	N	0.006654	T	0.42562	0.1208	L	0.34521	1.04	0.36827	D	0.886693	B;B;B;B	0.32203	0.36;0.028;0.069;0.36	B;B;B;B	0.34385	0.181;0.043;0.063;0.13	T	0.52087	-0.8622	9	0.56958	D	0.05	-29.6406	10.5132	0.44874	0.0888:0.0:0.9112:0.0	.	236;144;190;220	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	F	220;144;190;84;220;236	.	ENSP00000264728:L220F	L	-	1	0	TMEM40	12752078	0.999000	0.42202	0.997000	0.53966	0.872000	0.50106	2.546000	0.45778	1.360000	0.45960	0.655000	0.94253	CTC		0.463	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		10	82	0	0	0	0.000978	0	10	82				
FGD5	152273	broad.mit.edu	37	3	14861919	14861919	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:14861919G>T	ENST00000285046.5	+	1	1451	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	FGD5_ENST00000543601.1_Missense_Mutation_p.Q206H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	447					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Q206H(1)|p.Q447H(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGGAGGGCAGGCTGCATCGG	0.627																																							uc003bzc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1339-1341)CAG>CAT		FYVE, RhoGEF and PH domain containing 5							27.0	32.0	30.0					3																	14861919		2034	4169	6203	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861919G>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1341G>T	3.37:g.14861919G>T	ENSP00000285046:p.Gln447His					FGD5_uc011avk.1_Missense_Mutation_p.Q447H	p.Q447H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1451	+			447					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1341G>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053044	0.55218	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76186	-1.0;-0.84	5.01	-0.928	0.10448	.	0.814453	0.10785	N	0.634452	T	0.49355	0.1552	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.41822	-0.9487	10	0.72032	D	0.01	1.5321	2.9219	0.05772	0.2944:0.1136:0.4764:0.1157	.	206;447	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	H	447;206	ENSP00000285046:Q447H;ENSP00000445949:Q206H	ENSP00000285046:Q447H	Q	+	3	2	FGD5	14836923	0.835000	0.29415	0.035000	0.18076	0.195000	0.23768	0.830000	0.27462	0.409000	0.25649	0.591000	0.81541	CAG		0.627	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	23	1	0	1.99824e-07	0.00499	2.59686e-07	15	23				
BTD	686	broad.mit.edu	37	3	15686657	15686657	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:15686657A>G	ENST00000303498.5	+	4	1403	c.1294A>G	c.(1294-1296)Acc>Gcc	p.T432A	BTD_ENST00000449107.1_Missense_Mutation_p.T434A|BTD_ENST00000437172.1_Missense_Mutation_p.T434A|BTD_ENST00000383778.4_Missense_Mutation_p.T412A	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	432					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.T432A(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CGAGAGGCCCACCTTATCCAA	0.517																																							uc003cah.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)ACC>GCC		biotinidase precursor							112.0	110.0	111.0					3																	15686657		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686657A>G	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1294A>G	3.37:g.15686657A>G	ENSP00000306477:p.Thr432Ala					BTD_uc011avv.1_Missense_Mutation_p.T434A|BTD_uc011avw.1_Missense_Mutation_p.T434A|BTD_uc011avx.1_Missense_Mutation_p.T412A	p.T432A	NM_000060	NP_000051	P43251	BTD_HUMAN			4	1397	+			432					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.1294A>G	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	A	0.434	-0.902088	0.02453	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.58	-6.57	0.01842	.	1.308000	0.04762	N	0.426485	T	0.78691	0.4323	L	0.35723	1.085	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.63646	-0.6590	10	0.10377	T	0.69	-5.8395	13.6083	0.62061	0.2182:0.0:0.6801:0.1018	.	434;434;432	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	A	434;432;434;412	ENSP00000388212:T434A;ENSP00000306477:T432A;ENSP00000400995:T434A;ENSP00000373288:T412A	ENSP00000306477:T432A	T	+	1	0	BTD	15661661	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.982000	0.03762	-1.057000	0.03201	0.459000	0.35465	ACC		0.517	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		13	118	0	0	0	0.00245	0	13	118				
ZNF385D	79750	broad.mit.edu	37	3	21606120	21606120	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:21606120G>A	ENST00000281523.2	-	3	740	c.222C>T	c.(220-222)caC>caT	p.H74H	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	74						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.H74H(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTTCTTCGGTGGGGAAGAG	0.318																																							uc003cce.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(220-222)CAC>CAT		zinc finger protein 385D							151.0	149.0	149.0					3																	21606120		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606120G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.222C>T	3.37:g.21606120G>A						ZNF385D_uc010hfb.1_RNA	p.H74H	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			3	630	-			74						Silent	SNP	ENST00000281523.2	37	c.222C>T	CCDS2636.1																																																																																				0.318	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		22	69	0	0	0	0.00278	0	22	69				
OXSM	54995	broad.mit.edu	37	3	25832986	25832986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:25832986G>T	ENST00000280701.3	+	2	574	c.475G>T	c.(475-477)Gtt>Ttt	p.V159F	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Missense_Mutation_p.V159F	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	159					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.V159F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCCTCTTGAAGTTGTTTCTGA	0.428																																							uc003cdn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(475-477)GTT>TTT		3-oxoacyl-ACP synthase, mitochondrial isoform 1							99.0	102.0	101.0					3																	25832986		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832986G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.475G>T	3.37:g.25832986G>T	ENSP00000280701:p.Val159Phe					NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Intron|OXSM_uc010hfh.2_Missense_Mutation_p.V159F	p.V159F	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	582	+			159						Missense_Mutation	SNP	ENST00000280701.3	37	c.475G>T	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799794	0.50208	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	6.16	3.45	0.39498	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.227352	0.43747	D	0.000540	T	0.32194	0.0821	N	0.17082	0.46	0.42004	D	0.990907	P;B	0.39551	0.678;0.062	B;B	0.32533	0.147;0.083	T	0.07849	-1.0751	9	0.40728	T	0.16	-15.2712	11.6879	0.51497	0.1832:0.0:0.8168:0.0	.	159;159	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	F	159	.	ENSP00000280701:V159F	V	+	1	0	OXSM	25807990	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.751000	0.62169	0.491000	0.27793	0.650000	0.86243	GTT		0.428	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		9	120	1	0	7.48243e-07	0.006214	9.50738e-07	9	120				
ARPP21	10777	broad.mit.edu	37	3	35724358	35724358	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:35724358A>C	ENST00000187397.4	+	4	604	c.148A>C	c.(148-150)Aat>Cat	p.N50H	ARPP21_ENST00000438071.1_Missense_Mutation_p.N50H|ARPP21_ENST00000474696.1_Missense_Mutation_p.N50H|ARPP21_ENST00000396482.2_Missense_Mutation_p.N50H|ARPP21_ENST00000444190.1_Missense_Mutation_p.N50H|ARPP21_ENST00000436702.1_Missense_Mutation_p.N50H|ARPP21_ENST00000432682.1_Missense_Mutation_p.N50H|ARPP21_ENST00000396481.2_Missense_Mutation_p.N50H|ARPP21_ENST00000337271.5_Missense_Mutation_p.N50H|ARPP21_ENST00000427542.1_Missense_Mutation_p.N50H|ARPP21_ENST00000441454.1_Missense_Mutation_p.N50H|ARPP21_ENST00000458225.1_Missense_Mutation_p.N50H|ARPP21_ENST00000412048.1_Missense_Mutation_p.N50H|ARPP21_ENST00000417925.1_Missense_Mutation_p.N50H|ARPP21_ENST00000428373.1_Missense_Mutation_p.N50H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	50					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.N50H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGAGGCTCAGAATCAAGAAAG	0.338																																							uc003cgb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(148-150)AAT>CAT		cyclic AMP-regulated phosphoprotein, 21 kD							79.0	90.0	86.0					3																	35724358		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35724358A>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.148A>C	3.37:g.35724358A>C	ENSP00000187397:p.Asn50His					ARPP21_uc003cga.2_Missense_Mutation_p.N50H|ARPP21_uc011axy.1_Missense_Mutation_p.N50H|ARPP21_uc003cfz.2_RNA|ARPP21_uc003cgc.2_Missense_Mutation_p.N50H|ARPP21_uc003cgd.2_Missense_Mutation_p.N50H|ARPP21_uc011axx.1_RNA|ARPP21_uc003cge.2_Missense_Mutation_p.N50H	p.N50H	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			4	412	+			50			Potential.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.148A>C	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.063940	0.76187	.	.	ENSG00000172995	ENST00000450234;ENST00000428373;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000449196;ENST00000187397;ENST00000452563;ENST00000438577;ENST00000427542;ENST00000474696;ENST00000412048;ENST00000396482;ENST00000432682;ENST00000432450;ENST00000413378;ENST00000417925;ENST00000396481;ENST00000441454;ENST00000436702;ENST00000438071	T;T;T;T;T;T;T	0.50548	0.74;1.87;1.84;1.84;1.85;0.74;1.87	6.02	6.02	0.97574	.	0.171581	0.52532	D	0.000077	T	0.64204	0.2577	L	0.57536	1.79	0.37776	D	0.92685	D;D;D;D	0.89917	1.0;0.997;0.985;1.0	D;D;P;D	0.80764	0.988;0.994;0.836;0.988	T	0.69720	-0.5069	10	0.62326	D	0.03	-22.0372	12.9364	0.58316	1.0:0.0:0.0:0.0	.	50;50;50;50	Q9UBL0-3;A8K1F3;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	H	50	ENSP00000411644:N50H;ENSP00000414351:N50H;ENSP00000337792:N50H;ENSP00000405276:N50H;ENSP00000187397:N50H;ENSP00000390169:N50H;ENSP00000412326:N50H	ENSP00000187397:N50H	N	+	1	0	ARPP21	35699362	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.619000	0.54196	2.311000	0.77944	0.533000	0.62120	AAT		0.338	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		23	59	0	0	0	0.00333	0	23	59				
ARPP21	10777	broad.mit.edu	37	3	35778812	35778812	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:35778812C>A	ENST00000187397.4	+	16	2058	c.1602C>A	c.(1600-1602)gtC>gtA	p.V534V	ARPP21_ENST00000444190.1_Silent_p.V480V|ARPP21_ENST00000337271.5_Silent_p.V480V|ARPP21_ENST00000458225.1_Silent_p.V500V|ARPP21_ENST00000417925.1_Silent_p.V500V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	534	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.V534V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACAGCAGGTCCAGCCACCGC	0.647																																							uc003cgb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1600-1602)GTC>GTA		cyclic AMP-regulated phosphoprotein, 21 kD							25.0	28.0	27.0					3																	35778812		2198	4286	6484	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35778812C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1602C>A	3.37:g.35778812C>A						ARPP21_uc003cga.2_Silent_p.V480V|ARPP21_uc011axy.1_Silent_p.V500V|ARPP21_uc003cgf.2_Silent_p.V335V|ARPP21_uc003cgg.2_Silent_p.V22V	p.V534V	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			16	1866	+			534			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1602C>A	CCDS2661.1																																																																																				0.647	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		9	29	1	0	0.00829132	0.008291	0.00899833	9	29				
C3orf35	339883	broad.mit.edu	37	3	37458935	37458935	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:37458935G>T	ENST00000328376.5	+	5	1157	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C	C3orf35_ENST00000425564.2_Missense_Mutation_p.G60C|C3orf35_ENST00000426078.1_Missense_Mutation_p.G60C|C3orf35_ENST00000452017.2_Missense_Mutation_p.G60C|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Missense_Mutation_p.G60C	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	60						integral component of membrane (GO:0016021)		p.G60C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGGCCTGCAGGGCAGTGCTCA	0.463																																							uc003cha.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(178-180)GGC>TGC		AP20 region protein isoform B							115.0	112.0	113.0					3																	37458935		1903	4108	6011	SO:0001583	missense	339883					integral to membrane		g.chr3:37458935G>T	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.178G>T	3.37:g.37458935G>T	ENSP00000331625:p.Gly60Cys					C3orf35_uc003chb.2_Missense_Mutation_p.G60C	p.G60C	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN			5	842	+			60					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.178G>T	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475899	0.44044	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.59502	0.26	4.12	4.12	0.48240	.	.	.	.	.	T	0.57051	0.2027	N	0.08118	0	0.27130	N	0.961924	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.53143	-0.8480	9	0.66056	D	0.02	.	12.1613	0.54105	0.0:0.0:1.0:0.0	.	60;60	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	C	60	ENSP00000331625:G60C	ENSP00000331625:G60C	G	+	1	0	C3orf35	37433939	0.005000	0.15991	0.760000	0.31359	0.977000	0.68977	0.864000	0.27926	2.582000	0.87167	0.563000	0.77884	GGC		0.463	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		13	52	1	0	6.31663e-08	0.003163	8.3931e-08	13	52				
SCN10A	6336	broad.mit.edu	37	3	38768446	38768446	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38768446G>T	ENST00000449082.2	-	16	2737	c.2738C>A	c.(2737-2739)gCc>gAc	p.A913D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	913					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A913D(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCGTGCCAGGGCCACCTGCAG	0.582																																							uc003ciq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2737-2739)GCC>GAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						126.0	123.0	124.0					3																	38768446		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768446G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2738C>A	3.37:g.38768446G>T	ENSP00000390600:p.Ala913Asp						p.A913D	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	2738	-			913					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2738C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129142	0.94473	.	.	ENSG00000185313	ENST00000449082	D	0.94758	-3.51	5.03	5.03	0.67393	Sodium ion transport-associated (1);	1.433960	0.04422	N	0.367694	D	0.98147	0.9388	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92885	0.6326	10	0.87932	D	0	.	18.5592	0.91094	0.0:0.0:1.0:0.0	.	913	Q9Y5Y9	SCNAA_HUMAN	D	913	ENSP00000390600:A913D	ENSP00000390600:A913D	A	-	2	0	SCN10A	38743450	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.657000	0.98554	2.637000	0.89404	0.561000	0.74099	GCC		0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		31	99	1	0	1.22384e-17	0.002836	2.06883e-17	31	99				
SCN10A	6336	broad.mit.edu	37	3	38781150	38781150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38781150C>A	ENST00000449082.2	-	14	2135	c.2136G>T	c.(2134-2136)atG>atT	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	712					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M712I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTTTGAAGACCATTTCAGCAG	0.433																																							uc003ciq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2134-2136)ATG>ATT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						59.0	56.0	57.0					3																	38781150		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781150C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2136G>T	3.37:g.38781150C>A	ENSP00000390600:p.Met712Ile						p.M712I	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2136	-			712			Helical; Name=S2 of repeat II; (Potential).|II.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2136G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470257	0.84533	.	.	ENSG00000185313	ENST00000449082	D	0.97186	-4.28	4.19	3.31	0.37934	Ion transport (1);	0.043664	0.85682	N	0.000000	D	0.96207	0.8763	M	0.79123	2.44	0.43798	D	0.996347	P	0.41498	0.752	B	0.41691	0.364	D	0.95374	0.8467	10	0.87932	D	0	.	11.8844	0.52594	0.0:0.9142:0.0:0.0858	.	712	Q9Y5Y9	SCNAA_HUMAN	I	712	ENSP00000390600:M712I	ENSP00000390600:M712I	M	-	3	0	SCN10A	38756154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	0.975000	0.38392	0.655000	0.94253	ATG		0.433	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		9	31	1	0	1.76689e-08	0.006214	2.4016e-08	9	31				
SCN11A	11280	broad.mit.edu	37	3	38888221	38888221	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38888221G>C	ENST00000302328.3	-	26	5538	c.5340C>G	c.(5338-5340)agC>agG	p.S1780R	SCN11A_ENST00000456224.3_Missense_Mutation_p.S1742R|SCN11A_ENST00000450244.1_Missense_Mutation_p.S1780R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1780					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)	p.S1780R(1)		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)	CCACCCCAAAGCTAGACAAGT	0.547																																							uc011ays.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(5338-5340)AGC>AGG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						155.0	137.0	143.0					3																	38888221		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888221G>C	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.5340C>G	3.37:g.38888221G>C	ENSP00000307599:p.Ser1780Arg						p.S1780R	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5539	-			1780					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.5340C>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.169990	0.21621	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96300	-3.97;-3.97;-3.92	5.02	5.02	0.67125	.	0.787497	0.11613	N	0.546559	D	0.92358	0.7575	N	0.24115	0.695	0.09310	N	1	P	0.37015	0.578	B	0.33890	0.172	D	0.87578	0.2482	10	0.87932	D	0	.	13.7293	0.62779	0.0:0.0:1.0:0.0	.	1780	Q9UI33	SCNBA_HUMAN	R	1780;1780;1742	ENSP00000307599:S1780R;ENSP00000400945:S1780R;ENSP00000416757:S1742R	ENSP00000307599:S1780R	S	-	3	2	SCN11A	38863225	0.000000	0.05858	0.071000	0.20095	0.115000	0.19883	0.451000	0.21779	2.602000	0.87976	0.650000	0.86243	AGC		0.547	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		13	70	0	0	0	0.001368	0	13	70				
SCN11A	11280	broad.mit.edu	37	3	38888709	38888709	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38888709A>C	ENST00000302328.3	-	26	5050	c.4852T>G	c.(4852-4854)Ttg>Gtg	p.L1618V	SCN11A_ENST00000456224.3_Missense_Mutation_p.L1580V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L1618V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1618					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)	p.L1618V(1)		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)	TCTTCACCCAAAGGGTCCTCA	0.373																																							uc011ays.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4852-4854)TTG>GTG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						102.0	106.0	104.0					3																	38888709		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888709A>C	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.4852T>G	3.37:g.38888709A>C	ENSP00000307599:p.Leu1618Val						p.L1618V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5051	-			1618					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4852T>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101581	0.56183	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97209	-4.29;-4.29;-4.26	5.33	0.305	0.15801	.	0.000000	0.64402	D	0.000002	D	0.97470	0.9172	M	0.68728	2.09	0.34310	D	0.685365	D	0.63880	0.993	D	0.79108	0.992	D	0.97684	1.0174	10	0.87932	D	0	.	10.54	0.45026	0.5273:0.0:0.4727:0.0	.	1618	Q9UI33	SCNBA_HUMAN	V	1618;1618;1580	ENSP00000307599:L1618V;ENSP00000400945:L1618V;ENSP00000416757:L1580V	ENSP00000307599:L1618V	L	-	1	2	SCN11A	38863713	0.878000	0.30173	0.596000	0.28811	0.960000	0.62799	1.191000	0.32138	-0.188000	0.10499	0.366000	0.22137	TTG		0.373	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		25	108	0	0	0	0.007291	0	25	108				
SCN11A	11280	broad.mit.edu	37	3	38888711	38888711	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:38888711G>A	ENST00000302328.3	-	26	5048	c.4850C>T	c.(4849-4851)cCt>cTt	p.P1617L	SCN11A_ENST00000456224.3_Missense_Mutation_p.P1579L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1617L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1617					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)	p.P1617L(1)		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)	TTCACCCAAAGGGTCCTCACT	0.368																																							uc011ays.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4849-4851)CCT>CTT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						104.0	108.0	106.0					3																	38888711		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888711G>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.4850C>T	3.37:g.38888711G>A	ENSP00000307599:p.Pro1617Leu						p.P1617L	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5049	-			1617					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4850C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667784	0.88348	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96265	-3.96;-3.96;-3.92	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98667	1.0686	10	0.54805	T	0.06	.	18.7832	0.91942	0.0:0.0:1.0:0.0	.	1617	Q9UI33	SCNBA_HUMAN	L	1617;1617;1579	ENSP00000307599:P1617L;ENSP00000400945:P1617L;ENSP00000416757:P1579L	ENSP00000307599:P1617L	P	-	2	0	SCN11A	38863715	1.000000	0.71417	0.938000	0.37757	0.965000	0.64279	6.683000	0.74533	2.426000	0.82243	0.446000	0.29264	CCT		0.368	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		26	104	0	0	0	0.007291	0	26	104				
TTC21A	199223	broad.mit.edu	37	3	39170265	39170265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:39170265G>T	ENST00000431162.2	+	14	1893	c.1759G>T	c.(1759-1761)Gac>Tac	p.D587Y	TTC21A_ENST00000440121.1_Missense_Mutation_p.D539Y|TTC21A_ENST00000301819.6_Missense_Mutation_p.D588Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	587								p.D588Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAAGGCTGGAGACTATCCAGA	0.552																																							uc003cjc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1759-1761)GAC>TAC		tetratricopeptide repeat domain 21A isoform 2							131.0	132.0	132.0					3																	39170265		1949	4147	6096	SO:0001583	missense	199223						binding	g.chr3:39170265G>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1759G>T	3.37:g.39170265G>T	ENSP00000398211:p.Asp587Tyr					TTC21A_uc003cje.2_Missense_Mutation_p.D588Y|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.D539Y	p.D587Y	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	14	1936	+			587			TPR 8.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.1759G>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027555	0.54683	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.79653	-1.29;0.54;-1.29	4.83	3.96	0.45880	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000003	D	0.85978	0.5823	L	0.54323	1.7	0.52501	D	0.999953	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.72338	0.891;0.961;0.977	D	0.86659	0.1903	10	0.72032	D	0.01	-20.4217	12.2815	0.54767	0.085:0.0:0.915:0.0	.	539;588;587	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Y	588;570;587;539	ENSP00000301819:D588Y;ENSP00000398211:D587Y;ENSP00000410882:D539Y	ENSP00000301819:D588Y	D	+	1	0	TTC21A	39145269	1.000000	0.71417	0.947000	0.38551	0.358000	0.29455	5.245000	0.65405	1.165000	0.42670	-0.251000	0.11542	GAC		0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		45	118	1	0	2.56662e-36	0.003214	4.84386e-36	45	118				
XIRP1	165904	broad.mit.edu	37	3	39226647	39226648	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:39226647_39226648GG>TT	ENST00000340369.3	-	2	4517_4518	c.4289_4290CC>AA	c.(4288-4290)gCC>gAA	p.A1430E	XIRP1_ENST00000421646.1_Missense_Mutation_p.A113E|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1430					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.A1430E(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CATGGTTGAGGGCATTGAGCTT	0.644																																							uc003cjk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(4288-4290)GCC>GAA		xin actin-binding repeat containing 1																																				SO:0001583	missense	165904						actin binding	g.chr3:39226647_39226648GG>TT	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4289_4290delinsTT	3.37:g.39226647_39226648delinsTT	ENSP00000343140:p.Ala1430Glu					XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.A113E	p.A1430E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	4510_4511	-			1430					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	DNP	ENST00000340369.3	37	c.4289_4290CC>AA	CCDS2683.1																																																																																				0.644	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		7	100	0	0	0	0.004672	0	7	100				
CX3CR1	1524	broad.mit.edu	37	3	39308000	39308000	+	Start_Codon_SNP	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:39308000T>C	ENST00000541347.1	-	2	240	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CX3CR1_ENST00000358309.3_Missense_Mutation_p.M33V|CX3CR1_ENST00000399220.2_Start_Codon_SNP_p.M1V|CX3CR1_ENST00000542107.1_Start_Codon_SNP_p.M1V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	1					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.M33V(1)|p.M1V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AACTGATCCATGGTGAAGGCC	0.443																																							uc003cjl.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(1-3)ATG>GTG		chemokine (C-X3-C motif) receptor 1							52.0	51.0	51.0					3																	39308000		1902	4127	6029	SO:0001582	initiator_codon_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39308000T>C	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.1A>G	3.37:g.39308000T>C	ENSP00000439140:p.Met1Val						p.M1V	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	93	-			1			Extracellular (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.1A>G	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348218	0.24426	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290;ENST00000412814	T;T;T;T;T;T	0.63913	-0.03;-0.07;-0.03;-0.03;1.78;1.62	4.94	4.94	0.65067	.	3.704710	0.00797	N	0.001388	T	0.77445	0.4131	.	.	.	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.58713	-0.7588	9	0.27082	T	0.32	.	11.9706	0.53062	0.0:0.0:0.0:1.0	.	1	P49238	CX3C1_HUMAN	V	1;9;33;1;1;1;1	ENSP00000382166:M1V;ENSP00000351059:M33V;ENSP00000439140:M1V;ENSP00000444928:M1V;ENSP00000394960:M1V;ENSP00000408835:M1V	ENSP00000351059:M33V	M	-	1	0	CX3CR1	39283004	1.000000	0.71417	0.997000	0.53966	0.068000	0.16541	5.968000	0.70413	1.872000	0.54250	0.533000	0.62120	ATG		0.443	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	Missense_Mutation	14	35	0	0	0	0.00245	0	14	35				
ZNF662	389114	broad.mit.edu	37	3	42956151	42956151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:42956151G>T	ENST00000541208.1	+	5	955	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZNF662_ENST00000440367.2_Nonsense_Mutation_p.E196*|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.E222*|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	196					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.E222*(1)|p.E196*(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TATATGTGAGGAATGCGGCAA	0.373																																							uc003cmi.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(586-588)GAA>TAA		zinc finger protein 662 isoform 1							69.0	72.0	71.0					3																	42956151		2203	4300	6503	SO:0001587	stop_gained	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956151G>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.586G>T	3.37:g.42956151G>T	ENSP00000446208:p.Glu196*					ZNF662_uc003cmk.2_Nonsense_Mutation_p.E222*|ZNF662_uc003cmj.2_Nonsense_Mutation_p.E88*	p.E196*	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	938	+			196			C2H2-type 1.		A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Nonsense_Mutation	SNP	ENST00000541208.1	37	c.586G>T	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268084	0.59540	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	.	.	.	3.18	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.2105	0.54377	0.0:0.0:1.0:0.0	.	.	.	.	X	196;222;196	.	ENSP00000329264:E222X	E	+	1	0	ZNF662	42931155	0.015000	0.18098	0.989000	0.46669	0.357000	0.29423	1.029000	0.30140	1.801000	0.52704	0.555000	0.69702	GAA		0.373	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		22	46	1	0	6.33239e-15	0.010504	1.02759e-14	22	46				
PFKFB4	5210	broad.mit.edu	37	3	48563006	48563006	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48563006T>C	ENST00000232375.3	-	10	1196	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.K355E|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.K328E|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.K351E	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	362	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.K362E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCTCCCCTTTAGGGTACCGG	0.597																																							uc003ctv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1084-1086)AAA>GAA		6-phosphofructo-2-kinase/fructose-2,							68.0	54.0	59.0					3																	48563006		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48563006T>C	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1084A>G	3.37:g.48563006T>C	ENSP00000232375:p.Lys362Glu					PFKFB4_uc003ctw.2_Missense_Mutation_p.K171E|PFKFB4_uc010hkc.2_Intron|PFKFB4_uc003ctx.2_Missense_Mutation_p.K319E|PFKFB4_uc010hkb.2_Missense_Mutation_p.K355E|PFKFB4_uc011bbm.1_Missense_Mutation_p.K351E|PFKFB4_uc011bbn.1_RNA	p.K362E	NM_004567	NP_004558	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	10	1101	-			362			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1084A>G	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076548	0.55753	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	N	0.11651	0.15	0.80722	D	1	B;D;B	0.63046	0.026;0.992;0.01	B;D;B	0.73708	0.035;0.981;0.03	T	0.74131	-0.3764	10	0.87932	D	0	-23.6612	11.3632	0.49655	0.0:0.0:0.0:1.0	.	351;355;362	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	E	362;351;355;328	ENSP00000232375:K362E;ENSP00000438908:K351E;ENSP00000388394:K355E;ENSP00000437446:K328E	ENSP00000232375:K362E	K	-	1	0	PFKFB4	48538010	0.026000	0.19158	1.000000	0.80357	0.914000	0.54420	1.381000	0.34362	1.844000	0.53588	0.383000	0.25322	AAA		0.597	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		3	24	0	0	0	0.004672	0	3	24				
COL7A1	1294	broad.mit.edu	37	3	48605544	48605544	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48605544G>C	ENST00000328333.8	-	105	7961	c.7854C>G	c.(7852-7854)ttC>ttG	p.F2618L	COL7A1_ENST00000454817.1_Missense_Mutation_p.F2586L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2618	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F2618L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGACCCATGAAGCCAACAT	0.532																																							uc003ctz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(7852-7854)TTC>TTG		alpha 1 type VII collagen precursor							82.0	78.0	79.0					3																	48605544		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605544G>C	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7854C>G	3.37:g.48605544G>C	ENSP00000332371:p.Phe2618Leu						p.F2618L	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	105	7855	-			2618			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7854C>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	6.497	0.459871	0.12342	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93076	-3.16;-3.16	5.29	0.952	0.19584	.	0.000000	0.47852	D	0.000204	T	0.79305	0.4423	N	0.03253	-0.375	0.22880	N	0.99862	B	0.20459	0.045	B	0.18871	0.023	T	0.66360	-0.5943	10	0.11182	T	0.66	.	8.1127	0.30924	0.4381:0.0:0.5619:0.0	.	2618	Q02388	CO7A1_HUMAN	L	2618;2586	ENSP00000332371:F2618L;ENSP00000412569:F2586L	ENSP00000332371:F2618L	F	-	3	2	COL7A1	48580548	0.288000	0.24324	0.997000	0.53966	0.102000	0.19082	0.020000	0.13466	0.246000	0.21394	-0.244000	0.11960	TTC		0.532	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		10	97	0	0	0	0.006214	0	10	97				
CELSR3	1951	broad.mit.edu	37	3	48697224	48697225	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48697224_48697225CT>AA	ENST00000164024.4	-	1	3123_3124	c.2843_2844AG>TT	c.(2842-2844)gAG>gTT	p.E948V	CELSR3_ENST00000544264.1_Missense_Mutation_p.E948V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	948	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E948V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGACCATCACCTCCACATAAGT	0.53																																							uc003cul.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2842-2844)GAG>GTT		cadherin EGF LAG seven-pass G-type receptor 3																																				SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697224_48697225CT>AA	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2843_2844delinsAA	3.37:g.48697224_48697225delinsAA	ENSP00000164024:p.Glu948Val					CELSR3_uc003cuf.1_Missense_Mutation_p.E1018V	p.E948V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3124_3125	-			948			Extracellular (Potential).|Cadherin 6.		O75092	Missense_Mutation	DNP	ENST00000164024.4	37	c.2843_2844AG>TT	CCDS2775.1																																																																																				0.530	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		24	76	0	0	0	0.004672	0	24	76				
SLC25A20	788	broad.mit.edu	37	3	48929495	48929495	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:48929495T>G	ENST00000319017.4	-	2	314	c.116A>C	c.(115-117)cAg>cCg	p.Q39P	SLC25A20_ENST00000544097.1_5'UTR|SLC25A20_ENST00000430379.1_Missense_Mutation_p.Q39P	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	39					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.Q39P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TGGCTGTGTCTGCAGTCGGAC	0.502																																							uc003cva.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(115-117)CAG>CCG		carnitine/acylcarnitine translocase	L-Carnitine(DB00583)						104.0	99.0	101.0					3																	48929495		2203	4300	6503	SO:0001583	missense	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48929495T>G	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.116A>C	3.37:g.48929495T>G	ENSP00000326305:p.Gln39Pro					SLC25A20_uc011bbw.1_5'UTR|SLC25A20_uc010hkj.2_Missense_Mutation_p.Q39P	p.Q39P	NM_000387	NP_000378	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	291	-			39			Solcar 1.|Mitochondrial matrix (Potential).		B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	c.116A>C	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060208	0.76074	.	.	ENSG00000178537	ENST00000430379;ENST00000319017	D;D	0.86366	-2.11;-2.11	4.76	4.76	0.60689	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.988;0.999	D	0.97712	1.0191	10	0.87932	D	0	-19.7365	13.4021	0.60889	0.0:0.0:0.0:1.0	.	39;39	C9JPE1;O43772	.;MCAT_HUMAN	P	39	ENSP00000388986:Q39P;ENSP00000326305:Q39P	ENSP00000326305:Q39P	Q	-	2	0	SLC25A20	48904499	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.809000	0.75211	2.005000	0.58758	0.374000	0.22700	CAG		0.502	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		20	56	0	0	0	0.001882	0	20	56				
P4HTM	54681	broad.mit.edu	37	3	49044234	49044234	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:49044234C>A	ENST00000383729.4	+	9	1774	c.1403C>A	c.(1402-1404)gCg>gAg	p.A468E	P4HTM_ENST00000343546.4_Missense_Mutation_p.A529E|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	468						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.A529E(1)|p.A468E(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GCGCGGCAAGCGCTGTTCCAA	0.662																																							uc003cvg.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(1402-1404)GCG>GAG		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						44.0	45.0	45.0					3																	49044234		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49044234C>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1403C>A	3.37:g.49044234C>A	ENSP00000373235:p.Ala468Glu					P4HTM_uc003cvh.2_Missense_Mutation_p.A529E|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.A468E	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			9	1752	+			468			Lumenal (Potential).		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1403C>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822218	0.32237	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.77358	-1.09	5.51	4.52	0.55395	.	0.585786	0.18524	N	0.138694	T	0.58708	0.2141	N	0.12182	0.205	0.26900	N	0.967132	D;B	0.54397	0.966;0.3	P;B	0.48738	0.588;0.026	T	0.55192	-0.8179	10	0.09338	T	0.73	-25.2688	2.9886	0.05975	0.2679:0.5256:0.0:0.2065	.	529;468	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	E	468;529	ENSP00000373235:A468E	ENSP00000341422:A529E	A	+	2	0	P4HTM	49019238	0.892000	0.30473	0.996000	0.52242	0.966000	0.64601	1.614000	0.36911	2.589000	0.87451	0.655000	0.94253	GCG		0.662	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	43	1	0	2.7689e-08	0.001984	3.74372e-08	5	43				
DOCK3	1795	broad.mit.edu	37	3	51370646	51370646	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:51370646C>G	ENST00000266037.9	+	35	3596	c.3573C>G	c.(3571-3573)acC>acG	p.T1191T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1191					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.T1191T(1)|p.T1180T(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTTTGTGACCTCAGTCACCC	0.527																																							uc011bds.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(3571-3573)ACC>ACG		dedicator of cytokinesis 3							119.0	121.0	120.0					3																	51370646		1940	4135	6075	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51370646C>G	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3573C>G	3.37:g.51370646C>G							p.T1191T	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	35	3596	+			1191			DHR-2.		O15017	Silent	SNP	ENST00000266037.9	37	c.3573C>G	CCDS46835.1																																																																																				0.527	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		13	135	0	0	0	0.001855	0	13	135				
ERC2	26059	broad.mit.edu	37	3	56468700	56468700	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:56468700T>A	ENST00000288221.6	-	2	591	c.336A>T	c.(334-336)acA>acT	p.T112T		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	112						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.T112T(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AAAGGACATCTGTGTGGGAAA	0.522																																							uc003dhr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(334-336)ACA>ACT		cytomatrix protein p110							187.0	183.0	184.0					3																	56468700		2015	4165	6180	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468700T>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.336A>T	3.37:g.56468700T>A							p.T112T	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	592	-			112					Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.336A>T	CCDS46851.1																																																																																				0.522	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		19	170	0	0	0	0.006122	0	19	170				
FLNB	2317	broad.mit.edu	37	3	58124020	58124020	+	Missense_Mutation	SNP	G	G	A	rs200727113		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:58124020G>A	ENST00000295956.4	+	29	5038	c.4873G>A	c.(4873-4875)Gcc>Acc	p.A1625T	FLNB_ENST00000490882.1_Missense_Mutation_p.A1656T|FLNB_ENST00000429972.2_Missense_Mutation_p.A1625T|FLNB_ENST00000419752.2_Missense_Mutation_p.A1456T|FLNB_ENST00000493452.1_Missense_Mutation_p.A1456T|FLNB_ENST00000358537.3_Missense_Mutation_p.A1625T|FLNB_ENST00000357272.4_Missense_Mutation_p.A1625T|FLNB_ENST00000348383.5_Missense_Mutation_p.A1625T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1625					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A1625T(1)|p.A1656T(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCTGGAATCGCCTCCACTGT	0.522																																							uc003djj.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(4873-4875)GCC>ACC		filamin B isoform 2		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	86.0	86.0	86.0		4966,4873,4873,4873	6.2	1.0	3		86	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	58,58,58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1656/2634,1625/2592,1625/2579,1625/2603	58124020	2,13004	2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58124020G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4873G>A	3.37:g.58124020G>A	ENSP00000295956:p.Ala1625Thr					FLNB_uc010hne.2_Missense_Mutation_p.A1656T|FLNB_uc003djk.2_Missense_Mutation_p.A1625T|FLNB_uc010hnf.2_Missense_Mutation_p.A1625T|FLNB_uc003djl.2_Missense_Mutation_p.A1456T|FLNB_uc003djm.2_Missense_Mutation_p.A1456T	p.A1625T	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	29	5038	+			1625			Filamin 15.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4873G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871359	0.91587	0.0	2.33E-4	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	6.17	6.17	0.99709	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.198107	0.53938	D	0.000055	D	0.86201	0.5876	N	0.11673	0.155	0.54753	D	0.999987	P;P;D;B;P;P	0.55800	0.874;0.948;0.973;0.342;0.951;0.951	B;B;P;B;P;P	0.46320	0.285;0.22;0.512;0.06;0.512;0.512	D	0.85476	0.1176	10	0.27082	T	0.32	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	1625;1656;1456;1456;1625;1625	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	T	1625;1656;1625;1625;1625;1625;1456;1456	ENSP00000295956:A1625T;ENSP00000420213:A1656T;ENSP00000351339:A1625T;ENSP00000415599:A1625T;ENSP00000232447:A1625T;ENSP00000349819:A1625T;ENSP00000418510:A1456T;ENSP00000414532:A1456T	ENSP00000295956:A1625T	A	+	1	0	FLNB	58099060	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.513000	0.81739	2.941000	0.99782	0.655000	0.94253	GCC		0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		20	93	0	0	0	0.001882	0	20	93				
PTPRG	5793	broad.mit.edu	37	3	61975455	61975456	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:61975455_61975456GG>AT	ENST00000474889.1	+	3	724_725	c.347_348GG>AT	c.(346-348)tGG>tAT	p.W116Y	PTPRG_ENST00000295874.10_Missense_Mutation_p.W116Y	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	116	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W116Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AACAAAACCTGGATGAAAAACA	0.426																																							uc003dlb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(346-348)TGG>TAT		protein tyrosine phosphatase, receptor type, G																																				SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61975455_61975456GG>AT	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	Exception_encountered	3.37:g.61975455_61975456delinsAT	ENSP00000418112:p.Trp116Tyr					PTPRG_uc003dlc.2_Missense_Mutation_p.W116Y	p.W116Y	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	3	1066_1067	+			116			Extracellular (Potential).|Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	DNP	ENST00000474889.1	37	c.347_348GG>AT	CCDS2895.1																																																																																				0.426	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		6	48	0	0	0	0.004672	0	6	48				
CADPS	8618	broad.mit.edu	37	3	62478012	62478012	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:62478012T>A	ENST00000383710.4	-	20	3186	c.2837A>T	c.(2836-2838)gAc>gTc	p.D946V	CADPS_ENST00000283269.9_Missense_Mutation_p.D956V|CADPS_ENST00000357948.3_Missense_Mutation_p.D916V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	946	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.D946V(1)|p.D956V(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGAAAACTGTCCCATGTGTC	0.448																																							uc003dll.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(2836-2838)GAC>GTC		Ca2+-dependent secretion activator isoform 1							285.0	278.0	280.0					3																	62478012		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62478012T>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2837A>T	3.37:g.62478012T>A	ENSP00000373215:p.Asp946Val					CADPS_uc003dlk.1_Missense_Mutation_p.D443V|CADPS_uc003dlm.2_Missense_Mutation_p.D956V|CADPS_uc003dln.2_Missense_Mutation_p.D916V	p.D946V	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	20	3197	-		Lung SC(41;0.0452)	946			MHD1.|Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2837A>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878017	0.72294	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.31769	1.48;1.48;1.48	6.17	6.17	0.99709	Munc13 homology 1 (1);	0.045867	0.85682	D	0.000000	T	0.59059	0.2166	M	0.78049	2.395	0.80722	D	1	D;D;B;B	0.89917	0.997;1.0;0.006;0.154	D;D;B;B	0.85130	0.972;0.997;0.005;0.209	T	0.62746	-0.6789	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	916;956;946;946	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	V	946;946;916;956	ENSP00000373215:D946V;ENSP00000350632:D916V;ENSP00000283269:D956V	ENSP00000283269:D956V	D	-	2	0	CADPS	62453052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAC		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		102	257	0	0	0	0.00361	0	102	257				
CADPS	8618	broad.mit.edu	37	3	62478014	62478014	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:62478014C>A	ENST00000383710.4	-	20	3184	c.2835G>T	c.(2833-2835)tgG>tgT	p.W945C	CADPS_ENST00000283269.9_Missense_Mutation_p.W955C|CADPS_ENST00000357948.3_Missense_Mutation_p.W915C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	945	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.W945C(1)|p.W955C(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAAACTGTCCCATGTGTCTG	0.453																																							uc003dll.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(2833-2835)TGG>TGT		Ca2+-dependent secretion activator isoform 1							288.0	281.0	283.0					3																	62478014		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62478014C>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2835G>T	3.37:g.62478014C>A	ENSP00000373215:p.Trp945Cys					CADPS_uc003dlk.1_Missense_Mutation_p.W442C|CADPS_uc003dlm.2_Missense_Mutation_p.W955C|CADPS_uc003dln.2_Missense_Mutation_p.W915C	p.W945C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	20	3195	-		Lung SC(41;0.0452)	945			MHD1.|Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2835G>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.931989|3.931989	0.73442|0.73442	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.32753	.|1.44;1.44;1.44	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Munc13 homology 1 (1);	.|0.060701	.|0.64402	.|D	.|0.000001	.|T	.|0.62245	.|0.2412	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;0.999;0.947;0.999	.|D;D;P;D	.|0.97110	.|1.0;0.995;0.527;0.978	.|T	.|0.62685	.|-0.6802	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|915;955;945;945	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	X|C	248|945;945;915;955	.|ENSP00000373215:W945C;ENSP00000350632:W915C;ENSP00000283269:W955C	.|ENSP00000283269:W955C	G|W	-|-	1|3	0|0	CADPS|CADPS	62453054|62453054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.453	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		106	266	1	0	1.94071e-40	0.00361	3.6852e-40	106	266				
PDZRN3	23024	broad.mit.edu	37	3	73433421	73433421	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:73433421T>A	ENST00000263666.4	-	10	2410	c.2296A>T	c.(2296-2298)Agc>Tgc	p.S766C	PDZRN3_ENST00000466780.1_Missense_Mutation_p.S423C|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S483C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S488C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S423C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	766					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S766C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCGGGGTGCTGCGGCAGCTC	0.647																																							uc003dpl.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2296-2298)AGC>TGC		PDZ domain containing ring finger 3							29.0	31.0	31.0					3																	73433421		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433421T>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2296A>T	3.37:g.73433421T>A	ENSP00000263666:p.Ser766Cys					PDZRN3_uc011bgh.1_Missense_Mutation_p.S423C|PDZRN3_uc010hoe.1_Missense_Mutation_p.S464C|PDZRN3_uc011bgf.1_Missense_Mutation_p.S483C|PDZRN3_uc011bgg.1_Missense_Mutation_p.S486C	p.S766C	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2392	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	766					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2296A>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027010	0.75390	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.35789	1.29;2.02;1.99;1.99;2.05;1.71	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.997	T	0.72633	-0.4234	10	0.87932	D	0	.	14.5819	0.68298	0.0:0.0:0.0:1.0	.	488;483;483;766	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	766;488;423;423;483;464	ENSP00000263666:S766C;ENSP00000442026:S488C;ENSP00000418168:S423C;ENSP00000418484:S423C;ENSP00000418624:S483C;ENSP00000419250:S464C	ENSP00000263666:S766C	S	-	1	0	PDZRN3	73516111	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.662000	0.83803	1.921000	0.55644	0.533000	0.62120	AGC		0.647	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		6	40	0	0	0	0.001984	0	6	40				
HTR1F	3355	broad.mit.edu	37	3	88039965	88039965	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:88039965C>G	ENST00000319595.4	+	1	120	c.66C>G	c.(64-66)tcC>tcG	p.S22S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	22					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S22S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAATGCCATCCAAAATTCTGG	0.398																																							uc003dqr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(64-66)TCC>TCG		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						127.0	127.0	127.0					3																	88039965		2203	4300	6503	SO:0001819	synonymous_variant	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88039965C>G	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.66C>G	3.37:g.88039965C>G							p.S22S	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	224	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	22			Extracellular (By similarity).			Silent	SNP	ENST00000319595.4	37	c.66C>G	CCDS2920.1																																																																																				0.398	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		21	160	0	0	0	0.00333	0	21	160				
EPHA3	2042	broad.mit.edu	37	3	89259220	89259220	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:89259220C>A	ENST00000336596.2	+	3	589	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	EPHA3_ENST00000452448.2_Missense_Mutation_p.L122M|EPHA3_ENST00000494014.1_Missense_Mutation_p.L122M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	122	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L122M(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACATTCAACCTGTACTACAT	0.413										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(364-366)CTG>ATG		ephrin receptor EphA3 isoform a precursor							137.0	131.0	133.0					3																	89259220		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259220C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.364C>A	3.37:g.89259220C>A	ENSP00000337451:p.Leu122Met	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.L122M|EPHA3_uc010hon.1_RNA	p.L122M	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	589	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	122			Extracellular (Potential).		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.364C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470393	0.43942	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.20598	2.06;2.06;2.06	5.58	2.83	0.33086	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000003	T	0.36441	0.0967	L	0.52126	1.63	0.51233	D	0.999913	D;D	0.76494	0.999;0.984	D;D	0.83275	0.996;0.922	T	0.01440	-1.1354	9	.	.	.	.	10.7763	0.46353	0.0:0.8056:0.0:0.1944	.	122;122	P29320;P29320-2	EPHA3_HUMAN;.	M	122	ENSP00000337451:L122M;ENSP00000399926:L122M;ENSP00000419190:L122M	.	L	+	1	2	EPHA3	89341910	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.198000	0.42705	0.306000	0.22856	0.563000	0.77884	CTG		0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		13	127	1	0	4.36969e-10	0.001855	6.30677e-10	13	127				
EPHA3	2042	broad.mit.edu	37	3	89390124	89390124	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:89390124G>T	ENST00000336596.2	+	4	1098	c.873G>T	c.(871-873)ccG>ccT	p.P291P	EPHA3_ENST00000452448.2_Silent_p.P291P|EPHA3_ENST00000494014.1_Silent_p.P291P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	291	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P291P(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTAAGTGCCCGCCTCACAGTT	0.438										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	4	Substitution - coding silent(4)		large_intestine(2)|lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(871-873)CCG>CCT		ephrin receptor EphA3 isoform a precursor							164.0	158.0	160.0					3																	89390124		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390124G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.873G>T	3.37:g.89390124G>T		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Silent_p.P291P|EPHA3_uc010hon.1_RNA	p.P291P	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1098	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	291			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.873G>T	CCDS2922.1																																																																																				0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	145	1	0	6.40141e-05	0.000978	7.49101e-05	10	145				
PROS1	5627	broad.mit.edu	37	3	93605239	93605240	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:93605239_93605240CC>AT	ENST00000394236.3	-	11	1579_1580	c.1263_1264GG>AT	c.(1261-1266)ctGGaa>ctATaa	p.E422*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.E291*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	422	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.E422*(1)		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)	ACTTTGGTTTCCAGCAATCCAT	0.376																																							uc003drb.3		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1261-1266)CTGGAA>CTATAA		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)																																			SO:0001587	stop_gained	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.chr3:93605239_93605240CC>AT		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.1263_1264delinsAT	3.37:g.93605239_93605240delinsAT	ENSP00000377783:p.Glu422*					PROS1_uc010hoo.2_Nonsense_Mutation_p.E291*|PROS1_uc003dqz.3_Nonsense_Mutation_p.E291*	p.E422*	NM_000313	NP_000304	P07225	PROS_HUMAN			11	1604_1605	-			422			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	DNP	ENST00000394236.3	37	c.1263_1264GG>AT	CCDS2923.1																																																																																				0.376	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		38	199	0	0	0	0.004672	0	38	199				
ARL13B	200894	broad.mit.edu	37	3	93722539	93722539	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:93722539C>T	ENST00000394222.3	+	3	442	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.S56L|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000535334.1_5'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	56					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.S56L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GTTGGATTTTCAAAAATTAAC	0.338																																							uc003drc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(166-168)TCA>TTA		ADP-ribosylation factor-like 2-like 1 isoform 1							91.0	94.0	93.0					3																	93722539		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93722539C>T	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.167C>T	3.37:g.93722539C>T	ENSP00000377769:p.Ser56Leu					ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Missense_Mutation_p.S41L|ARL13B_uc003drf.2_Missense_Mutation_p.S56L|ARL13B_uc003drg.2_5'UTR	p.S56L	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			3	453	+			56					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.167C>T	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443620	0.83993	.	.	ENSG00000169379	ENST00000394222;ENST00000471138	T;T	0.63580	-0.05;-0.05	5.93	5.93	0.95920	Small GTP-binding protein domain (1);	0.058113	0.64402	D	0.000001	T	0.65354	0.2683	L	0.48174	1.505	0.80722	D	1	P;P	0.38395	0.629;0.629	B;B	0.43194	0.411;0.411	T	0.65096	-0.6251	10	0.56958	D	0.05	0.0849	20.3495	0.98807	0.0:1.0:0.0:0.0	.	56;56	B4DLH1;Q3SXY8	.;AR13B_HUMAN	L	56	ENSP00000377769:S56L;ENSP00000420780:S56L	ENSP00000377769:S56L	S	+	2	0	ARL13B	95205229	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.790000	0.85794	2.814000	0.96858	0.591000	0.81541	TCA		0.338	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		8	79	0	0	0	0.00308	0	8	79				
OR5K4	403278	broad.mit.edu	37	3	98073305	98073305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98073305C>A	ENST00000354924.2	+	1	608	c.608C>A	c.(607-609)tCa>tAa	p.S203*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S203*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TATATCTTTTCAATACCAATT	0.328																																							uc011bgv.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(607-609)TCA>TAA		olfactory receptor, family 5, subfamily K,							73.0	77.0	76.0					3																	98073305		2203	4300	6503	SO:0001587	stop_gained	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073305C>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.608C>A	3.37:g.98073305C>A	ENSP00000347003:p.Ser203*						p.S203*	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	608	+			203			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000354924.2	37	c.608C>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066659	0.55539	.	.	ENSG00000196098	ENST00000354924	.	.	.	4.97	4.08	0.47627	.	0.000000	0.27976	U	0.017081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-8.0482	12.0228	0.53352	0.0:0.6648:0.3352:0.0	.	.	.	.	X	203	.	ENSP00000347003:S203X	S	+	2	0	OR5K4	99555995	0.000000	0.05858	0.774000	0.31636	0.759000	0.43091	-0.287000	0.08388	1.424000	0.47217	0.603000	0.83216	TCA		0.328	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			18	76	1	0	2.35188e-11	0.006122	3.51982e-11	18	76				
OR5K1	26339	broad.mit.edu	37	3	98188929	98188929	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98188929G>C	ENST00000332650.5	+	1	606	c.509G>C	c.(508-510)gGa>gCa	p.G170A		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170A(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTTCTGTGGATCGAATCAC	0.398																																							uc003dsm.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(508-510)GGA>GCA		olfactory receptor, family 5, subfamily K,							245.0	248.0	247.0					3																	98188929		2202	4300	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188929G>C	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.509G>C	3.37:g.98188929G>C	ENSP00000373193:p.Gly170Ala						p.G170A	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	509	+			170			Extracellular (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.509G>C	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741450	0.15642	.	.	ENSG00000232382	ENST00000332650	T	0.38560	1.13	5.33	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.344076	0.21026	N	0.081439	T	0.33352	0.0860	L	0.33485	1.01	0.20975	N	0.999814	B	0.12630	0.006	B	0.24006	0.05	T	0.19451	-1.0305	10	0.30854	T	0.27	-2.0249	12.3077	0.54912	0.0:0.3617:0.6383:0.0	.	170	Q8NHB7	OR5K1_HUMAN	A	170	ENSP00000373193:G170A	ENSP00000373193:G170A	G	+	2	0	OR5K1	99671619	0.000000	0.05858	0.947000	0.38551	0.292000	0.27327	0.669000	0.25142	1.204000	0.43247	0.563000	0.77884	GGA		0.398	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			22	265	0	0	0	0.002299	0	22	265				
OR5K1	26339	broad.mit.edu	37	3	98189049	98189049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98189049C>A	ENST00000332650.5	+	1	726	c.629C>A	c.(628-630)aCc>aAc	p.T210N		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T210N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGTCTTTACCATAGGTAGT	0.348																																							uc003dsm.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(628-630)ACC>AAC		olfactory receptor, family 5, subfamily K,							158.0	161.0	160.0					3																	98189049		2203	4294	6497	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189049C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.629C>A	3.37:g.98189049C>A	ENSP00000373193:p.Thr210Asn						p.T210N	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	629	+			210			Helical; Name=5; (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.629C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579626	0.65992	.	.	ENSG00000232382	ENST00000332650	T	0.38077	1.16	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000458	T	0.50377	0.1612	L	0.60012	1.86	0.26548	N	0.973966	D	0.67145	0.996	D	0.65773	0.938	T	0.44559	-0.9320	10	0.72032	D	0.01	-15.0225	8.801	0.34909	0.0:0.8997:0.0:0.1003	.	210	Q8NHB7	OR5K1_HUMAN	N	210	ENSP00000373193:T210N	ENSP00000373193:T210N	T	+	2	0	OR5K1	99671739	0.000000	0.05858	0.948000	0.38648	0.987000	0.75469	1.049000	0.30392	2.448000	0.82819	0.563000	0.77884	ACC		0.348	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			41	137	1	0	1.67305e-13	0.00623	2.61308e-13	41	137				
OR5K2	402135	broad.mit.edu	37	3	98216531	98216531	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:98216531G>A	ENST00000427338.1	+	1	84	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E3K(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAATGGTTGAAGAAAATCA	0.373																																							uc011bgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(7-9)GAA>AAA		olfactory receptor, family 5, subfamily K,							84.0	83.0	83.0					3																	98216531		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216531G>A	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.7G>A	3.37:g.98216531G>A	ENSP00000393889:p.Glu3Lys						p.E3K	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	7	+			3			Extracellular (Potential).		B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.7G>A	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	G	1.566	-0.535416	0.04082	.	.	ENSG00000231861	ENST00000427338	T	0.02763	4.17	2.91	-1.19	0.09585	.	0.537726	0.15294	N	0.269996	T	0.01421	0.0046	N	0.13352	0.335	0.22873	N	0.998625	B	0.06786	0.001	B	0.08055	0.003	T	0.48091	-0.9065	10	0.13853	T	0.58	-5.3322	3.7496	0.08561	0.3282:0.0:0.4996:0.1722	.	3	Q8NHB8	OR5K2_HUMAN	K	3	ENSP00000393889:E3K	ENSP00000393889:E3K	E	+	1	0	OR5K2	99699221	0.000000	0.05858	0.068000	0.19968	0.116000	0.19942	-1.308000	0.02730	-0.298000	0.08921	0.298000	0.19748	GAA		0.373	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			10	91	0	0	0	0.006214	0	10	91				
CEP97	79598	broad.mit.edu	37	3	101443556	101443556	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:101443556C>T	ENST00000341893.3	+	1	788	c.36C>T	c.(34-36)ccC>ccT	p.P12P	CEP97_ENST00000494050.1_Silent_p.P12P|CEP97_ENST00000327230.4_Silent_p.P12P			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	12					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.P12P(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTTGCCTCCCGGAGAAGGTA	0.532																																							uc003dvk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(34-36)CCC>CCT		centrosomal protein 97kDa							47.0	51.0	50.0					3																	101443556		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101443556C>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.36C>T	3.37:g.101443556C>T						CEP97_uc010hpm.1_Silent_p.P12P|CEP97_uc011bhf.1_Silent_p.P12P|CEP97_uc003dvl.1_5'Flank	p.P12P	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			1	63	+			12					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.36C>T	CCDS2944.1																																																																																				0.532	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		9	42	0	0	0	0.001368	0	9	42				
CEP97	79598	broad.mit.edu	37	3	101447769	101447769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:101447769G>T	ENST00000341893.3	+	4	1187	c.435G>T	c.(433-435)ttG>ttT	p.L145F	CEP97_ENST00000327230.4_Missense_Mutation_p.L145F|CEP97_ENST00000494050.1_Missense_Mutation_p.L145F			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	145					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.L145F(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATCTAAATTGGTATCCCTGA	0.353																																							uc003dvk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(433-435)TTG>TTT		centrosomal protein 97kDa							147.0	144.0	145.0					3																	101447769		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101447769G>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.435G>T	3.37:g.101447769G>T	ENSP00000342510:p.Leu145Phe					CEP97_uc010hpm.1_Intron|CEP97_uc011bhf.1_Missense_Mutation_p.L145F|CEP97_uc003dvl.1_Intron	p.L145F	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			4	462	+			145			LRR 5.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.435G>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760292	0.49468	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.30448	1.53;1.53;1.55	5.5	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.85099	2.735	0.39034	D	0.960001	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.993	T	0.53005	-0.8499	10	0.87932	D	0	-7.1032	1.8421	0.03152	0.2455:0.1954:0.4313:0.1279	.	145;145	E9PG22;Q8IW35	.;CEP97_HUMAN	F	145	ENSP00000342510:L145F;ENSP00000325881:L145F;ENSP00000418185:L145F	ENSP00000325881:L145F	L	+	3	2	CEP97	102930459	0.010000	0.17322	0.771000	0.31576	0.805000	0.45488	0.007000	0.13174	0.752000	0.32923	0.655000	0.94253	TTG		0.353	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		9	55	1	0	0.000442599	0.006214	0.000499343	9	55				
NFKBIZ	64332	broad.mit.edu	37	3	101574011	101574011	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:101574011C>G	ENST00000326172.5	+	7	1664	c.1549C>G	c.(1549-1551)Ctg>Gtg	p.L517V	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.L395V|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.L417V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	517	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L517V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAGAACACCTCTGCATGTGTG	0.537																																							uc003dvp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1549-1551)CTG>GTG		nuclear factor of kappa light polypeptide gene							85.0	88.0	87.0					3																	101574011		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101574011C>G	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1549C>G	3.37:g.101574011C>G	ENSP00000325663:p.Leu517Val					NFKBIZ_uc003dvo.2_Missense_Mutation_p.L417V|NFKBIZ_uc010hpo.2_Missense_Mutation_p.L417V|NFKBIZ_uc003dvq.2_Missense_Mutation_p.L395V	p.L517V	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			7	1664	+			517			Interaction with NFKB1/p50 (By similarity).|ANK 3.		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1549C>G	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214988	0.58452	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.58	3.75	0.43078	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000005	D	0.88400	0.6426	M	0.84948	2.725	0.47819	D	0.999525	D;D	0.76494	0.996;0.999	P;D	0.70487	0.858;0.969	D	0.88754	0.3252	10	0.87932	D	0	-12.589	8.3683	0.32399	0.0:0.7124:0.1407:0.1469	.	395;517	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	V	417;417;395;517	ENSP00000419800:L417V;ENSP00000377618:L417V;ENSP00000325593:L395V;ENSP00000325663:L517V	ENSP00000325593:L395V	L	+	1	2	NFKBIZ	103056701	0.501000	0.26099	1.000000	0.80357	0.995000	0.86356	1.068000	0.30629	1.476000	0.48215	0.655000	0.94253	CTG		0.537	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		4	70	0	0	0	0.000602	0	4	70				
HHLA2	11148	broad.mit.edu	37	3	108095392	108095392	+	Silent	SNP	C	C	G	rs374982963		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:108095392C>G	ENST00000357759.5	+	9	1626	c.1212C>G	c.(1210-1212)ggC>ggG	p.G404G	HHLA2_ENST00000491820.1_Silent_p.G387G|HHLA2_ENST00000467761.1_Silent_p.G404G|HHLA2_ENST00000489514.2_Silent_p.G404G|HHLA2_ENST00000467562.1_Silent_p.G340G	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	404					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.G404G(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CCGATAATGGCGAAGAAAATG	0.363																																							uc003dwy.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1210-1212)GGC>GGG		HERV-H LTR-associating 2 precursor							74.0	75.0	75.0					3																	108095392		1878	4104	5982	SO:0001819	synonymous_variant	11148					integral to membrane		g.chr3:108095392C>G	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.1212C>G	3.37:g.108095392C>G						HHLA2_uc011bhl.1_Silent_p.G340G|HHLA2_uc010hpu.2_Silent_p.G387G|HHLA2_uc003dwz.2_Silent_p.G404G	p.G404G	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			9	1379	+			404					B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	c.1212C>G	CCDS46883.1	.	.	.	.	.	.	.	.	.	.	C	1.969	-0.436927	0.04636	.	.	ENSG00000114455	ENST00000482099	.	.	.	4.08	-8.17	0.01057	.	.	.	.	.	T	0.14527	0.0351	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	-17.8446	0.4654	0.00523	0.2926:0.305:0.176:0.2264	.	.	.	.	G	307	.	.	R	+	1	2	HHLA2	109578082	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.281000	0.08456	-1.481000	0.01863	-0.410000	0.06199	CGA		0.363	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		10	33	0	0	0	0.006214	0	10	33				
MYH15	22989	broad.mit.edu	37	3	108189605	108189605	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:108189605G>T	ENST00000273353.3	-	14	1439	c.1383C>A	c.(1381-1383)gcC>gcA	p.A461A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	461	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A461A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGACAGCTTGGCATCCAGGG	0.448																																							uc003dxa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(1381-1383)GCC>GCA		myosin, heavy polypeptide 15							97.0	90.0	92.0					3																	108189605		1983	4139	6122	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108189605G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1383C>A	3.37:g.108189605G>T							p.A461A	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			14	1440	-			461			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.1383C>A	CCDS43127.1																																																																																				0.448	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		10	43	1	0	4.68919e-08	0.008291	6.2631e-08	10	43				
CD96	10225	broad.mit.edu	37	3	111342670	111342670	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:111342670G>T	ENST00000283285.5	+	10	1428		c.e10+1		CD96_ENST00000352690.4_Splice_Site	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.?(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTCCTCAACGTGAGTTCAGC	0.383									Opitz Trigonocephaly syndrome																														uc003dxw.2		NA																	1	Unknown(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.e10+1		CD96 antigen isoform 1 precursor							81.0	72.0	75.0					3																	111342670		2203	4300	6503	SO:0001630	splice_region_variant	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111342670G>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1297+1G>T	3.37:g.111342670G>T						CD96_uc003dxx.2_Splice_Site_p.P417_splice|CD96_uc010hpy.1_Splice_Site_p.P417_splice	p.P433_splice	NM_198196	NP_937839	P40200	TACT_HUMAN			10	1467	+								Q5JPB3	Splice_Site	SNP	ENST00000283285.5	37	c.1297_splice	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987933	0.35036	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.882	0.52581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD96	112825360	0.985000	0.35326	0.958000	0.39756	0.005000	0.04900	3.421000	0.52742	2.519000	0.84933	0.655000	0.94253	.		0.383	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		Intron	8	46	1	0	0.000274275	0.004482	0.000311722	8	46				
CCDC80	151887	broad.mit.edu	37	3	112358703	112358703	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:112358703A>G	ENST00000206423.3	-	2	1003	c.50T>C	c.(49-51)cTa>cCa	p.L17P	CCDC80_ENST00000439685.2_Missense_Mutation_p.L17P|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	17					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.L17P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCACACACTAGCCACATGGC	0.552																																							uc003dzf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(49-51)CTA>CCA		steroid-sensitive protein 1 precursor							53.0	50.0	51.0					3																	112358703		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358703A>G	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.50T>C	3.37:g.112358703A>G	ENSP00000206423:p.Leu17Pro					CCDC80_uc011bhv.1_Missense_Mutation_p.L17P|CCDC80_uc003dzg.2_Missense_Mutation_p.L17P|CCDC80_uc003dzh.1_Missense_Mutation_p.L17P	p.L17P	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	268	-			17					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.50T>C	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119431	0.56505	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.55588	0.51;0.51	5.25	5.25	0.73442	.	0.219759	0.31404	N	0.007701	T	0.61350	0.2340	L	0.29908	0.895	0.43476	D	0.995691	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.70016	0.967;0.963;0.927	T	0.65709	-0.6102	10	0.87932	D	0	-19.037	15.324	0.74144	1.0:0.0:0.0:0.0	.	28;17;17	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	P	17	ENSP00000206423:L17P;ENSP00000411814:L17P	ENSP00000206423:L17P	L	-	2	0	CCDC80	113841393	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.570000	0.60872	2.205000	0.71048	0.528000	0.53228	CTA		0.552	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		8	57	0	0	0	0.006214	0	8	57				
CD200R1	131450	broad.mit.edu	37	3	112648058	112648058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:112648058C>A	ENST00000471858.1	-	3	662	c.430G>T	c.(430-432)Gga>Tga	p.G144*	CD200R1_ENST00000308611.3_Nonsense_Mutation_p.G167*|CD200R1_ENST00000490004.1_Nonsense_Mutation_p.G144*|CD200R1_ENST00000440122.2_Nonsense_Mutation_p.G167*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.G122*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	144	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.G167*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGGTGATATCCACGATGGAAA	0.428																																							uc003dzk.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(430-432)GGA>TGA		CD200 receptor 1 isoform d							124.0	118.0	120.0					3																	112648058		2203	4300	6503	SO:0001587	stop_gained	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648058C>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.430G>T	3.37:g.112648058C>A	ENSP00000418928:p.Gly144*					CD200R1_uc003dzj.1_Nonsense_Mutation_p.G167*|CD200R1_uc011bhx.1_Nonsense_Mutation_p.G122*|CD200R1_uc003dzl.1_Nonsense_Mutation_p.G167*|CD200R1_uc003dzm.1_Nonsense_Mutation_p.G144*	p.G144*	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			3	663	-			144			Ig-like C2-type.|Extracellular (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Nonsense_Mutation	SNP	ENST00000471858.1	37	c.430G>T	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340051	0.60963	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	.	.	.	5.47	0.105	0.14535	.	2.346280	0.01319	N	0.010869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	1.3496	0.02170	0.1351:0.3542:0.2646:0.2461	.	.	.	.	X	144;167;122;167;144	.	ENSP00000295863:G122X	G	-	1	0	CD200R1	114130748	0.000000	0.05858	0.000000	0.03702	0.535000	0.34838	-3.100000	0.00604	-0.011000	0.14247	0.557000	0.71058	GGA		0.428	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		19	93	1	0	2.4624e-09	0.008871	3.4631e-09	19	93				
GTPBP8	29083	broad.mit.edu	37	3	112710111	112710111	+	Missense_Mutation	SNP	G	G	A	rs146036883	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:112710111G>A	ENST00000383678.2	+	1	347	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	GTPBP8_ENST00000383677.3_Missense_Mutation_p.E89K|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000467752.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	89					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.E89K(1)		kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CACGGCCACTGAACGGAACCG	0.637																																							uc003dzn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GAA>AAA		GTP-binding protein 8 isoform 1							46.0	44.0	45.0					3																	112710111		2203	4300	6503	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112710111G>A	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.265G>A	3.37:g.112710111G>A	ENSP00000373176:p.Glu89Lys					GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.E89K	p.E89K	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN			1	312	+			89					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.265G>A	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633806	0.03584	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.41400	2.58;1.0	5.78	-0.849	0.10723	.	1.272510	0.04831	N	0.438691	T	0.24586	0.0596	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17258	-1.0375	10	0.06494	T	0.89	-5.8763	6.9137	0.24347	0.0611:0.3587:0.3913:0.1889	.	89;89	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	K	89	ENSP00000373176:E89K;ENSP00000373175:E89K	ENSP00000295864:E89K	E	+	1	0	GTPBP8	114192801	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.400000	0.07241	-0.067000	0.12976	-0.122000	0.15005	GAA		0.637	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		4	56	0	0	0	0.009096	0	4	56				
KIAA1407	57577	broad.mit.edu	37	3	113737532	113737532	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:113737532C>G	ENST00000295878.3	-	8	1302	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E217Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	386								p.E386Q(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TACCTGTTTTCTTCCCTAAGA	0.413																																							uc003eax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1156-1158)GAA>CAA		hypothetical protein LOC57577							134.0	147.0	142.0					3																	113737532		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113737532C>G	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1156G>C	3.37:g.113737532C>G	ENSP00000295878:p.Glu386Gln					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.E364Q|KIAA1407_uc011bip.1_Missense_Mutation_p.E373Q	p.E386Q	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			8	1303	-			386			Potential.		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1156G>C	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268437	0.40095	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.43688	1.48;0.95;0.94	5.76	3.93	0.45458	.	0.278433	0.40469	N	0.001100	T	0.21921	0.0528	N	0.14661	0.345	0.80722	D	1	B;B;B	0.28419	0.126;0.211;0.211	B;B;B	0.22601	0.027;0.04;0.027	T	0.06427	-1.0827	10	0.21540	T	0.41	.	8.6506	0.34033	0.0:0.5451:0.3618:0.0931	.	373;262;386	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	Q	386;217;373	ENSP00000295878:E386Q;ENSP00000446381:E217Q;ENSP00000418099:E373Q	ENSP00000295878:E386Q	E	-	1	0	KIAA1407	115220222	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.185000	0.50934	1.447000	0.47661	-0.140000	0.14226	GAA		0.413	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		18	241	0	0	0	0.008871	0	18	241				
LSAMP	4045	broad.mit.edu	37	3	115560789	115560789	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:115560789G>T	ENST00000490035.2	-	6	1321	c.822C>A	c.(820-822)tcC>tcA	p.S274S	LSAMP_ENST00000539563.1_Silent_p.S271S|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	274	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S274S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCACCGTCAGGGAAGACTGGC	0.488																																							uc003ebt.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(820-822)TCC>TCA		limbic system-associated membrane protein							116.0	98.0	104.0					3																	115560789		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560789G>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.822C>A	3.37:g.115560789G>T						LSAMP_uc011bis.1_Silent_p.S274S	p.S274S	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1322	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	274			Ig-like C2-type 3.		Q8IV49	Silent	SNP	ENST00000490035.2	37	c.822C>A	CCDS2982.1																																																																																				0.488	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		14	89	1	0	9.31168e-06	0.001855	1.1336e-05	14	89				
LSAMP	4045	broad.mit.edu	37	3	116163786	116163786	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:116163786G>T	ENST00000490035.2	-	1	592	c.93C>A	c.(91-93)agC>agA	p.S31R	LSAMP_ENST00000539563.1_Missense_Mutation_p.S28R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	31	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S31R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TAAAATCCACGCTGCGAACAG	0.577																																							uc003ebt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)AGC>AGA		limbic system-associated membrane protein							105.0	86.0	93.0					3																	116163786		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:116163786G>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.93C>A	3.37:g.116163786G>T	ENSP00000419000:p.Ser31Arg					LSAMP_uc011bis.1_Missense_Mutation_p.S31R|LSAMP_uc010hqq.1_RNA	p.S31R	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	1	593	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	31			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.93C>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566191	0.65651	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.61158	0.41;0.76;0.33;0.13	4.47	4.47	0.54385	Immunoglobulin-like (1);	0.127836	0.52532	D	0.000062	T	0.72819	0.3508	M	0.75447	2.3	0.34823	D	0.73884	P;D	0.63880	0.53;0.993	B;P	0.59948	0.234;0.866	T	0.83136	-0.0111	10	0.87932	D	0	-10.0064	16.3688	0.83346	0.0:0.0:1.0:0.0	.	31;31	B2RCU8;Q13449	.;LSAMP_HUMAN	R	15;31;28;65	ENSP00000328455:S15R;ENSP00000419000:S31R;ENSP00000443429:S28R;ENSP00000418506:S65R	ENSP00000328455:S15R	S	-	3	2	LSAMP	117646476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.775000	0.55349	2.328000	0.79073	0.650000	0.86243	AGC		0.577	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		10	28	1	0	1.04858e-14	0.006214	1.69623e-14	10	28				
MAATS1	89876	broad.mit.edu	37	3	119466073	119466073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:119466073G>T	ENST00000273390.5	+	15	2091	c.2014G>T	c.(2014-2016)Gag>Tag	p.E672*	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	508						mitochondrion (GO:0005739)		p.E672*(1)									GAAGATGGCTGAGAAAATCAA	0.393																																							uc003ede.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2014-2016)GAG>TAG		AAT1-alpha							98.0	87.0	91.0					3																	119466073		2203	4300	6503	SO:0001587	stop_gained	89876					mitochondrion	protein binding	g.chr3:119466073G>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.2014G>T	3.37:g.119466073G>T	ENSP00000273390:p.Glu672*					C3orf15_uc010hqz.2_Nonsense_Mutation_p.E610*|C3orf15_uc011bjd.1_Nonsense_Mutation_p.E546*|C3orf15_uc011bje.1_Nonsense_Mutation_p.E652*|C3orf15_uc003edg.3_5'Flank	p.E672*	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	15	2091	+			508			Potential.		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Nonsense_Mutation	SNP	ENST00000273390.5	37	c.2014G>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	38	6.836836	0.97873	.	.	ENSG00000183833	ENST00000273390	.	.	.	5.68	-3.06	0.05379	.	0.372869	0.29653	N	0.011550	.	.	.	.	.	.	0.35962	D	0.834661	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1104	2.597	0.04856	0.2481:0.2921:0.3605:0.0994	.	.	.	.	X	672	.	ENSP00000273390:E672X	E	+	1	0	C3orf15	120948763	0.005000	0.15991	0.945000	0.38365	0.989000	0.77384	-0.035000	0.12205	-0.255000	0.09486	0.591000	0.81541	GAG		0.393	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		14	46	1	0	0.000219431	0.00245	0.000251245	14	46				
GPR156	165829	broad.mit.edu	37	3	119887165	119887165	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:119887165T>A	ENST00000464295.1	-	10	1604	c.1159A>T	c.(1159-1161)Atg>Ttg	p.M387L	GPR156_ENST00000315843.3_Missense_Mutation_p.M387L|GPR156_ENST00000461057.1_Missense_Mutation_p.M383L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	387						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.M387L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCAGCTGACATCAGCCTCACA	0.512																																							uc011bjf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1159-1161)ATG>TTG		G protein-coupled receptor 156							46.0	50.0	49.0					3																	119887165		2203	4299	6502	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119887165T>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1159A>T	3.37:g.119887165T>A	ENSP00000417261:p.Met387Leu					GPR156_uc011bjg.1_Missense_Mutation_p.M383L	p.M387L	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	1159	-			387			Cytoplasmic (Potential).|Potential.		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1159A>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117538	0.77323	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.25085	1.82;1.82;1.83	5.55	4.4	0.53042	.	0.057679	0.64402	D	0.000001	T	0.26304	0.0642	M	0.72894	2.215	0.39810	D	0.972696	B;B	0.34372	0.451;0.451	B;B	0.30179	0.112;0.112	T	0.07028	-1.0794	9	.	.	.	-26.4556	10.8206	0.46601	0.0:0.0732:0.0:0.9268	.	383;387	E9PFZ4;Q8NFN8	.;GP156_HUMAN	L	387;387;383	ENSP00000417261:M387L;ENSP00000324553:M387L;ENSP00000418758:M383L	.	M	-	1	0	GPR156	121369855	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.438000	0.52871	1.128000	0.42052	0.482000	0.46254	ATG		0.512	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		25	49	0	0	0	0.003954	0	25	49				
STXBP5L	9515	broad.mit.edu	37	3	121126217	121126217	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:121126217G>T	ENST00000273666.6	+	24	3058	c.2787G>T	c.(2785-2787)tgG>tgT	p.W929C	STXBP5L_ENST00000497029.1_Missense_Mutation_p.W903C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.W905C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.W905C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.W929C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	929					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W929C(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAAATCTTGGAGAAGGAAAG	0.393																																							uc003eec.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(2785-2787)TGG>TGT		syntaxin binding protein 5-like							96.0	93.0	94.0					3																	121126217		1850	4088	5938	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126217G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2787G>T	3.37:g.121126217G>T	ENSP00000273666:p.Trp929Cys					STXBP5L_uc011bji.1_Missense_Mutation_p.W905C	p.W929C	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	2927	+			929			WD 12.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2787G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877695	0.51801	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	4.69	2.89	0.33648	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.060907	0.64402	D	0.000005	T	0.23688	0.0573	L	0.34521	1.04	0.51233	D	0.999915	P;P	0.47545	0.897;0.897	P;P	0.51055	0.537;0.657	T	0.02345	-1.1173	10	0.54805	T	0.06	-1.7446	11.4629	0.50221	0.1553:0.0:0.8447:0.0	.	905;929	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	C	929;905;905;903;929;872	ENSP00000273666:W929C;ENSP00000420019:W905C;ENSP00000419627:W905C;ENSP00000420287:W903C;ENSP00000420666:W929C;ENSP00000420167:W872C	ENSP00000273666:W929C	W	+	3	0	STXBP5L	122608907	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.687000	0.37680	1.337000	0.45525	0.650000	0.86243	TGG		0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			20	53	1	0	7.41877e-09	0.001882	1.0265e-08	20	53				
GOLGB1	2804	broad.mit.edu	37	3	121417022	121417022	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:121417022C>G	ENST00000340645.5	-	13	2458	c.2333G>C	c.(2332-2334)aGg>aCg	p.R778T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R783T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	778					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R778T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTCTTTGCCTTTCTGCTTC	0.433																																							uc003eei.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(2332-2334)AGG>ACG		golgi autoantigen, golgin subfamily b,							177.0	171.0	173.0					3																	121417022		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417022C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2333G>C	3.37:g.121417022C>G	ENSP00000341848:p.Arg778Thr					GOLGB1_uc010hrc.2_Missense_Mutation_p.R783T|GOLGB1_uc003eej.3_Missense_Mutation_p.R744T|GOLGB1_uc011bjm.1_Missense_Mutation_p.R664T|GOLGB1_uc010hrd.1_Missense_Mutation_p.R742T	p.R778T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2459	-			778			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2333G>C	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.921|7.921	0.738624|0.738624	0.15642|0.15642	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|T;T;T	.|0.23754	.|2.48;2.48;1.89	5.72|5.72	-1.98|-1.98	0.07480|0.07480	.|.	.|0.682527	.|0.14206	.|N	.|0.334368	T|T	0.19927|0.19927	0.0479|0.0479	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;B	.|0.25904	.|0.137;0.029;0.137;0.137;0.137	.|B;B;B;B;B	.|0.28011	.|0.058;0.015;0.085;0.085;0.058	T|T	0.22034|0.22034	-1.0228|-1.0228	5|10	.|0.38643	.|T	.|0.18	.|.	6.9877|6.9877	0.24737|0.24737	0.1196:0.3179:0.0:0.5626|0.1196:0.3179:0.0:0.5626	.|.	.|703;742;783;783;778	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	R|T	649|778;783;742;590	.|ENSP00000341848:R778T;ENSP00000377275:R783T;ENSP00000418231:R742T	.|ENSP00000341848:R778T	G|R	-|-	1|2	0|0	GOLGB1|GOLGB1	122899712|122899712	0.012000|0.012000	0.17670|0.17670	0.939000|0.939000	0.37840|0.37840	0.929000|0.929000	0.56500|0.56500	-0.064000|-0.064000	0.11636|0.11636	-0.265000|-0.265000	0.09352|0.09352	-0.345000|-0.345000	0.07892|0.07892	GGC|AGG		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		42	123	0	0	0	0.002852	0	42	123				
EEFSEC	60678	broad.mit.edu	37	3	127983561	127983561	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:127983561G>T	ENST00000254730.6	+	4	777	c.723G>T	c.(721-723)atG>atT	p.M241I	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	241					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.M241I(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCACTGTGATGACAGGGACCA	0.562																																							uc003eki.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)ATG>ATT		eukaryotic elongation factor,							198.0	144.0	162.0					3																	127983561		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127983561G>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.723G>T	3.37:g.127983561G>T	ENSP00000254730:p.Met241Ile					EEFSEC_uc003ekj.2_Intron	p.M241I	NM_021937	NP_068756	P57772	SELB_HUMAN			4	761	+			241					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.723G>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208603	0.58343	.	.	ENSG00000132394	ENST00000254730	T	0.60797	0.16	5.35	5.35	0.76521	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.036053	0.85682	D	0.000000	T	0.46268	0.1384	N	0.11892	0.195	0.80722	D	1	B	0.25048	0.117	B	0.31751	0.135	T	0.40831	-0.9542	10	0.40728	T	0.16	-0.9964	19.0574	0.93070	0.0:0.0:1.0:0.0	.	241	P57772	SELB_HUMAN	I	241	ENSP00000254730:M241I	ENSP00000254730:M241I	M	+	3	0	EEFSEC	129466251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.521000	0.84997	0.591000	0.81541	ATG		0.562	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		38	111	1	0	2.52637e-11	0.005524	3.7773e-11	38	111				
KIAA1257	57501	broad.mit.edu	37	3	128695883	128695883	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:128695883A>T	ENST00000265068.5	-	6	1002	c.835T>A	c.(835-837)Tct>Act	p.S279T	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.S279T|KIAA1257_ENST00000515659.1_Missense_Mutation_p.S167T	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	279								p.S279T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTCTTGGAAGAAGTTTCGGGC	0.443																																							uc003elj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(835-837)TCT>ACT		hypothetical protein LOC57501							120.0	112.0	114.0					3																	128695883		1867	4095	5962	SO:0001583	missense	57501							g.chr3:128695883A>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.835T>A	3.37:g.128695883A>T	ENSP00000265068:p.Ser279Thr					KIAA1257_uc003elg.1_Missense_Mutation_p.S279T|KIAA1257_uc003eli.3_Missense_Mutation_p.S167T	p.S279T	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			6	1031	-			279					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.835T>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	A	6.594	0.477996	0.12521	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.62	-0.037	0.13886	.	0.865293	0.09713	N	0.765458	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	P;P	0.46512	0.879;0.879	B;B	0.39660	0.306;0.306	T	0.16364	-1.0405	9	0.19590	T	0.45	-0.001	5.7894	0.18351	0.6163:0.0:0.3837:0.0	.	279;279	Q9ULG3;D6RH05	K1257_HUMAN;.	T	279;279;167	.	ENSP00000265068:S279T	S	-	1	0	KIAA1257	130178573	0.000000	0.05858	0.004000	0.12327	0.064000	0.16182	-1.060000	0.03475	-0.007000	0.14345	0.477000	0.44152	TCT		0.443	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		5	73	0	0	0	0.001168	0	5	73				
ATP2C1	27032	broad.mit.edu	37	3	130678149	130678149	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:130678149G>T	ENST00000510168.1	+	12	1413	c.863G>T	c.(862-864)gGa>gTa	p.G288V	ATP2C1_ENST00000422190.2_Missense_Mutation_p.G288V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.G272V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.G322V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.G272V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.G283V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.G233V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.G288V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.G288V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.G272V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.G272V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.G288V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.G288V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	288					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.G288V(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGTTACTGGGAAAAGATATC	0.333									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(862-864)GGA>GTA		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						152.0	157.0	156.0					3																	130678149		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130678149G>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.863G>T	3.37:g.130678149G>T	ENSP00000427461:p.Gly288Val					ATP2C1_uc011blg.1_Missense_Mutation_p.G322V|ATP2C1_uc011blh.1_Missense_Mutation_p.G283V|ATP2C1_uc011bli.1_Missense_Mutation_p.G322V|ATP2C1_uc003enk.2_Missense_Mutation_p.G272V|ATP2C1_uc003enm.2_Missense_Mutation_p.G288V|ATP2C1_uc003enn.2_Missense_Mutation_p.G272V|ATP2C1_uc003eno.2_Missense_Mutation_p.G288V|ATP2C1_uc003enp.2_Missense_Mutation_p.G288V|ATP2C1_uc003enq.2_Missense_Mutation_p.G288V|ATP2C1_uc003enr.2_Missense_Mutation_p.G288V|ATP2C1_uc003ens.2_Missense_Mutation_p.G288V|ATP2C1_uc003ent.2_Missense_Mutation_p.G288V	p.G288V	NM_014382	NP_055197	P98194	AT2C1_HUMAN			12	1085	+			288			Lumenal (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.863G>T	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.24|18.24	3.580657|3.580657	0.65992|0.65992	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.91295	.|-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.59|5.59	4.72|4.72	0.59763|0.59763	.|ATPase, P-type, ATPase-associated domain (1);	.|0.000000	.|0.85682	.|U	.|0.000000	.|D	.|0.96343	.|0.8807	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.76494	.|0.998;0.996;0.997;0.998;0.997;0.998;0.999	.|D;D;D;D;D;D;D	.|0.76071	.|0.958;0.961;0.987;0.958;0.987;0.958;0.976	.|D	.|0.97134	.|0.9820	.|10	.|0.72032	.|D	.|0.01	.|.	14.5357|14.5357	0.67958|0.67958	0.0704:0.0:0.9296:0.0|0.0704:0.0:0.9296:0.0	.|.	.|322;283;322;288;322;288;288	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	X|V	242|272;233;272;322;283;288;288;272;272;288;288;288;288;287;27	.|ENSP00000423774:G272V;ENSP00000425320:G233V;ENSP00000421326:G272V;ENSP00000376914:G322V;ENSP00000432956:G283V;ENSP00000427461:G288V;ENSP00000424783:G288V;ENSP00000423330:G272V;ENSP00000422872:G272V;ENSP00000329664:G288V;ENSP00000395809:G288V;ENSP00000352665:G288V;ENSP00000402677:G288V;ENSP00000422890:G27V	.|ENSP00000329664:G288V	E|G	+|+	1|2	0|0	ATP2C1|ATP2C1	132160839|132160839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.507000|0.507000	0.33981|0.33981	9.230000|9.230000	0.95299|0.95299	1.375000|1.375000	0.46248|0.46248	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.333	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		9	34	1	0	0.000978159	0.000978	0.00108999	9	34				
TF	7018	broad.mit.edu	37	3	133478117	133478117	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:133478117G>C	ENST00000402696.3	+	9	1632	c.1147G>C	c.(1147-1149)Ggg>Cgg	p.G383R	TF_ENST00000264998.3_Missense_Mutation_p.G256R	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	383	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.G383R(1)|p.G383W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TAACAGTGTAGGGAAAATAGA	0.532																																							uc003epu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1147-1149)GGG>CGG		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						185.0	172.0	176.0					3																	133478117		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133478117G>C		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1147G>C	3.37:g.133478117G>C	ENSP00000385834:p.Gly383Arg					TF_uc011blt.1_Missense_Mutation_p.G256R|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.G383R	p.G383R	NM_001063	NP_001054	P02787	TRFE_HUMAN			14	2875	+			383			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1147G>C	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866671	0.72065	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.06849	3.25;3.25	4.79	4.79	0.61399	.	0.361879	0.34025	N	0.004326	T	0.22589	0.0545	M	0.63428	1.95	0.43073	D	0.99471	D	0.56521	0.976	P	0.57283	0.817	T	0.00317	-1.1822	10	0.62326	D	0.03	-35.1778	17.1275	0.86718	0.0:0.0:1.0:0.0	.	383	P02787	TRFE_HUMAN	R	383;256	ENSP00000385834:G383R;ENSP00000264998:G256R	ENSP00000264998:G256R	G	+	1	0	TF	134960807	1.000000	0.71417	0.167000	0.22817	0.117000	0.20001	4.687000	0.61708	2.645000	0.89757	0.462000	0.41574	GGG		0.532	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		26	113	0	0	0	0.003954	0	26	113				
EPHB1	2047	broad.mit.edu	37	3	134670882	134670882	+	Missense_Mutation	SNP	G	G	T	rs200018500	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:134670882G>T	ENST00000398015.3	+	3	1163	c.793G>T	c.(793-795)Gtg>Ttg	p.V265L	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	265	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.V265L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGAGAACAGCGTGGCATGCAA	0.552																																							uc003eqt.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(793-795)GTG>TTG		ephrin receptor EphB1 precursor							119.0	116.0	117.0					3																	134670882		2119	4250	6369	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670882G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.793G>T	3.37:g.134670882G>T	ENSP00000381097:p.Val265Leu					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	p.V265L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	1013	+			265			Extracellular (Potential).|Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.793G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.924133	0.18056	.	.	ENSG00000154928	ENST00000398015	T	0.73152	-0.72	5.74	0.64	0.17752	.	0.332943	0.32190	N	0.006443	T	0.56411	0.1983	L	0.34521	1.04	0.80722	D	1	B	0.29612	0.251	B	0.33750	0.169	T	0.39702	-0.9601	9	.	.	.	.	10.047	0.42192	0.3526:0.0:0.6474:0.0	.	265	P54762	EPHB1_HUMAN	L	265	ENSP00000381097:V265L	.	V	+	1	0	EPHB1	136153572	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	2.245000	0.43133	0.054000	0.16065	-0.214000	0.12660	GTG		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		32	135	1	0	2.68265e-12	0.002836	4.09186e-12	32	135				
A4GNT	51146	broad.mit.edu	37	3	137850009	137850009	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:137850009G>T	ENST00000236709.3	-	2	291	c.90C>A	c.(88-90)ctC>ctA	p.L30L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	30					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.L30L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCAAACAGAAGAGGCAGCTGG	0.557																																							uc003ers.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(88-90)CTC>CTA		alpha-1,4-N-acetylglucosaminyltransferase							84.0	84.0	84.0					3																	137850009		2203	4300	6503	SO:0001819	synonymous_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137850009G>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.90C>A	3.37:g.137850009G>T							p.L30L	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			2	292	-			30			Lumenal (Potential).		Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	c.90C>A	CCDS3097.1																																																																																				0.557	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		27	61	1	0	2.65835e-16	0.007291	4.40673e-16	27	61				
TRIM42	287015	broad.mit.edu	37	3	140397213	140397213	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:140397213C>A	ENST00000286349.3	+	1	333	c.142C>A	c.(142-144)Cgg>Agg	p.R48R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	48	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R48R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAGATGAGCGGAACTGCCA	0.542																																							uc003eto.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(142-144)CGG>AGG		tripartite motif-containing 42							185.0	158.0	167.0					3																	140397213		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140397213C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.142C>A	3.37:g.140397213C>A							p.R48R	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	333	+			48			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.142C>A	CCDS3113.1																																																																																				0.542	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		17	169	1	0	2.23348e-06	0.004007	2.78733e-06	17	169				
SLC9A9	285195	broad.mit.edu	37	3	143214218	143214218	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:143214218G>T	ENST00000316549.6	-	10	1370	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	388					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.Q388K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ATATGATTCTGGAACGTGAAC	0.353																																							uc003evn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1162-1164)CAG>AAG		solute carrier family 9 (sodium/hydrogen							115.0	118.0	117.0					3																	143214218		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143214218G>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1162C>A	3.37:g.143214218G>T	ENSP00000320246:p.Gln388Lys						p.Q388K	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			10	1344	-			388			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1162C>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338210	0.81911	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15256	2.44	5.79	5.79	0.91817	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000001	T	0.29458	0.0734	L	0.31420	0.93	0.58432	D	0.999998	D	0.59357	0.985	D	0.73708	0.981	T	0.01951	-1.1241	10	0.09084	T	0.74	.	20.0332	0.97547	0.0:0.0:1.0:0.0	.	388	Q8IVB4	SL9A9_HUMAN	K	388;271	ENSP00000320246:Q388K	ENSP00000320246:Q388K	Q	-	1	0	SLC9A9	144696908	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.749000	0.94314	0.491000	0.48974	CAG		0.353	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		44	129	1	0	1.0096e-33	0.00361	1.89839e-33	44	129				
PLOD2	5352	broad.mit.edu	37	3	145809634	145809634	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:145809634C>A	ENST00000360060.3	-	8	1009	c.832G>T	c.(832-834)Ggc>Tgc	p.G278C	PLOD2_ENST00000494950.1_Missense_Mutation_p.G223C|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.G278C	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	278					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.G278C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AGAGTGCAGCCATTATCCTGT	0.363																																							uc003evs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(832-834)GGC>TGC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						106.0	95.0	98.0					3																	145809634		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145809634C>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.832G>T	3.37:g.145809634C>A	ENSP00000353170:p.Gly278Cys					PLOD2_uc011bnm.1_Missense_Mutation_p.G223C|PLOD2_uc003evr.1_Missense_Mutation_p.G278C	p.G278C	NM_000935	NP_000926	O00469	PLOD2_HUMAN			8	1338	-			278					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.832G>T	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938677	0.92526	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	T;T;T	0.70045	-0.45;-0.41;-0.41	6.06	6.06	0.98353	.	0.044257	0.85682	D	0.000000	D	0.85635	0.5742	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87048	0.2145	10	0.87932	D	0	-16.0961	19.4112	0.94673	0.0:1.0:0.0:0.0	.	223;278;278	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	C	278;278;223	ENSP00000282903:G278C;ENSP00000353170:G278C;ENSP00000420094:G223C	ENSP00000282903:G278C	G	-	1	0	PLOD2	147292324	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	4.955000	0.63638	2.880000	0.98712	0.650000	0.86243	GGC		0.363	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		9	40	1	0	0.000978159	0.000978	0.00108999	9	40				
PLSCR4	57088	broad.mit.edu	37	3	145912942	145912942	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:145912942T>A	ENST00000354952.2	-	8	1154	c.914A>T	c.(913-915)aAa>aTa	p.K305I	PLSCR4_ENST00000493382.1_Missense_Mutation_p.K305I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.K215I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.K305I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.K200I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	305					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.K305I(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AATCATGGCTTTCATCTTCAC	0.413																																							uc010huy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(913-915)AAA>ATA		phospholipid scramblase 4 isoform a							138.0	116.0	124.0					3																	145912942		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145912942T>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.914A>T	3.37:g.145912942T>A	ENSP00000347038:p.Lys305Ile					PLSCR4_uc010huz.2_Missense_Mutation_p.K305I|PLSCR4_uc003evt.3_Missense_Mutation_p.K305I|PLSCR4_uc010hva.2_Missense_Mutation_p.K215I|PLSCR4_uc003evu.3_Missense_Mutation_p.K200I	p.K305I	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			8	1243	-			305			Helical; (Potential).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.914A>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426564	0.62733	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000006	T	0.66886	0.2835	M	0.91818	3.245	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75488	-0.3300	10	0.87932	D	0	.	13.6582	0.62349	0.0:0.0:0.0:1.0	.	215;305	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	I	305;215;200;305;305	ENSP00000347038:K305I;ENSP00000372561:K215I;ENSP00000415605:K200I;ENSP00000399315:K305I;ENSP00000419040:K305I	ENSP00000347038:K305I	K	-	2	0	PLSCR4	147395632	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.773000	0.75006	2.118000	0.64928	0.482000	0.46254	AAA		0.413	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		14	43	0	0	0	0.001855	0	14	43				
ZIC4	84107	broad.mit.edu	37	3	147114196	147114196	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:147114196G>A	ENST00000383075.3	-	3	643	c.131C>T	c.(130-132)cCg>cTg	p.P44L	ZIC4_ENST00000473123.1_Missense_Mutation_p.P44L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.P94L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P44L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P82L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	44						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P44L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGGAGGCCCGGGAACACCGA	0.677																																							uc003ewd.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(130-132)CCG>CTG		zinc finger protein of the cerebellum 4							18.0	23.0	21.0					3																	147114196		1927	4131	6058	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114196G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.131C>T	3.37:g.147114196G>A	ENSP00000372553:p.Pro44Leu					ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.P94L	p.P44L	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	404	-			44					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.131C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293745	0.80914	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.16	4.29	0.51040	.	0.148607	0.30879	N	0.008699	T	0.42245	0.1194	M	0.72479	2.2	0.80722	D	1	B;B	0.31989	0.106;0.35	B;B	0.26770	0.043;0.073	T	0.46162	-0.9211	10	0.87932	D	0	.	13.3901	0.60818	0.0759:0.0:0.9241:0.0	.	94;44	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	L	44;82;94;44;44;44;44;44	ENSP00000372553:P44L;ENSP00000397695:P82L;ENSP00000435509:P94L;ENSP00000417855:P44L;ENSP00000420775:P44L;ENSP00000420627:P44L	ENSP00000372553:P44L	P	-	2	0	ZIC4	148596886	1.000000	0.71417	0.725000	0.30721	0.965000	0.64279	6.434000	0.73408	1.173000	0.42796	0.561000	0.74099	CCG		0.677	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			6	29	0	0	0	0.001168	0	6	29				
AGTR1	185	broad.mit.edu	37	3	148459392	148459392	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:148459392C>T	ENST00000497524.1	+	2	961	c.570C>T	c.(568-570)acC>acT	p.T190T	AGTR1_ENST00000402260.1_Silent_p.T190T|AGTR1_ENST00000474935.1_Silent_p.T190T|AGTR1_ENST00000461609.1_Silent_p.T190T|AGTR1_ENST00000418473.2_Silent_p.T190T|AGTR1_ENST00000542281.1_Silent_p.T190T|AGTR1_ENST00000475347.1_Silent_p.T190T|AGTR1_ENST00000349243.3_Silent_p.T190T|AGTR1_ENST00000404754.2_Silent_p.T190T	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	190					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.T190T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAATTCAACCCTCCCGATAG	0.398																																							uc003ewg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)ACC>ACT		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						66.0	72.0	70.0					3																	148459392		2203	4300	6503	SO:0001819	synonymous_variant	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459392C>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.570C>T	3.37:g.148459392C>T						AGTR1_uc003ewh.2_Silent_p.T190T|AGTR1_uc003ewi.2_Silent_p.T190T|AGTR1_uc003ewj.2_Silent_p.T190T|AGTR1_uc003ewk.2_Silent_p.T190T	p.T190T	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1016	+			190			Extracellular (Potential).		Q13725|Q8TBK4	Silent	SNP	ENST00000497524.1	37	c.570C>T	CCDS3137.1																																																																																				0.398	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			9	76	0	0	0	0.008291	0	9	76				
HPS3	84343	broad.mit.edu	37	3	148847543	148847543	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:148847543G>T	ENST00000296051.2	+	1	173	c.33G>T	c.(31-33)ggG>ggT	p.G11G	HPS3_ENST00000460120.1_Silent_p.G11G|HPS3_ENST00000494327.1_3'UTR	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	11					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.G11G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCCGTTCGGGTCGCAGCAGG	0.726									Hermansky-Pudlak syndrome																														uc003ewu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(1)	6						c.(31-33)GGG>GGT		Hermansky-Pudlak syndrome 3 protein							17.0	17.0	17.0					3																	148847543		2187	4280	6467	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148847543G>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.33G>T	3.37:g.148847543G>T						HPS3_uc003ewt.1_Silent_p.G11G|HPS3_uc011bnq.1_Silent_p.G11G	p.G11G	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	173	+			11					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.33G>T	CCDS3140.1																																																																																				0.726	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		6	14	1	0	8.12818e-05	0.001984	9.43997e-05	6	14				
MED12L	116931	broad.mit.edu	37	3	151083776	151083776	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:151083776A>G	ENST00000474524.1	+	21	3257	c.3219A>G	c.(3217-3219)gtA>gtG	p.V1073V	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.V933V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1073						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V1073V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGCACTGTAGATGTAAGTT	0.343																																							uc003eyp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3217-3219)GTA>GTG		mediator of RNA polymerase II transcription,							100.0	104.0	103.0					3																	151083776		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151083776A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3219A>G	3.37:g.151083776A>G						MED12L_uc011bnz.1_Silent_p.V933V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.V236V	p.V1073V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		21	3257	+			1073					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.3219A>G	CCDS33876.1																																																																																				0.343	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		16	133	0	0	0	0.00499	0	16	133				
P2RY1	5028	broad.mit.edu	37	3	152553901	152553901	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:152553901C>G	ENST00000305097.3	+	1	1166	c.330C>G	c.(328-330)taC>taG	p.Y110*		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	110					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.Y110*(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGATCTTCTACTACTTCAATA	0.478																																							uc003ezq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(328-330)TAC>TAG		purinergic receptor P2Y1							80.0	77.0	78.0					3																	152553901		2203	4300	6503	SO:0001587	stop_gained	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553901C>G	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.330C>G	3.37:g.152553901C>G	ENSP00000304767:p.Tyr110*						p.Y110*	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1166	+			110			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000305097.3	37	c.330C>G	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	45	11.444309	0.99562	.	.	ENSG00000169860	ENST00000305097	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1193	0.53883	0.0:0.9223:0.0:0.0777	.	.	.	.	X	110	.	ENSP00000304767:Y110X	Y	+	3	2	P2RY1	154036591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.116000	0.41930	2.659000	0.90383	0.655000	0.94253	TAC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		20	82	0	0	0	0.010504	0	20	82				
GPR149	344758	broad.mit.edu	37	3	154147120	154147120	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:154147120G>A	ENST00000389740.2	-	1	384	c.285C>T	c.(283-285)aaC>aaT	p.N95N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	95					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N95N(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CGGGGACCTCGTTTGGCCACT	0.498																																							uc003faa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(283-285)AAC>AAT		G protein-coupled receptor 149							92.0	96.0	95.0					3																	154147120		2027	4179	6206	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147120G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.285C>T	3.37:g.154147120G>A							p.N95N	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	385	-			95			Extracellular (Potential).			Silent	SNP	ENST00000389740.2	37	c.285C>T	CCDS43162.1																																																																																				0.498	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		29	102	0	0	0	0.009535	0	29	102				
KCNAB1	7881	broad.mit.edu	37	3	156170725	156170725	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:156170725G>T	ENST00000490337.1	+	3	421	c.357G>T	c.(355-357)gaG>gaT	p.E119D	KCNAB1_ENST00000389636.5_Splice_Site_p.E119D|KCNAB1_ENST00000471742.1_Splice_Site_p.E108D|KCNAB1_ENST00000389634.5_Splice_Site_p.E101D|KCNAB1_ENST00000302490.8_Splice_Site_p.E101D	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	119					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.E119D(1)|p.E101D(1)|p.E108D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGATGAGGTAAGTTACC	0.368																																							uc003far.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(1)	4						c.(355-357)GAG>GAT		potassium voltage-gated channel, shaker-related							108.0	120.0	116.0					3																	156170725		2203	4300	6503	SO:0001630	splice_region_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156170725G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.357+1G>T	3.37:g.156170725G>T						KCNAB1_uc011bon.1_Missense_Mutation_p.E119D|KCNAB1_uc003fas.2_Missense_Mutation_p.E108D|KCNAB1_uc003fat.2_Missense_Mutation_p.E101D|KCNAB1_uc010hvt.1_Missense_Mutation_p.E101D	p.E119D	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	421	+			119					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.357G>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281457	0.40394	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.71	5.71	0.89125	NADP-dependent oxidoreductase domain (3);	0.051090	0.85682	D	0.000000	T	0.25606	0.0623	L	0.31578	0.945	0.52501	D	0.999958	B;B;B;B;B	0.27823	0.19;0.054;0.001;0.006;0.008	B;B;B;B;B	0.37304	0.246;0.072;0.025;0.035;0.059	T	0.05022	-1.0911	10	0.31617	T	0.26	-9.9673	15.3774	0.74621	0.0:0.0:1.0:0.0	.	119;101;101;108;119	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	D	37;119;119;108;62;101;101	ENSP00000420755:E37D;ENSP00000419952:E119D;ENSP00000374287:E119D;ENSP00000418956:E108D;ENSP00000420221:E62D;ENSP00000305858:E101D;ENSP00000374285:E101D	ENSP00000305858:E101D	E	+	3	2	KCNAB1	157653419	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.605000	0.61119	2.686000	0.91538	0.650000	0.86243	GAG		0.368	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	Missense_Mutation	43	168	1	0	2.01807e-28	0.00361	3.69979e-28	43	168				
IQCJ	654502	broad.mit.edu	37	3	158983078	158983078	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:158983078T>A	ENST00000451172.1	+	5	471	c.366T>A	c.(364-366)ccT>ccA	p.P122P	IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000482126.1_Silent_p.P95P|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	122								p.P122P(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			ACAAGTTGCCTGGTGGAAGGA	0.493																																							uc003fcp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)CCT>CCA		IQ motif containing J isoform CaMBPv1							147.0	144.0	145.0					3																	158983078		1916	4134	6050	SO:0001819	synonymous_variant	654502							g.chr3:158983078T>A	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.366T>A	3.37:g.158983078T>A						SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Silent_p.P95P	p.P122P	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	471	+			122					B7ZMM2|B9EH97|Q1A5X5	Silent	SNP	ENST00000451172.1	37	c.366T>A	CCDS46946.1																																																																																				0.493	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		38	173	0	0	0	0.006999	0	38	173				
SI	6476	broad.mit.edu	37	3	164709192	164709192	+	Missense_Mutation	SNP	C	C	T	rs191598487		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:164709192C>T	ENST00000264382.3	-	44	5119	c.5057G>A	c.(5056-5058)cGt>cAt	p.R1686H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1686	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.R1686H(1)|p.R1686L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTGACCACCACGGACATGTAG	0.388										HNSCC(35;0.089)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		16863	0.0		0.0	False		,,,				2504	0.0						uc003fei.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5056-5058)CGT>CAT		sucrase-isomaltase	Acarbose(DB00284)						148.0	136.0	140.0					3																	164709192		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164709192C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5057G>A	3.37:g.164709192C>T	ENSP00000264382:p.Arg1686His	HNSCC(35;0.089)					p.R1686H	NM_001041	NP_001032	P14410	SUIS_HUMAN			44	5119	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1686			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5057G>A	CCDS3196.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	28.3	4.906877	0.92107	.	.	ENSG00000090402	ENST00000264382	D	0.89050	-2.46	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	M	0.86805	2.84	0.58432	D	0.999994	D	0.89917	1.0	D	0.78314	0.991	D	0.95856	0.8879	10	0.87932	D	0	.	17.6031	0.88030	0.0:1.0:0.0:0.0	.	1686	P14410	SUIS_HUMAN	H	1686	ENSP00000264382:R1686H	ENSP00000264382:R1686H	R	-	2	0	SI	166191886	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.778000	0.75043	2.476000	0.83614	0.467000	0.42956	CGT		0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	64	0	0	0	0.000978	0	10	64				
SI	6476	broad.mit.edu	37	3	164710132	164710132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:164710132G>T	ENST00000264382.3	-	42	4957	c.4895C>A	c.(4894-4896)cCa>cAa	p.P1632Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1632	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P1632Q(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CATAAATGCTGGACCCCATAA	0.313										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4894-4896)CCA>CAA		sucrase-isomaltase	Acarbose(DB00284)						59.0	61.0	60.0					3																	164710132		2202	4300	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164710132G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4895C>A	3.37:g.164710132G>T	ENSP00000264382:p.Pro1632Gln	HNSCC(35;0.089)					p.P1632Q	NM_001041	NP_001032	P14410	SUIS_HUMAN			42	4957	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1632			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4895C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947454	0.73672	.	.	ENSG00000090402	ENST00000264382	D	0.83673	-1.75	4.88	4.88	0.63580	.	0.111427	0.64402	D	0.000008	D	0.92244	0.7540	M	0.87827	2.91	0.43010	D	0.994548	D	0.89917	1.0	D	0.83275	0.996	D	0.93093	0.6501	10	0.59425	D	0.04	.	18.1895	0.89803	0.0:0.0:1.0:0.0	.	1632	P14410	SUIS_HUMAN	Q	1632	ENSP00000264382:P1632Q	ENSP00000264382:P1632Q	P	-	2	0	SI	166192826	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.118000	0.77137	2.689000	0.91719	0.655000	0.94253	CCA		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		5	62	1	0	3.59834e-05	0.001168	4.24306e-05	5	62				
SLITRK3	22865	broad.mit.edu	37	3	164906357	164906357	+	Silent	SNP	G	G	T	rs146211129		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:164906357G>T	ENST00000475390.1	-	2	2705	c.2262C>A	c.(2260-2262)ccC>ccA	p.P754P	SLITRK3_ENST00000241274.3_Silent_p.P754P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	754					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P754P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTTGTAGATGGGGTTGTTGC	0.582										HNSCC(40;0.11)																													uc003fej.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2260-2262)CCC>CCA		slit and trk like 3 protein precursor							81.0	81.0	81.0					3																	164906357		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906357G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2262C>A	3.37:g.164906357G>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.P754P	p.P754P	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2706	-			754			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2262C>A	CCDS3197.1																																																																																				0.582	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		23	107	1	0	1.96895e-08	0.00278	2.67152e-08	23	107				
SLC7A14	57709	broad.mit.edu	37	3	170244607	170244607	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:170244607C>G	ENST00000231706.5	-	2	434	c.119G>C	c.(118-120)gGg>gCg	p.G40A	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	40					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.G40A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CGTGGTGGTCCCAGTTCCCTC	0.597																																							uc003fgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(118-120)GGG>GCG		solute carrier family 7 (cationic amino acid							210.0	163.0	179.0					3																	170244607		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170244607C>G	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.119G>C	3.37:g.170244607C>G	ENSP00000231706:p.Gly40Ala					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.G40A	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		2	435	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		40					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.119G>C	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	9.166	1.019907	0.19355	.	.	ENSG00000013293	ENST00000231706	D	0.87179	-2.22	5.16	5.16	0.70880	.	0.291337	0.33792	N	0.004545	T	0.73536	0.3599	N	0.12182	0.205	0.50632	D	0.999882	B	0.06786	0.001	B	0.06405	0.002	T	0.67998	-0.5525	10	0.05833	T	0.94	.	14.6648	0.68899	0.0:0.8549:0.1451:0.0	.	40	Q8TBB6	S7A14_HUMAN	A	40	ENSP00000231706:G40A	ENSP00000231706:G40A	G	-	2	0	SLC7A14	171727301	0.769000	0.28531	1.000000	0.80357	0.722000	0.41435	2.644000	0.46613	2.575000	0.86900	0.556000	0.70494	GGG		0.597	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		17	36	0	0	0	0.00499	0	17	36				
ECT2	1894	broad.mit.edu	37	3	172474945	172474945	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:172474945A>G	ENST00000392692.3	+	5	652	c.476A>G	c.(475-477)cAa>cGa	p.Q159R	ECT2_ENST00000441497.2_Missense_Mutation_p.Q128R|ECT2_ENST00000427830.1_Missense_Mutation_p.Q128R|ECT2_ENST00000540509.1_Missense_Mutation_p.Q159R|ECT2_ENST00000232458.5_Missense_Mutation_p.Q128R|ECT2_ENST00000417960.1_Missense_Mutation_p.Q127R	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	159					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.Q128R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AATTGTTCACAAAAAGGAGAG	0.279																																							uc003fii.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(382-384)CAA>CGA		epithelial cell transforming sequence 2 oncogene							73.0	74.0	74.0					3																	172474945		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172474945A>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.476A>G	3.37:g.172474945A>G	ENSP00000376457:p.Gln159Arg					ECT2_uc010hwv.1_Missense_Mutation_p.Q159R|ECT2_uc003fih.2_Missense_Mutation_p.Q127R|ECT2_uc003fij.1_Missense_Mutation_p.Q128R|ECT2_uc003fik.1_Missense_Mutation_p.Q128R|ECT2_uc003fil.1_Missense_Mutation_p.Q159R	p.Q128R	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		4	521	+	Ovarian(172;0.00197)|Breast(254;0.158)		128					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.383A>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740885	0.30865	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000415665;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T	0.44482	2.86;2.86;2.86;2.86;2.86;0.92;2.86;2.86	5.95	5.95	0.96441	BRCT (3);	0.366511	0.32884	N	0.005533	T	0.31670	0.0804	L	0.28556	0.865	0.32493	N	0.539904	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.002	T	0.35798	-0.9774	10	0.41790	T	0.15	-11.8696	11.4425	0.50105	0.9304:0.0:0.0696:0.0	.	159;159;128;127	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	R	128;159;128;127;127;128;128;159	ENSP00000232458:Q128R;ENSP00000376457:Q159R;ENSP00000401910:Q128R;ENSP00000415876:Q127R;ENSP00000403501:Q127R;ENSP00000412028:Q128R;ENSP00000412259:Q128R;ENSP00000443160:Q159R	ENSP00000232458:Q128R	Q	+	2	0	ECT2	173957639	0.003000	0.15002	1.000000	0.80357	0.708000	0.40852	1.009000	0.29886	2.279000	0.76181	0.402000	0.26972	CAA		0.279	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		5	78	0	0	0	0.000602	0	5	78				
NLGN1	22871	broad.mit.edu	37	3	173322611	173322611	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:173322611G>T	ENST00000457714.1	+	3	652	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	NLGN1_ENST00000545397.1_Missense_Mutation_p.G75W|NLGN1_ENST00000361589.4_Missense_Mutation_p.G75W|NLGN1_ENST00000401917.3_Missense_Mutation_p.G75W	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	75					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.G75W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAAATTTTGGGGCCTGTTAT	0.458																																							uc003fio.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(223-225)GGG>TGG		neuroligin 1							101.0	108.0	105.0					3																	173322611		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322611G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.223G>T	3.37:g.173322611G>T	ENSP00000392500:p.Gly75Trp					NLGN1_uc010hww.1_Missense_Mutation_p.G75W|NLGN1_uc003fip.1_Missense_Mutation_p.G75W	p.G75W	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	646	+	Ovarian(172;0.0025)		75			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.223G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887496	0.72410	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.86522	0.5953	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.88612	0.3157	10	0.87932	D	0	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	75;75	D2X2H5;Q8N2Q7-2	.;.	W	75	ENSP00000392500:G75W;ENSP00000354541:G75W;ENSP00000410374:G75W;ENSP00000441108:G75W;ENSP00000385750:G75W	ENSP00000354541:G75W	G	+	1	0	NLGN1	174805305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.809000	0.96659	0.467000	0.42956	GGG		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		36	136	1	0	1.06647e-15	0.003755	1.7472e-15	36	136				
ABCF3	55324	broad.mit.edu	37	3	183907380	183907380	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:183907380C>A	ENST00000429586.2	+	13	1334	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	ABCF3_ENST00000292808.5_Missense_Mutation_p.D377E|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	383	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D383E(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCCCACGACCGCAACTTCT	0.587																																							uc003fmz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1147-1149)GAC>GAA		ATP-binding cassette, sub-family F (GCN20),							76.0	66.0	69.0					3																	183907380		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183907380C>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1149C>A	3.37:g.183907380C>A	ENSP00000411471:p.Asp383Glu					ABCF3_uc003fna.2_Missense_Mutation_p.D377E|ABCF3_uc003fnb.2_Missense_Mutation_p.D64E	p.D383E	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1282	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		383			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1149C>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435996	0.83885	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.95724	-3.79;-3.77	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.97888	0.9306	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.97110	1.0;0.817	D	0.98813	1.0744	10	0.72032	D	0.01	-17.3274	15.7155	0.77663	0.0:1.0:0.0:0.0	.	377;383	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	E	383;377	ENSP00000411471:D383E;ENSP00000292808:D377E	ENSP00000292808:D377E	D	+	3	2	ABCF3	185390074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.395000	0.66291	2.186000	0.69663	0.563000	0.77884	GAC		0.587	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		6	51	1	0	5.9392e-07	0.001168	7.59035e-07	6	51				
EIF4G1	1981	broad.mit.edu	37	3	184045208	184045208	+	Silent	SNP	G	G	T	rs113108196	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184045208G>T	ENST00000346169.2	+	24	3904	c.3633G>T	c.(3631-3633)acG>acT	p.T1211T	EIF4G1_ENST00000411531.1_Silent_p.T1172T|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000382330.3_Silent_p.T1218T|EIF4G1_ENST00000350481.5_Silent_p.T1047T|EIF4G1_ENST00000441154.1_Silent_p.T1048T|EIF4G1_ENST00000319274.6_Silent_p.T1211T|EIF4G1_ENST00000424196.1_Silent_p.T1218T|EIF4G1_ENST00000435046.2_Silent_p.T1015T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.T1124T|EIF4G1_ENST00000342981.4_Silent_p.T1212T|EIF4G1_ENST00000414031.1_Silent_p.T1171T|EIF4G1_ENST00000434061.2_Silent_p.T1016T|EIF4G1_ENST00000427845.1_Silent_p.T1125T|EIF4G1_ENST00000352767.3_Silent_p.T1218T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1211					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T1211T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTAGCCTCACGGAGGATCGGG	0.627																																							uc003fnp.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3631-3633)ACG>ACT		eukaryotic translation initiation factor 4							30.0	34.0	32.0					3																	184045208		2201	4296	6497	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045208G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3633G>T	3.37:g.184045208G>T						EIF4G1_uc003fnt.2_Silent_p.T922T|EIF4G1_uc003fnq.2_Silent_p.T1124T|EIF4G1_uc003fnr.2_Silent_p.T1047T|EIF4G1_uc010hxx.2_Silent_p.T1218T|EIF4G1_uc003fns.2_Silent_p.T1171T|EIF4G1_uc010hxy.2_Silent_p.T1218T|EIF4G1_uc003fnv.3_Silent_p.T1212T|EIF4G1_uc003fnu.3_Silent_p.T1211T|EIF4G1_uc003fnw.2_Silent_p.T1218T|EIF4G1_uc003fnx.2_Silent_p.T1016T|EIF4G1_uc003fny.3_Silent_p.T1015T|EIF4G1_uc003foa.2_5'Flank	p.T1211T	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		24	3831	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1211					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.3633G>T	CCDS3259.1																																																																																				0.627	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		20	60	1	0	1.33834e-09	0.007413	1.89434e-09	20	60				
EIF4G1	1981	broad.mit.edu	37	3	184046479	184046479	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184046479C>T	ENST00000346169.2	+	27	4285	c.4014C>T	c.(4012-4014)ctC>ctT	p.L1338L	EIF4G1_ENST00000411531.1_Silent_p.L1299L|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000382330.3_Silent_p.L1345L|EIF4G1_ENST00000350481.5_Silent_p.L1174L|EIF4G1_ENST00000441154.1_Silent_p.L1175L|EIF4G1_ENST00000319274.6_Silent_p.L1338L|EIF4G1_ENST00000424196.1_Silent_p.L1345L|EIF4G1_ENST00000435046.2_Silent_p.L1142L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.L1251L|EIF4G1_ENST00000342981.4_Silent_p.L1339L|EIF4G1_ENST00000414031.1_Silent_p.L1298L|EIF4G1_ENST00000434061.2_Silent_p.L1143L|EIF4G1_ENST00000427845.1_Silent_p.L1252L|EIF4G1_ENST00000352767.3_Silent_p.L1345L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L1338L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTGTGGCTCTACCTAGCGG	0.522																																							uc003fnp.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(4012-4014)CTC>CTT		eukaryotic translation initiation factor 4							137.0	136.0	136.0					3																	184046479		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046479C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4014C>T	3.37:g.184046479C>T						EIF4G1_uc003fnt.2_Silent_p.L1049L|EIF4G1_uc003fnq.2_Silent_p.L1251L|EIF4G1_uc003fnr.2_Silent_p.L1174L|EIF4G1_uc010hxx.2_Silent_p.L1345L|EIF4G1_uc003fns.2_Silent_p.L1298L|EIF4G1_uc010hxy.2_Silent_p.L1345L|EIF4G1_uc003fnv.3_Silent_p.L1339L|EIF4G1_uc003fnu.3_Silent_p.L1338L|EIF4G1_uc003fnw.2_Silent_p.L1345L|EIF4G1_uc003fnx.2_Silent_p.L1143L|EIF4G1_uc003fny.3_Silent_p.L1142L|EIF4G1_uc003foa.2_Silent_p.L10L	p.L1338L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		27	4212	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1338			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.4014C>T	CCDS3259.1																																																																																				0.522	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		46	141	0	0	0	0.009718	0	46	141				
EIF4G1	1981	broad.mit.edu	37	3	184052538	184052538	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184052538G>T	ENST00000346169.2	+	33	4913	c.4642G>T	c.(4642-4644)Gca>Tca	p.A1548S	EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1509S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1555S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A1384S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A1385S|FAM131A_ENST00000340957.5_5'Flank|FAM131A_ENST00000418281.1_5'Flank|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1548S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1555S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A1352S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1461S|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A1549S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1508S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A1353S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1462S|FAM131A_ENST00000383847.2_5'Flank|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1555S|FAM131A_ENST00000450976.1_5'Flank	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1548	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.A1548S(1)|p.A1548T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTCTTTGACGCACTGTATGA	0.602																																							uc003fnp.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(4642-4644)GCA>TCA		eukaryotic translation initiation factor 4							116.0	98.0	104.0					3																	184052538		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184052538G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4642G>T	3.37:g.184052538G>T	ENSP00000316879:p.Ala1548Ser					EIF4G1_uc003fnt.2_Missense_Mutation_p.A1259S|EIF4G1_uc003fnq.2_Missense_Mutation_p.A1461S|EIF4G1_uc003fnr.2_Missense_Mutation_p.A1384S|EIF4G1_uc010hxx.2_Missense_Mutation_p.A1555S|EIF4G1_uc003fns.2_Missense_Mutation_p.A1508S|EIF4G1_uc010hxy.2_Missense_Mutation_p.A1555S|EIF4G1_uc003fnv.3_Missense_Mutation_p.A1549S|EIF4G1_uc003fnu.3_Missense_Mutation_p.A1548S|EIF4G1_uc003fnw.2_Missense_Mutation_p.A1555S|EIF4G1_uc003fny.3_Missense_Mutation_p.A1352S|EIF4G1_uc003foa.2_Missense_Mutation_p.A220S|FAM131A_uc003fob.1_5'Flank|FAM131A_uc003foc.2_5'Flank|FAM131A_uc003fod.1_5'Flank	p.A1548S	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		33	4840	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1548			W2.|EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4642G>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	9.940	1.217326	0.22373	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	4.15	1.33	0.21861	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.131174	0.51477	D	0.000088	T	0.78413	0.4279	L	0.39397	1.21	0.09310	N	0.999995	B;B;B	0.29508	0.246;0.246;0.246	P;P;P	0.46320	0.512;0.512;0.512	T	0.63537	-0.6615	10	0.11485	T	0.65	0.2796	5.7471	0.18126	0.1751:0.0:0.6694:0.1555	.	1555;1549;1548	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	S	1548;1508;1461;1555;1384;1555;1462;1549;1548;1555;1509;1385;1353;1352	ENSP00000316879:A1548S;ENSP00000391935:A1508S;ENSP00000376320:A1461S;ENSP00000371767:A1555S;ENSP00000317600:A1384S;ENSP00000338020:A1555S;ENSP00000407682:A1462S;ENSP00000343450:A1549S;ENSP00000323737:A1548S;ENSP00000416255:A1555S;ENSP00000395974:A1509S;ENSP00000399858:A1385S;ENSP00000411826:A1353S;ENSP00000404754:A1352S	ENSP00000323737:A1548S	A	+	1	0	EIF4G1	185535232	0.014000	0.17966	0.016000	0.15963	0.038000	0.13279	1.175000	0.31944	0.075000	0.16796	-0.300000	0.09419	GCA		0.602	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		5	77	1	0	0.000602214	0.000602	0.000674971	5	77				
CHRD	8646	broad.mit.edu	37	3	184102866	184102866	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:184102866G>T	ENST00000204604.1	+	14	1904	c.1658G>T	c.(1657-1659)gGg>gTg	p.G553V	CHRD_ENST00000450923.1_Missense_Mutation_p.G553V|CHRD_ENST00000348986.3_Missense_Mutation_p.G513V|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.G183V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	553	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.G266V(1)|p.G553V(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGCAGCAGGGCACGCCTGG	0.617																																							uc003fov.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1657-1659)GGG>GTG		chordin precursor							110.0	114.0	113.0					3																	184102866		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184102866G>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1658G>T	3.37:g.184102866G>T	ENSP00000204604:p.Gly553Val					CHRD_uc003fow.2_Missense_Mutation_p.G183V|CHRD_uc003fox.2_Missense_Mutation_p.G553V|CHRD_uc003foy.2_Missense_Mutation_p.G183V|CHRD_uc010hyc.2_Missense_Mutation_p.G143V|CHRD_uc011brr.1_Missense_Mutation_p.G183V	p.G553V	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	1904	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		553			CHRD 4.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1658G>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528132	0.85706	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.38	5.38	0.77491	CHRD (3);	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90223	0.4273	10	0.87932	D	0	-20.4628	16.9955	0.86366	0.0:0.0:1.0:0.0	.	183;513;553;553	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	V	553;553;513;183;266	ENSP00000204604:G553V;ENSP00000408972:G553V;ENSP00000334036:G513V;ENSP00000442948:G183V	ENSP00000204604:G553V	G	+	2	0	CHRD	185585560	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	8.807000	0.91935	2.701000	0.92244	0.655000	0.94253	GGG		0.617	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		55	149	1	0	2.29192e-23	0.00361	4.06162e-23	55	149				
DGKG	1608	broad.mit.edu	37	3	186002472	186002472	+	Missense_Mutation	SNP	C	C	T	rs370992136		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:186002472C>T	ENST00000265022.3	-	7	1110	c.571G>A	c.(571-573)Gag>Aag	p.E191K	DGKG_ENST00000382164.4_Missense_Mutation_p.E191K|DGKG_ENST00000544847.1_Missense_Mutation_p.E191K|DGKG_ENST00000344484.4_Missense_Mutation_p.E191K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	191	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E191K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGACCGTTCTCATCTGAATCA	0.502																																							uc003fqa.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(571-573)GAG>AAG		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	133.0	119.0	124.0		571,571,571	5.1	1.0	3		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DGKG	NM_001080744.1,NM_001080745.1,NM_001346.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	191/767,191/753,191/792	186002472	1,13005	2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186002472C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.571G>A	3.37:g.186002472C>T	ENSP00000265022:p.Glu191Lys					DGKG_uc003fqb.2_Missense_Mutation_p.E191K|DGKG_uc003fqc.2_Missense_Mutation_p.E191K|DGKG_uc011brx.1_Missense_Mutation_p.E191K	p.E191K	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	7	1108	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		191			EF-hand 1.|1 (Potential).		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.571G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453675	0.84209	0.0	1.16E-4	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.96	5.08	0.68730	EF-hand-like domain (1);	0.058281	0.64402	D	0.000002	T	0.44371	0.1290	N	0.01352	-0.895	0.47621	D	0.999473	B;B;P;P	0.44946	0.142;0.142;0.846;0.761	B;B;P;B	0.45037	0.146;0.146;0.467;0.277	T	0.60301	-0.7290	10	0.56958	D	0.05	.	14.5825	0.68302	0.0:0.9276:0.0:0.0724	.	191;191;191;191	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	K	191;191;191;191;194	ENSP00000265022:E191K;ENSP00000339777:E191K;ENSP00000371599:E191K;ENSP00000440507:E191K	ENSP00000265022:E191K	E	-	1	0	DGKG	187485166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.429000	0.66495	2.832000	0.97577	0.655000	0.94253	GAG		0.502	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			30	98	0	0	0	0.002445	0	30	98				
RFC4	5984	broad.mit.edu	37	3	186515344	186515344	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:186515344T>A	ENST00000392481.2	-	4	551	c.270A>T	c.(268-270)gcA>gcT	p.A90A	RFC4_ENST00000433496.1_Silent_p.A90A|RFC4_ENST00000296273.2_Silent_p.A90A	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	90					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.A90A(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTCTAGCTGCTGCCAAAATAG	0.323																																							uc003fqz.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(268-270)GCA>GCT		replication factor C 4							95.0	102.0	100.0					3																	186515344		2203	4300	6503	SO:0001819	synonymous_variant	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186515344T>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.270A>T	3.37:g.186515344T>A						RFC4_uc011bsc.1_Silent_p.A90A|RFC4_uc011bsd.1_Silent_p.A90A	p.A90A	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	4	493	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		90					B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	c.270A>T	CCDS3283.1																																																																																				0.323	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		18	105	0	0	0	0.010504	0	18	105				
CCDC50	152137	broad.mit.edu	37	3	191075856	191075856	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:191075856A>G	ENST00000392455.3	+	3	780	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	CCDC50_ENST00000392456.3_Missense_Mutation_p.Q61R	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	61						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.Q61R(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTGGCTAAGCAGCTCCAAGAG	0.512																																							uc003fsw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CAG>CGG		Ymer protein short isoform							157.0	147.0	150.0					3																	191075856		2203	4300	6503	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191075856A>G	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.182A>G	3.37:g.191075856A>G	ENSP00000376249:p.Gln61Arg					CCDC50_uc003fsv.2_Missense_Mutation_p.Q61R	p.Q61R	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	3	772	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		61					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.182A>G	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799147	0.50208	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.42131	0.98;0.98	6.17	5.01	0.66863	.	0.102925	0.64402	D	0.000002	T	0.25791	0.0628	N	0.24115	0.695	0.36951	D	0.892874	B;B	0.33379	0.41;0.335	B;B	0.34722	0.175;0.188	T	0.13899	-1.0492	10	0.05525	T	0.97	.	11.1454	0.48428	0.862:0.0:0.0:0.138	.	61;61	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	R	61	ENSP00000376249:Q61R;ENSP00000376250:Q61R	ENSP00000376249:Q61R	Q	+	2	0	CCDC50	192558550	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.978000	0.56881	1.131000	0.42111	0.533000	0.62120	CAG		0.512	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		22	158	0	0	0	0.001882	0	22	158				
ATP13A5	344905	broad.mit.edu	37	3	193029655	193029655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:193029655C>A	ENST00000342358.4	-	20	2512	c.2395G>T	c.(2395-2397)Ggg>Tgg	p.G799W	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	799						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G799W(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATGATTTCCCACTCATTGCA	0.403																																							uc011bsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(2395-2397)GGG>TGG		ATPase type 13A5							138.0	126.0	130.0					3																	193029655		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193029655C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2395G>T	3.37:g.193029655C>A	ENSP00000341942:p.Gly799Trp						p.G799W	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	20	2395	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		799					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2395G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543278	0.86022	.	.	ENSG00000187527	ENST00000342358	D	0.89681	-2.55	5.81	5.81	0.92471	HAD-like domain (2);	0.073236	0.56097	D	0.000026	D	0.96731	0.8933	H	0.97265	3.97	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97626	1.0139	10	0.66056	D	0.02	-17.2145	17.5743	0.87944	0.0:1.0:0.0:0.0	.	799	Q4VNC0	AT135_HUMAN	W	799	ENSP00000341942:G799W	ENSP00000341942:G799W	G	-	1	0	ATP13A5	194512349	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.631000	0.74277	2.755000	0.94549	0.650000	0.86243	GGG		0.403	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		18	65	1	0	3.52763e-06	0.00499	4.3565e-06	18	65				
LRRC15	131578	broad.mit.edu	37	3	194081494	194081494	+	Silent	SNP	C	C	A	rs367833610		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:194081494C>A	ENST00000347624.3	-	2	364	c.279G>T	c.(277-279)acG>acT	p.T93T	LRRC15_ENST00000439944.2_Silent_p.T99T|LRRC15_ENST00000428839.1_Silent_p.T99T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	93					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.T93T(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCCCCAGGCGTGATGCGCG	0.587																																							uc003ftu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(277-279)ACG>ACT		leucine rich repeat containing 15 isoform b							86.0	74.0	78.0					3																	194081494		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194081494C>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.279G>T	3.37:g.194081494C>A						LRRC15_uc003ftt.2_Silent_p.T99T	p.T93T	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	365	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		93			LRR 2.|Extracellular (Potential).		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.279G>T	CCDS3306.1																																																																																				0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			13	43	1	0	1.05317e-09	0.00245	1.50035e-09	13	43				
ZFYVE28	57732	broad.mit.edu	37	4	2306871	2306871	+	Missense_Mutation	SNP	C	C	T	rs73203327		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:2306871C>T	ENST00000290974.2	-	8	1535	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R369H|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R329H|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	399					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R399H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GAAGAACACGCGCTCCTCCTC	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		17340	0.0		0.001	False		,,,				2504	0.0						uc003gex.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1195-1197)CGC>CAC		zinc finger, FYVE domain containing 28							47.0	42.0	44.0					4																	2306871		2202	4296	6498	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306871C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1196G>A	4.37:g.2306871C>T	ENSP00000290974:p.Arg399His					ZFYVE28_uc011bvk.1_Missense_Mutation_p.R329H|ZFYVE28_uc011bvl.1_Missense_Mutation_p.R369H|ZFYVE28_uc003gew.1_Missense_Mutation_p.R285H	p.R399H	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1515	-			399					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1196G>A	CCDS33942.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.32	3.360031	0.61403	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.68903	-0.26;-0.36;-0.27	5.18	5.18	0.71444	.	0.096478	0.64402	D	0.000002	T	0.80854	0.4703	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.981	T	0.82750	-0.0303	10	0.72032	D	0.01	.	17.7401	0.88404	0.0:1.0:0.0:0.0	.	369;399	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	H	399;369;329	ENSP00000290974:R399H;ENSP00000425706:R369H;ENSP00000426299:R329H	ENSP00000290974:R399H	R	-	2	0	ZFYVE28	2276669	0.997000	0.39634	0.815000	0.32552	0.125000	0.20455	5.332000	0.65911	2.438000	0.82558	0.405000	0.27470	CGC		0.697	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		17	36	0	0	0	0.004007	0	17	36				
HTT	3064	broad.mit.edu	37	4	3201610	3201610	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:3201610G>A	ENST00000355072.5	+	41	5665	c.5520G>A	c.(5518-5520)ctG>ctA	p.L1840L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1840					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.L1840L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCAGATACTGCTGCTTGTCA	0.617																																							uc011bvq.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(5524-5526)CTG>CTA		huntingtin							45.0	50.0	48.0					4																	3201610		2042	4210	6252	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3201610G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5520G>A	4.37:g.3201610G>A							p.L1842L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	42	5671	+		all_epithelial(65;0.18)	1840					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.5526G>A	CCDS43206.1																																																																																				0.617	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		12	30	0	0	0	0.001368	0	12	30				
SLC2A9	56606	broad.mit.edu	37	4	10027569	10027569	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:10027569G>T	ENST00000506583.1	-	3	239	c.22C>A	c.(22-24)Cga>Aga	p.R8R	SLC2A9_ENST00000309065.3_Silent_p.R8R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.R8R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCTTCTCCTCGGTCCTTTTTA	0.393																																							uc003gmd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(22-24)CGA>AGA		solute carrier family 2, member 9 protein							148.0	151.0	150.0					4																	10027569		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10027569G>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.22C>A	4.37:g.10027569G>T							p.R8R	NM_001001290	NP_001001290	Q9NRM0	GTR9_HUMAN			2	181	-			Error:Variant_position_missing_in_Q9NRM0_after_alignment					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000506583.1	37	c.22C>A	CCDS3406.1																																																																																				0.393	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2			18	42	1	0	1.01871e-10	0.008871	1.49983e-10	18	42				
RAB28	9364	broad.mit.edu	37	4	13370268	13370268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:13370268C>A	ENST00000330852.5	-	7	794	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L	RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	194					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V194L(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TCTGCCTTCACCACCCTCTGT	0.368																																							uc003gmu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(580-582)GTG>TTG		RAB28, member RAS oncogene family isoform 1							125.0	113.0	117.0					4																	13370268		2203	4300	6503	SO:0001583	missense	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13370268C>A	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.580G>T	4.37:g.13370268C>A	ENSP00000328551:p.Val194Leu					RAB28_uc003gmt.2_3'UTR|RAB28_uc011bwz.1_3'UTR|RAB28_uc003gmv.2_RNA	p.V194L	NM_001017979	NP_001017979	P51157	RAB28_HUMAN			7	795	-			194					G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	c.580G>T	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536241	0.64972	.	.	ENSG00000157869	ENST00000330852	T	0.79247	-1.25	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	N	0.20986	0.625	0.80722	D	1	B	0.24186	0.099	B	0.32289	0.143	T	0.64015	-0.6506	10	0.26408	T	0.33	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	194	P51157	RAB28_HUMAN	L	194	ENSP00000328551:V194L	ENSP00000328551:V194L	V	-	1	0	RAB28	12979366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.927000	0.75840	2.736000	0.93811	0.655000	0.94253	GTG		0.368	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		7	26	1	0	2.0095e-06	0.001984	2.51391e-06	7	26				
BOD1L1	259282	broad.mit.edu	37	4	13610219	13610219	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:13610219G>A	ENST00000040738.5	-	8	1812	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	559	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V559V(1)									GTTCTTTAAGGACTTCTTTAA	0.338																																							uc003gmz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(1675-1677)GTC>GTT		biorientation of chromosomes in cell division							53.0	51.0	51.0					4																	13610219		2202	4295	6497	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13610219G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1677C>T	4.37:g.13610219G>A						BOD1L_uc010idr.1_5'UTR	p.V559V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			8	1794	-			559			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.1677C>T	CCDS3411.2																																																																																				0.338	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	12	0	0	0	0.004672	0	3	12				
NCAPG	64151	broad.mit.edu	37	4	17819644	17819644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:17819644G>T	ENST00000251496.2	+	7	1227	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	351					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D351Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATCAAAAGGAGATGAAGGTGA	0.323																																							uc003gpp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1051-1053)GAT>TAT		chromosome condensation protein G							124.0	131.0	129.0					4																	17819644		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17819644G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1051G>T	4.37:g.17819644G>T	ENSP00000251496:p.Asp351Tyr					NCAPG_uc011bxj.1_5'UTR	p.D351Y	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	7	1227	+			351					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1051G>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733705	0.69189	.	.	ENSG00000109805	ENST00000251496	T	0.36157	1.27	4.95	4.95	0.65309	Armadillo-type fold (1);	0.182552	0.64402	D	0.000019	T	0.48370	0.1496	L	0.58925	1.835	0.47374	D	0.9994	P	0.46656	0.882	P	0.52309	0.695	T	0.50491	-0.8822	10	0.72032	D	0.01	-11.8374	14.9866	0.71353	0.0:0.1431:0.8569:0.0	.	351	Q9BPX3	CND3_HUMAN	Y	351	ENSP00000251496:D351Y	ENSP00000251496:D351Y	D	+	1	0	NCAPG	17428742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.045000	0.64220	2.463000	0.83235	0.655000	0.94253	GAT		0.323	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		40	92	1	0	2.19962e-31	0.00874	4.10099e-31	40	92				
SLIT2	9353	broad.mit.edu	37	4	20543209	20543209	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:20543209G>A	ENST00000504154.1	+	20	2362	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	SLIT2_ENST00000503823.1_Missense_Mutation_p.D696N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D708N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D700N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	704	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.D704N(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCCATCCAGGATGTGGCCAT	0.443																																							uc003gpr.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2110-2112)GAT>AAT		slit homolog 2 precursor							103.0	97.0	99.0					4																	20543209		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20543209G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2110G>A	4.37:g.20543209G>A	ENSP00000422591:p.Asp704Asn					SLIT2_uc003gps.1_Missense_Mutation_p.D696N	p.D704N	NM_004787	NP_004778	O94813	SLIT2_HUMAN			20	2314	+			704			LRRCT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2110G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156466	0.94686	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80994	-1.44;-1.42;-1.36;-1.42	5.91	5.91	0.95273	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89099	0.3488	10	0.46703	T	0.11	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	696;704	O94813-3;O94813	.;SLIT2_HUMAN	N	696;704;708;700;700	ENSP00000427548:D696N;ENSP00000422591:D704N;ENSP00000273739:D708N;ENSP00000422261:D700N	ENSP00000273739:D708N	D	+	1	0	SLIT2	20152307	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.471000	0.97696	2.794000	0.96219	0.655000	0.94253	GAT		0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			7	48	0	0	0	0.001984	0	7	48				
CCDC149	91050	broad.mit.edu	37	4	24838915	24838915	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:24838915C>A	ENST00000389609.4	-	7	740	c.597G>T	c.(595-597)ctG>ctT	p.L199L	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Silent_p.L199L|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	144								p.L199L(1)|p.L144L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GGATATGGTTCAGCTCCTGGT	0.572																																							uc011bxr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(595-597)CTG>CTT		coiled-coil domain containing 149 isoform 1							192.0	132.0	153.0					4																	24838915		2203	4300	6503	SO:0001819	synonymous_variant	91050							g.chr4:24838915C>A		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.597G>T	4.37:g.24838915C>A						CCDC149_uc003grc.2_Silent_p.L199L|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Intron|CCDC149_uc003gre.2_Silent_p.L144L|CCDC149_uc011bxq.1_Silent_p.L72L	p.L199L	NM_173463	NP_775734	B4DZG3	B4DZG3_HUMAN			7	741	-		Breast(46;0.173)	199					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	c.597G>T	CCDS33967.2																																																																																				0.572	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		10	32	1	0	7.48243e-07	0.006214	9.50738e-07	10	32				
SEL1L3	23231	broad.mit.edu	37	4	25780789	25780789	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:25780789C>A	ENST00000399878.3	-	16	2616	c.2494G>T	c.(2494-2496)Ggt>Tgt	p.G832C	SEL1L3_ENST00000502949.1_Missense_Mutation_p.G679C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G797C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	832						integral component of membrane (GO:0016021)		p.G679C(1)|p.G832C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATGTGTCCACCTTGCGCAGCC	0.473																																							uc003gru.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2494-2496)GGT>TGT		sel-1 suppressor of lin-12-like 3							149.0	137.0	140.0					4																	25780789		1959	4152	6111	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25780789C>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2494G>T	4.37:g.25780789C>A	ENSP00000382767:p.Gly832Cys					SEL1L3_uc003grv.2_Missense_Mutation_p.G239C	p.G832C	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			16	2646	-			832			Sel1-like 6.		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2494G>T	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620902	0.66787	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000514321	T;T;T;T	0.51325	0.72;0.72;0.72;0.71	5.22	5.22	0.72569	Tetratricopeptide-like helical (1);	0.278455	0.33980	N	0.004369	T	0.61009	0.2313	L	0.36672	1.1	0.50313	D	0.99986	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.61486	-0.7053	10	0.49607	T	0.09	-16.3064	18.7819	0.91937	0.0:1.0:0.0:0.0	.	239;832	B4DTH5;Q68CR1	.;SE1L3_HUMAN	C	832;797;679;13	ENSP00000382767:G832C;ENSP00000264868:G797C;ENSP00000425438:G679C;ENSP00000424564:G13C	ENSP00000264868:G797C	G	-	1	0	SEL1L3	25389887	1.000000	0.71417	0.972000	0.41901	0.861000	0.49209	2.544000	0.45761	2.429000	0.82318	0.561000	0.74099	GGT		0.473	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		14	95	1	0	1.3612e-06	0.003163	1.72248e-06	14	95				
CCKAR	886	broad.mit.edu	37	4	26483736	26483736	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:26483736G>T	ENST00000295589.3	-	5	1005	c.811C>A	c.(811-813)Ctg>Atg	p.L271M		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	271					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.L271M(2)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTTTTGCAGGTAACACCCA	0.602																																							uc003gse.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|pancreas(1)	4						c.(811-813)CTG>ATG		cholecystokinin A receptor	Ceruletide(DB00403)						73.0	77.0	76.0					4																	26483736		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483736G>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.811C>A	4.37:g.26483736G>T	ENSP00000295589:p.Leu271Met						p.L271M	NM_000730	NP_000721	P32238	CCKAR_HUMAN			5	964	-		Breast(46;0.0503)	271			Cytoplasmic (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.811C>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088900	0.36855	.	.	ENSG00000163394	ENST00000295589	T	0.54071	0.59	5.22	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.070970	0.64402	D	0.000019	T	0.64114	0.2569	L	0.60455	1.87	0.41573	D	0.988696	D	0.71674	0.998	D	0.75020	0.985	T	0.60005	-0.7347	10	0.33141	T	0.24	.	10.2393	0.43301	0.0743:0.1371:0.7887:0.0	.	271	P32238	CCKAR_HUMAN	M	271	ENSP00000295589:L271M	ENSP00000295589:L271M	L	-	1	2	CCKAR	26092834	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	1.189000	0.32114	0.566000	0.29273	0.462000	0.41574	CTG		0.602	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			41	62	1	0	3.09479e-21	0.006999	5.3792e-21	41	62				
TLR10	81793	broad.mit.edu	37	4	38774993	38774993	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:38774993G>T	ENST00000308973.4	-	4	2824	c.2219C>A	c.(2218-2220)aCc>aAc	p.T740N	TLR10_ENST00000361424.2_Missense_Mutation_p.T740N|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.T740N|TLR10_ENST00000506111.1_Missense_Mutation_p.T740N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	740	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.T740N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATGATACCTGGTGGGAATGCA	0.403																																							uc003gti.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(2218-2220)ACC>AAC		toll-like receptor 10 precursor							86.0	88.0	87.0					4																	38774993		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38774993G>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2219C>A	4.37:g.38774993G>T	ENSP00000308925:p.Thr740Asn					TLR10_uc003gtj.2_Missense_Mutation_p.T740N|TLR10_uc003gtk.2_Missense_Mutation_p.T740N	p.T740N	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	2598	-			740			TIR.|Cytoplasmic (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.2219C>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	1.158	-0.644797	0.03531	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.56	3.76	0.43208	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.254138	0.27088	N	0.020996	T	0.78207	0.4247	L	0.31926	0.97	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.60475	-0.7256	10	0.16896	T	0.51	.	10.6091	0.45410	0.0:0.1285:0.6052:0.2663	.	740	Q9BXR5	TLR10_HUMAN	N	740	ENSP00000308925:T740N;ENSP00000421483:T740N;ENSP00000354459:T740N;ENSP00000424923:T740N	ENSP00000308925:T740N	T	-	2	0	TLR10	38451388	0.000000	0.05858	0.048000	0.18961	0.045000	0.14185	-0.060000	0.11712	1.335000	0.45486	0.650000	0.86243	ACC		0.403	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			57	80	1	0	3.07002e-29	0.00361	5.65529e-29	57	80				
GABRB1	2560	broad.mit.edu	37	4	47405711	47405711	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:47405711C>A	ENST00000295454.3	+	7	1110	c.818C>A	c.(817-819)gCa>gAa	p.A273E	GABRB1_ENST00000538619.1_Missense_Mutation_p.A203E	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	273					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.A273E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATGCATCTGCAGCCAGAGTC	0.393																																							uc003gxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(817-819)GCA>GAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						114.0	108.0	110.0					4																	47405711		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47405711C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.818C>A	4.37:g.47405711C>A	ENSP00000295454:p.Ala273Glu					GABRB1_uc011bze.1_Missense_Mutation_p.A203E	p.A273E	NM_000812	NP_000803	P18505	GBRB1_HUMAN			7	1192	+			273			Helical; (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.818C>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959246	0.92726	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86694	-2.16;-2.16	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93520	0.7932	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.93666	0.6986	10	0.87932	D	0	-16.1598	19.428	0.94751	0.0:1.0:0.0:0.0	.	203;273	F5GXV5;P18505	.;GBRB1_HUMAN	E	273;203	ENSP00000295454:A273E;ENSP00000440330:A203E	ENSP00000295454:A273E	A	+	2	0	GABRB1	47100468	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	GCA		0.393	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			7	59	1	0	2.0095e-06	0.001984	2.51391e-06	7	59				
CORIN	10699	broad.mit.edu	37	4	47663854	47663854	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:47663854T>C	ENST00000273857.4	-	12	1608	c.1609A>G	c.(1609-1611)Aaa>Gaa	p.K537E	CORIN_ENST00000508498.1_Missense_Mutation_p.K398E|CORIN_ENST00000502252.1_Missense_Mutation_p.K470E|CORIN_ENST00000505909.1_Missense_Mutation_p.K500E|CORIN_ENST00000504584.1_Missense_Mutation_p.K500E	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	537	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.K537E(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGCGTTCTTTAGAGTGTTCA	0.403																																							uc003gxm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1609-1611)AAA>GAA		corin							67.0	62.0	64.0					4																	47663854		2203	4299	6502	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47663854T>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1609A>G	4.37:g.47663854T>C	ENSP00000273857:p.Lys537Glu					CORIN_uc011bzf.1_Missense_Mutation_p.K398E|CORIN_uc011bzg.1_Missense_Mutation_p.K470E|CORIN_uc011bzh.1_Missense_Mutation_p.K500E|CORIN_uc011bzi.1_Missense_Mutation_p.K500E	p.K537E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			12	1702	-			537			Extracellular (Potential).|FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1609A>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586447	0.46110	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.9	4.71	0.59529	Frizzled domain (5);	0.050358	0.85682	D	0.000000	D	0.84361	0.5455	M	0.64080	1.96	0.42393	D	0.992532	D;D;D;D	0.76494	0.998;0.999;0.992;0.997	D;D;D;D	0.76575	0.965;0.988;0.913;0.984	T	0.81726	-0.0801	10	0.23302	T	0.38	.	12.6276	0.56638	0.1241:0.0:0.0:0.8759	.	500;500;470;537	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	E	537;398;470;500;500	ENSP00000273857:K537E;ENSP00000425597:K398E;ENSP00000424212:K470E;ENSP00000425401:K500E;ENSP00000423216:K500E	ENSP00000273857:K537E	K	-	1	0	CORIN	47358611	1.000000	0.71417	0.968000	0.41197	0.004000	0.04260	5.549000	0.67261	1.061000	0.40601	-0.274000	0.10170	AAA		0.403	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			5	36	0	0	0	0.001168	0	5	36				
USP46	64854	broad.mit.edu	37	4	53494232	53494232	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:53494232C>A	ENST00000441222.3	-	3	400	c.216G>T	c.(214-216)aaG>aaT	p.K72N	USP46_ENST00000451218.2_Missense_Mutation_p.K45N|USP46_ENST00000508499.1_Missense_Mutation_p.K65N	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	72	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K72N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AGTTTTCCTTCTTCTTTTGCT	0.493																																							uc003gzn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)AAG>AAT		ubiquitin specific peptidase 46 isoform 1							103.0	98.0	99.0					4																	53494232		2007	4168	6175	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53494232C>A	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.216G>T	4.37:g.53494232C>A	ENSP00000407818:p.Lys72Asn					USP46_uc003gzm.3_Missense_Mutation_p.K65N|USP46_uc011bzr.1_Missense_Mutation_p.K49N|USP46_uc011bzs.1_5'UTR	p.K72N	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		3	401	-			72					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.216G>T	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844697	0.51164	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32515	1.45;1.45;1.45	5.25	4.4	0.53042	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000004	T	0.27798	0.0684	L	0.41906	1.305	0.80722	D	1	B;B;B	0.17667	0.019;0.023;0.001	B;B;B	0.29524	0.031;0.103;0.021	T	0.04900	-1.0919	10	0.16896	T	0.51	-22.4435	14.5711	0.68210	0.1473:0.8527:0.0:0.0	.	60;72;65	P62068-4;P62068;P62068-3	.;UBP46_HUMAN;.	N	72;45;65	ENSP00000407818:K72N;ENSP00000390102:K45N;ENSP00000423244:K65N	ENSP00000407818:K72N	K	-	3	2	USP46	53188989	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.865000	0.69583	1.332000	0.45431	-0.181000	0.13052	AAG		0.493	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		16	51	1	0	6.31663e-08	0.003163	8.3931e-08	16	51				
EXOC1	55763	broad.mit.edu	37	4	56726659	56726659	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:56726659A>G	ENST00000381295.2	+	3	555	c.207A>G	c.(205-207)gcA>gcG	p.A69A	EXOC1_ENST00000349598.6_Silent_p.A69A|EXOC1_ENST00000346134.7_Silent_p.A69A	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	69					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A69A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GGCAGATTGCATGGGCCCTTC	0.428																																							uc003hbe.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(205-207)GCA>GCG		exocyst complex component 1 isoform 1							144.0	140.0	141.0					4																	56726659		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56726659A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.207A>G	4.37:g.56726659A>G						EXOC1_uc003hbf.1_Silent_p.A69A|EXOC1_uc003hbg.1_Silent_p.A69A	p.A69A	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			3	365	+	Glioma(25;0.08)|all_neural(26;0.101)		69					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.207A>G	CCDS3502.1																																																																																				0.428	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		18	77	0	0	0	0.010504	0	18	77				
KIAA1211	57482	broad.mit.edu	37	4	57193889	57193889	+	Silent	SNP	C	C	T	rs368775360		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:57193889C>T	ENST00000504228.1	+	9	3726	c.3621C>T	c.(3619-3621)ccC>ccT	p.P1207P	KIAA1211_ENST00000541073.1_Silent_p.P1200P|KIAA1211_ENST00000264229.6_Silent_p.P1207P			Q6ZU35	K1211_HUMAN	KIAA1211	1207								p.P1207P(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATGCTGCCCCCGTGTCAACAG	0.527																																							uc003hbk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(3619-3621)CCC>CCT		hypothetical protein LOC57482		C		0,3718		0,0,1859	108.0	113.0	111.0		3621	-11.4	0.1	4		111	1,8167		0,1,4083	no	coding-synonymous	KIAA1211	NM_020722.1		0,1,5942	TT,TC,CC		0.0122,0.0,0.0084		1207/1234	57193889	1,11885	1859	4084	5943	SO:0001819	synonymous_variant	57482							g.chr4:57193889C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3621C>T	4.37:g.57193889C>T						KIAA1211_uc010iha.2_Silent_p.P1200P	p.P1207P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			11	4012	+	Glioma(25;0.08)|all_neural(26;0.101)		1207					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.3621C>T	CCDS43230.1																																																																																				0.527	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		29	131	0	0	0	0.003755	0	29	131				
LPHN3	23284	broad.mit.edu	37	4	62679563	62679563	+	Missense_Mutation	SNP	C	C	T	rs369987771		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:62679563C>T	ENST00000514591.1	+	8	1561	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L	LPHN3_ENST00000507625.1_Missense_Mutation_p.P479L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P479L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P479L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P479L|LPHN3_ENST00000512091.2_Missense_Mutation_p.P411L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P411L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P479L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P411L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P479L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P479L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P411L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P411L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P411L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P411L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	411					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.P411L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tacatttctccgccaattcac	0.373																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1231-1233)CCG>CTG		latrophilin 3 precursor		C	LEU/PRO	1,3861		0,1,1930	127.0	118.0	121.0		1232	3.7	1.0	4		121	0,8278		0,0,4139	no	missense	LPHN3	NM_015236.4	98	0,1,6069	TT,TC,CC		0.0,0.0259,0.0082	benign	411/1470	62679563	1,12139	1931	4139	6070	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679563C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1232C>T	4.37:g.62679563C>T	ENSP00000422533:p.Pro411Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.P411L|LPHN3_uc003hcs.1_Missense_Mutation_p.P240L	p.P411L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			6	1405	+			411			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1232C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144315	0.37825	2.59E-4	0.0	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.44;-0.42;-0.47;-0.48;-0.45;-0.42;-0.48;-0.48;-0.46;-0.44;-0.44;-0.43;-0.46;-0.47;-0.44	3.67	3.67	0.42095	.	0.125811	0.53938	D	0.000043	T	0.48205	0.1487	N	0.19112	0.55	0.47547	D	0.999453	B;P	0.42248	0.113;0.774	B;B	0.28553	0.028;0.091	T	0.58509	-0.7624	10	0.59425	D	0.04	.	11.1945	0.48704	0.0:1.0:0.0:0.0	.	411;411	E9PE04;Q9HAR2-2	.;.	L	411;411;479;479;411;411;411;411;411;479;479;479;411;411;411;479;479;411	ENSP00000423388:P411L;ENSP00000422533:P411L;ENSP00000423787:P479L;ENSP00000425033:P479L;ENSP00000424120:P411L;ENSP00000439831:P411L;ENSP00000421476:P479L;ENSP00000424030:P479L;ENSP00000421372:P479L;ENSP00000425201:P411L;ENSP00000423434:P411L;ENSP00000421627:P411L;ENSP00000420931:P479L;ENSP00000425884:P479L;ENSP00000424258:P411L	ENSP00000280009:P411L	P	+	2	0	LPHN3	62362158	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.846000	0.48262	2.343000	0.79666	0.563000	0.77884	CCG		0.373	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	42	0	0	0	0.001168	0	5	42				
UGT2B28	54490	broad.mit.edu	37	4	70156342	70156342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70156342G>T	ENST00000335568.5	+	5	1125	c.1123G>T	c.(1123-1125)Ggt>Tgt	p.G375C	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	375					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.G375C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TATAACTCATGGTGGAGCCAA	0.398																																							uc003hej.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1123-1125)GGT>TGT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						67.0	71.0	70.0					4																	70156342		2025	4214	6239	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156342G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1123G>T	4.37:g.70156342G>T	ENSP00000334276:p.Gly375Cys					UGT2B28_uc010ihr.2_Intron	p.G375C	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1125	+			375					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1123G>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.96	1.498452	0.26861	.	.	ENSG00000135226	ENST00000335568	T	0.65732	-0.17	1.85	1.85	0.25348	.	0.000000	0.64402	U	0.000001	T	0.73048	0.3537	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	T	0.74103	-0.3773	10	0.54805	T	0.06	.	9.3109	0.37903	0.0:0.0:1.0:0.0	.	375	Q9BY64	UDB28_HUMAN	C	375	ENSP00000334276:G375C	ENSP00000334276:G375C	G	+	1	0	UGT2B28	70190931	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	5.450000	0.66626	1.023000	0.39654	0.184000	0.17185	GGT		0.398	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		42	147	1	0	1.23713e-20	0.00361	2.13825e-20	42	147				
UGT2B4	7363	broad.mit.edu	37	4	70346427	70346427	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70346427C>A	ENST00000305107.6	-	6	1558	c.1512G>T	c.(1510-1512)gtG>gtT	p.V504V	UGT2B4_ENST00000506580.1_5'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Silent_p.V368V|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	504					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V504V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TGATGAATATCACAGTTGCCA	0.488																																							uc003hek.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1510-1512)GTG>GTT		UDP glucuronosyltransferase 2B4 precursor							146.0	141.0	143.0					4																	70346427		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346427C>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1512G>T	4.37:g.70346427C>A						UGT2B4_uc011cap.1_Silent_p.V368V|UGT2B4_uc003hel.3_3'UTR	p.V504V	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1559	-			504			Helical; (Potential).		A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1512G>T	CCDS43234.1																																																																																				0.488	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		36	117	1	0	1.07637e-12	0.004878	1.6543e-12	36	117				
UGT2B4	7363	broad.mit.edu	37	4	70346556	70346556	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70346556G>T	ENST00000305107.6	-	6	1429	c.1383C>A	c.(1381-1383)gtC>gtA	p.V461V	UGT2B4_ENST00000506580.1_5'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Silent_p.V325V|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	461					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V461V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAATCCAGAAGACTGCTCGAT	0.438																																							uc003hek.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1381-1383)GTC>GTA		UDP glucuronosyltransferase 2B4 precursor							121.0	120.0	120.0					4																	70346556		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346556G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1383C>A	4.37:g.70346556G>T						UGT2B4_uc011cap.1_Silent_p.V325V|UGT2B4_uc003hel.3_3'UTR	p.V461V	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1430	-			461					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1383C>A	CCDS43234.1																																																																																				0.438	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		34	137	1	0	3.03874e-20	0.003271	5.23452e-20	34	137				
UGT2A1	10941	broad.mit.edu	37	4	70465104	70465104	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:70465104T>C	ENST00000503640.1	-	2	779	c.724A>G	c.(724-726)Act>Gct	p.T242A	UGT2A1_ENST00000514019.1_Missense_Mutation_p.T452A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.T242A|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T286A|UGT2A2_ENST00000457664.2_Missense_Mutation_p.T251A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	242					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.T251A(1)|p.T242A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATAACGTAGTGGGTCTTCCT	0.368																																							uc003hem.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(724-726)ACT>GCT		UDP glucuronosyltransferase 2 family,							68.0	66.0	67.0					4																	70465104		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70465104T>C	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.724A>G	4.37:g.70465104T>C	ENSP00000424478:p.Thr242Ala					UGT2A1_uc011caq.1_Missense_Mutation_p.T452A|UGT2A1_uc010ihu.2_Missense_Mutation_p.T286A|UGT2A1_uc010iht.2_Missense_Mutation_p.T242A|UGT2A1_uc010ihs.2_Missense_Mutation_p.T243A	p.T242A	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			2	787	-			242			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.724A>G	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.969411	0.34754	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.61510	0.21;0.21;0.1;0.1;1.52	4.63	3.44	0.39384	.	0.189024	0.45361	D	0.000366	T	0.69314	0.3097	M	0.70903	2.155	.	.	.	P;P;D;D;D	0.71674	0.951;0.938;0.998;0.996;0.987	P;P;P;D;D	0.76071	0.675;0.831;0.905;0.987;0.924	T	0.75422	-0.3323	9	0.56958	D	0.05	.	6.124	0.20170	0.0:0.1988:0.0:0.8012	.	452;452;242;251;242	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	A	251;242;242;452;286	ENSP00000387888:T251A;ENSP00000424478:T242A;ENSP00000421432:T242A;ENSP00000425497:T452A;ENSP00000286604:T286A	ENSP00000286604:T286A	T	-	1	0	UGT2A1	70499693	1.000000	0.71417	0.946000	0.38457	0.115000	0.19883	3.549000	0.53681	0.901000	0.36495	0.455000	0.32223	ACT		0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		13	60	0	0	0	0.001368	0	13	60				
ODAM	54959	broad.mit.edu	37	4	71066320	71066320	+	Splice_Site	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:71066320T>C	ENST00000396094.2	+	6	576		c.e6+2			NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated						biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.?(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GAGGAGCAGGTACTGCAAATG	0.358																																							uc003hfc.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.e6+2		odontogenic ameloblast-associated protein							91.0	79.0	83.0					4																	71066320		2203	4300	6503	SO:0001630	splice_region_variant	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71066320T>C	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.528+2T>C	4.37:g.71066320T>C							p.Q176_splice	NM_017855	NP_060325	A1E959	ODAM_HUMAN			6	545	+								Q8WWE5|Q9NWZ9	Splice_Site	SNP	ENST00000396094.2	37	c.528_splice	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	T	10.03	1.238122	0.22711	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6751	0.51425	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODAM	71100909	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	3.395000	0.52558	2.254000	0.74563	0.533000	0.62120	.		0.358	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855	Intron	13	30	0	0	0	0.001368	0	13	30				
NPFFR2	10886	broad.mit.edu	37	4	72897709	72897709	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:72897709C>A	ENST00000308744.6	+	1	189	c.91C>A	c.(91-93)Cgc>Agc	p.R31S	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R31S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	31					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.R31S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGGGAGGGAGCGCAGAGCACT	0.657																																							uc003hgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(91-93)CGC>AGC		neuropeptide FF receptor 2 isoform 1							30.0	36.0	34.0					4																	72897709		2200	4299	6499	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897709C>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.91C>A	4.37:g.72897709C>A	ENSP00000307822:p.Arg31Ser					NPFFR2_uc010iig.1_5'UTR	p.R31S	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	189	+			31			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.91C>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658079	0.29425	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.75477	-0.94	3.47	-1.8	0.07907	.	7.622610	0.00424	N	0.000071	T	0.49167	0.1541	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.23940	-1.0174	10	0.19590	T	0.45	.	0.544	0.00650	0.1769:0.3064:0.1736:0.3431	.	31	Q9Y5X5	NPFF2_HUMAN	S	31	ENSP00000307822:R31S	ENSP00000307822:R31S	R	+	1	0	NPFFR2	73116573	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.590000	0.05760	-0.445000	0.07159	-0.344000	0.07964	CGC		0.657	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		14	34	1	0	1.15088e-07	0.004007	1.5071e-07	14	34				
NPFFR2	10886	broad.mit.edu	37	4	72994430	72994430	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:72994430A>T	ENST00000308744.6	+	2	526	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q41L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q44L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	143					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.Q143L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TATCTTCACCAGCCTCAAGTG	0.368																																							uc003hgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(427-429)CAG>CTG		neuropeptide FF receptor 2 isoform 1							193.0	168.0	176.0					4																	72994430		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994430A>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.428A>T	4.37:g.72994430A>T	ENSP00000307822:p.Gln143Leu					NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.Q44L|NPFFR2_uc003hgh.2_Missense_Mutation_p.Q41L	p.Q143L	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	526	+			143			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.428A>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821710	0.50633	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.34667	1.35;1.35;1.35	5.9	3.49	0.39957	.	1.059330	0.07401	N	0.890781	T	0.30198	0.0757	L	0.34521	1.04	0.49389	D	0.999788	P;P	0.40794	0.552;0.729	B;B	0.40782	0.34;0.25	T	0.01212	-1.1417	10	0.26408	T	0.33	.	8.2578	0.31766	0.7845:0.0:0.2155:0.0	.	44;143	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	143;44;41	ENSP00000307822:Q143L;ENSP00000379321:Q44L;ENSP00000351599:Q41L	ENSP00000307822:Q143L	Q	+	2	0	NPFFR2	73213294	0.998000	0.40836	1.000000	0.80357	0.910000	0.53928	2.876000	0.48498	0.499000	0.27970	0.528000	0.53228	CAG		0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		15	80	0	0	0	0.00245	0	15	80				
ANKRD17	26057	broad.mit.edu	37	4	73956695	73956695	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:73956695G>A	ENST00000358602.4	-	29	6766	c.6650C>T	c.(6649-6651)tCt>tTt	p.S2217F	ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2104F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S1966F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2217					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S2217F(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGCTGGACAGAAGAGGGAAC	0.453																																							uc003hgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(6649-6651)TCT>TTT		ankyrin repeat domain protein 17 isoform a							179.0	185.0	183.0					4																	73956695		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73956695G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6650C>T	4.37:g.73956695G>A	ENSP00000351416:p.Ser2217Phe					ANKRD17_uc003hgo.2_Missense_Mutation_p.S2104F|ANKRD17_uc003hgq.2_Missense_Mutation_p.S1966F|ANKRD17_uc003hgr.2_Missense_Mutation_p.S2216F	p.S2217F	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	6767	-	Breast(15;0.000295)		2217					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.6650C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289092	0.40494	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.71817	-0.6;-0.58;-0.53	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000014	T	0.72391	0.3454	L	0.43152	1.355	0.42313	D	0.992228	P;P;P;P	0.50528	0.936;0.936;0.894;0.826	P;P;B;B	0.48141	0.568;0.568;0.365;0.188	T	0.76310	-0.3006	10	0.87932	D	0	.	19.3615	0.94440	0.0:0.0:1.0:0.0	.	2216;1966;2217;2104	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	F	2217;1624;1966;2104;601	ENSP00000351416:S2217F;ENSP00000332265:S1966F;ENSP00000427151:S2104F	ENSP00000332265:S1966F	S	-	2	0	ANKRD17	74175559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.660000	0.83776	2.587000	0.87381	0.650000	0.86243	TCT		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		22	251	0	0	0	0.00333	0	22	251				
PARM1	25849	broad.mit.edu	37	4	75937772	75937772	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:75937772C>T	ENST00000307428.7	+	2	393	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	61					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.H61Y(2)|p.H120Y(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAACGGCACTCACAACAACTC	0.517																																							uc003hih.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(181-183)CAC>TAC		prostatic androgen-repressed message-1							142.0	137.0	138.0					4																	75937772		2110	4237	6347	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75937772C>T	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.181C>T	4.37:g.75937772C>T	ENSP00000370224:p.His61Tyr						p.H61Y	NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN			2	421	+			61			Extracellular (Potential).		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.181C>T	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	C	6.039	0.375611	0.11409	.	.	ENSG00000169116	ENST00000307428	T	0.75050	-0.9	5.34	2.62	0.31277	.	1.201420	0.05724	N	0.598262	T	0.61375	0.2342	N	0.24115	0.695	0.09310	N	1	P	0.42296	0.775	B	0.40825	0.341	T	0.49293	-0.8955	10	0.30078	T	0.28	-0.0013	5.5298	0.16978	0.0:0.6576:0.163:0.1795	.	61	Q6UWI2	PARM1_HUMAN	Y	61	ENSP00000370224:H61Y	ENSP00000370224:H61Y	H	+	1	0	PARM1	76156796	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.204000	0.17335	0.223000	0.20920	0.563000	0.77884	CAC		0.517	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		7	68	0	0	0	0.001984	0	7	68				
CXCL9	4283	broad.mit.edu	37	4	76927368	76927368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:76927368G>T	ENST00000264888.5	-	2	162	c.124C>A	c.(124-126)Cac>Aac	p.H42N	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	42					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.H42N(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATTGTAGGTGGATAGTCCCT	0.453																																							uc003hjh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(124-126)CAC>AAC		small inducible cytokine B9 precursor							273.0	255.0	261.0					4																	76927368		2203	4300	6503	SO:0001583	missense	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76927368G>T	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.124C>A	4.37:g.76927368G>T	ENSP00000354901:p.His42Asn						p.H42N	NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	163	-			42					Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	c.124C>A	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	G	7.675	0.687886	0.14973	.	.	ENSG00000138755	ENST00000264888	T	0.04603	3.59	5.37	1.24	0.21308	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.449819	0.21665	N	0.070943	T	0.04452	0.0122	L	0.38953	1.18	0.09310	N	1	B	0.15473	0.013	B	0.28385	0.089	T	0.43212	-0.9405	10	0.25751	T	0.34	0.0043	6.8546	0.24034	0.0844:0.0:0.3926:0.523	.	42	Q07325	CXCL9_HUMAN	N	42	ENSP00000354901:H42N	ENSP00000354901:H42N	H	-	1	0	CXCL9	77146392	0.004000	0.15560	0.006000	0.13384	0.441000	0.31987	0.247000	0.18179	-0.034000	0.13713	0.462000	0.41574	CAC		0.453	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			33	178	1	0	2.61193e-14	0.009535	4.15106e-14	33	178				
FRAS1	80144	broad.mit.edu	37	4	79204011	79204011	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:79204011G>T	ENST00000325942.6	+	12	1585	c.1145G>T	c.(1144-1146)tGt>tTt	p.C382F	FRAS1_ENST00000264899.6_Missense_Mutation_p.C382F|FRAS1_ENST00000264895.6_Missense_Mutation_p.C382F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	382	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.C382F(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAAGGTGTGTGAGTGCCGA	0.537																																							uc003hlb.2		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(1144-1146)TGT>TTT		Fraser syndrome 1							112.0	117.0	115.0					4																	79204011		2034	4183	6217	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79204011G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1145G>T	4.37:g.79204011G>T	ENSP00000326330:p.Cys382Phe					FRAS1_uc003hkw.2_Missense_Mutation_p.C382F|FRAS1_uc003hky.1_Missense_Mutation_p.C86F|FRAS1_uc003hkz.2_Missense_Mutation_p.C86F	p.C382F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			12	1585	+			382			VWFC 6.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1145G>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.29|18.29	3.592234|3.592234	0.66219|0.66219	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000502446	D;D;D|.	0.82255|.	-1.59;-1.59;-1.59|.	5.6|5.6	5.6|5.6	0.85130|0.85130	von Willebrand factor, type C (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87265|0.87265	0.6134|0.6134	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	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|D	0.90079|0.90079	0.4169|0.4169	10|5	0.87932|.	D|.	0|.	.|.	19.612|19.612	0.95610|0.95610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	382;382;382;382|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.	.;FRAS1_HUMAN;.;.|.	F|L	382;382;382;122|311	ENSP00000326330:C382F;ENSP00000264895:C382F;ENSP00000264899:C382F|.	ENSP00000264895:C382F|.	C|V	+|+	2|1	0|0	FRAS1|FRAS1	79423035|79423035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.577000|0.577000	0.36160|0.36160	7.737000|7.737000	0.84957|0.84957	2.632000|2.632000	0.89209|0.89209	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.537	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			13	95	1	0	4.93089e-13	0.00245	7.65481e-13	13	95				
NAA11	84779	broad.mit.edu	37	4	80246593	80246593	+	Missense_Mutation	SNP	T	T	A	rs368691030		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:80246593T>A	ENST00000286794.4	-	1	611	c.439A>T	c.(439-441)Atg>Ttg	p.M147L	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	147	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.M147L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCCGCTTCATAGCATAAGCA	0.512																																							uc003hlt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(439-441)ATG>TTG		alpha-N-acetyltransferase 1B							68.0	70.0	69.0					4																	80246593		2034	4225	6259	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246593T>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.439A>T	4.37:g.80246593T>A	ENSP00000286794:p.Met147Leu						p.M147L	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	579	-			147			N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.439A>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994117	0.54041	.	.	ENSG00000156269	ENST00000286794	T	0.58940	0.3	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.64875	0.2638	M	0.84326	2.69	0.80722	D	1	P	0.42161	0.772	B	0.43225	0.412	T	0.72228	-0.4354	10	0.87932	D	0	-22.5643	13.3112	0.60380	0.0:0.0:0.0:1.0	.	147	Q9BSU3	NAA11_HUMAN	L	147	ENSP00000286794:M147L	ENSP00000286794:M147L	M	-	1	0	NAA11	80465617	1.000000	0.71417	0.969000	0.41365	0.251000	0.25915	7.122000	0.77169	2.308000	0.77769	0.533000	0.62120	ATG		0.512	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			13	74	0	0	0	0.001855	0	13	74				
FGF5	2250	broad.mit.edu	37	4	81188290	81188290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:81188290C>A	ENST00000312465.7	+	1	538	c.312C>A	c.(310-312)taC>taA	p.Y104*	FGF5_ENST00000456523.3_Nonsense_Mutation_p.Y104*	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	104					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.Y104*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TGCAGATCTACCCGGATGGCA	0.577																																							uc003hmd.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(310-312)TAC>TAA		fibroblast growth factor 5 isoform 1 precursor							46.0	50.0	49.0					4																	81188290		2202	4298	6500	SO:0001587	stop_gained	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188290C>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.312C>A	4.37:g.81188290C>A	ENSP00000311697:p.Tyr104*					FGF5_uc003hme.2_Nonsense_Mutation_p.Y104*	p.Y104*	NM_004464	NP_004455	P12034	FGF5_HUMAN			1	549	+			104					B2R554|O75846|Q3Y8M3|Q8NF90	Nonsense_Mutation	SNP	ENST00000312465.7	37	c.312C>A	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331994	0.95733	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	.	.	.	5.51	4.6	0.57074	.	0.053390	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9263	0.70881	0.0:0.922:0.0:0.078	.	.	.	.	X	104	.	ENSP00000311697:Y104X	Y	+	3	2	FGF5	81407314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.790000	0.38734	2.873000	0.98535	0.561000	0.74099	TAC		0.577	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			16	86	1	0	1.5739e-10	0.004007	2.30838e-10	16	86				
HNRNPDL	9987	broad.mit.edu	37	4	83347646	83347646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:83347646C>A	ENST00000295470.5	-	6	1337	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.G388*|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.G269*|HNRNPDL_ENST00000349655.4_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	388	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)	p.G388*(1)									TGTCCATATCCATAGTTCCCA	0.338																																							uc003hmr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1162-1164)GGA>TGA		heterogeneous nuclear ribonucleoprotein D-like							120.0	115.0	117.0					4																	83347646		2203	4300	6503	SO:0001587	stop_gained	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83347646C>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1162G>T	4.37:g.83347646C>A	ENSP00000295470:p.Gly388*					HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Intron	p.G388*	NM_031372	NP_112740	O14979	HNRDL_HUMAN			6	1697	-		Hepatocellular(203;0.114)	388			Tyr-rich.|Necessary for interaction with TNPO1.|Gly-rich.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Nonsense_Mutation	SNP	ENST00000295470.5	37	c.1162G>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	41	8.598758	0.98879	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1373	0.98033	0.0:1.0:0.0:0.0	.	.	.	.	X	388	.	ENSP00000295470:G388X	G	-	1	0	HNRPDL	83566670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.596000	0.61055	2.838000	0.97847	0.561000	0.74099	GGA		0.338	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		9	95	1	0	1.58986e-06	0.008291	2.00195e-06	9	95				
SEC31A	22872	broad.mit.edu	37	4	83748691	83748691	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:83748691G>A	ENST00000395310.2	-	24	3304	c.3122C>T	c.(3121-3123)tCa>tTa	p.S1041L	SEC31A_ENST00000443462.2_Missense_Mutation_p.S1021L|SEC31A_ENST00000505472.1_Missense_Mutation_p.S1072L|SEC31A_ENST00000508502.1_Missense_Mutation_p.S1026L|SEC31A_ENST00000509142.1_Missense_Mutation_p.S927L|SEC31A_ENST00000326950.5_Missense_Mutation_p.S1002L|SEC31A_ENST00000355196.2_Missense_Mutation_p.S1041L|SEC31A_ENST00000448323.1_Missense_Mutation_p.S1041L|SEC31A_ENST00000505984.1_Missense_Mutation_p.S987L|SEC31A_ENST00000264405.5_Missense_Mutation_p.S790L|SEC31A_ENST00000432794.1_Missense_Mutation_p.S1054L|SEC31A_ENST00000500777.2_Missense_Mutation_p.S888L|SEC31A_ENST00000348405.4_Missense_Mutation_p.S1002L|SEC31A_ENST00000513858.1_Missense_Mutation_p.S888L|SEC31A_ENST00000311785.7_Missense_Mutation_p.S927L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1041	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.S1041L(1)|p.S1054L(1)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TACTGGAGCTGAAGGCTGTTG	0.532																																							uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3121-3123)TCA>TTA		SEC31 homolog A isoform 1							188.0	164.0	172.0					4																	83748691		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83748691G>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3122C>T	4.37:g.83748691G>A	ENSP00000378721:p.Ser1041Leu					SEC31A_uc003hnd.2_Missense_Mutation_p.S210L|SEC31A_uc003hne.2_Missense_Mutation_p.S790L|SEC31A_uc011ccl.1_Missense_Mutation_p.S987L|SEC31A_uc003hnl.2_Missense_Mutation_p.S888L|SEC31A_uc003hng.2_Missense_Mutation_p.S1026L|SEC31A_uc003hnh.2_Missense_Mutation_p.S1041L|SEC31A_uc003hni.2_Missense_Mutation_p.S927L|SEC31A_uc003hnj.2_Missense_Mutation_p.S1002L|SEC31A_uc011ccm.1_Missense_Mutation_p.S1021L|SEC31A_uc011ccn.1_Missense_Mutation_p.S1026L|SEC31A_uc003hnk.2_Missense_Mutation_p.S1002L|SEC31A_uc003hnm.2_Missense_Mutation_p.S1041L	p.S1041L	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			24	3286	-		Hepatocellular(203;0.114)	1041			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.3122C>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.80|12.80	2.047891|2.047891	0.36085|0.36085	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.39056	.|1.3;1.1;2.35;2.38;1.18;2.23;2.35;1.3;1.18;1.12;1.1;2.38;2.35;3.17;2.31	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.606277	.|0.17595	.|N	.|0.168632	.|T	.|0.29588	.|0.0738	L|L	0.28274|0.28274	0.84|0.84	0.24357|0.24357	N|N	0.994894|0.994894	.|B;B;B;B;B;B;B;P;B	.|0.37663	.|0.017;0.044;0.007;0.063;0.007;0.089;0.009;0.604;0.015	.|B;B;B;B;B;B;B;B;B	.|0.32533	.|0.034;0.014;0.022;0.045;0.031;0.068;0.021;0.147;0.046	.|T	.|0.20075	.|-1.0286	.|10	.|0.08599	.|T	.|0.76	-2.8332|-2.8332	18.755|18.755	0.91828|0.91828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1021;987;888;1002;927;1026;1041;790;1054	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	X|L	204|1002;888;1041;1021;927;1054;1041;1002;927;1072;888;1026;1041;790;987	.|ENSP00000337602:S1002L;ENSP00000426886:S888L;ENSP00000378721:S1041L;ENSP00000408027:S1021L;ENSP00000426569:S927L;ENSP00000407944:S1054L;ENSP00000400926:S1041L;ENSP00000325087:S1002L;ENSP00000309070:S927L;ENSP00000421633:S1072L;ENSP00000421464:S888L;ENSP00000424635:S1026L;ENSP00000347329:S1041L;ENSP00000264405:S790L;ENSP00000424451:S987L	.|ENSP00000264405:S790L	Q|S	-|-	1|2	0|0	SEC31A|SEC31A	83967715|83967715	1.000000|1.000000	0.71417|0.71417	0.068000|0.068000	0.19968|0.19968	0.034000|0.034000	0.12701|0.12701	2.522000|2.522000	0.45572|0.45572	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.532	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		13	166	0	0	0	0.001855	0	13	166				
PTPN13	5783	broad.mit.edu	37	4	87643512	87643512	+	Silent	SNP	G	G	T	rs367726205	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:87643512G>T	ENST00000411767.2	+	10	1596	c.1533G>T	c.(1531-1533)gcG>gcT	p.A511A	PTPN13_ENST00000316707.6_Silent_p.A511A|PTPN13_ENST00000511467.1_Silent_p.A511A|PTPN13_ENST00000427191.2_Silent_p.A511A|PTPN13_ENST00000436978.1_Silent_p.A511A			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	511					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.A511A(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAATCAAAGCGTCCATGCTTG	0.453																																							uc003hpz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(1531-1533)GCG>GCT		protein tyrosine phosphatase, non-receptor type							151.0	141.0	144.0					4																	87643512		1931	4142	6073	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87643512G>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1533G>T	4.37:g.87643512G>T						PTPN13_uc003hpy.2_Silent_p.A511A|PTPN13_uc003hqa.2_Silent_p.A511A|PTPN13_uc003hqb.2_Silent_p.A511A	p.A511A	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	10	2013	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	511					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.1533G>T	CCDS47094.1																																																																																				0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			35	152	1	0	6.53348e-20	0.003755	1.12294e-19	35	152				
DMP1	1758	broad.mit.edu	37	4	88583892	88583892	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:88583892G>T	ENST00000339673.6	+	6	1061	c.962G>T	c.(961-963)aGc>aTc	p.S321I	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S305I|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	321					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.S321I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAAGAAGACAGCAAGGAGAAT	0.517																																							uc003hqv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(961-963)AGC>ATC		dentin matrix acidic phosphoprotein 1 isoform 1							93.0	90.0	91.0					4																	88583892		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583892G>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.962G>T	4.37:g.88583892G>T	ENSP00000340935:p.Ser321Ile					DMP1_uc003hqw.2_Missense_Mutation_p.S305I	p.S321I	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1066	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	321					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.962G>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314356	0.23908	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.53423	0.62;0.62	5.41	1.38	0.22167	.	0.588633	0.16519	N	0.210885	T	0.57725	0.2073	L	0.56199	1.76	0.09310	N	1	D;D	0.67145	0.995;0.996	D;D	0.75020	0.974;0.985	T	0.45308	-0.9270	10	0.87932	D	0	-4.3464	7.1904	0.25822	0.1576:0.4153:0.4272:0.0	.	305;321	Q13316-2;Q13316	.;DMP1_HUMAN	I	321;305	ENSP00000340935:S321I;ENSP00000282479:S305I	ENSP00000282479:S305I	S	+	2	0	DMP1	88802916	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.155000	0.16362	0.219000	0.20840	0.655000	0.94253	AGC		0.517	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			7	64	1	0	8.12818e-05	0.001984	9.43997e-05	7	64				
DMP1	1758	broad.mit.edu	37	4	88584284	88584284	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:88584284G>T	ENST00000339673.6	+	6	1453	c.1354G>T	c.(1354-1356)Gac>Tac	p.D452Y	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D436Y|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	452					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.D452Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TTCTGAGGAAGACGACAGTGA	0.532																																							uc003hqv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1354-1356)GAC>TAC		dentin matrix acidic phosphoprotein 1 isoform 1							86.0	77.0	80.0					4																	88584284		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584284G>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1354G>T	4.37:g.88584284G>T	ENSP00000340935:p.Asp452Tyr					DMP1_uc003hqw.2_Missense_Mutation_p.D436Y	p.D452Y	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1458	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	452					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1354G>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	3.657	-0.070284	0.07228	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60171	0.21;0.21	2.93	2.08	0.27032	.	0.570581	0.16783	N	0.199708	T	0.65749	0.2721	L	0.57536	1.79	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.67231	0.917;0.95	T	0.52946	-0.8507	10	0.87932	D	0	-1.2672	5.9499	0.19239	0.1462:0.0:0.8538:0.0	.	436;452	Q13316-2;Q13316	.;DMP1_HUMAN	Y	452;436	ENSP00000340935:D452Y;ENSP00000282479:D436Y	ENSP00000282479:D436Y	D	+	1	0	DMP1	88803308	0.985000	0.35326	0.025000	0.17156	0.214000	0.24535	1.263000	0.33004	0.822000	0.34565	0.591000	0.81541	GAC		0.532	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			12	55	1	0	3.07112e-06	0.000978	3.80187e-06	12	55				
PKD2	5311	broad.mit.edu	37	4	88989119	88989119	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:88989119G>A	ENST00000508588.1	+	8	1077	c.682G>A	c.(682-684)Gat>Aat	p.D228N	PKD2_ENST00000237596.2_Missense_Mutation_p.D810N|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.D228N			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.D810N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCGAAGCCTGGATGACTCTGA	0.502																																							uc003hre.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2428-2430)GAT>AAT		polycystin 2							136.0	122.0	127.0					4																	88989119		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88989119G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.682G>A	4.37:g.88989119G>A	ENSP00000427131:p.Asp228Asn					PKD2_uc011cdf.1_Missense_Mutation_p.D228N|PKD2_uc011cdg.1_Missense_Mutation_p.D136N|PKD2_uc011cdh.1_Missense_Mutation_p.D33N	p.D810N	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	13	2494	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	810			Linker.|Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2428G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.875502	0.91664	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.91577	-0.19;-2.87;-2.87	5.68	5.68	0.88126	.	0.049654	0.85682	D	0.000000	D	0.92625	0.7657	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.57425	0.82	D	0.90587	0.4534	10	0.29301	T	0.29	-24.456	19.7939	0.96471	0.0:0.0:1.0:0.0	.	810	Q13563	PKD2_HUMAN	N	810;228;228	ENSP00000237596:D810N;ENSP00000427131:D228N;ENSP00000425289:D228N	ENSP00000237596:D810N	D	+	1	0	PKD2	89208143	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.350000	0.79385	2.668000	0.90789	0.563000	0.77884	GAT		0.502	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		7	54	0	0	0	0.001984	0	7	54				
MMRN1	22915	broad.mit.edu	37	4	90856532	90856532	+	Silent	SNP	G	G	A	rs200279149		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:90856532G>A	ENST00000394980.1	+	7	2020	c.1701G>A	c.(1699-1701)ttG>ttA	p.L567L	MMRN1_ENST00000264790.2_Silent_p.L567L|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.L309L			Q13201	MMRN1_HUMAN	multimerin 1	567					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.L567L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTGAAGATTTGCACATTCAAG	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		21255	0.001		0.0	False		,,,				2504	0.0						uc003hst.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1699-1701)TTG>TTA		multimerin 1							67.0	68.0	68.0					4																	90856532		2203	4299	6502	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856532G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1701G>A	4.37:g.90856532G>A						MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.L309L	p.L567L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	1772	+		Hepatocellular(203;0.114)	567					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.1701G>A	CCDS3635.1																																																																																				0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		11	64	0	0	0	0.008291	0	11	64				
PDHA2	5161	broad.mit.edu	37	4	96762029	96762029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:96762029G>T	ENST00000295266.4	+	1	791	c.728G>T	c.(727-729)aGg>aTg	p.R243M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	243					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R243M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TACTACAAGAGGGGCAATTTT	0.438																																							uc003htr.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(727-729)AGG>ATG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						115.0	120.0	118.0					4																	96762029		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762029G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.728G>T	4.37:g.96762029G>T	ENSP00000295266:p.Arg243Met						p.R243M	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	791	+		Hepatocellular(203;0.114)	243					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.728G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572499	0.65765	.	.	ENSG00000163114	ENST00000295266	D	0.97404	-4.37	4.81	3.95	0.45737	Dehydrogenase, E1 component (1);	0.048104	0.85682	D	0.000000	D	0.98532	0.9510	M	0.92122	3.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98988	1.0807	10	0.87932	D	0	-10.8438	10.2935	0.43610	0.0988:0.0:0.9012:0.0	.	243	P29803	ODPAT_HUMAN	M	243	ENSP00000295266:R243M	ENSP00000295266:R243M	R	+	2	0	PDHA2	96981052	1.000000	0.71417	0.581000	0.28614	0.854000	0.48673	7.012000	0.76366	1.369000	0.46134	0.467000	0.42956	AGG		0.438	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			24	67	1	0	5.61819e-17	0.005443	9.38396e-17	24	67				
ADH6	130	broad.mit.edu	37	4	100134761	100134761	+	Splice_Site	SNP	A	A	G	rs191193532		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100134761A>G	ENST00000237653.7	-	3	647		c.e3+1		RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Splice_Site|ADH6_ENST00000394899.2_Splice_Site	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GCTAATTCCTACCTGGTTTCA	0.448													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0						uc003hup.3		NA																	2	Unknown(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.e3+1		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						161.0	134.0	143.0					4																	100134761		2203	4300	6503	SO:0001630	splice_region_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100134761A>G	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.262+1T>C	4.37:g.100134761A>G						uc003hum.1_Intron|ADH6_uc003huo.2_Splice_Site_p.G88_splice|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Splice_Site_p.G88_splice	p.G88_splice	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	3	356	-								B3KS45|Q58F53	Splice_Site	SNP	ENST00000237653.7	37	c.262_splice	CCDS3647.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	6.765	0.510030	0.12883	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	.	.	.	4.75	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6749	0.34174	0.8393:0.0:0.1607:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADH6	100353784	1.000000	0.71417	0.843000	0.33291	0.045000	0.14185	5.201000	0.65163	0.201000	0.20466	0.383000	0.25322	.		0.448	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	Intron	16	90	0	0	0	0.00499	0	16	90				
ADH1C	126	broad.mit.edu	37	4	100264205	100264205	+	RNA	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100264205G>A	ENST00000510055.1	-	0	749				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGTAGACCCTGGGGTGACCTA	0.428																																							uc003huu.2		NA																	0					0						c.(574-576)CCA>CTA		class I alcohol dehydrogenase, gamma subunit	Fomepizole(DB01213)|NADH(DB00157)						117.0	123.0	121.0					4																	100264205		2203	4300	6503			126	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100264205G>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100264205G>A							p.P192L	NM_000669	NP_000660	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	8	660	-			192					Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.575C>T																																																																																					0.428	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		44	210	0	0	0	0.007835	0	44	210				
TRMT10A	93587	broad.mit.edu	37	4	100470252	100470252	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100470252G>C	ENST00000273962.3	-	8	1325	c.1013C>G	c.(1012-1014)cCa>cGa	p.P338R	TRMT10A_ENST00000394877.3_Missense_Mutation_p.P338R|TRMT10A_ENST00000394876.2_Missense_Mutation_p.P338R	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	338					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.P338R(1)									ACATTAGTGTGGCAGAGAGTT	0.348																																							uc003huy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1012-1014)CCA>CGA		RNA (guanine-9-) methyltransferase domain							182.0	164.0	170.0					4																	100470252		2203	4300	6503	SO:0001583	missense	93587						methyltransferase activity	g.chr4:100470252G>C	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.1013C>G	4.37:g.100470252G>C	ENSP00000273962:p.Pro338Arg					RG9MTD2_uc003huz.3_Missense_Mutation_p.P338R|RG9MTD2_uc003hva.3_Missense_Mutation_p.P338R	p.P338R	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)	8	1326	-			338					B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.1013C>G	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575021	0.28092	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18502	2.21;2.21;2.21	5.55	2.92	0.33932	.	2.841700	0.01075	N	0.004893	T	0.14313	0.0346	L	0.27053	0.805	0.09310	N	1	B	0.29805	0.257	B	0.26969	0.075	T	0.23619	-1.0183	10	0.66056	D	0.02	0.0516	5.3241	0.15896	0.3046:0.1365:0.5589:0.0	.	338	Q8TBZ6	RG9D2_HUMAN	R	338	ENSP00000378343:P338R;ENSP00000273962:P338R;ENSP00000378342:P338R	ENSP00000273962:P338R	P	-	2	0	RG9MTD2	100689275	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.574000	0.23714	0.402000	0.25451	0.655000	0.94253	CCA		0.348	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		20	100	0	0	0	0.010504	0	20	100				
MTTP	4547	broad.mit.edu	37	4	100532334	100532334	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:100532334G>T	ENST00000265517.5	+	13	2007	c.1804G>T	c.(1804-1806)Gct>Tct	p.A602S	MTTP_ENST00000457717.1_Missense_Mutation_p.A602S|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.A629S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	602	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.A602S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGAAATGGTCGCTCACAATTA	0.423																																							uc003hvc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1804-1806)GCT>TCT		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						163.0	150.0	154.0					4																	100532334		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532334G>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1804G>T	4.37:g.100532334G>T	ENSP00000265517:p.Ala602Ser					MTTP_uc011cej.1_Missense_Mutation_p.A629S	p.A602S	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2060	+			602			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1804G>T	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575167	0.28092	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62105	0.05;0.05;0.05	5.84	3.17	0.36434	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.459022	0.26951	N	0.021661	T	0.47581	0.1453	L	0.38175	1.15	0.09310	N	1	B;B	0.17268	0.013;0.021	B;B	0.14023	0.01;0.007	T	0.25847	-1.0120	10	0.20046	T	0.44	-25.4739	10.4586	0.44565	0.2482:0.0:0.7518:0.0	.	629;602	E9PBP6;P55157	.;MTP_HUMAN	S	629;602;602	ENSP00000427679:A629S;ENSP00000400821:A602S;ENSP00000265517:A602S	ENSP00000265517:A602S	A	+	1	0	MTTP	100751357	0.005000	0.15991	0.521000	0.27850	0.937000	0.57800	0.677000	0.25262	1.483000	0.48342	0.655000	0.94253	GCT		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			16	94	1	0	3.32936e-07	0.006122	4.27981e-07	16	94				
MANBA	4126	broad.mit.edu	37	4	103595107	103595107	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:103595107C>A	ENST00000226578.4	-	8	1180	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	MANBA_ENST00000505239.1_Missense_Mutation_p.D304Y	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	361					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.D361Y(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGGAATGAATCTGCTGGGATC	0.373																																							uc003hwg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1081-1083)GAT>TAT		mannosidase, beta A, lysosomal precursor							78.0	85.0	83.0					4																	103595107		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103595107C>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1081G>T	4.37:g.103595107C>A	ENSP00000226578:p.Asp361Tyr					MANBA_uc011ces.1_Missense_Mutation_p.D304Y	p.D361Y	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	8	1181	-		Hepatocellular(203;0.217)	361					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1081G>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986923	0.74589	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.35236	1.32;1.32	5.63	5.63	0.86233	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047440	0.85682	D	0.000000	T	0.73753	0.3627	H	0.95982	3.75	0.53688	D	0.999979	D;D	0.89917	1.0;0.985	D;D	0.74348	0.983;0.931	T	0.82573	-0.0390	10	0.87932	D	0	-12.0017	19.6855	0.95978	0.0:1.0:0.0:0.0	.	304;361	E9PFW2;O00462	.;MANBA_HUMAN	Y	361;304	ENSP00000226578:D361Y;ENSP00000427322:D304Y	ENSP00000226578:D361Y	D	-	1	0	MANBA	103814155	1.000000	0.71417	0.925000	0.36789	0.957000	0.61999	6.006000	0.70724	2.637000	0.89404	0.561000	0.74099	GAT		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			15	70	1	0	5.3912e-06	0.006122	6.62078e-06	15	70				
COL25A1	84570	broad.mit.edu	37	4	109738569	109738569	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:109738569G>C	ENST00000399132.1	-	37	2476	c.1946C>G	c.(1945-1947)cCt>cGt	p.P649R		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.P649R(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAACAGCCAGGCATGGGTAA	0.413																																							uc003hze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1945-1947)CCT>CGT		collagen, type XXV, alpha 1 isoform 1							82.0	77.0	78.0					4																	109738569		1828	4076	5904	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109738569G>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1946C>G	4.37:g.109738569G>C	ENSP00000382083:p.Pro649Arg					COL25A1_uc003hzd.2_RNA	p.P649R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	36	2477	-		Hepatocellular(203;0.217)	649			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000399132.1	37	c.1946C>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536560	0.45176	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.054359	0.85682	D	0.000000	D	0.95636	0.8581	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95021	0.8160	9	.	.	.	-0.0768	19.7189	0.96135	0.0:0.0:1.0:0.0	.	649	Q9BXS0	COPA1_HUMAN	R	649;651;578	ENSP00000382083:P649R	.	P	-	2	0	COL25A1	109958018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.273000	0.95719	2.665000	0.90641	0.563000	0.77884	CCT		0.413	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		5	72	0	0	0	0.001984	0	5	72				
ENPEP	2028	broad.mit.edu	37	4	111441486	111441486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:111441486C>A	ENST00000265162.5	+	10	2033	c.1691C>A	c.(1690-1692)cCa>cAa	p.P564Q	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	564					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P564Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTGTTGGACCCAAGAGCTAAC	0.418																																							uc003iab.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(1690-1692)CCA>CAA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						127.0	113.0	118.0					4																	111441486		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441486C>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1691C>A	4.37:g.111441486C>A	ENSP00000265162:p.Pro564Gln						p.P564Q	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	10	2033	+		Hepatocellular(203;0.217)	564			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1691C>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033546	0.93575	.	.	ENSG00000138792	ENST00000265162	T	0.01265	5.08	5.78	5.78	0.91487	.	0.501221	0.23506	N	0.047459	T	0.04227	0.0117	M	0.68317	2.08	0.39810	D	0.972694	P	0.36599	0.56	B	0.43052	0.406	T	0.57539	-0.7794	10	0.23302	T	0.38	.	19.6049	0.95576	0.0:1.0:0.0:0.0	.	564	Q07075	AMPE_HUMAN	Q	564	ENSP00000265162:P564Q	ENSP00000265162:P564Q	P	+	2	0	ENPEP	111660935	0.100000	0.21855	0.090000	0.20809	0.573000	0.36030	3.821000	0.55700	2.719000	0.93026	0.650000	0.86243	CCA		0.418	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			13	83	1	0	7.93312e-07	0.00245	1.00717e-06	13	83				
PITX2	5308	broad.mit.edu	37	4	111554147	111554147	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:111554147G>T	ENST00000354925.2	-	4	1713	c.8C>A	c.(7-9)aCc>aAc	p.T3N	PITX2_ENST00000355080.5_Missense_Mutation_p.T3N|PITX2_ENST00000394598.2_Missense_Mutation_p.T3N|PITX2_ENST00000394595.3_Missense_Mutation_p.T3N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	3					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T3N(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGGCAGTTGGTCTCCATTCC	0.592																																							uc003iad.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)ACC>AAC		paired-like homeodomain transcription factor 2							125.0	125.0	125.0					4																	111554147		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111554147G>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.8C>A	4.37:g.111554147G>T	ENSP00000347004:p.Thr3Asn					PITX2_uc003iae.2_Missense_Mutation_p.T3N|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Missense_Mutation_p.T3N	p.T3N	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	2	590	-		Hepatocellular(203;0.217)	3					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.8C>A	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335514	0.60853	.	.	ENSG00000164093	ENST00000394598;ENST00000355080;ENST00000354925;ENST00000394595;ENST00000511837;ENST00000511990	D;D;D;D;D	0.93133	-2.94;-3.02;-2.94;-3.17;-2.88	5.18	5.18	0.71444	.	.	.	.	.	D	0.86920	0.6049	N	0.08118	0	0.26849	N	0.968219	B;B	0.15930	0.015;0.0	B;B	0.23419	0.046;0.0	T	0.79102	-0.1941	9	0.52906	T	0.07	.	14.3371	0.66598	0.0:0.148:0.852:0.0	.	3;3	Q99697-3;Q99697	.;PITX2_HUMAN	N	3	ENSP00000378097:T3N;ENSP00000347192:T3N;ENSP00000347004:T3N;ENSP00000421454:T3N;ENSP00000424142:T3N	ENSP00000347004:T3N	T	-	2	0	PITX2	111773596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.366000	0.66122	2.411000	0.81874	0.557000	0.71058	ACC		0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			14	169	1	0	4.7546e-09	0.004007	6.62633e-09	14	169				
ANK2	287	broad.mit.edu	37	4	114257903	114257903	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:114257903T>C	ENST00000357077.4	+	31	3815	c.3762T>C	c.(3760-3762)gaT>gaC	p.D1254D	ANK2_ENST00000509550.1_Silent_p.D430D|ANK2_ENST00000264366.6_Silent_p.D1221D|ANK2_ENST00000394537.3_Silent_p.D1254D|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000506722.1_Silent_p.D1245D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1254	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D1254D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGGGGAGATGCACCAACCT	0.388																																							uc003ibe.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3760-3762)GAT>GAC		ankyrin 2 isoform 1							115.0	106.0	109.0					4																	114257903		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114257903T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3762T>C	4.37:g.114257903T>C						ANK2_uc003ibd.3_Silent_p.D1245D|ANK2_uc003ibf.3_Silent_p.D1254D|ANK2_uc011cgc.1_Silent_p.D430D|ANK2_uc003ibg.3_Silent_p.D249D|ANK2_uc011cgb.1_Silent_p.D1269D	p.D1254D	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	31	3862	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1221					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.3762T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	8.964	0.971385	0.18736	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.48	-0.36	0.12568	.	.	.	.	.	T	0.42471	0.1204	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	2.5231	0.04684	0.1228:0.3621:0.1261:0.3891	.	.	.	.	R	267	.	.	C	+	1	0	ANK2	114477352	0.035000	0.19736	0.988000	0.46212	0.923000	0.55619	-0.893000	0.04127	0.041000	0.15688	-0.290000	0.09829	TGC		0.388	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	95	0	0	0	0.00308	0	5	95				
ANK2	287	broad.mit.edu	37	4	114277294	114277294	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:114277294C>G	ENST00000357077.4	+	38	7573	c.7520C>G	c.(7519-7521)tCc>tGc	p.S2507C	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2474C|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2507					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S2507C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTGCGGTCCCGGCTACTC	0.537																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(7519-7521)TCC>TGC		ankyrin 2 isoform 1							71.0	73.0	72.0					4																	114277294		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114277294C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7520C>G	4.37:g.114277294C>G	ENSP00000349588:p.Ser2507Cys					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2522C	p.S2507C	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7620	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2474					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7520C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659573	0.67586	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68903	-0.35;-0.36	5.99	5.15	0.70609	.	0.231488	0.30593	N	0.009281	T	0.78966	0.4367	M	0.64997	1.995	0.80722	D	1	B;D	0.76494	0.016;0.999	B;D	0.65874	0.005;0.939	T	0.79120	-0.1934	9	.	.	.	.	17.3367	0.87283	0.0:0.8749:0.1251:0.0	.	2474;2507	Q01484;Q01484-4	ANK2_HUMAN;.	C	2507;2474	ENSP00000349588:S2507C;ENSP00000264366:S2474C	.	S	+	2	0	ANK2	114496743	0.998000	0.40836	0.994000	0.49952	0.983000	0.72400	2.407000	0.44565	1.523000	0.49018	0.655000	0.94253	TCC		0.537	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		27	91	0	0	0	0.00632	0	27	91				
NDST4	64579	broad.mit.edu	37	4	115767068	115767068	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:115767068C>A	ENST00000264363.2	-	10	2704	c.2026G>T	c.(2026-2028)Gct>Tct	p.A676S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	676	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.A676S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CGTCTTGGAGCTTCTTCCGAA	0.458																																							uc003ibu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2026-2028)GCT>TCT		heparan sulfate N-deacetylase/N-sulfotransferase							112.0	103.0	106.0					4																	115767068		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767068C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2026G>T	4.37:g.115767068C>A	ENSP00000264363:p.Ala676Ser					NDST4_uc010imw.2_RNA	p.A676S	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2705	-		Ovarian(17;0.156)	676			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2026G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637732	0.47049	.	.	ENSG00000138653	ENST00000264363	T	0.58652	0.32	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.166960	0.53938	D	0.000059	T	0.72211	0.3432	M	0.76838	2.35	0.41422	D	0.987807	B	0.21381	0.055	B	0.42214	0.38	T	0.70784	-0.4778	10	0.51188	T	0.08	.	19.6454	0.95775	0.0:1.0:0.0:0.0	.	676	Q9H3R1	NDST4_HUMAN	S	676	ENSP00000264363:A676S	ENSP00000264363:A676S	A	-	1	0	NDST4	115986517	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	4.536000	0.60636	2.629000	0.89072	0.655000	0.94253	GCT		0.458	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		21	81	1	0	0.000132079	0.008871	0.000152819	21	81				
NDST4	64579	broad.mit.edu	37	4	115997603	115997603	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:115997603G>A	ENST00000264363.2	-	2	1268	c.590C>T	c.(589-591)cCt>cTt	p.P197L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	197	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.P197L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGGAGATTGAGGGTTAACAAA	0.393																																							uc003ibu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(589-591)CCT>CTT		heparan sulfate N-deacetylase/N-sulfotransferase							75.0	75.0	75.0					4																	115997603		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997603G>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.590C>T	4.37:g.115997603G>A	ENSP00000264363:p.Pro197Leu					NDST4_uc010imw.2_Intron	p.P197L	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1269	-		Ovarian(17;0.156)	197			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.590C>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747356	0.69533	.	.	ENSG00000138653	ENST00000264363	T	0.38240	1.15	5.25	5.25	0.73442	.	0.164100	0.56097	D	0.000036	T	0.59445	0.2194	M	0.84773	2.715	0.80722	D	1	P	0.40909	0.732	P	0.53185	0.72	T	0.65236	-0.6217	10	0.87932	D	0	.	15.2864	0.73831	0.0:0.0:0.8596:0.1404	.	197	Q9H3R1	NDST4_HUMAN	L	197	ENSP00000264363:P197L	ENSP00000264363:P197L	P	-	2	0	NDST4	116217052	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	6.663000	0.74431	2.437000	0.82529	0.591000	0.81541	CCT		0.393	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		19	61	0	0	0	0.006122	0	19	61				
TRAM1L1	133022	broad.mit.edu	37	4	118006189	118006189	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:118006189C>G	ENST00000310754.4	-	1	547	c.361G>C	c.(361-363)Gag>Cag	p.E121Q		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	121	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E121Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGACCAGACTCGTTAAACTTG	0.368																																							uc003ibv.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(361-363)GAG>CAG		translocation associated membrane protein 1-like							87.0	78.0	81.0					4																	118006189		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006189C>G	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.361G>C	4.37:g.118006189C>G	ENSP00000309402:p.Glu121Gln						p.E121Q	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	548	-			121			Cytoplasmic (Potential).|TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.361G>C	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739580	0.49045	.	.	ENSG00000174599	ENST00000310754	D	0.86694	-2.16	4.29	4.29	0.51040	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93263	0.6645	10	0.87932	D	0	-22.1777	15.0463	0.71830	0.0:1.0:0.0:0.0	.	121	Q8N609	TR1L1_HUMAN	Q	121	ENSP00000309402:E121Q	ENSP00000309402:E121Q	E	-	1	0	TRAM1L1	118225637	1.000000	0.71417	0.026000	0.17262	0.005000	0.04900	6.749000	0.74883	2.664000	0.90586	0.655000	0.94253	GAG		0.368	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		8	61	0	0	0	0.004482	0	8	61				
FAT4	79633	broad.mit.edu	37	4	126336493	126336493	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:126336493G>T	ENST00000394329.3	+	5	6388	c.6375G>T	c.(6373-6375)gtG>gtT	p.V2125V	FAT4_ENST00000335110.5_Silent_p.V423V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2125	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2125V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACAGTGGTGGCTACAGACA	0.418																																							uc003ifj.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6373-6375)GTG>GTT		FAT tumor suppressor homolog 4 precursor							88.0	88.0	88.0					4																	126336493		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336493G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6375G>T	4.37:g.126336493G>T						FAT4_uc011cgp.1_Silent_p.V423V	p.V2125V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6375	+			2125			Cadherin 20.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6375G>T	CCDS3732.3																																																																																				0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		19	84	1	0	6.49762e-13	0.006122	1.00164e-12	19	84				
FAT4	79633	broad.mit.edu	37	4	126372972	126372972	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:126372972C>T	ENST00000394329.3	+	9	10814	c.10801C>T	c.(10801-10803)Cat>Tat	p.H3601Y	FAT4_ENST00000335110.5_Missense_Mutation_p.H1899Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3601	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H3601Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAACTGTGCATATCACAGT	0.423																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10801-10803)CAT>TAT		FAT tumor suppressor homolog 4 precursor							86.0	86.0	86.0					4																	126372972		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372972C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10801C>T	4.37:g.126372972C>T	ENSP00000377862:p.His3601Tyr					FAT4_uc011cgp.1_Missense_Mutation_p.H1899Y|FAT4_uc003ifi.1_Missense_Mutation_p.H1079Y	p.H3601Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10801	+			3601			Cadherin 34.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10801C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549312	0.27652	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51325	0.71;0.71	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.217157	0.22602	U	0.057946	T	0.45357	0.1338	L	0.33753	1.03	0.58432	D	0.999999	P;P;P	0.52316	0.779;0.931;0.952	B;B;B	0.44278	0.346;0.396;0.445	T	0.29458	-1.0011	10	0.37606	T	0.19	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1899;3601;3601	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Y	3601;1899	ENSP00000377862:H3601Y;ENSP00000335169:H1899Y	ENSP00000335169:H1899Y	H	+	1	0	FAT4	126592422	1.000000	0.71417	0.970000	0.41538	0.101000	0.19017	7.662000	0.83803	2.793000	0.96121	0.655000	0.94253	CAT		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		15	106	0	0	0	0.003163	0	15	106				
FAT4	79633	broad.mit.edu	37	4	126412741	126412741	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:126412741G>T	ENST00000394329.3	+	17	14777	c.14764G>T	c.(14764-14766)Ggg>Tgg	p.G4922W	FAT4_ENST00000335110.5_Missense_Mutation_p.G3163W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4922					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4865W(1)|p.G4922W(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATGAAGCTAGGGCAGCAAGC	0.557																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14764-14766)GGG>TGG		FAT tumor suppressor homolog 4 precursor							61.0	58.0	59.0					4																	126412741		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412741G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14764G>T	4.37:g.126412741G>T	ENSP00000377862:p.Gly4922Trp					FAT4_uc011cgp.1_Missense_Mutation_p.G3163W|FAT4_uc003ifi.1_Missense_Mutation_p.G2399W	p.G4922W	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14764	+			4922			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14764G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395052	0.42512	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78246	-0.97;-1.16	5.19	4.35	0.52113	.	0.000000	0.34906	U	0.003588	T	0.81791	0.4897	L	0.44542	1.39	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.81914	0.995;0.982;0.992	T	0.81933	-0.0706	10	0.66056	D	0.02	.	9.1945	0.37220	0.1636:0.0:0.8364:0.0	.	3163;4922;4921	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	W	4922;3163	ENSP00000377862:G4922W;ENSP00000335169:G3163W	ENSP00000335169:G3163W	G	+	1	0	FAT4	126632191	1.000000	0.71417	0.965000	0.40720	0.382000	0.30200	6.504000	0.73704	1.197000	0.43143	0.491000	0.48974	GGG		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	59	1	0	5.16669e-11	0.000978	7.65803e-11	11	59				
PCDH10	57575	broad.mit.edu	37	4	134073017	134073017	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:134073017C>A	ENST00000264360.5	+	1	2548	c.1722C>A	c.(1720-1722)atC>atA	p.I574I	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	574	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I574I(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCTGCCATCGTGGCGCCTC	0.677																																							uc003iha.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1720-1722)ATC>ATA		protocadherin 10 isoform 1 precursor							30.0	34.0	33.0					4																	134073017		2105	4170	6275	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073017C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1722C>A	4.37:g.134073017C>A						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.I574I	p.I574I	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2548	+			574			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1722C>A	CCDS34063.1																																																																																				0.677	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	64	1	0	2.17888e-05	0.006214	2.60114e-05	9	64				
PCDH18	54510	broad.mit.edu	37	4	138449939	138449939	+	Silent	SNP	C	C	A	rs376062378		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:138449939C>A	ENST00000344876.4	-	2	2909	c.2523G>T	c.(2521-2523)ggG>ggT	p.G841G	PCDH18_ENST00000507846.1_Silent_p.G620G|PCDH18_ENST00000412923.2_Silent_p.G840G|PCDH18_ENST00000511115.1_Silent_p.G21G|PCDH18_ENST00000510305.1_Silent_p.G52G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	841					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G841G(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGATATTGCCCCTGGTGAA	0.408																																							uc003ihe.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(3)|skin(2)	5						c.(2521-2523)GGG>GGT		protocadherin 18 precursor							126.0	136.0	132.0					4																	138449939		2203	4300	6503	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449939C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2523G>T	4.37:g.138449939C>A						PCDH18_uc003ihf.3_Silent_p.G833G|PCDH18_uc011cgz.1_Silent_p.G52G|PCDH18_uc003ihg.3_Silent_p.G620G|PCDH18_uc011cha.1_Silent_p.G21G	p.G841G	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			2	2910	-	all_hematologic(180;0.24)		841			Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.2523G>T	CCDS34064.1																																																																																				0.408	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		23	107	1	0	1.1804e-14	0.003954	1.90746e-14	23	107				
PCDH18	54510	broad.mit.edu	37	4	138451090	138451090	+	Missense_Mutation	SNP	A	A	G	rs143055456	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:138451090A>G	ENST00000344876.4	-	1	2539	c.2153T>C	c.(2152-2154)gTg>gCg	p.V718A	PCDH18_ENST00000507846.1_Missense_Mutation_p.V498A|PCDH18_ENST00000412923.2_Missense_Mutation_p.V718A|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	718					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V718A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCAAATAGCACCATAATAAC	0.443																																							uc003ihe.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(2152-2154)GTG>GCG		protocadherin 18 precursor		A	ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	140.0	125.0	130.0		2153	5.5	1.0	4	dbSNP_134	130	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PCDH18	NM_019035.3	64	0,4,6499	GG,GA,AA		0.0349,0.0227,0.0308	probably-damaging	718/1136	138451090	4,13002	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451090A>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2153T>C	4.37:g.138451090A>G	ENSP00000355082:p.Val718Ala					PCDH18_uc003ihf.3_Missense_Mutation_p.V711A|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.V498A|PCDH18_uc011cha.1_Intron	p.V718A	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2540	-	all_hematologic(180;0.24)		718			Helical; (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2153T>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878049	0.51801	2.27E-4	3.49E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.57273	0.51;0.51;0.41	5.53	5.53	0.82687	.	0.000000	0.39020	N	0.001488	T	0.40694	0.1127	N	0.21508	0.67	0.80722	D	1	P;B;P	0.52463	0.953;0.194;0.953	B;B;B	0.39971	0.315;0.087;0.315	T	0.46233	-0.9206	10	0.62326	D	0.03	.	15.8331	0.78773	1.0:0.0:0.0:0.0	.	498;718;718	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	A	718;718;498	ENSP00000355082:V718A;ENSP00000390688:V718A;ENSP00000425903:V498A	ENSP00000355082:V718A	V	-	2	0	PCDH18	138670540	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	9.077000	0.94016	2.315000	0.78130	0.533000	0.62120	GTG		0.443	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		11	83	0	0	0	0.008291	0	11	83				
PCDH18	54510	broad.mit.edu	37	4	138451339	138451339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:138451339G>T	ENST00000344876.4	-	1	2290	c.1904C>A	c.(1903-1905)tCa>tAa	p.S635*	PCDH18_ENST00000507846.1_Nonsense_Mutation_p.S415*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.S635*|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GATGTCACATGATCGTGGATC	0.443																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1903-1905)TCA>TAA		protocadherin 18 precursor							223.0	196.0	205.0					4																	138451339		2203	4300	6503	SO:0001587	stop_gained	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451339G>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1904C>A	4.37:g.138451339G>T	ENSP00000355082:p.Ser635*					PCDH18_uc003ihf.3_Nonsense_Mutation_p.S628*|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Nonsense_Mutation_p.S415*|PCDH18_uc011cha.1_Intron	p.S635*	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2291	-	all_hematologic(180;0.24)		635			Cadherin 6.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Nonsense_Mutation	SNP	ENST00000344876.4	37	c.1904C>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	42	9.489004	0.99186	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	.	.	.	5.93	5.93	0.95920	.	0.229124	0.22320	N	0.061611	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	X	635;635;415	.	ENSP00000355082:S635X	S	-	2	0	PCDH18	138670789	0.917000	0.31117	0.998000	0.56505	0.992000	0.81027	3.384000	0.52478	2.802000	0.96397	0.563000	0.77884	TCA		0.443	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		16	215	1	0	1.5739e-10	0.004007	2.30838e-10	16	215				
RXFP1	59350	broad.mit.edu	37	4	159568212	159568212	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:159568212G>A	ENST00000307765.5	+	16	1866	c.1615G>A	c.(1615-1617)Ggt>Agt	p.G539S	RXFP1_ENST00000343542.5_Missense_Mutation_p.G491S|RXFP1_ENST00000460056.2_Missense_Mutation_p.G458S|RXFP1_ENST00000448688.2_Missense_Mutation_p.G434S|RXFP1_ENST00000470033.1_Missense_Mutation_p.G506S	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	539					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.G539S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTGGATTACTGGTTTTATAGT	0.358																																							uc003ipz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1615-1617)GGT>AGT		relaxin/insulin-like family peptide receptor 1							100.0	94.0	96.0					4																	159568212		1839	4087	5926	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568212G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1615G>A	4.37:g.159568212G>A	ENSP00000303248:p.Gly539Ser					RXFP1_uc011cja.1_Missense_Mutation_p.G434S|RXFP1_uc010iqo.2_Missense_Mutation_p.G491S|RXFP1_uc011cjb.1_Missense_Mutation_p.G437S|RXFP1_uc010iqk.2_Missense_Mutation_p.G407S|RXFP1_uc011cjc.1_Missense_Mutation_p.G458S|RXFP1_uc011cjd.1_Missense_Mutation_p.G458S|RXFP1_uc010iql.2_Missense_Mutation_p.G383S|RXFP1_uc011cje.1_Missense_Mutation_p.G566S|RXFP1_uc010iqm.2_Missense_Mutation_p.G506S|RXFP1_uc011cjf.1_Missense_Mutation_p.G408S|RXFP1_uc010iqn.2_Missense_Mutation_p.G484S	p.G539S	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1697	+	all_hematologic(180;0.24)	Renal(120;0.0854)	539			Helical; Name=4; (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1615G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828471	0.90955	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.48260	1.515	0.80722	D	1	D;D;D;D;D;P;D;D	0.89917	0.999;0.999;1.0;0.997;0.999;0.752;1.0;0.999	D;D;D;D;D;P;D;D	0.97110	0.999;0.999;1.0;0.977;0.998;0.627;1.0;0.999	T	0.18999	-1.0319	10	0.20519	T	0.43	.	19.6199	0.95651	0.0:0.0:1.0:0.0	.	550;566;434;491;506;458;409;539	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	S	458;539;434;491;506;409	ENSP00000423306:G458S;ENSP00000303248:G539S;ENSP00000414885:G434S;ENSP00000345889:G491S;ENSP00000420712:G506S	ENSP00000303248:G539S	G	+	1	0	RXFP1	159787662	1.000000	0.71417	0.165000	0.22776	0.612000	0.37316	9.777000	0.99008	2.633000	0.89246	0.650000	0.86243	GGT		0.358	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		11	59	0	0	0	0.008291	0	11	59				
FSTL5	56884	broad.mit.edu	37	4	163032464	163032464	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:163032464C>A	ENST00000306100.5	-	2	521	c.85G>T	c.(85-87)Ggc>Tgc	p.G29C	FSTL5_ENST00000379164.4_Missense_Mutation_p.G29C|FSTL5_ENST00000536695.1_Missense_Mutation_p.G29C|FSTL5_ENST00000427802.2_Missense_Mutation_p.G29C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	29						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G29C(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GATTTAAGGCCATATCCTCCT	0.408																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(85-87)GGC>TGC		follistatin-like 5 isoform a							177.0	169.0	172.0					4																	163032464		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:163032464C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.85G>T	4.37:g.163032464C>A	ENSP00000305334:p.Gly29Cys					FSTL5_uc003iqi.2_Missense_Mutation_p.G29C|FSTL5_uc010iqv.2_Missense_Mutation_p.G29C	p.G29C	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	521	-	all_hematologic(180;0.24)		29					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.85G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250880	0.39797	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.73897	-0.77;-0.76;-0.79;-0.76	5.51	4.67	0.58626	.	0.674569	0.13579	N	0.377503	T	0.65176	0.2666	L	0.36672	1.1	0.31577	N	0.655615	P;P;P	0.44309	0.832;0.8;0.698	B;B;B	0.39562	0.249;0.303;0.159	T	0.70204	-0.4936	10	0.72032	D	0.01	.	10.4636	0.44594	0.0:0.9099:0.0:0.0901	.	29;29;29	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	C	29	ENSP00000305334:G29C;ENSP00000368462:G29C;ENSP00000389270:G29C;ENSP00000440409:G29C	ENSP00000305334:G29C	G	-	1	0	FSTL5	163251914	0.998000	0.40836	0.997000	0.53966	0.873000	0.50193	2.399000	0.44495	1.478000	0.48253	0.585000	0.79938	GGC		0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		15	85	1	0	4.7546e-09	0.004007	6.62633e-09	15	85				
CPE	1363	broad.mit.edu	37	4	166385731	166385731	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:166385731C>A	ENST00000402744.4	+	2	777	c.497C>A	c.(496-498)gCg>gAg	p.A166E		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	166					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.A166E(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAGAAGGCAGCGTCTCAGGTG	0.463											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003irg.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(496-498)GCG>GAG		carboxypeptidase E preproprotein	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						110.0	95.0	100.0					4																	166385731		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166385731C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.497C>A	4.37:g.166385731C>A	ENSP00000386104:p.Ala166Glu		OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1854		p.A166E	NM_001873	NP_001864	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	2	774	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	166					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.497C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212856	0.58452	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.03272	3.99;3.99;3.99;3.99	5.3	5.3	0.74995	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	M	0.70275	2.135	0.80722	D	1	D	0.65815	0.995	P	0.62740	0.906	T	0.01001	-1.1485	10	0.33141	T	0.24	-10.2792	18.9352	0.92583	0.0:1.0:0.0:0.0	.	166	P16870	CBPE_HUMAN	E	54;166;130;54;54	ENSP00000424830:A54E;ENSP00000386104:A166E;ENSP00000416601:A54E;ENSP00000423699:A54E	ENSP00000261510:A130E	A	+	2	0	CPE	166605181	1.000000	0.71417	0.689000	0.30133	0.735000	0.41995	7.572000	0.82409	2.483000	0.83821	0.585000	0.79938	GCG		0.463	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		8	22	1	0	1.12685e-05	0.004482	1.36427e-05	8	22				
DDX60L	91351	broad.mit.edu	37	4	169322029	169322029	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:169322029C>T	ENST00000511577.1	-	26	3686	c.3439G>A	c.(3439-3441)Gtc>Atc	p.V1147I	DDX60L_ENST00000505890.1_Missense_Mutation_p.V1147I|DDX60L_ENST00000260184.7_Missense_Mutation_p.V1147I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1147							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.V1147I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTGCAAAGACATAACTATGA	0.368																																							uc003irq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3439-3441)GTC>ATC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							116.0	112.0	113.0					4																	169322029		1881	4111	5992	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169322029C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3439G>A	4.37:g.169322029C>T	ENSP00000422423:p.Val1147Ile					DDX60L_uc003irr.1_Missense_Mutation_p.V1147I|DDX60L_uc003irs.1_Missense_Mutation_p.V842I	p.V1147I	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	26	3660	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1147					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.3439G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.702|1.702	-0.501290|-0.501290	0.04261|0.04261	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000514580|ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	.|T;T;T;T	.|0.17054	.|2.3;2.3;2.3;2.92	2.69|2.69	-1.86|-1.86	0.07760|0.07760	.|.	.|3.162460	.|0.02170	.|N	.|0.059560	T|T	0.08358|0.08358	0.0208|0.0208	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.0;0.001	T|T	0.30475|0.30475	-0.9977|-0.9977	5|10	.|0.36615	.|T	.|0.2	.|.	7.3377|7.3377	0.26619|0.26619	0.0:0.558:0.0:0.442|0.0:0.558:0.0:0.442	.|.	.|1147;1147;1147	.|E9PAP8;D6R906;Q5H9U9	.|.;.;DDX6L_HUMAN	Y|I	34|1147;1147;1147;843	.|ENSP00000260184:V1147I;ENSP00000422423:V1147I;ENSP00000422202:V1147I;ENSP00000421026:V843I	.|ENSP00000260184:V1147I	C|V	-|-	2|1	0|0	DDX60L|DDX60L	169558604|169558604	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.924000|-1.924000	0.01565|0.01565	-0.780000|-0.780000	0.04553|0.04553	-1.695000|-1.695000	0.00724|0.00724	TGT|GTC		0.368	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		9	57	0	0	0	0.004482	0	9	57				
HAND2	9464	broad.mit.edu	37	4	174448523	174448523	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:174448523C>T	ENST00000359562.4	-	2	1498	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2_ENST00000505300.1_5'Flank	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	187					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E187K(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCAAGATTTCGTTCTGGACA	0.572																																							uc003ith.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(559-561)GAA>AAA		basic helix-loop-helix transcription factor							94.0	100.0	98.0					4																	174448523		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174448523C>T	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.559G>A	4.37:g.174448523C>T	ENSP00000352565:p.Glu187Lys					HAND2_uc003itg.1_Missense_Mutation_p.R152Q	p.E187K	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	2	1497	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	187					B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.559G>A	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983227	0.74474	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.96802	-4.13	5.78	5.78	0.91487	.	0.059006	0.64402	D	0.000003	D	0.95105	0.8414	L	0.54323	1.7	0.80722	D	1	B	0.16802	0.019	B	0.10450	0.005	D	0.91315	0.5077	10	0.51188	T	0.08	-12.1062	20.0051	0.97433	0.0:1.0:0.0:0.0	.	187	P61296	HAND2_HUMAN	K	187;156;135	ENSP00000352565:E187K	ENSP00000352565:E187K	E	-	1	0	HAND2	174685098	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.958000	0.76025	2.739000	0.93911	0.561000	0.74099	GAA		0.572	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			9	137	0	0	0	0.004482	0	9	137				
ASB5	140458	broad.mit.edu	37	4	177142722	177142722	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:177142722A>T	ENST00000296525.3	-	4	527	c.414T>A	c.(412-414)acT>acA	p.T138T	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.T85T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	138					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.T138T(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGAATAACGGAGTCACGCCAT	0.458																																							uc003iuq.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(412-414)ACT>ACA		ankyrin repeat and SOCS box-containing protein							120.0	108.0	112.0					4																	177142722		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177142722A>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.414T>A	4.37:g.177142722A>T						ASB5_uc003iup.1_Silent_p.T85T	p.T138T	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	430	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	138			ANK 3.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.414T>A	CCDS3827.1																																																																																				0.458	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			14	35	0	0	0	0.00245	0	14	35				
TENM3	55714	broad.mit.edu	37	4	183522166	183522166	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:183522166A>T	ENST00000511685.1	+	4	724	c.601A>T	c.(601-603)Act>Tct	p.T201S	TENM3_ENST00000406950.2_Missense_Mutation_p.T201S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	201	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T201S(1)									TCCATCCATCACTTCTCTCAA	0.562																																							uc003ivd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(601-603)ACT>TCT		odz, odd Oz/ten-m homolog 3							138.0	148.0	145.0					4																	183522166		2009	4181	6190	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183522166A>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.601A>T	4.37:g.183522166A>T	ENSP00000424226:p.Thr201Ser						p.T201S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	3	638	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	201			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.601A>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.251279	0.39797	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.28255	1.62;1.62;1.62	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.42832	0.1220	N	0.25647	0.755	0.46260	D	0.998959	D	0.57257	0.979	D	0.71414	0.973	T	0.26395	-1.0104	9	0.40728	T	0.16	.	16.1015	0.81175	1.0:0.0:0.0:0.0	.	201	Q9P273	TEN3_HUMAN	S	201;201;59	ENSP00000424226:T201S;ENSP00000385276:T201S;ENSP00000426914:T59S	ENSP00000385276:T201S	T	+	1	0	ODZ3	183759160	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.137000	0.77295	2.194000	0.70268	0.455000	0.32223	ACT		0.562	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			19	193	0	0	0	0.002299	0	19	193				
TENM3	55714	broad.mit.edu	37	4	183676381	183676381	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:183676381A>G	ENST00000511685.1	+	22	4984	c.4861A>G	c.(4861-4863)Agt>Ggt	p.S1621G	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1621G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1621					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1621G(1)									AGCCACTAAAAGTGATGAAAC	0.313																																							uc003ivd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4861-4863)AGT>GGT		odz, odd Oz/ten-m homolog 3							72.0	70.0	70.0					4																	183676381		1869	4108	5977	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183676381A>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4861A>G	4.37:g.183676381A>G	ENSP00000424226:p.Ser1621Gly					ODZ3_uc003ive.1_Missense_Mutation_p.S1034G	p.S1621G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	21	4898	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1621			YD 3.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4861A>G	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180066	0.38511	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.18657	2.2;2.2	5.15	5.15	0.70609	.	.	.	.	.	T	0.28699	0.0711	M	0.76574	2.34	0.80722	D	1	B	0.29037	0.231	B	0.29176	0.099	T	0.08006	-1.0743	9	0.54805	T	0.06	.	15.1411	0.72612	1.0:0.0:0.0:0.0	.	1621	Q9P273	TEN3_HUMAN	G	1621	ENSP00000424226:S1621G;ENSP00000385276:S1621G	ENSP00000385276:S1621G	S	+	1	0	ODZ3	183913375	1.000000	0.71417	0.999000	0.59377	0.345000	0.29048	9.135000	0.94478	2.160000	0.67779	0.377000	0.23210	AGT		0.313	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			3	33	0	0	0	0.004672	0	3	33				
STOX2	56977	broad.mit.edu	37	4	184930348	184930348	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:184930348G>C	ENST00000308497.4	+	3	1792	c.357G>C	c.(355-357)acG>acC	p.T119T	STOX2_ENST00000438269.1_Silent_p.T119T	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	119					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.T119T(1)|p.T143T(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGCGGCACACGCTGAACACGC	0.438																																							uc003ivz.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(355-357)ACG>ACC		storkhead box 2							53.0	48.0	49.0					4																	184930348		1919	4155	6074	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184930348G>C	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.357G>C	4.37:g.184930348G>C						STOX2_uc003iwa.1_5'UTR	p.T119T	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1792	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	119					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.357G>C	CCDS47167.1																																																																																				0.438	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	19	0	0	0	0.009096	0	4	19				
FAT1	2195	broad.mit.edu	37	4	187527368	187527368	+	Splice_Site	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:187527368C>G	ENST00000441802.2	-	17	10416		c.e17-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACCTGAAATCTTTTCAGGCA	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Unknown(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.e17-1		FAT tumor suppressor 1 precursor							91.0	89.0	90.0					4																	187527368		1989	4180	6169	SO:0001630	splice_region_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187527368C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10207-1G>C	4.37:g.187527368C>G		HNSCC(5;0.00058)					p.I3403_splice	NM_005245	NP_005236	Q14517	FAT1_HUMAN			17	10395	-									Splice_Site	SNP	ENST00000441802.2	37	c.10207_splice	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589171	0.86851	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2092	0.93747	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187764362	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.765000	0.68834	2.540000	0.85666	0.462000	0.41574	.		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	5	40	0	0	0	0.000602	0	5	40				
TRIML2	205860	broad.mit.edu	37	4	189012860	189012860	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:189012860C>G	ENST00000512729.1	-	7	1205	c.831G>C	c.(829-831)gcG>gcC	p.A277A	TRIML2_ENST00000326754.3_Silent_p.A302A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	277	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.A277A(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGCTGCCCTTCGCGTCTGCAG	0.617																																							uc003izl.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(829-831)GCG>GCC		tripartite motif family-like 2							164.0	165.0	165.0					4																	189012860		2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189012860C>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.831G>C	4.37:g.189012860C>G						TRIML2_uc003izj.1_Silent_p.A105A|TRIML2_uc003izk.1_Silent_p.A85A|TRIML2_uc011cle.1_Silent_p.A352A	p.A277A	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	867	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	277			B30.2/SPRY.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.831G>C	CCDS3850.1																																																																																				0.617	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		19	175	0	0	0	0.008871	0	19	175				
TRIML1	339976	broad.mit.edu	37	4	189061043	189061043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:189061043G>T	ENST00000332517.3	+	1	471	c.331G>T	c.(331-333)Ggt>Tgt	p.G111C	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	111					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G111C(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGACGAGCAGGGTGGAAGCGC	0.622																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(331-333)GGT>TGT		tripartite motif family-like 1							47.0	45.0	46.0					4																	189061043		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061043G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.331G>T	4.37:g.189061043G>T	ENSP00000327738:p.Gly111Cys						p.G111C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	446	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	111					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.331G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159302	0.21454	.	.	ENSG00000184108	ENST00000332517	T	0.61040	0.14	5.06	1.4	0.22301	.	0.585786	0.16222	N	0.224002	T	0.45276	0.1334	L	0.51422	1.61	0.09310	N	1	D	0.57257	0.979	B	0.40101	0.319	T	0.35226	-0.9797	10	0.46703	T	0.11	-4.8019	7.0318	0.24970	0.761:0.0:0.239:0.0	.	111	Q8N9V2	TRIML_HUMAN	C	111	ENSP00000327738:G111C	ENSP00000327738:G111C	G	+	1	0	TRIML1	189298037	0.000000	0.05858	0.159000	0.22649	0.024000	0.10985	0.271000	0.18626	0.133000	0.18654	-0.291000	0.09656	GGT		0.622	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		4	22	1	0	0.00909568	0.009096	0.00983662	4	22				
TRIML1	339976	broad.mit.edu	37	4	189068295	189068295	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr4:189068295G>T	ENST00000332517.3	+	6	1316	c.1176G>T	c.(1174-1176)tcG>tcT	p.S392S	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S392S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCTGGGTCTCGTCACCTTTGA	0.493																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1174-1176)TCG>TCT		tripartite motif family-like 1							140.0	127.0	132.0					4																	189068295		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068295G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1176G>T	4.37:g.189068295G>T						TRIML1_uc003izn.1_Silent_p.S116S	p.S392S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1291	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	392			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1176G>T	CCDS3851.1																																																																																				0.493	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		34	109	1	0	1.26612e-14	0.003271	2.0417e-14	34	109				
TRIP13	9319	broad.mit.edu	37	5	916038	916038	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:916038G>T	ENST00000166345.3	+	12	1509	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	385					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.G385C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GGGCCTCAGCGGCCGGGTCCT	0.542																																							uc003jbr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)GGC>TGC		thyroid hormone receptor interactor 13							156.0	170.0	165.0					5																	916038		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:916038G>T	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1153G>T	5.37:g.916038G>T	ENSP00000166345:p.Gly385Cys						p.G385C	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		12	1263	+			385					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.1153G>T	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.942377	0.73672	.	.	ENSG00000071539	ENST00000166345	D	0.95588	-3.75	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	H	0.94385	3.53	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.99581	1.0973	10	0.87932	D	0	-8.8816	17.703	0.88301	0.0:0.0:1.0:0.0	.	385	Q15645	PCH2_HUMAN	C	385	ENSP00000166345:G385C	ENSP00000166345:G385C	G	+	1	0	TRIP13	969038	1.000000	0.71417	0.954000	0.39281	0.562000	0.35680	7.925000	0.87563	2.533000	0.85409	0.561000	0.74099	GGC		0.542	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		14	306	1	0	2.61681e-11	0.00245	3.89738e-11	14	306				
IRX1	79192	broad.mit.edu	37	5	3599391	3599391	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:3599391C>G	ENST00000302006.3	+	2	381	c.329C>G	c.(328-330)gCa>gGa	p.A110G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	110					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A110G(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCACCTTCGCAGCCCACACG	0.647																																							uc003jde.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(328-330)GCA>GGA		iroquois homeobox protein 1							39.0	43.0	42.0					5																	3599391		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599391C>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.329C>G	5.37:g.3599391C>G	ENSP00000305244:p.Ala110Gly						p.A110G	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	381	+			110					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.329C>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635668	0.29068	.	.	ENSG00000170549	ENST00000302006	T	0.59502	0.26	4.51	3.64	0.41730	.	0.178141	0.47852	D	0.000218	T	0.55816	0.1944	M	0.70595	2.14	0.58432	D	0.99999	B	0.33964	0.434	B	0.36378	0.223	T	0.52238	-0.8602	10	0.23302	T	0.38	.	12.3992	0.55404	0.0:0.9165:0.0:0.0835	.	110	P78414	IRX1_HUMAN	G	110	ENSP00000305244:A110G	ENSP00000305244:A110G	A	+	2	0	IRX1	3652391	1.000000	0.71417	0.817000	0.32601	0.001000	0.01503	5.788000	0.69020	0.990000	0.38787	-0.136000	0.14681	GCA		0.647	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		4	84	0	0	0	0.009096	0	4	84				
PAPD7	11044	broad.mit.edu	37	5	6742603	6742603	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:6742603G>T	ENST00000230859.6	+	5	388	c.259G>T	c.(259-261)Gta>Tta	p.V87L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	317	Ser-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.V87L(1)|p.V87I(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCTTTACAGGTACCAATAAT	0.428																																					NSCLC(7;212 333 5667 23379 46547)	NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(1)	1						c.(259-261)GTA>TTA		DNA polymerase sigma							58.0	60.0	60.0					5																	6742603		2203	4300	6503	SO:0001630	splice_region_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6742603G>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.259-1G>T	5.37:g.6742603G>T						PAPD7_uc011cmn.1_Missense_Mutation_p.V78L	p.V87L	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			5	388	+			87					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.259G>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890026	0.91889	.	.	ENSG00000112941	ENST00000230859	T	0.69306	-0.39	5.19	5.19	0.71726	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.92923	3.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.89327	0.3644	9	.	.	.	-0.2444	16.9109	0.86139	0.0:0.0:1.0:0.0	.	87;87	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	L	87	ENSP00000230859:V87L	.	V	+	1	0	PAPD7	6795603	1.000000	0.71417	0.923000	0.36655	0.942000	0.58702	8.832000	0.92079	2.418000	0.82041	0.655000	0.94253	GTA		0.428	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	Missense_Mutation	15	32	1	0	1.99824e-07	0.00499	2.59686e-07	15	32				
ADCY2	108	broad.mit.edu	37	5	7520898	7520898	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:7520898C>T	ENST00000338316.4	+	3	545	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	152					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.P152P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCATGCTGCCCTTCAACATGC	0.522																																							uc003jdz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(454-456)CCC>CCT		adenylate cyclase 2							193.0	131.0	152.0					5																	7520898		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520898C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.456C>T	5.37:g.7520898C>T							p.P152P	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			3	523	+			152			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.456C>T	CCDS3872.2																																																																																				0.522	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	124	0	0	0	0.001168	0	6	124				
SEMA5A	9037	broad.mit.edu	37	5	9066613	9066613	+	Missense_Mutation	SNP	G	G	T	rs199817743		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:9066613G>T	ENST00000382496.5	-	17	2884	c.2219C>A	c.(2218-2220)cCg>cAg	p.P740Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	740	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.P740Q(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCAAATTCGGATCAGCCAG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17681	0.0		0.001	False		,,,				2504	0.0						uc003jek.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2218-2220)CCG>CAG		semaphorin 5A precursor							163.0	155.0	158.0					5																	9066613		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066613G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2219C>A	5.37:g.9066613G>T	ENSP00000371936:p.Pro740Gln						p.P740Q	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2931	-			740			TSP type-1 4.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2219C>A	CCDS3875.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.109014	0.94292	.	.	ENSG00000112902	ENST00000382496	T	0.35973	1.28	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	L	0.52905	1.665	0.80722	D	1	D	0.64830	0.994	D	0.71414	0.973	T	0.56202	-0.8018	10	0.87932	D	0	.	17.5918	0.87999	0.0:0.0:1.0:0.0	.	740	Q13591	SEM5A_HUMAN	Q	740	ENSP00000371936:P740Q	ENSP00000371936:P740Q	P	-	2	0	SEMA5A	9119613	1.000000	0.71417	0.693000	0.30195	0.943000	0.58893	7.608000	0.82898	2.761000	0.94854	0.591000	0.81541	CCG		0.557	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			52	165	1	0	1.4374e-25	0.00361	2.59203e-25	52	165				
CCT5	22948	broad.mit.edu	37	5	10258573	10258573	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:10258573G>T	ENST00000280326.4	+	6	1219	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	CCT5_ENST00000506600.1_Missense_Mutation_p.D174Y|CCT5_ENST00000515390.1_Missense_Mutation_p.D212Y|CCT5_ENST00000503026.1_Missense_Mutation_p.D246Y|CCT5_ENST00000515676.1_Missense_Mutation_p.D229Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	267					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.D267Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GCATAAGCTGGATGTGACCTC	0.393																																							uc003jeq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(799-801)GAT>TAT		chaperonin containing TCP1, subunit 5 (epsilon)							116.0	109.0	112.0					5																	10258573		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10258573G>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.799G>T	5.37:g.10258573G>T	ENSP00000280326:p.Asp267Tyr					CCT5_uc011cmq.1_Missense_Mutation_p.D114Y|CCT5_uc003jer.2_Missense_Mutation_p.D267Y|CCT5_uc010its.2_Missense_Mutation_p.D267Y|CCT5_uc011cmr.1_Missense_Mutation_p.D212Y|CCT5_uc011cms.1_Missense_Mutation_p.D229Y|CCT5_uc011cmt.1_Missense_Mutation_p.D174Y	p.D267Y	NM_012073	NP_036205	P48643	TCPE_HUMAN			6	970	+			267					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.799G>T	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965222	0.74131	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.88704	2.975	0.80722	D	1	B;P;P;P;P;P	0.49090	0.411;0.544;0.875;0.919;0.919;0.919	B;P;P;P;P;P	0.58130	0.256;0.455;0.594;0.833;0.833;0.833	D	0.86308	0.1684	10	0.87932	D	0	-31.0279	18.3655	0.90389	0.0:0.0:1.0:0.0	.	174;212;116;265;267;267	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	Y	267;246;212;240;229;174	ENSP00000280326:D267Y;ENSP00000423318:D246Y;ENSP00000426923:D212Y;ENSP00000427297:D229Y;ENSP00000423052:D174Y	ENSP00000280326:D267Y	D	+	1	0	CCT5	10311573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.262000	0.95591	2.561000	0.86390	0.650000	0.86243	GAT		0.393	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			9	93	1	0	0.00448238	0.004482	0.00488872	9	93				
CTNND2	1501	broad.mit.edu	37	5	11236895	11236895	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:11236895G>C	ENST00000304623.8	-	10	1858	c.1669C>G	c.(1669-1671)Cag>Gag	p.Q557E	CTNND2_ENST00000359640.2_Missense_Mutation_p.Q557E|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q124E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q220E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q466E|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	557					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q557K(1)|p.Q557E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAACATCTGAATCACTTCC	0.483																																							uc003jfa.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1669-1671)CAG>GAG		catenin (cadherin-associated protein), delta 2							116.0	114.0	115.0					5																	11236895		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236895G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1669C>G	5.37:g.11236895G>C	ENSP00000307134:p.Gln557Glu					CTNND2_uc010itt.2_Missense_Mutation_p.Q466E|CTNND2_uc011cmy.1_Missense_Mutation_p.Q220E|CTNND2_uc011cmz.1_Missense_Mutation_p.Q124E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.Q124E	p.Q557E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1814	-			557			ARM 2.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1669C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998952	0.74818	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	N	0.20766	0.605	0.80722	D	1	D;D;D	0.54964	0.969;0.969;0.965	D;D;D	0.64877	0.93;0.93;0.914	T	0.38824	-0.9643	10	0.14252	T	0.57	-16.5153	20.0734	0.97734	0.0:0.0:1.0:0.0	.	220;124;557	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	557;557;466;124;220	ENSP00000307134:Q557E;ENSP00000352661:Q557E;ENSP00000426510:Q466E;ENSP00000391155:Q124E;ENSP00000426887:Q220E	ENSP00000307134:Q557E	Q	-	1	0	CTNND2	11289895	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.869000	0.99810	2.751000	0.94390	0.555000	0.69702	CAG		0.483	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		52	118	0	0	0	0.00361	0	52	118				
CDH18	1016	broad.mit.edu	37	5	19747068	19747068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:19747068G>T	ENST00000507958.1	-	6	1496	c.506C>A	c.(505-507)cCt>cAt	p.P169H	CDH18_ENST00000502796.1_Missense_Mutation_p.P169H|CDH18_ENST00000511273.1_Missense_Mutation_p.P169H|CDH18_ENST00000274170.4_Missense_Mutation_p.P169H|CDH18_ENST00000382275.1_Missense_Mutation_p.P169H|CDH18_ENST00000506372.1_Missense_Mutation_p.P169H			Q13634	CAD18_HUMAN	cadherin 18, type 2	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P169H(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGACATTTCAGGCACAGTAAC	0.328																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(505-507)CCT>CAT		cadherin 18, type 2 preproprotein							117.0	116.0	116.0					5																	19747068		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747068G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.506C>A	5.37:g.19747068G>T	ENSP00000425093:p.Pro169His					CDH18_uc003jgd.2_Missense_Mutation_p.P169H|CDH18_uc011cnm.1_Missense_Mutation_p.P169H	p.P169H	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	883	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		169			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.506C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073382	0.76415	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.67	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.81179	2.53	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.76937	-0.2774	9	.	.	.	.	16.1292	0.81414	0.0:0.0:1.0:0.0	.	169;169	B4DHG6;Q13634	.;CAD18_HUMAN	H	169;169;169;169;169;169;115;169	ENSP00000371710:P169H;ENSP00000425093:P169H;ENSP00000274170:P169H;ENSP00000424931:P169H;ENSP00000422138:P169H;ENSP00000427383:P115H;ENSP00000425854:P169H	.	P	-	2	0	CDH18	19782825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.141000	0.66446	0.591000	0.81541	CCT		0.328	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		32	101	1	0	3.86903e-22	0.002836	6.7785e-22	32	101				
CDH12	1010	broad.mit.edu	37	5	21854810	21854810	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:21854810G>T	ENST00000382254.1	-	7	1702	c.616C>A	c.(616-618)Caa>Aaa	p.Q206K	CDH12_ENST00000504376.2_Missense_Mutation_p.Q206K|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q206K(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAATAAGGTTGTCCCTGAAGA	0.393										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(616-618)CAA>AAA		cadherin 12, type 2 preproprotein							111.0	109.0	110.0					5																	21854810		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854810G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.616C>A	5.37:g.21854810G>T	ENSP00000371689:p.Gln206Lys	HNSCC(59;0.17)				CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.Q206K	p.Q206K	NM_004061	NP_004052	P55289	CAD12_HUMAN			4	1074	-			206			Extracellular (Potential).|Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.616C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107115	0.94292	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	T;T	0.50277	0.75;0.75	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	N	0.25031	0.7	0.80722	D	1	P	0.50943	0.94	D	0.67103	0.949	T	0.61347	-0.7081	10	0.72032	D	0.01	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	206	P55289	CAD12_HUMAN	K	206	ENSP00000423577:Q206K;ENSP00000371689:Q206K	ENSP00000371689:Q206K	Q	-	1	0	CDH12	21890567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.748000	0.98867	2.684000	0.91462	0.650000	0.86243	CAA		0.393	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		29	59	1	0	2.65835e-16	0.007291	4.40673e-16	29	59				
CDH12	1010	broad.mit.edu	37	5	21975201	21975201	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:21975201C>A	ENST00000382254.1	-	6	1611	c.525G>T	c.(523-525)gtG>gtT	p.V175V	CDH12_ENST00000504376.2_Splice_Site_p.V175V|CDH12_ENST00000522262.1_Splice_Site_p.V175V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V175V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTACTCACCCACAGGAGACA	0.358										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(523-525)GTG>GTT		cadherin 12, type 2 preproprotein							76.0	78.0	78.0					5																	21975201		2043	3889	5932	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975201C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.526+1G>T	5.37:g.21975201C>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.V175V|CDH12_uc003jgk.2_Silent_p.V175V	p.V175V	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	983	-			175			Extracellular (Potential).|Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.525G>T	CCDS3890.1																																																																																				0.358	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Silent	57	116	1	0	4.83677e-39	0.00361	9.17319e-39	57	116				
PRDM9	56979	broad.mit.edu	37	5	23526486	23526486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:23526486C>A	ENST00000296682.3	+	11	1471	c.1289C>A	c.(1288-1290)cCc>cAc	p.P430H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	430					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)	p.P430H(1)		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						CCAGAGAATCCCTGCCCAGGG	0.453										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1288-1290)CCC>CAC		PR domain containing 9							95.0	93.0	94.0					5																	23526486		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526486C>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.1289C>A	5.37:g.23526486C>A	ENSP00000296682:p.Pro430His	HNSCC(3;0.000094)					p.P430H	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1471	+			430					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1289C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526580	0.27299	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08984	3.03	3.24	-2.88	0.05682	.	1.210490	0.06241	N	0.690518	T	0.07908	0.0198	L	0.47016	1.485	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.39440	-0.9614	10	0.49607	T	0.09	-0.9046	5.4986	0.16817	0.1351:0.4615:0.0:0.4034	.	430	Q9NQV7	PRDM9_HUMAN	H	430;224	ENSP00000296682:P430H	ENSP00000253473:P224H	P	+	2	0	PRDM9	23562243	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.470000	0.06639	-0.997000	0.03450	-1.521000	0.00933	CCC		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		46	114	1	0	2.51966e-14	0.00361	4.0127e-14	46	114				
CDH10	1008	broad.mit.edu	37	5	24491822	24491822	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:24491822C>G	ENST00000264463.4	-	11	2246	c.1739G>C	c.(1738-1740)gGc>gCc	p.G580A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	580	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G580A(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTCAGTGTGCCTGTGCTGCT	0.498										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1738-1740)GGC>GCC		cadherin 10, type 2 preproprotein							148.0	126.0	133.0					5																	24491822		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491822C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1739G>C	5.37:g.24491822C>G	ENSP00000264463:p.Gly580Ala	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G580A	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2071	-			580			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1739G>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558461	0.45590	.	.	ENSG00000040731	ENST00000264463	T	0.46819	0.86	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.099783	0.64402	D	0.000002	T	0.48857	0.1523	L	0.41710	1.295	0.50632	D	0.999884	B	0.32040	0.353	B	0.40134	0.32	T	0.28038	-1.0056	10	0.27785	T	0.31	.	19.5254	0.95203	0.0:1.0:0.0:0.0	.	580	Q9Y6N8	CAD10_HUMAN	A	580	ENSP00000264463:G580A	ENSP00000264463:G580A	G	-	2	0	CDH10	24527579	1.000000	0.71417	0.802000	0.32245	0.015000	0.08874	3.979000	0.56888	2.857000	0.98124	0.650000	0.86243	GGC		0.498	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	81	0	0	0	0.00245	0	13	81				
CDH10	1008	broad.mit.edu	37	5	24537761	24537761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:24537761C>A	ENST00000264463.4	-	3	761	c.254G>T	c.(253-255)gGa>gTa	p.G85V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G85V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATCCATCTCCTTTATCTTG	0.363										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(253-255)GGA>GTA		cadherin 10, type 2 preproprotein							61.0	60.0	60.0					5																	24537761		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537761C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.254G>T	5.37:g.24537761C>A	ENSP00000264463:p.Gly85Val	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G85V	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	586	-			85			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.254G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531119	0.85706	.	.	ENSG00000040731	ENST00000264463	T	0.65178	-0.14	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87641	0.2522	10	0.87932	D	0	.	19.2219	0.93801	0.0:1.0:0.0:0.0	.	85	Q9Y6N8	CAD10_HUMAN	V	85	ENSP00000264463:G85V	ENSP00000264463:G85V	G	-	2	0	CDH10	24573518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.600000	0.61083	2.791000	0.96007	0.563000	0.77884	GGA		0.363	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		11	57	1	0	3.07112e-06	0.000978	3.80187e-06	11	57				
CDH9	1007	broad.mit.edu	37	5	26881389	26881389	+	Silent	SNP	C	C	T	rs147182231		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:26881389C>T	ENST00000231021.4	-	12	2398	c.2226G>A	c.(2224-2226)ggG>ggA	p.G742G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	742					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G742G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGGAATCATTCCCTTCATAGG	0.418																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	2	Substitution - coding silent(2)	p.G742G(1)	lung(1)|skin(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2224-2226)GGG>GGA		cadherin 9, type 2 preproprotein							135.0	126.0	129.0					5																	26881389		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881389C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2226G>A	5.37:g.26881389C>T						CDH9_uc011cnv.1_Silent_p.G335G	p.G742G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2395	-			742			Cytoplasmic (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.2226G>A	CCDS3893.1																																																																																				0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	130	0	0	0	0.001984	0	6	130				
NPR3	4883	broad.mit.edu	37	5	32712561	32712561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:32712561G>T	ENST00000265074.8	+	1	1022	c.679G>T	c.(679-681)Gag>Tag	p.E227*	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Nonsense_Mutation_p.E227*|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	227					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.E227*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTTCCAGGAGGAGGGTTTGCA	0.587																																							uc003jhv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(679-681)GAG>TAG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						82.0	92.0	89.0					5																	32712561		2045	4195	6240	SO:0001587	stop_gained	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712561G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.679G>T	5.37:g.32712561G>T	ENSP00000265074:p.Glu227*					NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Nonsense_Mutation_p.E227*	p.E227*	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	897	+			227			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Nonsense_Mutation	SNP	ENST00000265074.8	37	c.679G>T	CCDS56357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.181212|8.181212	0.98693|0.98693	.|.	.|.	ENSG00000113389|ENSG00000113389	ENST00000265074;ENST00000415167|ENST00000507141	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.199566|.	0.41605|.	D|.	0.000848|.	.|T	.|0.72431	.|0.3459	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71424	.|-0.4597	.|4	0.07482|.	T|.	0.82|.	-14.7627|-14.7627	17.1926|17.1926	0.86883|0.86883	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	227|42	.|.	ENSP00000265074:E227X|.	E|G	+|+	1|2	0|0	NPR3|NPR3	32748318|32748318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	4.664000|4.664000	0.61540|0.61540	2.546000|2.546000	0.85860|0.85860	0.555000|0.555000	0.69702|0.69702	GAG|GGA		0.587	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		12	112	1	0	2.80697e-09	0.000978	3.93692e-09	12	112				
ADAMTS12	81792	broad.mit.edu	37	5	33658332	33658332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:33658332C>A	ENST00000504830.1	-	7	1482	c.1147G>T	c.(1147-1149)Gga>Tga	p.G383*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.G383*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G383*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGAGGGAGTCCCGAATCTTCA	0.507										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1147-1149)GGA>TGA		ADAM metallopeptidase with thrombospondin type 1							138.0	138.0	138.0					5																	33658332		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658332C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1147G>T	5.37:g.33658332C>A	ENSP00000422554:p.Gly383*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.G383*	p.G383*	NM_030955	NP_112217	P58397	ATS12_HUMAN			7	1310	-			383			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.1147G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	41	8.593289	0.98877	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	6.17	6.17	0.99709	.	0.046544	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000344847:G383X	G	-	1	0	ADAMTS12	33694089	1.000000	0.71417	0.895000	0.35142	0.417000	0.31264	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		43	148	1	0	5.59293e-11	0.006999	8.26594e-11	43	148				
IL7R	3575	broad.mit.edu	37	5	35876290	35876290	+	Missense_Mutation	SNP	T	T	A	rs200061456		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:35876290T>A	ENST00000303115.3	+	8	1211	c.1082T>A	c.(1081-1083)tTt>tAt	p.F361Y	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	361					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.F361Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAGAAAGCTTTGGAAGAGAT	0.532			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																uc003jjs.2		NA		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(1081-1083)TTT>TAT		interleukin 7 receptor precursor							87.0	83.0	84.0					5																	35876290		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876290T>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1082T>A	5.37:g.35876290T>A	ENSP00000306157:p.Phe361Tyr					IL7R_uc011cop.1_RNA	p.F361Y	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1171	+	all_lung(31;0.00015)		361			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1082T>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263626	0.23136	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.35605	1.92;1.3	5.6	3.12	0.35913	.	0.710361	0.13824	N	0.360164	T	0.28067	0.0692	L	0.59436	1.845	0.09310	N	0.999997	B	0.14438	0.01	B	0.12156	0.007	T	0.31530	-0.9940	10	0.10636	T	0.68	-12.3905	4.9546	0.14033	0.161:0.0878:0.0:0.7512	.	361	P16871	IL7RA_HUMAN	Y	361;127	ENSP00000306157:F361Y;ENSP00000420923:F127Y	ENSP00000306157:F361Y	F	+	2	0	IL7R	35912047	0.009000	0.17119	0.001000	0.08648	0.002000	0.02628	1.160000	0.31761	0.955000	0.37878	0.533000	0.62120	TTT		0.532	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			16	66	0	0	0	0.004007	0	16	66				
C5orf42	65250	broad.mit.edu	37	5	37162576	37162576	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:37162576T>C	ENST00000508244.1	-	37	7774	c.7681A>G	c.(7681-7683)Aca>Gca	p.T2561A	C5orf42_ENST00000274258.7_Missense_Mutation_p.T1441A|C5orf42_ENST00000425232.2_Missense_Mutation_p.T2561A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2561						integral component of membrane (GO:0016021)		p.T1441A(1)|p.T2561A(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGGTCTGTATTTGTACTT	0.299																																							uc011cpa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(7681-7683)ACA>GCA		hypothetical protein LOC65250							96.0	96.0	96.0					5																	37162576		2202	4300	6502	SO:0001583	missense	65250							g.chr5:37162576T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7681A>G	5.37:g.37162576T>C	ENSP00000421690:p.Thr2561Ala					C5orf42_uc011coy.1_Missense_Mutation_p.T1061A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.T1636A	p.T2561A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		38	7912	-	all_lung(31;0.000616)		2561					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.7681A>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588948	0.66105	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.57752	0.38;0.38;0.45;0.94	4.55	4.55	0.56014	.	0.000000	0.35495	N	0.003162	T	0.66703	0.2816	L	0.54323	1.7	0.37491	D	0.91637	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.73633	-0.3921	10	0.87932	D	0	.	12.7624	0.57372	0.0:0.0:0.0:1.0	.	2561;1441	E9PH94;Q9H799	.;CE042_HUMAN	A	2561;2561;1441;1609;1441	ENSP00000421690:T2561A;ENSP00000389014:T2561A;ENSP00000274258:T1441A;ENSP00000424223:T1609A	ENSP00000274258:T1441A	T	-	1	0	C5orf42	37198333	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.391000	0.66266	1.819000	0.53055	0.482000	0.46254	ACA		0.299	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		29	77	0	0	0	0.007291	0	29	77				
EGFLAM	133584	broad.mit.edu	37	5	38370546	38370546	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:38370546G>A	ENST00000354891.3	+	6	1040	c.694G>A	c.(694-696)Gac>Aac	p.D232N	EGFLAM_ENST00000322350.5_Missense_Mutation_p.D232N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	232	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.D232N(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGGCCCAGTGACATCATCCG	0.577																																					Colon(62;485 1295 3347 17454)	Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(694-696)GAC>AAC		EGF-like, fibronectin type III and laminin G							40.0	39.0	39.0					5																	38370546		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370546G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.694G>A	5.37:g.38370546G>A	ENSP00000346964:p.Asp232Asn					EGFLAM_uc003jlb.1_Missense_Mutation_p.D232N	p.D232N	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			6	1018	+	all_lung(31;0.000385)		232			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.694G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	1.564	-0.535879	0.04082	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.52983	0.64;0.64	5.82	-2.44	0.06502	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.640381	0.17696	N	0.165103	T	0.22820	0.0551	N	0.21373	0.66	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.30592	-0.9973	10	0.07175	T	0.84	.	6.2637	0.20915	0.3492:0.2062:0.4447:0.0	.	232;232	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	N	232	ENSP00000346964:D232N;ENSP00000313084:D232N	ENSP00000313084:D232N	D	+	1	0	EGFLAM	38406303	0.001000	0.12720	0.000000	0.03702	0.704000	0.40688	0.604000	0.24164	-0.928000	0.03761	-0.254000	0.11334	GAC		0.577	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		4	55	0	0	0	0.009096	0	4	55				
FYB	2533	broad.mit.edu	37	5	39202684	39202684	+	Missense_Mutation	SNP	G	G	T	rs201887284		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:39202684G>T	ENST00000351578.6	-	2	569	c.379C>A	c.(379-381)Cct>Act	p.P127T	FYB_ENST00000512982.1_Missense_Mutation_p.P127T|FYB_ENST00000505428.1_Missense_Mutation_p.P127T|FYB_ENST00000540520.1_Missense_Mutation_p.P137T|FYB_ENST00000515010.1_Missense_Mutation_p.P127T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	127					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P127T(3)|p.P137T(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGAAATGTAGGTTTGGAATCT	0.522																																							uc003jls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(379-381)CCT>ACT		FYN binding protein (FYB-120/130) isoform 2							113.0	107.0	109.0					5																	39202684		1913	4123	6036	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202684G>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.379C>A	5.37:g.39202684G>T	ENSP00000316460:p.Pro127Thr					FYB_uc003jlt.2_Missense_Mutation_p.P127T|FYB_uc003jlu.2_Missense_Mutation_p.P127T|FYB_uc011cpl.1_Missense_Mutation_p.P137T	p.P127T	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	446	-	all_lung(31;0.000343)		127					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.379C>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	8.034	0.762423	0.15914	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188	T;T;T;T;T;T	0.58210	1.46;1.46;1.48;1.48;1.47;0.35	6.17	5.3	0.74995	.	0.391556	0.30043	N	0.010546	T	0.63838	0.2545	M	0.72118	2.19	0.29017	N	0.886535	D;P	0.65815	0.995;0.931	P;B	0.55112	0.769;0.36	T	0.65265	-0.6210	10	0.72032	D	0.01	-6.6442	11.0856	0.48084	0.0647:0.2406:0.6947:0.0	.	137;127	B4DLN2;O15117	.;FYB_HUMAN	T	127;127;127;127;137;127;127	ENSP00000316460:P127T;ENSP00000426346:P127T;ENSP00000425845:P127T;ENSP00000427114:P127T;ENSP00000442840:P137T;ENSP00000426597:P127T	ENSP00000316460:P127T	P	-	1	0	FYB	39238441	1.000000	0.71417	0.154000	0.22540	0.159000	0.22180	1.832000	0.39151	1.596000	0.50062	0.655000	0.94253	CCT		0.522	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		12	163	1	0	9.31168e-06	0.001855	1.1336e-05	12	163				
MROH2B	133558	broad.mit.edu	37	5	41010120	41010120	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:41010120C>T	ENST00000399564.4	-	31	3647	c.3197G>A	c.(3196-3198)aGt>aAt	p.S1066N	MROH2B_ENST00000506092.2_Missense_Mutation_p.S621N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1066								p.S1066N(1)									GAACTGAAAACTTTCTTCTTT	0.408																																							uc003jmj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3196-3198)AGT>AAT		HEAT repeat family member 7B2							133.0	121.0	125.0					5																	41010120		1879	4129	6008	SO:0001583	missense	133558						binding	g.chr5:41010120C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3197G>A	5.37:g.41010120C>T	ENSP00000382476:p.Ser1066Asn					HEATR7B2_uc003jmi.3_Missense_Mutation_p.S621N	p.S1066N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			31	3687	-			1066					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3197G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.769047	0.31320	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06371	3.31;3.31	6.0	5.13	0.70059	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08537	0.0212	L	0.54323	1.7	0.32373	N	0.555521	B	0.15473	0.013	B	0.14578	0.011	T	0.01215	-1.1416	10	0.56958	D	0.05	.	11.6702	0.51396	0.0:0.9164:0.0:0.0836	.	1066	Q7Z745	HTRB2_HUMAN	N	621;771;1066	ENSP00000441504:S621N;ENSP00000382476:S1066N	ENSP00000296803:S771N	S	-	2	0	HEATR7B2	41045877	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	1.931000	0.40134	2.848000	0.98002	0.655000	0.94253	AGT		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		19	69	0	0	0	0.007413	0	19	69				
MROH2B	133558	broad.mit.edu	37	5	41045869	41045869	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:41045869G>C	ENST00000399564.4	-	18	2265	c.1815C>G	c.(1813-1815)taC>taG	p.Y605*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Y160*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	605								p.Y605*(1)									AGTTATTGCTGTAACTGCCCA	0.438																																							uc003jmj.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(1813-1815)TAC>TAG		HEAT repeat family member 7B2							205.0	196.0	199.0					5																	41045869		1983	4171	6154	SO:0001587	stop_gained	133558						binding	g.chr5:41045869G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1815C>G	5.37:g.41045869G>C	ENSP00000382476:p.Tyr605*					HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.Y160*	p.Y605*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			18	2305	-			605			HEAT 7.		Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.1815C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	36	5.655520	0.96724	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	5.87	0.233	0.15386	.	0.000000	0.39687	N	0.001298	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4905	0.27458	0.5864:0.0:0.4136:0.0	.	.	.	.	X	160;310;605	.	ENSP00000296803:Y310X	Y	-	3	2	HEATR7B2	41081626	0.282000	0.24268	0.967000	0.41034	0.557000	0.35523	0.092000	0.15066	0.087000	0.17167	-0.145000	0.13849	TAC		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		57	210	0	0	0	0.00361	0	57	210				
ELOVL7	79993	broad.mit.edu	37	5	60053392	60053392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:60053392C>A	ENST00000508821.1	-	8	894	c.580G>T	c.(580-582)Ggg>Tgg	p.G194W	ELOVL7_ENST00000438340.1_Missense_Mutation_p.G194W|ELOVL7_ENST00000505959.1_Missense_Mutation_p.G181W|ELOVL7_ENST00000425382.1_Missense_Mutation_p.G194W	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	194					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.G194W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TAGGCTGGCCCCAATGCAGAA	0.363																																							uc003jsi.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(580-582)GGG>TGG		elongation of very long chain fatty acids-like							85.0	84.0	84.0					5																	60053392		2203	4300	6503	SO:0001583	missense	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60053392C>A	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.580G>T	5.37:g.60053392C>A	ENSP00000424123:p.Gly194Trp					ELOVL7_uc011cqo.1_Missense_Mutation_p.G107W|ELOVL7_uc010iwk.2_Missense_Mutation_p.G194W|ELOVL7_uc003jsj.3_Missense_Mutation_p.G181W	p.G194W	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			8	780	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	194			Helical; (Potential).		Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	c.580G>T	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767029	0.69878	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83501	0.0075	10	0.87932	D	0	-1.0047	19.9052	0.97004	0.0:1.0:0.0:0.0	.	181;194	D6RHD0;A1L3X0	.;ELOV7_HUMAN	W	194;194;194;181	ENSP00000424123:G194W;ENSP00000411255:G194W;ENSP00000402634:G194W;ENSP00000421043:G181W	ENSP00000402634:G194W	G	-	1	0	ELOVL7	60089149	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	7.338000	0.79269	2.776000	0.95493	0.655000	0.94253	GGG		0.363	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			16	43	1	0	6.94344e-10	0.006122	9.98404e-10	16	43				
HTR1A	3350	broad.mit.edu	37	5	63256918	63256918	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:63256918A>T	ENST00000323865.3	-	1	862	c.629T>A	c.(628-630)cTc>cAc	p.L210H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	210					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.L210H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AACCAGCATGAGCAGCAGCGG	0.577																																							uc011cqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(628-630)CTC>CAC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						104.0	116.0	112.0					5																	63256918		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256918A>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.629T>A	5.37:g.63256918A>T	ENSP00000316244:p.Leu210His						p.L210H	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	629	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	210			Helical; Name=5; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.629T>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057917	0.76074	.	.	ENSG00000178394	ENST00000323865	T	0.45276	0.9	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83138	-0.0110	10	0.87932	D	0	.	15.1521	0.72709	1.0:0.0:0.0:0.0	.	210	P08908	5HT1A_HUMAN	H	210	ENSP00000316244:L210H	ENSP00000316244:L210H	L	-	2	0	HTR1A	63292674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.175000	0.68902	0.533000	0.62120	CTC		0.577	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		68	126	0	0	0	0.00361	0	68	126				
CWC27	10283	broad.mit.edu	37	5	64082413	64082413	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:64082413A>C	ENST00000381070.3	+	6	775	c.558A>C	c.(556-558)aaA>aaC	p.K186N	CWC27_ENST00000508024.1_Missense_Mutation_p.K186N	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	186					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K186N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAAAGAGAAACCAGAGGAGG	0.303																																							uc003jtn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(556-558)AAA>AAC		serologically defined colon cancer antigen 10							76.0	79.0	78.0					5																	64082413		2203	4298	6501	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64082413A>C	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.558A>C	5.37:g.64082413A>C	ENSP00000370460:p.Lys186Asn					CWC27_uc003jtl.2_Missense_Mutation_p.K186N|CWC27_uc003jtm.2_Missense_Mutation_p.K186N|CWC27_uc010iwt.1_Missense_Mutation_p.K186N	p.K186N	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			6	777	+			186					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.558A>C	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525776	0.44969	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.26373	1.74;1.77	5.3	0.308	0.15815	Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	M	0.67700	2.07	0.49798	D	0.999821	B;P;B;D	0.57571	0.065;0.698;0.065;0.98	B;B;B;P	0.45946	0.045;0.201;0.097;0.498	T	0.05068	-1.0908	10	0.46703	T	0.11	.	9.0041	0.36100	0.6226:0.0:0.3774:0.0	.	186;186;186;186	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	N	186	ENSP00000370460:K186N;ENSP00000426802:K186N	ENSP00000370460:K186N	K	+	3	2	CWC27	64118169	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	1.675000	0.37555	-0.072000	0.12864	0.482000	0.46254	AAA		0.303	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		3	19	0	0	0	0.000602	0	3	19				
NLN	57486	broad.mit.edu	37	5	65084126	65084126	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:65084126C>G	ENST00000380985.5	+	8	1318	c.1140C>G	c.(1138-1140)ctC>ctG	p.L380L	NLN_ENST00000502464.1_Silent_p.L276L	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	380						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.L380L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAGAGTTCCTCAAGGAATACT	0.418																																							uc003juf.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1138-1140)CTC>CTG		neurolysin precursor							145.0	146.0	146.0					5																	65084126		2203	4300	6503	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65084126C>G	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1140C>G	5.37:g.65084126C>G						NLN_uc003jue.2_Silent_p.L380L|NLN_uc003jug.2_Silent_p.L209L|NLN_uc010iww.2_Silent_p.L75L	p.L380L	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	8	1256	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	380					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.1140C>G	CCDS3989.1																																																																																				0.418	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			27	109	0	0	0	0.005443	0	27	109				
CD180	4064	broad.mit.edu	37	5	66479590	66479590	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:66479590G>A	ENST00000256447.4	-	3	1238	c.1081C>T	c.(1081-1083)Ctt>Ttt	p.L361F		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	361					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L361F(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CCAACACCAAGGTGAAGTTTC	0.433																																							uc003juy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1081-1083)CTT>TTT		CD180 molecule precursor							109.0	104.0	105.0					5																	66479590		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479590G>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1081C>T	5.37:g.66479590G>A	ENSP00000256447:p.Leu361Phe						p.L361F	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1229	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	361			LRR 11.|Extracellular (Potential).		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1081C>T	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	0.589	-0.833872	0.02713	.	.	ENSG00000134061	ENST00000256447	T	0.65178	-0.14	4.94	0.996	0.19844	.	0.311787	0.25520	N	0.030115	T	0.30665	0.0772	N	0.02539	-0.55	0.09310	N	1	B	0.33739	0.422	B	0.30943	0.122	T	0.23297	-1.0192	10	0.40728	T	0.16	.	8.6688	0.34137	0.4927:0.0:0.5073:0.0	.	361	Q99467	CD180_HUMAN	F	361	ENSP00000256447:L361F	ENSP00000256447:L361F	L	-	1	0	CD180	66515346	0.607000	0.26958	0.004000	0.12327	0.022000	0.10575	1.347000	0.33975	0.251000	0.21505	0.655000	0.94253	CTT		0.433	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		35	82	0	0	0	0.003271	0	35	82				
PDE8B	8622	broad.mit.edu	37	5	76721722	76721722	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:76721722G>T	ENST00000264917.5	+	21	2593		c.e21+1		PDE8B_ENST00000342343.4_Splice_Site|PDE8B_ENST00000333194.4_Splice_Site|WDR41_ENST00000512033.1_5'Flank|PDE8B_ENST00000505283.1_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000346042.3_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.?(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GCTTGGGATGGTAAGACAGTT	0.378																																							uc003kfa.2		NA																	1	Unknown(1)		lung(1)		0						c.e21+1		phosphodiesterase 8B isoform 1							97.0	85.0	89.0					5																	76721722		2203	4300	6503	SO:0001630	splice_region_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76721722G>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2548+1G>T	5.37:g.76721722G>T						PDE8B_uc003kfb.2_Splice_Site_p.A830_splice|PDE8B_uc003kfc.2_Splice_Site_p.A795_splice|PDE8B_uc003kfd.2_Splice_Site_p.A803_splice|PDE8B_uc003kfe.2_Splice_Site_p.A753_splice	p.A850_splice	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	21	2593	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)						Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Splice_Site	SNP	ENST00000264917.5	37	c.2548_splice	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201957	0.58234	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE8B	76757478	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	.		0.378	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	Intron	5	44	1	0	5.9392e-07	0.001168	7.59035e-07	5	44				
CMYA5	202333	broad.mit.edu	37	5	79030273	79030273	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:79030273G>T	ENST00000446378.2	+	2	5716	c.5685G>T	c.(5683-5685)atG>atT	p.M1895I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1895					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.M1895I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAACTGGATGTTGGGAAAGC	0.433																																							uc003kgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(5683-5685)ATG>ATT		cardiomyopathy associated 5							47.0	47.0	47.0					5																	79030273		1875	4102	5977	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030273G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5685G>T	5.37:g.79030273G>T	ENSP00000394770:p.Met1895Ile						p.M1895I	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5757	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1895					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5685G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083246	0.55861	.	.	ENSG00000164309	ENST00000446378	T	0.06687	3.27	5.8	-4.48	0.03515	.	0.866997	0.10056	N	0.721572	T	0.05456	0.0144	L	0.43923	1.385	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.44406	-0.9330	10	0.56958	D	0.05	.	0.2304	0.00179	0.2377:0.193:0.2367:0.3325	.	1895	Q8N3K9	CMYA5_HUMAN	I	1895	ENSP00000394770:M1895I	ENSP00000394770:M1895I	M	+	3	0	CMYA5	79066029	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	-0.484000	0.06528	-0.474000	0.06862	0.650000	0.86243	ATG		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		25	34	1	0	1.88708e-17	0.008361	3.17955e-17	25	34				
VCAN	1462	broad.mit.edu	37	5	82815315	82815315	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:82815315C>G	ENST00000265077.3	+	7	1755	c.1190C>G	c.(1189-1191)cCc>cGc	p.P397R	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P397R|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P349R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	397	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P397R(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAGTTCCCTCCCGTGGGAAAT	0.433																																							uc003kii.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1189-1191)CCC>CGC		versican isoform 1 precursor							125.0	124.0	125.0					5																	82815315		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815315C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1190C>G	5.37:g.82815315C>G	ENSP00000265077:p.Pro397Arg					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P397R|VCAN_uc003kik.3_Intron	p.P397R	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1546	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	397			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1190C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091744	0.55968	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86694	-2.05;-2.12;-2.16	6.02	6.02	0.97574	.	0.199948	0.36002	N	0.002853	D	0.89996	0.6877	M	0.64997	1.995	0.43080	D	0.994737	P;P	0.48589	0.631;0.912	P;P	0.52159	0.553;0.691	D	0.90449	0.4437	10	0.66056	D	0.02	.	16.0408	0.80680	0.0:1.0:0.0:0.0	.	397;397	P13611-3;P13611	.;CSPG2_HUMAN	R	397;397;349	ENSP00000265077:P397R;ENSP00000342768:P397R;ENSP00000425959:P349R	ENSP00000265077:P397R	P	+	2	0	VCAN	82851071	0.061000	0.20836	1.000000	0.80357	0.493000	0.33554	1.304000	0.33482	2.865000	0.98341	0.655000	0.94253	CCC		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		30	96	0	0	0	0.009535	0	30	96				
MBLAC2	153364	broad.mit.edu	37	5	89756990	89756990	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:89756990C>A	ENST00000316610.6	-	2	1309	c.834G>T	c.(832-834)tcG>tcT	p.S278S		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	278						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S278S(1)		kidney(1)|liver(1)|lung(3)	5						GATACTAGGGCGAGGTCCTAG	0.318																																							uc003kjp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)TCG>TCT		beta-lactamase-like							27.0	28.0	28.0					5																	89756990		2203	4300	6503	SO:0001819	synonymous_variant	153364						hydrolase activity|metal ion binding	g.chr5:89756990C>A	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.834G>T	5.37:g.89756990C>A							p.S278S	NM_203406	NP_981951	Q68D91	MBLC2_HUMAN			2	1310	-			278					D6RJI1|Q8IY16|Q8N8D8	Silent	SNP	ENST00000316610.6	37	c.834G>T	CCDS4067.1																																																																																				0.318	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		7	10	1	0	0.00307968	0.00308	0.0033804	7	10				
PPIP5K2	23262	broad.mit.edu	37	5	102469323	102469323	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:102469323G>A	ENST00000358359.3	+	3	790	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.C94Y|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.C94Y	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	94					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.C94Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGCCTTTATGTGATTGTCTT	0.328																																							uc003kod.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(280-282)TGT>TAT		Histidine acid phosphatase domain containing 1							97.0	100.0	99.0					5																	102469323		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102469323G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.281G>A	5.37:g.102469323G>A	ENSP00000351126:p.Cys94Tyr					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.C94Y|PPIP5K2_uc010jbo.1_Intron	p.C94Y	NM_015216	NP_056031	O43314	VIP2_HUMAN			3	800	+			94					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.281G>A		.	.	.	.	.	.	.	.	.	.	G	23.8	4.458386	0.84317	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T	0.19250	2.17;2.16;2.17	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73170	-0.4067	10	0.87932	D	0	.	19.0302	0.92953	0.0:0.0:1.0:0.0	.	94;94	O43314-2;O43314	.;VIP2_HUMAN	Y	94;94;94;94;24	ENSP00000313070:C94Y;ENSP00000351126:C94Y;ENSP00000416016:C94Y	ENSP00000313070:C94Y	C	+	2	0	PPIP5K2	102497222	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.576000	0.86940	0.491000	0.48974	TGT		0.328	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		22	67	0	0	0	0.00333	0	22	67				
MCC	4163	broad.mit.edu	37	5	112437459	112437459	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:112437459C>A	ENST00000302475.4	-	6	1368	c.805G>T	c.(805-807)Gag>Tag	p.E269*	MCC_ENST00000515367.2_Nonsense_Mutation_p.E206*|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Nonsense_Mutation_p.E459*	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	269					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E459*(1)|p.E269*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CGGTCCCGCTCTTCCCGGATG	0.602																																							uc003kqj.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(805-807)GAG>TAG		mutated in colorectal cancers isoform 2							122.0	116.0	118.0					5																	112437459		2202	4300	6502	SO:0001587	stop_gained	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112437459C>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.805G>T	5.37:g.112437459C>A	ENSP00000305617:p.Glu269*					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Nonsense_Mutation_p.E459*|MCC_uc011cwb.1_Nonsense_Mutation_p.E269*|MCC_uc010jcd.1_Nonsense_Mutation_p.E231*	p.E269*	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	6	1335	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	269					D3DT05|Q6ZR04	Nonsense_Mutation	SNP	ENST00000302475.4	37	c.805G>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	42	9.481701	0.99183	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-29.35	19.5418	0.95277	0.0:1.0:0.0:0.0	.	.	.	.	X	269;206;459	.	ENSP00000305617:E269X	E	-	1	0	MCC	112465358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.180000	0.71981	2.684000	0.91462	0.655000	0.94253	GAG		0.602	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		27	61	1	0	1.32003e-05	0.005443	1.5894e-05	27	61				
LMNB1	4001	broad.mit.edu	37	5	126156789	126156789	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:126156789G>C	ENST00000261366.5	+	7	1709	c.1348G>C	c.(1348-1350)Gat>Cat	p.D450H	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	450	LTD.|Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)	p.D450H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AATTGATGTTGATGGGAAATT	0.408																																							uc003kud.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(1348-1350)GAT>CAT		lamin B1							131.0	126.0	128.0					5																	126156789		2203	4300	6503	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126156789G>C	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1348G>C	5.37:g.126156789G>C	ENSP00000261366:p.Asp450His					LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.D240H	p.D450H	NM_005573	NP_005564	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	7	1716	+		all_cancers(142;0.103)|Prostate(80;0.081)	450			Tail.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.1348G>C	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142173	0.94560	.	.	ENSG00000113368	ENST00000261366	D	0.98732	-5.1	6.06	6.06	0.98353	Intermediate filament, C-terminal (1);	0.095311	0.64402	D	0.000002	D	0.98921	0.9634	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.61201	0.885	D	0.99494	1.0951	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	450	P20700	LMNB1_HUMAN	H	450	ENSP00000261366:D450H	ENSP00000261366:D450H	D	+	1	0	LMNB1	126184688	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	7.619000	0.83057	2.882000	0.98803	0.655000	0.94253	GAT		0.408	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		15	63	0	0	0	0.00499	0	15	63				
SLC12A2	6558	broad.mit.edu	37	5	127487036	127487036	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:127487036A>T	ENST00000262461.2	+	14	2400	c.2211A>T	c.(2209-2211)ctA>ctT	p.L737L	SLC12A2_ENST00000343225.4_Silent_p.L737L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	737					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.L737L(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTGCATTGCTAACATATGTGA	0.383																																							uc003kus.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2209-2211)CTA>CTT		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						193.0	184.0	187.0					5																	127487036		2203	4300	6503	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127487036A>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2211A>T	5.37:g.127487036A>T						SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.L737L	p.L737L	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2375	+		all_cancers(142;0.0972)|Prostate(80;0.151)	737			Helical; (Potential).		Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.2211A>T	CCDS4144.1																																																																																				0.383	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		20	67	0	0	0	0.007413	0	20	67				
FBN2	2201	broad.mit.edu	37	5	127622515	127622515	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:127622515G>T	ENST00000508053.1	-	61	7881	c.6907C>A	c.(6907-6909)Cac>Aac	p.H2303N	FBN2_ENST00000262464.4_Missense_Mutation_p.H2303N			P35556	FBN2_HUMAN	fibrillin 2	2303	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.H2303N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCACAGTCGTGTAACCCTTCA	0.438																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(6907-6909)CAC>AAC		fibrillin 2 precursor							116.0	103.0	108.0					5																	127622515		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127622515G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6907C>A	5.37:g.127622515G>T	ENSP00000424571:p.His2303Asn						p.H2303N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	55	7346	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2303			EGF-like 39; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6907C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396827	0.25205	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92149	-2.98;-2.98	5.34	5.34	0.76211	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.84732	0.5537	N	0.11341	0.13	0.58432	D	0.999991	B	0.30146	0.27	B	0.34931	0.192	T	0.80487	-0.1361	10	0.07325	T	0.83	.	19.5946	0.95530	0.0:0.0:1.0:0.0	.	2303	P35556	FBN2_HUMAN	N	2303	ENSP00000262464:H2303N;ENSP00000424571:H2303N	ENSP00000262464:H2303N	H	-	1	0	FBN2	127650414	1.000000	0.71417	0.870000	0.34147	0.416000	0.31233	4.853000	0.62911	2.937000	0.99478	0.650000	0.86243	CAC		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		12	49	1	0	2.61681e-11	0.00245	3.89738e-11	12	49				
RAPGEF6	51735	broad.mit.edu	37	5	130828276	130828276	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:130828276T>A	ENST00000509018.1	-	14	1935	c.1730A>T	c.(1729-1731)cAg>cTg	p.Q577L	RAPGEF6_ENST00000507093.1_Splice_Site_p.Q577L|RAPGEF6_ENST00000308008.6_Splice_Site_p.Q577L|RAPGEF6_ENST00000296859.6_Splice_Site_p.Q577L|RAPGEF6_ENST00000510071.1_Splice_Site_p.Q577L|RAPGEF6_ENST00000512052.1_Splice_Site_p.Q292L|CTC-432M15.3_ENST00000514667.1_Splice_Site_p.Q627L|RAPGEF6_ENST00000307984.5_Splice_Site_p.Q577L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	577	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.Q577L(3)|p.Q627L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTTCCTTACCTGATCACCACG	0.403																																					Melanoma(168;435 1955 13113 13877 23213)	Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1729-1731)CAG>CTG		PDZ domain-containing guanine nucleotide							111.0	109.0	110.0					5																	130828276		2203	4300	6503	SO:0001630	splice_region_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130828276T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1731+1A>T	5.37:g.130828276T>A						RAPGEF6_uc003kvp.1_Missense_Mutation_p.Q627L|RAPGEF6_uc003kvo.1_Missense_Mutation_p.Q577L|RAPGEF6_uc010jdi.1_Missense_Mutation_p.Q577L|RAPGEF6_uc010jdj.1_Missense_Mutation_p.Q577L|RAPGEF6_uc003kvq.2_Missense_Mutation_p.Q294L|RAPGEF6_uc003kvr.2_Missense_Mutation_p.Q577L|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.Q577L	p.Q577L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	14	1936	-			577			PDZ.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1730A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002738	0.93227	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.28454	1.62;1.62;1.62;1.62;1.62;1.62;1.61;1.62	6.04	6.04	0.98038	PDZ/DHR/GLGF (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	N	0.05441	-0.05	0.80722	D	1	D;P;D;D;D;P;D	0.89917	1.0;0.877;1.0;1.0;1.0;0.911;1.0	D;P;D;D;D;P;D	0.91635	0.997;0.78;0.99;0.994;0.999;0.821;0.997	T	0.50693	-0.8798	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	577;577;577;292;627;577;577	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	L	577;577;577;577;577;292;577;577;627	ENSP00000421684:Q577L;ENSP00000309298:Q577L;ENSP00000426081:Q577L;ENSP00000296859:Q577L;ENSP00000426910:Q292L;ENSP00000311419:Q577L;ENSP00000425389:Q577L;ENSP00000426948:Q627L	ENSP00000426948:Q627L	Q	-	2	0	RAPGEF6;FNIP1	130856175	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	CAG		0.403	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	Missense_Mutation	29	59	0	0	0	0.009535	0	29	59				
RAD50	10111	broad.mit.edu	37	5	131895051	131895051	+	Missense_Mutation	SNP	G	G	T	rs370769989		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:131895051G>T	ENST00000265335.6	+	2	592	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	69					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.D69Y(1)|p.D69N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTACACGATCCCAAGGT	0.284								Homologous recombination																															uc003kxi.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(205-207)GAT>TAT	Homologous_recombination	RAD50 homolog isoform 1							56.0	60.0	59.0					5																	131895051		2202	4292	6494	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131895051G>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.205G>T	5.37:g.131895051G>T	ENSP00000265335:p.Asp69Tyr					RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR	p.D69Y	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	592	+		all_cancers(142;0.0368)|Breast(839;0.198)	69					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.205G>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120854	0.77436	.	.	ENSG00000113522	ENST00000265335;ENST00000453394	T;T	0.18016	2.24;2.24	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65142	-0.6240	10	0.87932	D	0	-19.8593	15.7613	0.78082	0.0:0.0:1.0:0.0	.	69	Q92878	RAD50_HUMAN	Y	69	ENSP00000265335:D69Y;ENSP00000400049:D69Y	ENSP00000265335:D69Y	D	+	1	0	RAD50	131922950	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.829000	0.92055	2.288000	0.76882	0.491000	0.48974	GAT		0.284	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		31	80	1	0	1.06801e-11	0.009535	1.60462e-11	31	80				
KLHL3	26249	broad.mit.edu	37	5	136964068	136964068	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:136964068C>A	ENST00000309755.4	-	13	1952	c.1509G>T	c.(1507-1509)gtG>gtT	p.V503V	KLHL3_ENST00000508657.1_Silent_p.V471V|KLHL3_ENST00000506491.1_Silent_p.V421V|KLHL3_ENST00000541417.1_Nonstop_Mutation_p.*201L|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	503					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.V503V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGCTCTTCCTCACCAAAGGCC	0.552																																							uc010jek.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1507-1509)GTG>GTT		kelch-like 3							235.0	198.0	211.0					5																	136964068		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136964068C>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1509G>T	5.37:g.136964068C>A						KLHL3_uc011cyc.1_Silent_p.V238V|KLHL3_uc003lbr.3_Silent_p.V421V|KLHL3_uc011cyd.1_RNA	p.V503V	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	13	1953	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	503			Kelch 5.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1509G>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492302	0.44352	.	.	ENSG00000146021	ENST00000541417	.	.	.	5.65	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9114	0.35555	0.0:0.7385:0.125:0.1365	.	.	.	.	L	201	.	.	X	-	2	2	KLHL3	136991967	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.621000	0.24418	1.630000	0.50440	0.655000	0.94253	TGA		0.552	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			14	157	1	0	1.3612e-06	0.003163	1.72248e-06	14	157				
NRG2	9542	broad.mit.edu	37	5	139231342	139231342	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:139231342G>A	ENST00000361474.1	-	9	1843	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	NRG2_ENST00000340391.3_Missense_Mutation_p.S337L|NRG2_ENST00000358522.3_Missense_Mutation_p.S542L|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289422.7_Missense_Mutation_p.S548L|NRG2_ENST00000541337.1_Missense_Mutation_p.S474L|NRG2_ENST00000289409.4_Missense_Mutation_p.S534L|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000545385.1_Missense_Mutation_p.S542L	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	540					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S540L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCACTGATGATAGCATGAT	0.632																																							uc003lex.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(1618-1620)TCA>TTA		neuregulin 2 isoform 1							67.0	69.0	68.0					5																	139231342		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139231342G>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1619C>T	5.37:g.139231342G>A	ENSP00000354910:p.Ser540Leu					NRG2_uc003lev.1_Missense_Mutation_p.S548L|NRG2_uc003lew.1_Missense_Mutation_p.S542L|NRG2_uc003ley.1_Missense_Mutation_p.S534L	p.S540L	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1844	-			540			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000361474.1	37	c.1619C>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878227	0.91664	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.3	5.3	0.74995	Neuregulin 1-related, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.75228	0.3821	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.62365	0.991;0.987;0.991;0.991	D;P;D;D	0.65987	0.94;0.872;0.94;0.94	T	0.78463	-0.2194	10	0.87932	D	0	-14.7488	17.1337	0.86733	0.0:0.0:1.0:0.0	.	534;540;542;548	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	L	474;548;540;548;542;337;534;542	ENSP00000444235:S474L;ENSP00000289422:S548L;ENSP00000354910:S540L;ENSP00000438753:S542L;ENSP00000342660:S337L;ENSP00000289409:S534L;ENSP00000351323:S542L	ENSP00000289409:S534L	S	-	2	0	NRG2	139211526	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.129000	0.77225	2.488000	0.83962	0.655000	0.94253	TCA		0.632	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		6	48	0	0	0	0.001984	0	6	48				
PCDHB2	56133	broad.mit.edu	37	5	140476226	140476226	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140476226G>T	ENST00000194155.4	+	1	2000	c.1852G>T	c.(1852-1854)Ggc>Tgc	p.G618C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	618	Cadherin 6. {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)	p.G618C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCTGTTCGGCGTGTGGGC	0.687																																							uc003lil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1852-1854)GGC>TGC		protocadherin beta 2 precursor							26.0	28.0	27.0					5																	140476226		2061	4075	6136	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476226G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1852G>T	5.37:g.140476226G>T	ENSP00000194155:p.Gly618Cys					PCDHB2_uc003lim.1_Missense_Mutation_p.G279C	p.G618C	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1990	+			618			Cadherin 6.|Extracellular (Potential).		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1852G>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881388	0.33255	.	.	ENSG00000112852	ENST00000194155	T	0.52295	0.67	4.39	-3.51	0.04696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46171	0.1379	L	0.61218	1.895	0.26868	N	0.967813	B	0.26902	0.163	B	0.37451	0.25	T	0.57165	-0.7858	9	0.72032	D	0.01	.	7.8836	0.29637	0.6378:0.2415:0.1207:0.0	.	618	Q9Y5E7	PCDB2_HUMAN	C	618	ENSP00000194155:G618C	ENSP00000194155:G618C	G	+	1	0	PCDHB2	140456410	0.000000	0.05858	0.993000	0.49108	0.992000	0.81027	-2.761000	0.00786	-0.500000	0.06614	-0.378000	0.06908	GGC		0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		17	52	1	0	1.10923e-09	0.00278	1.5773e-09	17	52				
PCDHB7	56129	broad.mit.edu	37	5	140552728	140552728	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140552728G>C	ENST00000231137.3	+	1	486	c.312G>C	c.(310-312)ctG>ctC	p.L104L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L104L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTGTGCTGCCTTTCCAGT	0.443																																							uc003lit.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(310-312)CTG>CTC		protocadherin beta 7 precursor							79.0	83.0	81.0					5																	140552728		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552728G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.312G>C	5.37:g.140552728G>C							p.L104L	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	486	+			104			Extracellular (Potential).|Cadherin 1.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.312G>C	CCDS4249.1																																																																																				0.443	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		30	79	0	0	0	0.009535	0	30	79				
PCDHGA5	56110	broad.mit.edu	37	5	140745190	140745190	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140745190C>A	ENST00000518069.1	+	1	1293	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P431P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCCCGCCCCTCTCTACAG	0.448																																							uc003lju.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1291-1293)CCC>CCA		protocadherin gamma subfamily A, 5 isoform 1							95.0	100.0	98.0					5																	140745190		1901	4106	6007	SO:0001819	synonymous_variant	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745190C>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1293C>A	5.37:g.140745190C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.P431P	p.P431P	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1293	+			431			Cadherin 4.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1293C>A	CCDS54925.1																																																																																				0.448	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		31	78	1	0	4.16155e-14	0.00874	6.59339e-14	31	78				
PCDHGA7	56108	broad.mit.edu	37	5	140763276	140763276	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140763276C>A	ENST00000518325.1	+	1	810	c.810C>A	c.(808-810)gaC>gaA	p.D270E	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D270E(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGACCTGGACGAGGGAGTCA	0.463																																							uc003lka.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GAC>GAA		protocadherin gamma subfamily A, 7 isoform 1							50.0	50.0	50.0					5																	140763276		1983	4157	6140	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763276C>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.810C>A	5.37:g.140763276C>A	ENSP00000430024:p.Asp270Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D270E	p.D270E	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	810	+			270			Cadherin 3.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.810C>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	16.47	3.132400	0.56828	.	.	ENSG00000253537	ENST00000518325	T	0.73789	-0.78	5.3	-2.8	0.05823	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.90021	0.6884	H	0.98256	4.185	0.23180	N	0.99816	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83092	-0.0132	9	0.87932	D	0	.	13.4816	0.61338	0.0:0.4546:0.0:0.5453	.	270;270	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	E	270	ENSP00000430024:D270E	ENSP00000430024:D270E	D	+	3	2	PCDHGA7	140743460	0.828000	0.29307	0.953000	0.39169	0.986000	0.74619	-0.087000	0.11215	-0.399000	0.07668	-0.302000	0.09304	GAC		0.463	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		5	39	1	0	0.000602214	0.000602	0.000674971	5	39				
PCDHGA7	56108	broad.mit.edu	37	5	140764644	140764644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140764644G>T	ENST00000518325.1	+	1	2178	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	726					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q726H(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTGCAGGCTTCAGAAG	0.632																																							uc003lka.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2176-2178)CAG>CAT		protocadherin gamma subfamily A, 7 isoform 1							53.0	59.0	57.0					5																	140764644		2203	4300	6503	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764644G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2178G>T	5.37:g.140764644G>T	ENSP00000430024:p.Gln726His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.Q726H|PCDHGB4_uc011dav.1_5'Flank	p.Q726H	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2178	+			726			Cytoplasmic (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.2178G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	9.440	1.087758	0.20390	.	.	ENSG00000253537	ENST00000518325	T	0.50813	0.73	4.73	-1.62	0.08372	.	.	.	.	.	T	0.46347	0.1388	M	0.80508	2.5	0.09310	N	1	B;B	0.22909	0.023;0.077	B;B	0.26202	0.046;0.067	T	0.46442	-0.9191	9	0.17369	T	0.5	.	10.6696	0.45751	0.445:0.0:0.555:0.0	.	726;726	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	H	726	ENSP00000430024:Q726H	ENSP00000430024:Q726H	Q	+	3	2	PCDHGA7	140744828	0.000000	0.05858	0.037000	0.18230	0.050000	0.14768	-0.067000	0.11579	-0.326000	0.08564	0.563000	0.77884	CAG		0.632	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		12	45	1	0	2.27111e-07	0.001368	2.94651e-07	12	45				
PCDHGA8	9708	broad.mit.edu	37	5	140773763	140773763	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140773763C>G	ENST00000398604.2	+	1	1383	c.1383C>G	c.(1381-1383)atC>atG	p.I461M	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I461M(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGTATATCCTAGAGAACA	0.527																																							uc003lkd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)ATC>ATG		protocadherin gamma subfamily A, 8 isoform 1							66.0	69.0	68.0					5																	140773763		2085	4234	6319	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140773763C>G	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1383C>G	5.37:g.140773763C>G	ENSP00000381605:p.Ile461Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.I461M	p.I461M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2281	+			461			Extracellular (Potential).|Cadherin 5.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1383C>G	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426423	0.11987	.	.	ENSG00000253767	ENST00000398604	T	0.56444	0.46	5.06	-0.809	0.10864	Cadherin (4);Cadherin-like (1);	0.000000	0.31335	U	0.007836	T	0.58906	0.2155	M	0.92923	3.36	0.09310	N	1	P;P	0.42584	0.784;0.744	P;B	0.46585	0.521;0.412	T	0.56956	-0.7893	10	0.87932	D	0	.	1.663	0.02796	0.1149:0.3159:0.2266:0.3426	.	461;461	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	461	ENSP00000381605:I461M	ENSP00000381605:I461M	I	+	3	3	PCDHGA8	140753947	0.000000	0.05858	0.933000	0.37362	0.042000	0.13812	-3.384000	0.00489	-0.062000	0.13088	-0.175000	0.13238	ATC		0.527	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		9	20	0	0	0	0.008291	0	9	20				
PCDHGB7	56099	broad.mit.edu	37	5	140799740	140799740	+	Missense_Mutation	SNP	G	G	C	rs553950688		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:140799740G>C	ENST00000398594.2	+	1	2314	c.2314G>C	c.(2314-2316)Gat>Cat	p.D772H	PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	772					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D772H(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACATCTGTTGATCATTGTCC	0.418																																							uc003lkn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2314-2316)GAT>CAT		protocadherin gamma subfamily B, 7 isoform 1							72.0	70.0	71.0					5																	140799740		1857	4109	5966	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140799740G>C	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2314G>C	5.37:g.140799740G>C	ENSP00000381594:p.Asp772His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.D772H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.D772H	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2459	+			772			Cytoplasmic (Potential).		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.2314G>C	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	12.07	1.826705	0.32329	.	.	ENSG00000254122	ENST00000398594	T	0.48201	0.82	5.51	2.76	0.32466	.	1.156850	0.07081	U	0.837052	T	0.34542	0.0901	N	0.08118	0	0.09310	N	1	P;P	0.47604	0.748;0.898	B;P	0.49276	0.401;0.605	T	0.18241	-1.0343	10	0.54805	T	0.06	.	4.1132	0.10068	0.2482:0.0:0.579:0.1728	.	772;772	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	H	772	ENSP00000381594:D772H	ENSP00000381594:D772H	D	+	1	0	PCDHGB7	140779924	0.393000	0.25237	0.169000	0.22859	0.648000	0.38561	1.003000	0.29809	0.430000	0.26230	0.561000	0.74099	GAT		0.418	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		9	55	0	0	0	0.006214	0	9	55				
PCDH1	5097	broad.mit.edu	37	5	141236969	141236969	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:141236969T>A	ENST00000287008.3	-	4	3314	c.3167A>T	c.(3166-3168)cAc>cTc	p.H1056L	PCDH1_ENST00000503492.1_Missense_Mutation_p.H324L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1056L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATAGTAACTGTGCTGGGATGG	0.617																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3166-3168)CAC>CTC		protocadherin 1 isoform 2 precursor							69.0	59.0	63.0					5																	141236969		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141236969T>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3167A>T	5.37:g.141236969T>A	ENSP00000287008:p.His1056Leu						p.H1056L	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	4	3284	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3167A>T	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315513	0.40996	.	.	ENSG00000156453	ENST00000503492;ENST00000287008	T;T	0.53423	0.62;0.72	5.23	5.23	0.72850	.	0.000000	0.51477	D	0.000100	T	0.45994	0.1370	L	0.50333	1.59	0.80722	D	1	P	0.45715	0.865	B	0.42827	0.399	T	0.51411	-0.8709	10	0.72032	D	0.01	.	13.0692	0.59050	0.0:0.0:0.0:1.0	.	1056	Q08174-2	.	L	324;1056	ENSP00000424667:H324L;ENSP00000287008:H1056L	ENSP00000287008:H1056L	H	-	2	0	PCDH1	141217153	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.689000	0.68234	1.970000	0.57323	0.374000	0.22700	CAC		0.617	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		8	24	0	0	0	0.00308	0	8	24				
SLC36A1	206358	broad.mit.edu	37	5	150858948	150858948	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:150858948G>T	ENST00000243389.3	+	10	1280	c.1057G>T	c.(1057-1059)Gtc>Ttc	p.V353F	SLC36A1_ENST00000521925.1_Missense_Mutation_p.V353F|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Missense_Mutation_p.V353F	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	353					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.V353F(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCAGTTCTACGTCCCGGCTGA	0.547																																					Melanoma(151;1534 1860 12947 32979 37872)	Melanoma(151;1534 1860 12947 32979 37872)	uc003luc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1057-1059)GTC>TTC		solute carrier family 36 member 1	Glycine(DB00145)|L-Alanine(DB00160)						201.0	171.0	181.0					5																	150858948		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150858948G>T	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1057G>T	5.37:g.150858948G>T	ENSP00000243389:p.Val353Phe					GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.V353F|SLC36A1_uc010jhw.1_Missense_Mutation_p.V353F	p.V353F	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1274	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	353			Helical; Name=8; (Potential).		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1057G>T	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397922	0.96030	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.02656	4.21;4.21;4.21;4.21	5.77	5.77	0.91146	.	0.121664	0.53938	D	0.000045	T	0.29976	0.0750	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.993	T	0.50709	-0.8796	10	0.87932	D	0	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	353;353	E7EW39;Q7Z2H8	.;S36A1_HUMAN	F	353;353;353;353;112	ENSP00000428140:V353F;ENSP00000243389:V353F;ENSP00000430305:V353F;ENSP00000428738:V112F	ENSP00000243389:V353F	V	+	1	0	SLC36A1	150839141	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.485000	0.97942	2.724000	0.93272	0.561000	0.74099	GTC		0.547	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		24	62	1	0	2.70639e-06	0.002299	3.36932e-06	24	62				
SPARC	6678	broad.mit.edu	37	5	151054176	151054176	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:151054176A>T	ENST00000231061.4	-	3	430	c.117T>A	c.(115-117)acT>acA	p.T39T	CTB-113P19.1_ENST00000518905.1_RNA|CTB-113P19.1_ENST00000510576.2_RNA	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	39	Asp/Glu-rich (acidic; binds calcium).				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.T39T(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		CACATACCTCAGTCACCTCTG	0.542																																							uc003luh.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(115-117)ACT>ACA		secreted protein, acidic, cysteine-rich	Becaplermin(DB00102)						219.0	192.0	201.0					5																	151054176		2203	4300	6503	SO:0001819	synonymous_variant	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151054176A>T		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.117T>A	5.37:g.151054176A>T						GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_5'UTR|SPARC_uc003lui.2_Silent_p.T39T|uc003luj.2_5'Flank	p.T39T	NM_003118	NP_003109	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	2	141	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	39			Asp/Glu-rich (acidic; binds calcium).		D3DQH9|Q6IBK4	Silent	SNP	ENST00000231061.4	37	c.117T>A	CCDS4318.1																																																																																				0.542	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		44	89	0	0	0	0.002522	0	44	89				
NMUR2	56923	broad.mit.edu	37	5	151784225	151784225	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:151784225G>A	ENST00000255262.3	-	1	615	c.450C>T	c.(448-450)caC>caT	p.H150H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	150					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.H150H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CGCGGAACGGGTGTAGGATGG	0.642																																							uc003luv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(448-450)CAC>CAT		neuromedin U receptor 2							50.0	56.0	54.0					5																	151784225		2203	4300	6503	SO:0001819	synonymous_variant	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784225G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.450C>T	5.37:g.151784225G>A							p.H150H	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	616	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	150			Cytoplasmic (Potential).		Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	c.450C>T	CCDS4321.1																																																																																				0.642	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		12	57	0	0	0	0.001368	0	12	57				
GRIA1	2890	broad.mit.edu	37	5	153077700	153077700	+	Missense_Mutation	SNP	G	G	T	rs147418341		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:153077700G>T	ENST00000285900.5	+	9	1574	c.1231G>T	c.(1231-1233)Gtc>Ttc	p.V411F	GRIA1_ENST00000518783.1_Missense_Mutation_p.V421F|GRIA1_ENST00000521843.2_Missense_Mutation_p.V342F|GRIA1_ENST00000448073.4_Missense_Mutation_p.V421F|GRIA1_ENST00000518142.1_Missense_Mutation_p.V331F|GRIA1_ENST00000340592.5_Missense_Mutation_p.V411F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	411					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.V411F(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AACATACATCGTCACAACAAT	0.473																																							uc003lva.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1231-1233)GTC>TTC		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						87.0	78.0	81.0					5																	153077700		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153077700G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1231G>T	5.37:g.153077700G>T	ENSP00000285900:p.Val411Phe					GRIA1_uc003luy.3_Missense_Mutation_p.V411F|GRIA1_uc003luz.3_Missense_Mutation_p.V316F|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.V331F|GRIA1_uc011dcx.1_Missense_Mutation_p.V342F|GRIA1_uc011dcy.1_Missense_Mutation_p.V421F|GRIA1_uc011dcz.1_Missense_Mutation_p.V421F|GRIA1_uc010jia.1_Missense_Mutation_p.V391F	p.V411F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1596	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	411			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1231G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812921	0.90707	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.56	5.56	0.83823	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.76494	0.99;0.978;0.999;0.99;0.987;0.996	D;P;D;D;P;D	0.80764	0.936;0.786;0.994;0.936;0.894;0.945	T	0.81861	-0.0738	10	0.87932	D	0	.	18.5007	0.90879	0.0:0.0:1.0:0.0	.	421;421;331;421;411;411	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	F	411;411;331;365;411;342;342;421;421	ENSP00000285900:V411F;ENSP00000427920:V331F;ENSP00000339343:V411F;ENSP00000427864:V342F;ENSP00000442108:V342F;ENSP00000428994:V421F;ENSP00000415569:V421F	ENSP00000285900:V411F	V	+	1	0	GRIA1	153057893	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.247000	0.95444	2.595000	0.87683	0.655000	0.94253	GTC		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			11	21	1	0	3.07112e-06	0.000978	3.80187e-06	11	21				
LARP1	23367	broad.mit.edu	37	5	154181811	154181811	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:154181811G>T	ENST00000336314.4	+	11	1754	c.1730G>T	c.(1729-1731)cGc>cTc	p.R577L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	654					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.R654L(1)|p.R577L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATTACATGCGCCGGCACCCA	0.537																																							uc003lvp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1960-1962)CGC>CTC		la related protein isoform 2							92.0	85.0	87.0					5																	154181811		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154181811G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1730G>T	5.37:g.154181811G>T	ENSP00000336721:p.Arg577Leu					LARP1_uc003lvo.2_Missense_Mutation_p.R577L|LARP1_uc010jie.1_Missense_Mutation_p.R449L	p.R654L	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	2390	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	654					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1961G>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306329	0.95629	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.38240	1.64;1.15;1.19	6.17	6.17	0.99709	.	0.047656	0.85682	D	0.000000	T	0.55721	0.1938	M	0.62723	1.935	0.80722	D	1	P;P	0.52316	0.951;0.952	P;P	0.56042	0.621;0.79	T	0.50197	-0.8856	10	0.56958	D	0.05	-15.674	20.8794	0.99867	0.0:0.0:1.0:0.0	.	654;577	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	L	577;654;449	ENSP00000336721:R577L;ENSP00000428589:R654L;ENSP00000429904:R449L	ENSP00000336721:R577L	R	+	2	0	LARP1	154162004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.893000	0.87330	2.941000	0.99782	0.655000	0.94253	CGC		0.537	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		21	58	1	0	1.64293e-13	0.00333	2.56865e-13	21	58				
ADAM19	8728	broad.mit.edu	37	5	156964958	156964958	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:156964958G>A	ENST00000517905.1	-	4	337	c.293C>T	c.(292-294)tCa>tTa	p.S98L	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Missense_Mutation_p.S98L|ADAM19_ENST00000394020.1_Missense_Mutation_p.S100L			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	98					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S98L(1)|p.S99L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTACCACTTGAAGTATAATG	0.448																																							uc003lwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(292-294)TCA>TTA		ADAM metallopeptidase domain 19 preproprotein							198.0	187.0	191.0					5																	156964958		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156964958G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.293C>T	5.37:g.156964958G>A	ENSP00000428654:p.Ser98Leu					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.S29L	p.S98L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	357	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	98					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.293C>T		.	.	.	.	.	.	.	.	.	.	G	12.27	1.888609	0.33348	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.05855	3.38;3.38;3.38	5.29	4.36	0.52297	.	0.455157	0.20545	N	0.090233	T	0.05135	0.0137	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32268	-0.9913	10	0.27082	T	0.32	.	10.7411	0.46154	0.0:0.0:0.8106:0.1894	.	98	Q9H013-2	.	L	98;100;98	ENSP00000257527:S98L;ENSP00000377588:S100L;ENSP00000428654:S98L	ENSP00000257527:S98L	S	-	2	0	ADAM19	156897536	0.975000	0.34042	0.447000	0.26932	0.948000	0.59901	1.122000	0.31295	2.648000	0.89879	0.650000	0.86243	TCA		0.448	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		8	134	0	0	0	0.006214	0	8	134				
SLIT3	6586	broad.mit.edu	37	5	168151447	168151447	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:168151447C>G	ENST00000519560.1	-	21	2732	c.2313G>C	c.(2311-2313)ctG>ctC	p.L771L	SLIT3_ENST00000404867.3_Silent_p.L771L|SLIT3_ENST00000332966.8_Silent_p.L771L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	771					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.L771L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGGGCGGACAGCTCTCTGG	0.517																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2311-2313)CTG>CTC		slit homolog 3 precursor							72.0	67.0	69.0					5																	168151447		2203	4297	6500	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168151447C>G	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2313G>C	5.37:g.168151447C>G						SLIT3_uc010jjg.2_Silent_p.L771L	p.L771L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		21	2733	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	771			LRR 17.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2313G>C	CCDS4369.1																																																																																				0.517	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		4	55	0	0	0	0.001984	0	4	55				
C5orf58	133874	broad.mit.edu	37	5	169672990	169672990	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:169672990A>G	ENST00000521850.1	+	3	1871	c.182A>G	c.(181-183)gAc>gGc	p.D61G	C5orf58_ENST00000593851.1_Missense_Mutation_p.D61G|C5orf58_ENST00000517575.1_Intron			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	61								p.D61G(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6						TTGCTTTGTGACCTTATCCTA	0.348																																							uc010jjn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GAC>GGC		hypothetical protein LOC133874							177.0	173.0	175.0					5																	169672990		1847	4097	5944	SO:0001583	missense	133874							g.chr5:169672990A>G	BC030767	CCDS47338.1	5q35.1	2009-09-30			ENSG00000234511	ENSG00000234511			37272	protein-coding gene	gene with protein product							Standard	NM_001102609		Approved		uc010jjn.3	C9J3I9	OTTHUMG00000163122	ENST00000521850.1:c.182A>G	5.37:g.169672990A>G	ENSP00000428956:p.Asp61Gly					C5orf58_uc003mal.2_Intron	p.D61G	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN			4	265	+			61						Missense_Mutation	SNP	ENST00000521850.1	37	c.182A>G	CCDS47338.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505468	0.44558	.	.	ENSG00000234511	ENST00000521850	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	T	0.54759	0.1878	N	0.19112	0.55	0.31314	N	0.686849	D	0.89917	1.0	D	0.97110	1.0	T	0.61623	-0.7025	8	0.87932	D	0	.	13.6153	0.62103	1.0:0.0:0.0:0.0	.	61	C9J3I9	CE058_HUMAN	G	61	.	ENSP00000428956:D61G	D	+	2	0	C5orf58	169605568	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	5.435000	0.66532	2.234000	0.73211	0.533000	0.62120	GAC		0.348	C5orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371739.1	NM_001102609		14	169	0	0	0	0.00499	0	14	169				
FGF18	8817	broad.mit.edu	37	5	170883614	170883614	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:170883614G>A	ENST00000274625.5	+	5	973	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	143					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.S143S(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCTGATGTCGGCTAAGTACT	0.602																																							uc003mbk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)TCG>TCA		fibroblast growth factor 18 precursor							96.0	97.0	96.0					5																	170883614		2203	4300	6503	SO:0001819	synonymous_variant	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883614G>A	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.429G>A	5.37:g.170883614G>A							p.S143S	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	966	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	143					D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.429G>A	CCDS4378.1																																																																																				0.602	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		14	97	0	0	0	0.003163	0	14	97				
STC2	8614	broad.mit.edu	37	5	172753012	172753012	+	Splice_Site	SNP	C	C	T	rs145449570	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:172753012C>T	ENST00000265087.4	-	2	1462	c.153G>A	c.(151-153)gcG>gcA	p.A51A	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	51					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.A51A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGGATCTCCGCTAAAAGGA	0.413													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18419	0.0		0.0	False		,,,				2504	0.0						uc003mco.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(151-153)GCG>GCA		stanniocalcin 2 precursor		C		7,4399	12.9+/-30.5	0,7,2196	129.0	138.0	135.0		153	1.5	1.0	5	dbSNP_134	135	0,8600		0,0,4300	yes	coding-synonymous-near-splice	STC2	NM_003714.2		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		51/303	172753012	7,12999	2203	4300	6503	SO:0001630	splice_region_variant	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172753012C>T	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.152-1G>A	5.37:g.172753012C>T						STC2_uc003mcn.1_5'UTR	p.A51A	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1463	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	51						Silent	SNP	ENST00000265087.4	37	c.153G>A	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806317	0.50421	0.001589	0.0	ENSG00000113739	ENST00000520648	.	.	.	5.6	1.53	0.23141	.	.	.	.	.	T	0.44138	0.1279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22906	-1.0203	4	.	.	.	.	2.9791	0.05947	0.3091:0.3722:0.235:0.0836	.	.	.	.	R	5	.	.	G	-	1	0	STC2	172685618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.019000	0.30014	0.286000	0.22352	0.655000	0.94253	GGA		0.413	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714	Silent	41	107	0	0	0	0.009718	0	41	107				
DRD1	1812	broad.mit.edu	37	5	174869611	174869611	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:174869611G>T	ENST00000393752.2	-	2	1484	c.492C>A	c.(490-492)caC>caA	p.H164Q		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	164					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.H164Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTTTTGCCTTGTGCCAGCTGA	0.527																																							uc003mcz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(490-492)CAC>CAA		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						144.0	139.0	141.0					5																	174869611		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869611G>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.492C>A	5.37:g.174869611G>T	ENSP00000377353:p.His164Gln						p.H164Q	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1437	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	164			Extracellular (Potential).		B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.492C>A	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381642	0.61845	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.70986	-0.53	5.55	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82275	-0.0538	10	0.59425	D	0.04	.	12.0517	0.53511	0.1473:0.0:0.8527:0.0	.	164	P21728	DRD1_HUMAN	Q	164	ENSP00000377353:H164Q	ENSP00000327652:H164Q	H	-	3	2	DRD1	174802217	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.401000	0.52601	1.488000	0.48433	0.655000	0.94253	CAC		0.527	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		27	66	1	0	1.42536e-11	0.004656	2.13942e-11	27	66				
CPLX2	10814	broad.mit.edu	37	5	175306929	175306929	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:175306929C>G	ENST00000359546.4	+	5	929	c.286C>G	c.(286-288)Cgg>Ggg	p.R96G	CPLX2_ENST00000393745.3_Missense_Mutation_p.R96G|CPLX2_ENST00000515094.1_Missense_Mutation_p.R96G	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	96	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)		p.R96G(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCCTGACCCGGCCCAAGAA	0.652																																							uc003mde.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(286-288)CGG>GGG		complexin 2							33.0	39.0	37.0					5																	175306929		2203	4300	6503	SO:0001583	missense	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306929C>G	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.286C>G	5.37:g.175306929C>G	ENSP00000352544:p.Arg96Gly					CPLX2_uc003mdf.1_Missense_Mutation_p.R96G	p.R96G	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	632	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	96			Interaction with the SNARE complex (By similarity).		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	c.286C>G	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	c	18.12	3.552348	0.65311	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000514150;ENST00000515094	.	.	.	5.27	4.39	0.52855	.	0.000000	0.85682	U	0.000000	T	0.67420	0.2891	L	0.52206	1.635	0.80722	D	1	D	0.58268	0.982	D	0.74023	0.982	T	0.62765	-0.6785	9	0.20046	T	0.44	.	13.2253	0.59911	0.1598:0.8402:0.0:0.0	.	96	Q6PUV4	CPLX2_HUMAN	G	96	.	ENSP00000352544:R96G	R	+	1	2	CPLX2	175239535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.836000	0.62789	1.190000	0.43042	0.552000	0.68991	CGG		0.652	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			12	20	0	0	0	0.00245	0	12	20				
SIMC1	375484	broad.mit.edu	37	5	175751758	175751758	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:175751758G>C	ENST00000443967.1	+	9	2519	c.2112G>C	c.(2110-2112)caG>caC	p.Q704H	SIMC1_ENST00000332772.4_Missense_Mutation_p.Q165H|SIMC1_ENST00000430704.2_Missense_Mutation_p.Q289H|SIMC1_ENST00000341199.6_Missense_Mutation_p.Q289H			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	704							SUMO polymer binding (GO:0032184)	p.Q704H(1)									AGAGGAGCCAGAGGTGAGTCT	0.398																																							uc003mds.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2110-2112)CAG>CAC		RecName: Full=Uncharacterized protein C5orf25;							80.0	71.0	74.0					5																	175751758		2201	4300	6501	SO:0001583	missense	375484							g.chr5:175751758G>C	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2112G>C	5.37:g.175751758G>C	ENSP00000406571:p.Gln704His					C5orf25_uc003mdt.3_Missense_Mutation_p.Q289H|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Missense_Mutation_p.Q165H	p.Q704H			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	9	2519	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	704					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2112G>C		.	.	.	.	.	.	.	.	.	.	G	9.723	1.160106	0.21454	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.34275	1.79;1.79;2.06;1.37	5.16	1.44	0.22558	.	0.150459	0.45606	D	0.000343	T	0.49609	0.1567	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.998	D;D;D	0.80764	0.994;0.991;0.994	T	0.40664	-0.9551	10	0.72032	D	0.01	-13.1619	10.684	0.45833	0.2845:0.0:0.7155:0.0	.	165;289;704	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	H	289;289;704;165	ENSP00000342075:Q289H;ENSP00000409287:Q289H;ENSP00000406571:Q704H;ENSP00000331311:Q165H	ENSP00000331311:Q165H	Q	+	3	2	C5orf25	175684364	0.998000	0.40836	0.994000	0.49952	0.150000	0.21749	0.141000	0.16076	-0.107000	0.12088	-1.094000	0.02160	CAG		0.398	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		3	5	0	0	0	0.009096	0	3	5				
TMED9	54732	broad.mit.edu	37	5	177019267	177019267	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:177019267C>T	ENST00000332598.6	+	1	109	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	18					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)	p.L18L(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			CGGAACCGGGCTGGGTAGAGT	0.682																																							uc003mhx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)CTG>TTG		transmembrane emp24 protein transport domain							12.0	16.0	14.0					5																	177019267		2193	4292	6485	SO:0001819	synonymous_variant	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177019267C>T	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.52C>T	5.37:g.177019267C>T						TMED9_uc010jko.2_RNA	p.L18L	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	55	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	18					Q14437|Q8WZ61	Silent	SNP	ENST00000332598.6	37	c.52C>T	CCDS4428.1																																																																																				0.682	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		4	7	0	0	0	0.000602	0	4	7				
HNRNPH1	3187	broad.mit.edu	37	5	179050070	179050070	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:179050070C>T	ENST00000356731.5	-	1	1600	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.C22Y|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.C22Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	22	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.C22Y(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ATCGGCCGAGCAAGACCAGGG	0.627																																							uc003mkf.3		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(64-66)TGC>TAC		heterogeneous nuclear ribonucleoprotein H1							86.0	73.0	77.0					5																	179050070		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179050070C>T	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.65G>A	5.37:g.179050070C>T	ENSP00000349168:p.Cys22Tyr					HNRNPH1_uc003mkg.3_5'UTR|HNRNPH1_uc003mke.3_Missense_Mutation_p.C22Y|HNRNPH1_uc003mkh.3_Missense_Mutation_p.C22Y	p.C22Y	NM_005520	NP_005511	P31943	HNRH1_HUMAN			2	171	-			22			RRM 1.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.65G>A	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.068589	0.76301	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664;ENST00000522256	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;1.56;3.2;3.2;3.2;3.2;3.2;1.56	3.58	3.58	0.41010	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.047074	0.85682	D	0.000000	T	0.56352	0.1979	H	0.95437	3.67	0.80722	D	1	B	0.18968	0.032	B	0.38921	0.285	T	0.66885	-0.5810	10	0.59425	D	0.04	-3.3695	15.1215	0.72447	0.0:1.0:0.0:0.0	.	22	P31943	HNRH1_HUMAN	Y	22	ENSP00000377082:C22Y;ENSP00000397797:C22Y;ENSP00000349168:C22Y;ENSP00000327539:C22Y;ENSP00000426275:C22Y;ENSP00000427408:C22Y;ENSP00000425732:C22Y;ENSP00000420850:C22Y;ENSP00000427986:C22Y;ENSP00000424087:C22Y;ENSP00000423140:C22Y;ENSP00000430970:C22Y;ENSP00000427388:C22Y;ENSP00000426518:C22Y;ENSP00000421695:C22Y;ENSP00000429661:C22Y;ENSP00000425343:C22Y;ENSP00000426726:C22Y	ENSP00000327539:C22Y	C	-	2	0	HNRNPH1	178982676	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.492000	0.66893	1.699000	0.51192	0.491000	0.48974	TGC		0.627	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		18	41	0	0	0	0.006122	0	18	41				
FLT4	2324	broad.mit.edu	37	5	180048740	180048740	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:180048740G>A	ENST00000261937.6	-	13	1900	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F	FLT4_ENST00000502649.1_Missense_Mutation_p.L608F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.L608F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	608	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L608F(2)|p.L418F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCAGTCGAGCAGAAGCGGG	0.657																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1822-1824)CTC>TTC		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						68.0	58.0	62.0					5																	180048740		2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048740G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1822C>T	5.37:g.180048740G>A	ENSP00000261937:p.Leu608Phe					FLT4_uc003mlz.3_Missense_Mutation_p.L608F|FLT4_uc003mmb.1_Missense_Mutation_p.L141F|FLT4_uc011dgy.1_Missense_Mutation_p.L608F	p.L608F	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1901	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	608			Ig-like C2-type 6.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1822C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227669	0.79576	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78246	-1.16;-1.15;-1.15	4.64	4.64	0.57946	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.	.	.	.	D	0.85579	0.5729	M	0.69823	2.125	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.99;0.995;0.99	D	0.84449	0.0587	9	0.35671	T	0.21	.	12.384	0.55323	0.0823:0.0:0.9177:0.0	.	608;418;608;608	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	F	608;608;608;418	ENSP00000261937:L608F;ENSP00000377016:L608F;ENSP00000426057:L608F	ENSP00000261937:L608F	L	-	1	0	FLT4	179981346	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.421000	0.80204	2.300000	0.77407	0.561000	0.74099	CTC		0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	26	0	0	0	0.008291	0	11	26				
FLT4	2324	broad.mit.edu	37	5	180051011	180051011	+	Missense_Mutation	SNP	G	G	T	rs146167161	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:180051011G>T	ENST00000261937.6	-	11	1550	c.1472C>A	c.(1471-1473)gCg>gAg	p.A491E	FLT4_ENST00000502649.1_Missense_Mutation_p.A491E|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A491E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	491	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGGTCACCGCCCTCCAGTC	0.637																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1471-1473)GCG>GAG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						79.0	65.0	70.0					5																	180051011		2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180051011G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1472C>A	5.37:g.180051011G>T	ENSP00000261937:p.Ala491Glu					FLT4_uc003mlz.3_Missense_Mutation_p.A491E|FLT4_uc003mmb.1_Missense_Mutation_p.A24E|FLT4_uc011dgy.1_Missense_Mutation_p.A491E	p.A491E	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	11	1551	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	491			Ig-like C2-type 5.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1472C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597713	0.00857	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.94537	-3.45;-3.45;-3.45	4.72	2.24	0.28232	Immunoglobulin subtype (1);Immunoglobulin-like (1);	.	.	.	.	T	0.73040	0.3536	N	0.00159	-1.955	0.25806	N	0.984457	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.0;0.004;0.004	T	0.67787	-0.5580	9	0.02654	T	1	.	8.2106	0.31481	0.1307:0.0:0.1422:0.7271	.	491;301;491;491	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	E	491;491;491;301	ENSP00000261937:A491E;ENSP00000377016:A491E;ENSP00000426057:A491E	ENSP00000261937:A491E	A	-	2	0	FLT4	179983617	1.000000	0.71417	0.977000	0.42913	0.001000	0.01503	3.322000	0.52007	0.269000	0.21961	-1.566000	0.00877	GCG		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			13	36	1	0	5.50884e-06	0.001368	6.74373e-06	13	36				
EXOC2	55770	broad.mit.edu	37	6	572554	572554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:572554C>T	ENST00000230449.4	-	13	1544	c.1409G>A	c.(1408-1410)tGg>tAg	p.W470*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.W65*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	470					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W470*(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTAGGAGATCCAGAGTTTCCA	0.478																																							uc003mtd.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(4)|ovary(2)|pancreas(1)	7						c.(1408-1410)TGG>TAG		Sec5 protein							101.0	93.0	96.0					6																	572554		2203	4300	6503	SO:0001587	stop_gained	55770				exocytosis|protein transport			g.chr6:572554C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1409G>A	6.37:g.572554C>T	ENSP00000230449:p.Trp470*					EXOC2_uc003mte.2_Nonsense_Mutation_p.W470*|EXOC2_uc011dho.1_Nonsense_Mutation_p.W65*	p.W470*	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	13	1543	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	470					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Nonsense_Mutation	SNP	ENST00000230449.4	37	c.1409G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	39	7.764358	0.98477	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-15.0326	18.3369	0.90291	0.0:1.0:0.0:0.0	.	.	.	.	X	470;65	.	ENSP00000230449:W470X	W	-	2	0	EXOC2	517554	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.391000	0.79828	2.379000	0.81126	0.563000	0.77884	TGG		0.478	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		16	53	0	0	0	0.00499	0	16	53				
SERPINB9	5272	broad.mit.edu	37	6	2900746	2900746	+	Missense_Mutation	SNP	T	T	C	rs368508487		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:2900746T>C	ENST00000380698.4	-	2	189	c.100A>G	c.(100-102)Agc>Ggc	p.S34G		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	34					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S34G(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGGAGATGCTCACAGGAGAA	0.522																																							uc003mug.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(100-102)AGC>GGC		serpin peptidase inhibitor, clade B, member 9		T	GLY/SER	0,4406		0,0,2203	220.0	200.0	207.0		100	5.4	0.9	6		207	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB9	NM_004155.4	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	34/377	2900746	1,13005	2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2900746T>C	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.100A>G	6.37:g.2900746T>C	ENSP00000370074:p.Ser34Gly					uc003mue.2_RNA|SERPINB9_uc003muh.2_Missense_Mutation_p.S34G	p.S34G	NM_004155	NP_004146	P50453	SPB9_HUMAN			2	221	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	34					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.100A>G	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065699	0.55539	0.0	1.16E-4	ENSG00000170542	ENST00000380698	D	0.88586	-2.4	5.37	5.37	0.77165	Serpin domain (3);	0.035900	0.85682	D	0.000000	D	0.93074	0.7795	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.93443	0.6795	10	0.52906	T	0.07	.	14.8777	0.70507	0.0:0.0:0.0:1.0	.	34	P50453	SPB9_HUMAN	G	34	ENSP00000370074:S34G	ENSP00000370074:S34G	S	-	1	0	SERPINB9	2845745	1.000000	0.71417	0.948000	0.38648	0.019000	0.09904	7.412000	0.80091	2.158000	0.67659	0.533000	0.62120	AGC		0.522	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			64	118	0	0	0	0.00361	0	64	118				
RBM24	221662	broad.mit.edu	37	6	17292055	17292055	+	Missense_Mutation	SNP	C	C	A	rs374105451		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:17292055C>A	ENST00000379052.5	+	4	652	c.416C>A	c.(415-417)cCg>cAg	p.P139Q	RBM24_ENST00000425446.2_Missense_Mutation_p.P81Q|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Missense_Mutation_p.P94Q	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	139					cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.P94Q(1)|p.P139Q(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CACGTCCAGCCGACAGCAGCT	0.577																																							uc003nbz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(415-417)CCG>CAG		RNA binding motif protein 24 isoform 1							80.0	94.0	89.0					6																	17292055		2182	4296	6478	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292055C>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.416C>A	6.37:g.17292055C>A	ENSP00000368341:p.Pro139Gln					RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.P81Q|RBM24_uc003nca.2_Missense_Mutation_p.P94Q|RBM24_uc011diy.1_Silent_p.R53R|RBM24_uc011diz.1_Silent_p.R38R	p.P139Q	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	420	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	139					E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.416C>A	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128425	0.56721	.	.	ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204	T;T;T	0.19532	2.28;2.14;2.14	5.71	5.71	0.89125	.	0.112575	0.64402	D	0.000009	T	0.07098	0.0180	N	0.19112	0.55	0.80722	D	1	B;B	0.34372	0.451;0.19	B;B	0.26864	0.074;0.018	T	0.18681	-1.0329	10	0.28530	T	0.3	-8.3959	18.0219	0.89257	0.0:1.0:0.0:0.0	.	94;139	Q9BX46-2;Q9BX46	.;RBM24_HUMAN	Q	139;81;94	ENSP00000368341:P139Q;ENSP00000396898:P81Q;ENSP00000319551:P94Q	ENSP00000319551:P94Q	P	+	2	0	RBM24	17400034	1.000000	0.71417	0.666000	0.29783	0.991000	0.79684	7.302000	0.78861	2.695000	0.91970	0.591000	0.81541	CCG		0.577	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		41	120	1	0	1.32136e-16	0.00874	2.20226e-16	41	120				
CAP2	10486	broad.mit.edu	37	6	17421832	17421832	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:17421832A>G	ENST00000229922.2	+	2	578	c.46A>G	c.(46-48)Agc>Ggc	p.S16G	CAP2_ENST00000493172.1_Missense_Mutation_p.S16G|CAP2_ENST00000378990.2_Missense_Mutation_p.S16G|CAP2_ENST00000465994.1_Missense_Mutation_p.S16G|CAP2_ENST00000489374.1_Missense_Mutation_p.S16G	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	16					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.S16G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACGAGCTGTCAGCCGCCTGGA	0.557																																							uc003ncb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)AGC>GGC		adenylyl cyclase-associated protein 2							124.0	124.0	124.0					6																	17421832		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17421832A>G	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.46A>G	6.37:g.17421832A>G	ENSP00000229922:p.Ser16Gly					CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.S16G|CAP2_uc011djb.1_Missense_Mutation_p.S16G|CAP2_uc011djc.1_Missense_Mutation_p.S16G|CAP2_uc011djd.1_Missense_Mutation_p.S16G	p.S16G	NM_006366	NP_006357	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		2	289	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	16					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.46A>G	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	A	4.749	0.139205	0.09083	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	5.42	-1.18	0.09617	Adenylate cyclase-associated CAP, N-terminal (1);CAP, conserved site (1);	0.734122	0.14108	N	0.340930	T	0.02230	0.0069	L	0.35644	1.08	0.09310	N	0.999993	B;B;B;B;B	0.12630	0.0;0.006;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.0;0.006;0.0;0.0;0.0	T	0.45934	-0.9227	10	0.17832	T	0.49	-0.5581	3.3812	0.07255	0.5082:0.0:0.1573:0.3345	.	16;16;16;16;16	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	G	16	ENSP00000229922:S16G;ENSP00000417705:S16G;ENSP00000368275:S16G;ENSP00000417208:S16G;ENSP00000418604:S16G	ENSP00000229922:S16G	S	+	1	0	CAP2	17529811	0.962000	0.33011	0.956000	0.39512	0.882000	0.50991	0.523000	0.22925	-0.040000	0.13580	0.533000	0.62120	AGC		0.557	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			14	123	0	0	0	0.001855	0	14	123				
HIST1H2AE	3012	broad.mit.edu	37	6	26217275	26217275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:26217275C>T	ENST00000303910.2	+	1	111	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q25*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GGCCGGTCTTCAGTTTCCAGT	0.577																																							uc003nha.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(73-75)CAG>TAG		histone cluster 1, H2ae							63.0	54.0	57.0					6																	26217275		2203	4299	6502	SO:0001587	stop_gained	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217275C>T	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.73C>T	6.37:g.26217275C>T	ENSP00000303373:p.Gln25*					HIST1H2BG_uc003ngz.2_5'Flank	p.Q25*	NM_021052	NP_066390	P04908	H2A1B_HUMAN			1	128	+		all_hematologic(11;0.196)	25					P28001|Q76P63	Nonsense_Mutation	SNP	ENST00000303910.2	37	c.73C>T	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.973481	0.53720	.	.	ENSG00000168274	ENST00000303910	.	.	.	3.99	3.99	0.46301	.	0.000000	0.32671	U	0.005797	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5885	0.76506	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000303373:Q25X	Q	+	1	0	HIST1H2AE	26325254	1.000000	0.71417	0.919000	0.36401	0.044000	0.14063	7.467000	0.80930	2.219000	0.72066	0.591000	0.81541	CAG		0.577	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		6	49	0	0	0	0.001168	0	6	49				
HIST1H3F	8968	broad.mit.edu	37	6	26250535	26250535	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:26250535T>A	ENST00000446824.2	-	1	300	c.299A>T	c.(298-300)tAc>tTc	p.Y100F	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	100				Y -> T (in Ref. 7; CAB02546). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.Y100F(1)		lung(6)|urinary_tract(1)	7						CCCCACCAGGTAAGCCTCGCA	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003nhg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TAC>TTC		histone cluster 1, H3f							103.0	102.0	102.0					6																	26250535		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250535T>A	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.299A>T	6.37:g.26250535T>A	ENSP00000444823:p.Tyr100Phe		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H2BH_uc003nhh.2_5'Flank	p.Y100F	NM_021018	NP_066298	P68431	H31_HUMAN			1	301	-			100	Y -> T (in Ref. 7; CAB02546).				A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.299A>T	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	15.96	2.987369	0.53934	.	.	ENSG00000256316	ENST00000446824	T	0.37235	1.21	4.82	4.82	0.62117	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.38713	D	0.953276	.	.	.	.	.	.	T	0.50268	-0.8848	6	0.72032	D	0.01	.	14.2481	0.66001	0.0:0.0:0.0:1.0	.	.	.	.	F	100	ENSP00000444823:Y100F	ENSP00000444823:Y100F	Y	-	2	0	HIST1H3F	26358514	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	6.165000	0.71891	2.103000	0.63969	0.459000	0.35465	TAC		0.612	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		11	119	0	0	0	0.001855	0	11	119				
HIST1H2BH	8345	broad.mit.edu	37	6	26252083	26252083	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:26252083G>C	ENST00000356350.2	+	1	205	c.205G>C	c.(205-207)Gat>Cat	p.D69H	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	69					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D69H(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CTTTGTCAACGATATCTTCGA	0.567																																							uc003nhh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(205-207)GAT>CAT		histone cluster 1, H2bh							127.0	123.0	124.0					6																	26252083		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252083G>C	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.205G>C	6.37:g.26252083G>C	ENSP00000348706:p.Asp69His					HIST1H3F_uc003nhg.1_5'Flank	p.D69H	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	205	+			69					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.205G>C	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	17.90	3.503090	0.64298	.	.	ENSG00000197459	ENST00000356350	T	0.30182	1.54	4.65	4.65	0.58169	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.61451	0.2348	H	0.98883	4.36	0.42167	D	0.991629	P	0.40144	0.704	P	0.51079	0.658	T	0.75648	-0.3245	9	0.66056	D	0.02	.	17.3874	0.87420	0.0:0.0:1.0:0.0	.	69	Q93079	H2B1H_HUMAN	H	69	ENSP00000348706:D69H	ENSP00000348706:D69H	D	+	1	0	HIST1H2BH	26360062	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	6.449000	0.73473	2.513000	0.84729	0.591000	0.81541	GAT		0.567	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		64	121	0	0	0	0.00361	0	64	121				
PRSS16	10279	broad.mit.edu	37	6	27222785	27222785	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:27222785G>C	ENST00000230582.3	+	11	1366	c.1351G>C	c.(1351-1353)Gtg>Ctg	p.V451L	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.V194L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	451					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.V451L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCCTGGCATGTGCTAAGTGT	0.547																																					NSCLC(178;1118 2105 17078 23587 44429)	NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1351-1353)GTG>CTG		protease, serine, 16 precursor							126.0	132.0	130.0					6																	27222785		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222785G>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1351G>C	6.37:g.27222785G>C	ENSP00000230582:p.Val451Leu					PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.V194L|PRSS16_uc003njd.2_RNA	p.V451L	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			11	1363	+			451					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1351G>C	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450929	0.63290	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.15017	2.46;2.46	4.64	3.77	0.43336	.	0.258408	0.36972	N	0.002315	T	0.09598	0.0236	L	0.53249	1.67	0.26299	N	0.978008	P;P	0.45348	0.856;0.856	B;P	0.46718	0.395;0.525	T	0.11591	-1.0581	10	0.23891	T	0.37	-1.7394	10.6914	0.45872	0.0939:0.0:0.9061:0.0	.	194;451	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	L	194;451	ENSP00000404349:V194L;ENSP00000230582:V451L	ENSP00000230582:V451L	V	+	1	0	PRSS16	27330764	0.999000	0.42202	0.994000	0.49952	0.970000	0.65996	2.051000	0.41307	1.342000	0.45619	0.552000	0.68991	GTG		0.547	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			50	191	0	0	0	0.00361	0	50	191				
ZKSCAN4	387032	broad.mit.edu	37	6	28217492	28217492	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:28217492G>C	ENST00000377294.2	-	2	787	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L27V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	182					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L182V(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGGGATCCCAGAGATTCATGC	0.433																																							uc003nks.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(544-546)CTG>GTG		zinc finger with KRAB and SCAN domains 4							200.0	183.0	189.0					6																	28217492		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28217492G>C	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.544C>G	6.37:g.28217492G>C	ENSP00000366509:p.Leu182Val					ZKSCAN4_uc011dlb.1_Missense_Mutation_p.L27V	p.L182V	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			2	788	-			182					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.544C>G	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	G	2.852	-0.238052	0.05944	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.05925	3.37;3.39	3.7	1.88	0.25563	.	.	.	.	.	T	0.01287	0.0042	L	0.27053	0.805	0.22511	N	0.999034	B	0.13145	0.007	B	0.15052	0.012	T	0.47686	-0.9098	9	0.28530	T	0.3	.	5.1157	0.14833	0.1162:0.2134:0.6704:0.0	.	182	Q969J2	ZKSC4_HUMAN	V	182;27	ENSP00000366509:L182V;ENSP00000401978:L27V	ENSP00000366509:L182V	L	-	1	2	ZKSCAN4	28325471	0.167000	0.22975	0.989000	0.46669	0.992000	0.81027	1.192000	0.32150	0.515000	0.28320	-0.136000	0.14681	CTG		0.433	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		14	135	0	0	0	0.001855	0	14	135				
NKAPL	222698	broad.mit.edu	37	6	28227250	28227250	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:28227250G>C	ENST00000343684.3	+	1	153	c.101G>C	c.(100-102)tGt>tCt	p.C34S	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	34								p.C34S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAGAGCAGATGTTCCTCTTGG	0.637																																							uc003nkt.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(100-102)TGT>TCT		NFKB activating protein-like							41.0	41.0	41.0					6																	28227250		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227250G>C	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.101G>C	6.37:g.28227250G>C	ENSP00000345716:p.Cys34Ser					ZKSCAN4_uc011dlb.1_5'Flank	p.C34S	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	153	+			34					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.101G>C	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386159	0.04966	.	.	ENSG00000189134	ENST00000343684	T	0.12255	2.7	4.11	0.257	0.15574	.	0.999489	0.08098	N	0.998343	T	0.01695	0.0054	N	0.22421	0.69	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.46484	-0.9188	10	0.07030	T	0.85	0.452	3.7932	0.08728	0.3165:0.1837:0.4998:0.0	.	34	Q5M9Q1	NKAPL_HUMAN	S	34	ENSP00000345716:C34S	ENSP00000345716:C34S	C	+	2	0	NKAPL	28335229	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.610000	0.24253	-0.082000	0.12640	0.655000	0.94253	TGT		0.637	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			16	39	0	0	0	0.003163	0	16	39				
ZSCAN31	64288	broad.mit.edu	37	6	28297162	28297162	+	Missense_Mutation	SNP	C	C	G	rs192606380		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:28297162C>G	ENST00000414429.1	-	6	1202	c.299G>C	c.(298-300)cGg>cCg	p.R100P	ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.R100P|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.R100P|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.R100P			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	100	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R100L(1)|p.R100P(1)									ATGGTGCTCCCGCACCCAGGC	0.562																																						Colon(115;1052 1587 16954 47314 53012)	uc003nla.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(298-300)CGG>CCG		zinc finger protein 323							126.0	141.0	136.0					6																	28297162		2203	4300	6503	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28297162C>G		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.299G>C	6.37:g.28297162C>G	ENSP00000390076:p.Arg100Pro					ZNF323_uc003nld.2_Missense_Mutation_p.R100P|ZNF323_uc010jra.2_Missense_Mutation_p.R100P|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.R100P	p.R100P	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			2	699	-			100			SCAN box.		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.299G>C	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824764	0.71143	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222	T;T;T;T;T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57	4.76	-3.95	0.04118	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.07908	0.0198	H	0.96365	3.81	0.09310	N	1	P	0.39094	0.659	B	0.43838	0.433	T	0.03025	-1.1081	9	0.72032	D	0.01	.	12.205	0.54346	0.0:0.3348:0.0:0.6652	.	100	Q96LW9	ZN323_HUMAN	P	100	ENSP00000380050:R100P;ENSP00000413705:R100P;ENSP00000390076:R100P;ENSP00000345339:R100P;ENSP00000389479:R100P;ENSP00000412519:R100P;ENSP00000416108:R100P;ENSP00000406376:R100P;ENSP00000411033:R100P	ENSP00000345339:R100P	R	-	2	0	ZNF323	28405141	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-0.475000	0.06599	-0.839000	0.04212	0.563000	0.77884	CGG		0.562	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		112	176	0	0	0	0.00361	0	112	176				
NOTCH4	4855	broad.mit.edu	37	6	32163899	32163899	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:32163899C>T	ENST00000375023.3	-	30	5465	c.5327G>A	c.(5326-5328)cGg>cAg	p.R1776Q	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Silent_p.A152A	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1776					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R1776Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGCTCCTTCCCGCGCCGCCAG	0.672																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(5326-5328)CGG>CAG		notch4 preproprotein							8.0	10.0	9.0					6																	32163899		1383	2617	4000	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163899C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5327G>A	6.37:g.32163899C>T	ENSP00000364163:p.Arg1776Gln					GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Silent_p.A152A|NOTCH4_uc003oba.2_Missense_Mutation_p.R436Q|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_3'UTR	p.R1776Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			30	5466	-			1776			ANK 5.|Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5327G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	37	5.994342	0.97184	.	.	ENSG00000204301	ENST00000375023	T	0.65549	-0.16	4.95	4.95	0.65309	Ankyrin repeat-containing domain (4);	0.000000	0.38058	N	0.001832	T	0.71384	0.3333	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.923;0.99	T	0.73694	-0.3902	10	0.87932	D	0	.	16.0736	0.80951	0.0:1.0:0.0:0.0	.	1776;1775	Q99466;B0S882	NOTC4_HUMAN;.	Q	1776	ENSP00000364163:R1776Q	ENSP00000364163:R1776Q	R	-	2	0	NOTCH4	32271877	0.758000	0.28405	0.992000	0.48379	0.943000	0.58893	5.489000	0.66875	2.744000	0.94065	0.563000	0.77884	CGG		0.672	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	8	0	0	0	0.009096	0	4	8				
HLA-DPB1	3115	broad.mit.edu	37	6	33052926	33052926	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:33052926G>T	ENST00000418931.2	+	3	680	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	188	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)	p.L188L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGGTGATGCTGGAAATGACCC	0.562																																							uc003ocu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(562-564)CTG>CTT		major histocompatibility complex, class II, DP							117.0	111.0	113.0					6																	33052926		1511	2709	4220	SO:0001819	synonymous_variant	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33052926G>T		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.564G>T	6.37:g.33052926G>T						HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Silent_p.L187L|HLA-DPB1_uc011dqq.1_Silent_p.L84L	p.L188L	NM_002121	NP_002112	P04440	DPB1_HUMAN			3	623	+			188			Beta-2.|Ig-like C1-type.|Extracellular (Potential).		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Silent	SNP	ENST00000418931.2	37	c.564G>T	CCDS4765.1	.	.	.	.	.	.	.	.	.	.	G	8.629	0.893300	0.17613	.	.	ENSG00000223865	ENST00000416804	.	.	.	3.93	3.06	0.35304	.	.	.	.	.	T	0.46386	0.1390	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42515	-0.9447	4	.	.	.	.	9.7616	0.40534	0.1044:0.0:0.8956:0.0	.	.	.	.	L	155	.	.	W	+	2	0	HLA-DPB1	33160904	1.000000	0.71417	0.920000	0.36463	0.978000	0.69477	6.039000	0.70972	1.009000	0.39289	-0.271000	0.10264	TGG		0.562	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		54	75	1	0	1.0442e-30	0.00361	1.94446e-30	54	75				
DAXX	1616	broad.mit.edu	37	6	33287597	33287597	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:33287597T>C	ENST00000374542.5	-	6	1704	c.1500A>G	c.(1498-1500)ctA>ctG	p.L500L	DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Silent_p.L500L|DAXX_ENST00000414083.2_Silent_p.L425L|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	500	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.L500L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGGAGATCTGTAGTGAGGACA	0.478			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																		uc003oec.2		NA		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		1	Substitution - coding silent(1)		lung(1)	pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(1498-1500)CTA>CTG		death-domain associated protein isoform a							69.0	65.0	66.0					6																	33287597		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287597T>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1500A>G	6.37:g.33287597T>C						ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.L425L|DAXX_uc011dre.1_Silent_p.L512L|DAXX_uc003oed.2_Silent_p.L500L	p.L500L	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			6	1704	-			500			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1500A>G	CCDS4776.1																																																																																				0.478	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			27	53	0	0	0	0.005443	0	27	53				
UHRF1BP1	54887	broad.mit.edu	37	6	34826039	34826039	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:34826039C>T	ENST00000192788.5	+	14	2077	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R636W	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	636							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.R636W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAGTCTCTTCCGGGGTTTTGC	0.488																																							uc003oju.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1906-1908)CGG>TGG		ICBP90 binding protein 1							168.0	160.0	163.0					6																	34826039		1944	4134	6078	SO:0001583	missense	54887							g.chr6:34826039C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1906C>T	6.37:g.34826039C>T	ENSP00000192788:p.Arg636Trp					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.R636W	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2140	+			636					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1906C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145927	0.57044	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08984	3.03;3.03	5.65	4.77	0.60923	.	0.353337	0.30383	N	0.009756	T	0.06554	0.0168	L	0.54323	1.7	0.38068	D	0.936273	D	0.62365	0.991	B	0.43623	0.425	T	0.08848	-1.0702	10	0.87932	D	0	-17.0182	16.1044	0.81212	0.1345:0.8655:0.0:0.0	.	636	Q6BDS2	URFB1_HUMAN	W	636	ENSP00000192788:R636W;ENSP00000400628:R636W	ENSP00000192788:R636W	R	+	1	2	UHRF1BP1	34934017	0.997000	0.39634	1.000000	0.80357	0.944000	0.59088	0.870000	0.28010	1.340000	0.45581	0.655000	0.94253	CGG		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		57	92	0	0	0	0.00361	0	57	92				
KIF6	221458	broad.mit.edu	37	6	39507930	39507930	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:39507930C>A	ENST00000287152.7	-	13	1588	c.1494G>T	c.(1492-1494)atG>atT	p.M498I	KIF6_ENST00000373215.3_Missense_Mutation_p.M498I|KIF6_ENST00000373216.3_Missense_Mutation_p.M498I|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Missense_Mutation_p.M337I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	498					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M498I(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACGTCTATCCATGCCAGCCA	0.478																																							uc003oot.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.(1492-1494)ATG>ATT		kinesin family member 6							177.0	178.0	178.0					6																	39507930		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507930C>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1494G>T	6.37:g.39507930C>A	ENSP00000287152:p.Met498Ile					KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.M289I|KIF6_uc011dua.1_Missense_Mutation_p.M498I|KIF6_uc010jxb.1_Intron	p.M498I	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			13	1589	-			498					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1494G>T	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.45|10.45	1.353133|1.353133	0.24512|0.24512	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215|ENST00000458470	T;T;T;T|.	0.69806|.	-0.43;-0.43;-0.24;-0.43|.	6.04|6.04	0.5|0.5	0.16919|0.16919	.|.	.|.	.|.	.|.	.|.	T|T	0.07458|0.07458	0.0188|0.0188	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.001;0.002;0.0|.	B;B;B|.	0.10450|.	0.005;0.001;0.002|.	T|T	0.33343|0.33343	-0.9872|-0.9872	9|5	0.37606|.	T|.	0.19|.	.|.	1.557|1.557	0.02586|0.02586	0.2837:0.4114:0.1385:0.1664|0.2837:0.4114:0.1385:0.1664	.|.	498;498;498|.	E7EUN7;Q6ZMV9-3;Q6ZMV9|.	.;.;KIF6_HUMAN|.	I|L	498;498;337;498|390	ENSP00000287152:M498I;ENSP00000362312:M498I;ENSP00000362309:M337I;ENSP00000362311:M498I|.	ENSP00000287152:M498I|.	M|W	-|-	3|2	0|0	KIF6|KIF6	39615908|39615908	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.199000|0.199000	0.23934|0.23934	-0.112000|-0.112000	0.10791|0.10791	0.393000|0.393000	0.25203|0.25203	0.563000|0.563000	0.77884|0.77884	ATG|TGG		0.478	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		13	241	1	0	2.31682e-05	0.003163	2.7594e-05	13	241				
PTK7	5754	broad.mit.edu	37	6	43109784	43109784	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:43109784G>C	ENST00000230419.4	+	12	2105	c.1884G>C	c.(1882-1884)aaG>aaC	p.K628N	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.K636N|PTK7_ENST00000349241.2_Missense_Mutation_p.K498N|PTK7_ENST00000345201.2_Missense_Mutation_p.K588N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	628	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K628N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGAAAGGCAAGGACCGCATCC	0.662																																							uc003oub.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1882-1884)AAG>AAC		PTK7 protein tyrosine kinase 7 isoform a							66.0	70.0	69.0					6																	43109784		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109784G>C	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1884G>C	6.37:g.43109784G>C	ENSP00000230419:p.Lys628Asn					PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.K588N|PTK7_uc003oue.1_Missense_Mutation_p.K498N|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.K636N|PTK7_uc010jyj.1_Intron	p.K628N	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		12	2082	+			628			Ig-like C2-type 7.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1884G>C	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867581	0.51588	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000345201;ENST00000481273	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.96	-0.124	0.13523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.149485	0.64402	D	0.000010	T	0.36690	0.0976	N	0.01134	-0.995	0.53005	D	0.999964	B;D;D;D	0.71674	0.242;0.998;0.995;0.993	B;D;D;D	0.70487	0.101;0.969;0.948;0.955	T	0.49908	-0.8889	10	0.02654	T	1	.	10.0499	0.42210	0.2528:0.0:0.7472:0.0	.	636;498;588;628	E9PFZ5;Q13308-3;Q13308-2;Q13308	.;.;.;PTK7_HUMAN	N	628;498;588;636	ENSP00000230419:K628N;ENSP00000325462:K498N;ENSP00000325992:K588N;ENSP00000418754:K636N	ENSP00000230418:K628N	K	+	3	2	PTK7	43217762	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.248000	0.32827	-0.008000	0.14320	-0.367000	0.07326	AAG		0.662	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			13	23	0	0	0	0.001855	0	13	23				
C6orf223	221416	broad.mit.edu	37	6	43970830	43970830	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:43970830G>T	ENST00000336600.5	+	4	716	c.696G>T	c.(694-696)gcG>gcT	p.A232A	C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000442114.2_Silent_p.A212A|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	232								p.A232A(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CATCCGCGGCGCTCCGCGGCG	0.662																																							uc003own.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(694-696)GCG>GCT		hypothetical protein LOC221416							19.0	25.0	23.0					6																	43970830		2191	4284	6475	SO:0001819	synonymous_variant	221416							g.chr6:43970830G>T	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.696G>T	6.37:g.43970830G>T						uc003owm.1_Intron|C6orf223_uc003owo.2_Silent_p.A212A	p.A232A	NM_153246	NP_694978	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	714	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		232					E9PB59|Q8N575	Silent	SNP	ENST00000336600.5	37	c.696G>T	CCDS34459.1																																																																																				0.662	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		14	45	1	0	1.37285e-15	0.004007	2.24675e-15	14	45				
GPR115	221393	broad.mit.edu	37	6	47682493	47682493	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:47682493C>T	ENST00000283303.2	+	6	1770	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	GPR115_ENST00000371220.1_Silent_p.V561V|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.V504V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	504					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V504V(2)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAATATTGGTCATTTTCCGTA	0.423																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1510-1512)GTC>GTT		G-protein coupled receptor 115 precursor							205.0	193.0	197.0					6																	47682493		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682493C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1512C>T	6.37:g.47682493C>T						GPR115_uc003oyz.1_Silent_p.V561V|GPR115_uc003ozb.1_Silent_p.V502V	p.V504V	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1770	+			504			Helical; Name=3; (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1512C>T	CCDS4922.2																																																																																				0.423	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		19	203	0	0	0	0.008871	0	19	203				
DEFB110	245913	broad.mit.edu	37	6	49986799	49986799	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:49986799C>A	ENST00000371148.2	-	2	140	c.95G>T	c.(94-96)aGg>aTg	p.R32M	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	32					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R32M(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					GCACTCTCTCCTCAAGTCCAA	0.373																																							uc003pac.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)AGG>ATG		beta-defensin 110 isoform a							171.0	157.0	162.0					6																	49986799		2203	4300	6503	SO:0001583	missense	245913				defense response to bacterium	extracellular region		g.chr6:49986799C>A	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.95G>T	6.37:g.49986799C>A	ENSP00000360190:p.Arg32Met					DEFB110_uc011dwr.1_Intron	p.R32M	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN			2	141	-	Lung NSC(77;0.042)		32					Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	37	c.95G>T	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	C	9.401	1.078053	0.20227	.	.	ENSG00000203970	ENST00000371148	.	.	.	4.77	1.81	0.25067	.	0.376195	0.23194	N	0.050879	T	0.16041	0.0386	.	.	.	0.09310	N	0.999996	P	0.50943	0.94	P	0.46975	0.533	T	0.04767	-1.0928	7	.	.	.	-1.3947	6.7973	0.23732	0.0:0.5195:0.3807:0.0999	.	32	Q30KQ9	DB110_HUMAN	M	32	.	.	R	-	2	0	DEFB110	50094758	0.487000	0.25988	0.989000	0.46669	0.368000	0.29767	0.535000	0.23114	0.552000	0.29026	0.655000	0.94253	AGG		0.373	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		20	124	1	0	2.70639e-06	0.002299	3.36932e-06	20	124				
TFAP2B	7021	broad.mit.edu	37	6	50803856	50803856	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:50803856G>C	ENST00000393655.3	+	4	853	c.684G>C	c.(682-684)gaG>gaC	p.E228D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E237D	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	228					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E228D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACACCGGCGAGGTGTTTTGCT	0.493																																					Pancreas(116;1373 2332 5475 10752)	Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)GAG>GAC		transcription factor AP-2 beta							104.0	105.0	105.0					6																	50803856		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50803856G>C	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.684G>C	6.37:g.50803856G>C	ENSP00000377265:p.Glu228Asp						p.E228D	NM_003221	NP_003212	Q92481	AP2B_HUMAN			4	850	+	Lung NSC(77;0.156)		228					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.684G>C	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510067	0.27036	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97256	-4.31;-4.31	5.44	3.67	0.42095	Transcription factor AP-2, C-terminal (1);	0.102633	0.64402	D	0.000003	D	0.92639	0.7661	N	0.11154	0.105	0.58432	D	0.999997	D	0.63046	0.992	D	0.74348	0.983	D	0.89767	0.3951	10	0.14656	T	0.56	-16.1897	10.2573	0.43405	0.2122:0.0:0.7878:0.0	.	228	Q92481	AP2B_HUMAN	D	228;237	ENSP00000377265:E228D;ENSP00000263046:E237D	ENSP00000263046:E237D	E	+	3	2	TFAP2B	50911815	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.017000	0.57167	0.684000	0.31448	0.650000	0.86243	GAG		0.493	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		9	131	0	0	0	0.006214	0	9	131				
GCLC	2729	broad.mit.edu	37	6	53379289	53379289	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:53379289T>A	ENST00000229416.6	-	5	1050	c.567A>T	c.(565-567)ttA>ttT	p.L189F	GCLC_ENST00000514004.1_Missense_Mutation_p.L189F	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	189					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.L189F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TATTTCTTGTTAAGGTACTAA	0.383																																							uc003pbw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(565-567)TTA>TTT		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						189.0	159.0	169.0					6																	53379289		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53379289T>A	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.567A>T	6.37:g.53379289T>A	ENSP00000229416:p.Leu189Phe					GCLC_uc003pbx.2_Missense_Mutation_p.L189F	p.L189F	NM_001498	NP_001489	P48506	GSH1_HUMAN			5	955	-	Lung NSC(77;0.0137)		189					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.567A>T	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.86|19.86	3.905428|3.905428	0.72868|0.72868	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416;ENST00000514004;ENST00000514933|ENST00000513939	T;T;T|.	0.60299|.	0.2;0.2;0.2|.	5.74|5.74	-4.97|-4.97	0.03029|0.03029	.|.	0.061993|.	0.64402|.	D|.	0.000004|.	T|.	0.60741|.	0.2292|.	M|M	0.86028|0.86028	2.79|2.79	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.67145|.	0.996|.	P|.	0.59761|.	0.863|.	T|.	0.70854|.	-0.4759|.	10|.	0.62326|.	D|.	0.03|.	.|.	9.5606|9.5606	0.39366|0.39366	0.0:0.2396:0.5175:0.2429|0.0:0.2396:0.5175:0.2429	.|.	189|.	P48506|.	GSH1_HUMAN|.	F|L	189;189;136|139	ENSP00000229416:L189F;ENSP00000421908:L189F;ENSP00000423615:L136F|.	ENSP00000229416:L189F|.	L|X	-|-	3|2	2|2	GCLC|GCLC	53487248|53487248	0.989000|0.989000	0.36119|0.36119	0.722000|0.722000	0.30670|0.30670	0.942000|0.942000	0.58702|0.58702	0.183000|0.183000	0.16919|0.16919	-0.866000|-0.866000	0.04068|0.04068	-0.472000|-0.472000	0.04984|0.04984	TTA|TAA		0.383	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			4	50	0	0	0	0.009096	0	4	50				
HCRTR2	3062	broad.mit.edu	37	6	55145222	55145222	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:55145222T>A	ENST00000370862.3	+	6	1421	c.1085T>A	c.(1084-1086)aTt>aAt	p.I362N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	362					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.I362N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCGAATCCAATTATTTATAAT	0.388																																							uc003pcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(1084-1086)ATT>AAT		orexin receptor 2							151.0	148.0	149.0					6																	55145222		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55145222T>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1085T>A	6.37:g.55145222T>A	ENSP00000359899:p.Ile362Asn					HCRTR2_uc010jzv.2_RNA	p.I362N	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	1400	+	Lung NSC(77;0.107)|Renal(3;0.122)		362			Helical; Name=7; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.1085T>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505916	0.85282	.	.	ENSG00000137252	ENST00000370862	T	0.48522	0.81	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85043	0.0924	10	0.87932	D	0	.	15.8126	0.78576	0.0:0.0:0.0:1.0	.	362	O43614	OX2R_HUMAN	N	362	ENSP00000359899:I362N	ENSP00000359899:I362N	I	+	2	0	HCRTR2	55253181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.606000	0.82863	2.148000	0.66965	0.477000	0.44152	ATT		0.388	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			34	68	0	0	0	0.002445	0	34	68				
HMGCLL1	54511	broad.mit.edu	37	6	55364081	55364081	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:55364081G>T	ENST00000398661.2	-	7	780	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.L187M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.L155M	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	217					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.L217M(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGACAGCCCAGAGCACAAGAC	0.303																																					Ovarian(35;840 893 7837 15538 42887)	Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(649-651)CTG>ATG		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							104.0	103.0	103.0					6																	55364081		1844	4094	5938	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55364081G>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.649C>A	6.37:g.55364081G>T	ENSP00000381654:p.Leu217Met					HMGCLL1_uc003pco.2_Missense_Mutation_p.L187M|HMGCLL1_uc010jzx.2_Missense_Mutation_p.L88M|HMGCLL1_uc011dxc.1_Missense_Mutation_p.L155M|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron	p.L217M	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	808	-	Lung NSC(77;0.0875)		217					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.649C>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014805	0.35511	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000308161	D;D;D	0.98807	-5.15;-5.15;-5.15	5.72	3.96	0.45880	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.067107	0.64402	D	0.000017	D	0.98163	0.9393	M	0.82323	2.585	0.80722	D	1	B;B;P	0.39847	0.407;0.202;0.691	B;P;P	0.54140	0.358;0.451;0.743	D	0.97777	1.0230	10	0.51188	T	0.08	-20.5319	7.0137	0.24877	0.37:0.0:0.63:0.0	.	155;187;217	F8W793;Q8TB92-2;Q8TB92	.;.;HMGC2_HUMAN	M	187;217;155	ENSP00000274901:L187M;ENSP00000381654:L217M;ENSP00000309737:L155M	ENSP00000274901:L187M	L	-	1	2	HMGCLL1	55472040	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.087000	0.41653	0.798000	0.33994	0.655000	0.94253	CTG		0.303	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		34	102	1	0	2.87052e-16	0.005524	4.74823e-16	34	102				
KHDRBS2	202559	broad.mit.edu	37	6	62604730	62604730	+	Missense_Mutation	SNP	C	C	A	rs568880717		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:62604730C>A	ENST00000281156.4	-	6	898	c.620G>T	c.(619-621)gGg>gTg	p.G207V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.G207V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATGGCACCCCCACGGCCCCT	0.532																																							uc003peg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(619-621)GGG>GTG		KH domain-containing, RNA-binding, signal							29.0	33.0	31.0					6																	62604730		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604730C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.620G>T	6.37:g.62604730C>A	ENSP00000281156:p.Gly207Val						p.G207V	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	867	-			207					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.620G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047040	0.75846	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.50001	0.76	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	T	0.64659	0.2618	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64875	-0.6304	10	0.56958	D	0.05	-2.9329	19.7889	0.96450	0.0:1.0:0.0:0.0	.	207	Q5VWX1	KHDR2_HUMAN	V	207	ENSP00000281156:G207V	ENSP00000281156:G207V	G	-	2	0	KHDRBS2	62662689	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.138000	0.71717	2.734000	0.93682	0.655000	0.94253	GGG		0.532	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		13	33	1	0	2.23348e-06	0.004007	2.78733e-06	13	33				
EYS	346007	broad.mit.edu	37	6	66115103	66115103	+	Silent	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:66115103T>A	ENST00000370621.3	-	6	1546	c.1020A>T	c.(1018-1020)ccA>ccT	p.P340P	EYS_ENST00000342421.5_Silent_p.P340P|EYS_ENST00000503581.1_Silent_p.P340P|EYS_ENST00000393380.2_Silent_p.P340P|EYS_ENST00000370616.2_Silent_p.P340P|EYS_ENST00000370618.3_Silent_p.P340P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	340	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.P340P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATTCTGACATGGTACTAATG	0.333																																							uc011dxu.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1018-1020)CCA>CCT		eyes shut homolog isoform 1							110.0	109.0	109.0					6																	66115103		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115103T>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1020A>T	6.37:g.66115103T>A						EYS_uc003peq.2_Silent_p.P340P|EYS_uc003per.1_Silent_p.P340P	p.P340P	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			6	1558	-			340			EGF-like 4.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.1020A>T																																																																																					0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		35	93	0	0	0	0.002836	0	35	93				
EYS	346007	broad.mit.edu	37	6	66115229	66115229	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:66115229A>G	ENST00000370621.3	-	6	1420	c.894T>C	c.(892-894)tgT>tgC	p.C298C	EYS_ENST00000342421.5_Silent_p.C298C|EYS_ENST00000503581.1_Silent_p.C298C|EYS_ENST00000393380.2_Silent_p.C298C|EYS_ENST00000370616.2_Silent_p.C298C|EYS_ENST00000370618.3_Silent_p.C298C			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	298					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C298C(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCAGAGAAACACAAGGTTTTG	0.368																																							uc011dxu.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(892-894)TGT>TGC		eyes shut homolog isoform 1							132.0	136.0	135.0					6																	66115229		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115229A>G		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.894T>C	6.37:g.66115229A>G						EYS_uc003peq.2_Silent_p.C298C|EYS_uc003per.1_Silent_p.C298C	p.C298C	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			6	1432	-			298					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.894T>C																																																																																					0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		25	195	0	0	0	0.004656	0	25	195				
COL9A1	1297	broad.mit.edu	37	6	70944628	70944628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:70944628C>A	ENST00000357250.6	-	34	2286	c.2128G>T	c.(2128-2130)Gaa>Taa	p.E710*	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.E467*|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.E467*|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	710	Collagen-like 7.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.E710*(1)|p.E467*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAGCCAGGTTCCCCAGGATTA	0.527																																							uc003pfg.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(2128-2130)GAA>TAA		alpha 1 type IX collagen isoform 1 precursor							41.0	43.0	42.0					6																	70944628		2203	4300	6503	SO:0001587	stop_gained	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70944628C>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2128G>T	6.37:g.70944628C>A	ENSP00000349790:p.Glu710*					COL9A1_uc003pfe.3_Nonsense_Mutation_p.E259*|COL9A1_uc003pff.3_Nonsense_Mutation_p.E467*	p.E710*	NM_001851	NP_001842	P20849	CO9A1_HUMAN			34	2287	-			710			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	c.2128G>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027458	0.93518	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.74	5.74	0.90152	.	0.100154	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.9077	0.97014	0.0:1.0:0.0:0.0	.	.	.	.	X	710;467;467	.	ENSP00000315252:E467X	E	-	1	0	COL9A1	71001349	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.766000	0.68843	2.714000	0.92807	0.585000	0.79938	GAA		0.527	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			17	26	1	0	0.00074312	0.006122	0.000831086	17	26				
KCNQ5	56479	broad.mit.edu	37	6	73904298	73904298	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:73904298A>G	ENST00000370398.1	+	14	2069	c.1960A>G	c.(1960-1962)Aca>Gca	p.T654A	KCNQ5_ENST00000402622.2_Missense_Mutation_p.T664A|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T655A|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T654A|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T544A|KCNQ5_ENST00000342056.2_Missense_Mutation_p.T673A|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T645A	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	654					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.T654A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ATGTGAACAGACATCTGACTA	0.493																																					GBM(142;1375 1859 14391 23261 44706)	GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1960-1962)ACA>GCA		potassium voltage-gated channel, KQT-like							96.0	92.0	93.0					6																	73904298		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904298A>G	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1960A>G	6.37:g.73904298A>G	ENSP00000359425:p.Thr654Ala					KCNQ5_uc011dyh.1_Missense_Mutation_p.T673A|KCNQ5_uc011dyi.1_Missense_Mutation_p.T664A|KCNQ5_uc010kat.2_Missense_Mutation_p.T645A|KCNQ5_uc011dyj.1_Missense_Mutation_p.T544A|KCNQ5_uc011dyk.1_Missense_Mutation_p.T404A	p.T654A	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2307	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	654					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1960A>G	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.715359	0.30413	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99388	-5.61;-5.61;-5.6;-5.6;-5.62;-5.65;-5.81	5.47	5.47	0.80525	.	0.053328	0.64402	D	0.000001	D	0.98321	0.9443	L	0.55481	1.735	0.33833	D	0.630559	D;B;B;B;B	0.56746	0.977;0.104;0.119;0.072;0.063	P;B;B;B;B	0.54856	0.762;0.042;0.034;0.076;0.028	D	0.98853	1.0759	10	0.21540	T	0.41	.	15.549	0.76133	1.0:0.0:0.0:0.0	.	544;664;673;645;654	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	A	673;673;654;654;664;655;645;544	ENSP00000345055:T673A;ENSP00000347326:T654A;ENSP00000359425:T654A;ENSP00000385501:T664A;ENSP00000347853:T655A;ENSP00000384453:T645A;ENSP00000409861:T544A	ENSP00000345055:T673A	T	+	1	0	KCNQ5	73961019	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.339000	0.96797	2.072000	0.62099	0.459000	0.35465	ACA		0.493	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		8	113	0	0	0	0.004482	0	8	113				
COL12A1	1303	broad.mit.edu	37	6	75827165	75827165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:75827165G>T	ENST00000322507.8	-	47	7761	c.7452C>A	c.(7450-7452)gaC>gaA	p.D2484E	COL12A1_ENST00000483888.2_Missense_Mutation_p.D2484E|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1320E|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2484E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2484	Nonhelical region (NC3).|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D2484E(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATTCAAAGTCGTCCACAATGA	0.423																																							uc003phs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(7450-7452)GAC>GAA		collagen, type XII, alpha 1 long isoform							120.0	118.0	119.0					6																	75827165		1968	4174	6142	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75827165G>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7452C>A	6.37:g.75827165G>T	ENSP00000325146:p.Asp2484Glu					COL12A1_uc003pht.2_Missense_Mutation_p.D1320E	p.D2484E	NM_004370	NP_004361	Q99715	COCA1_HUMAN			47	7618	-			2484			Nonhelical region (NC3).|VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7452C>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173743	0.78452	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.91	-1.22	0.09494	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.28776	0.89	0.36908	D	0.890749	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.99	T	0.66724	-0.5851	10	0.31617	T	0.26	.	10.6057	0.45392	0.6877:0.0:0.3123:0.0	.	1320;2484	Q99715-2;Q99715	.;COCA1_HUMAN	E	2484;122;2484;1320;2484;2484;38	ENSP00000325146:D2484E;ENSP00000399812:D122E;ENSP00000305147:D1320E;ENSP00000412864:D2484E;ENSP00000421216:D2484E;ENSP00000423423:D38E	ENSP00000325146:D2484E	D	-	3	2	COL12A1	75883885	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	2.249000	0.43169	-0.357000	0.08175	-0.290000	0.09829	GAC		0.423	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		7	86	1	0	0.00198382	0.001984	0.00218689	7	86				
COL12A1	1303	broad.mit.edu	37	6	75875431	75875431	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:75875431C>A	ENST00000322507.8	-	14	3084	c.2775G>T	c.(2773-2775)tgG>tgT	p.W925C	COL12A1_ENST00000483888.2_Missense_Mutation_p.W925C|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.W925C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	925	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.W925C(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGCAGATGTCCAATAAGCCC	0.388																																							uc003phs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(2773-2775)TGG>TGT		collagen, type XII, alpha 1 long isoform							109.0	102.0	104.0					6																	75875431		1879	4114	5993	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75875431C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2775G>T	6.37:g.75875431C>A	ENSP00000325146:p.Trp925Cys					COL12A1_uc003pht.2_Intron	p.W925C	NM_004370	NP_004361	Q99715	COCA1_HUMAN			14	2941	-			925			Fibronectin type-III 6.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2775G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896858	0.72639	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.86297	-2.1;-2.1;-2.1	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000022	D	0.94905	0.8353	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95790	0.8824	10	0.87932	D	0	.	18.9513	0.92642	0.0:1.0:0.0:0.0	.	925	Q99715	COCA1_HUMAN	C	925	ENSP00000325146:W925C;ENSP00000412864:W925C;ENSP00000421216:W925C	ENSP00000325146:W925C	W	-	3	0	COL12A1	75932151	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.263000	0.78421	2.469000	0.83416	0.563000	0.77884	TGG		0.388	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		12	93	1	0	7.03913e-09	0.001368	9.75721e-09	12	93				
IMPG1	3617	broad.mit.edu	37	6	76715026	76715026	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:76715026C>A	ENST00000369950.3	-	10	1302	c.1113G>T	c.(1111-1113)gtG>gtT	p.V371V	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.V371V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAATTGTCCCCACATCCAAAG	0.418																																					Pancreas(37;839 1141 2599 26037)	Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1111-1113)GTG>GTT		interphotoreceptor matrix proteoglycan 1							198.0	167.0	177.0					6																	76715026		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715026C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1113G>T	6.37:g.76715026C>A							p.V371V	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			10	1243	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	371						Silent	SNP	ENST00000369950.3	37	c.1113G>T	CCDS4985.1																																																																																				0.418	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		5	95	1	0	0.000602214	0.000602	0.000674971	5	95				
BCKDHB	594	broad.mit.edu	37	6	80878646	80878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:80878646G>T	ENST00000320393.6	+	5	579	c.532G>T	c.(532-534)Gga>Tga	p.G178*	BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.G178*|BCKDHB_ENST00000545529.1_Nonsense_Mutation_p.G178*|BCKDHB_ENST00000369760.4_Nonsense_Mutation_p.G178*	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	178					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)	p.G178*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TTTTAACTGTGGAAGCCTCAC	0.498																																							uc003pjd.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(532-534)GGA>TGA		branched chain keto acid dehydrogenase E1 beta							159.0	156.0	157.0					6																	80878646		2203	4300	6503	SO:0001587	stop_gained	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80878646G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.532G>T	6.37:g.80878646G>T	ENSP00000318351:p.Gly178*					BCKDHB_uc003pje.2_Nonsense_Mutation_p.G178*	p.G178*	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	599	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	178					Q5T2J3|Q9BQL0	Nonsense_Mutation	SNP	ENST00000320393.6	37	c.532G>T	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951052	0.92660	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	.	.	.	5.1	5.1	0.69264	.	0.097222	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.9829	17.5522	0.87879	0.0:0.0:1.0:0.0	.	.	.	.	X	178;178;178;178;108	.	ENSP00000318351:G178X	G	+	1	0	BCKDHB	80935365	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.361000	0.97122	2.372000	0.80975	0.579000	0.79373	GGA		0.498	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		52	97	1	0	3.10996e-30	0.00361	5.77029e-30	52	97				
PRSS35	167681	broad.mit.edu	37	6	84233730	84233730	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:84233730G>C	ENST00000369700.3	+	2	747	c.570G>C	c.(568-570)aaG>aaC	p.K190N	PRSS35_ENST00000536636.1_Missense_Mutation_p.K190N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	190	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.K190N(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGTTGTTGAAGATGAGGAATA	0.473																																							uc003pjz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)AAG>AAC		protease, serine, 35 precursor							90.0	96.0	94.0					6																	84233730		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233730G>C	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.570G>C	6.37:g.84233730G>C	ENSP00000358714:p.Lys190Asn					PRSS35_uc010kbm.2_Missense_Mutation_p.K190N	p.K190N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	733	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	190			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.570G>C	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425252	0.43020	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.40476	1.03;1.03	5.65	4.77	0.60923	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.203706	0.49916	D	0.000122	T	0.32315	0.0825	N	0.10664	0.02	0.46260	D	0.998953	D	0.63880	0.993	D	0.65874	0.939	T	0.42464	-0.9450	10	0.66056	D	0.02	-16.5627	13.9949	0.64390	0.0725:0.0:0.9275:0.0	.	190	Q8N3Z0	PRS35_HUMAN	N	190	ENSP00000440870:K190N;ENSP00000358714:K190N	ENSP00000358714:K190N	K	+	3	2	PRSS35	84290449	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	1.210000	0.32370	2.665000	0.90641	0.462000	0.41574	AAG		0.473	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		39	66	0	0	0	0.006999	0	39	66				
TBX18	9096	broad.mit.edu	37	6	85446572	85446572	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:85446572C>A	ENST00000369663.5	-	8	1992	c.1655G>T	c.(1654-1656)gGa>gTa	p.G552V	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	552					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G552V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAAGAAACTTCCTTGGGAAGA	0.512																																							uc003pkl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1654-1656)GGA>GTA		T-box 18							66.0	74.0	71.0					6																	85446572		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446572C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1655G>T	6.37:g.85446572C>A	ENSP00000358677:p.Gly552Val					TBX18_uc010kbq.1_Intron	p.G552V	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1655	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	552					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1655G>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141544	0.37825	.	.	ENSG00000112837	ENST00000369663	D	0.88664	-2.41	5.26	5.26	0.73747	.	0.140126	0.48767	D	0.000167	T	0.71459	0.3342	N	0.24115	0.695	0.80722	D	1	P	0.43750	0.816	B	0.34093	0.175	T	0.75202	-0.3401	10	0.16420	T	0.52	.	18.8443	0.92198	0.0:1.0:0.0:0.0	.	552	O95935	TBX18_HUMAN	V	552	ENSP00000358677:G552V	ENSP00000358677:G552V	G	-	2	0	TBX18	85503291	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	5.378000	0.66190	2.453000	0.82957	0.585000	0.79938	GGA		0.512	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		16	121	1	0	1.99824e-07	0.00499	2.59686e-07	16	121				
HTR1E	3354	broad.mit.edu	37	6	87725964	87725964	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:87725964G>T	ENST00000305344.5	+	2	1615	c.912G>T	c.(910-912)tgG>tgT	p.W304C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	304	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.W304C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTTTATCCTGGCTGCCATTTT	0.512																																							uc003pli.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(910-912)TGG>TGT		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						155.0	155.0	155.0					6																	87725964		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725964G>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.912G>T	6.37:g.87725964G>T	ENSP00000307766:p.Trp304Cys						p.W304C	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1615	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	304			Helical; Name=6; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.912G>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519095	0.44866	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.81415	-1.49;-1.49	4.51	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000014	D	0.93848	0.8032	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96810	0.9596	10	0.87932	D	0	.	17.1988	0.86901	0.0:0.0:1.0:0.0	.	304	P28566	5HT1E_HUMAN	C	304	ENSP00000307766:W304C;ENSP00000358597:W304C	ENSP00000307766:W304C	W	+	3	0	HTR1E	87782683	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.219000	0.95173	2.062000	0.61559	0.407000	0.27541	TGG		0.512	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		19	204	1	0	8.34094e-07	0.008871	1.05808e-06	19	204				
SPACA1	81833	broad.mit.edu	37	6	88773879	88773879	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:88773879A>G	ENST00000237201.1	+	6	790	c.673A>G	c.(673-675)Ata>Gta	p.I225V	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	225					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.I225V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTGCTGACCATAGGAGTCAT	0.368																																							uc003pmn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(673-675)ATA>GTA		sperm acrosome associated 1 precursor							155.0	149.0	151.0					6																	88773879		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88773879A>G	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.673A>G	6.37:g.88773879A>G	ENSP00000237201:p.Ile225Val						p.I225V	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	6	790	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	225			Helical; (Potential).			Missense_Mutation	SNP	ENST00000237201.1	37	c.673A>G	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	A	1.467	-0.560788	0.03939	.	.	ENSG00000118434	ENST00000237201	T	0.27720	1.65	5.68	0.528	0.17089	.	0.449199	0.22488	N	0.059407	T	0.11922	0.0290	M	0.63428	1.95	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31861	-0.9928	10	0.34782	T	0.22	-2.2654	10.4055	0.44254	0.7551:0.0:0.2449:0.0	.	225	Q9HBV2	SACA1_HUMAN	V	225	ENSP00000237201:I225V	ENSP00000237201:I225V	I	+	1	0	SPACA1	88830598	0.958000	0.32768	0.416000	0.26546	0.111000	0.19643	0.738000	0.26158	-0.398000	0.07679	-1.964000	0.00472	ATA		0.368	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			6	99	0	0	0	0.001168	0	6	99				
EPHA7	2045	broad.mit.edu	37	6	93956568	93956568	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:93956568G>C	ENST00000369303.4	-	15	2852	c.2668C>G	c.(2668-2670)Cta>Gta	p.L890V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	890	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.L890V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTTTGTCTAGAATTCCAACT	0.438																																							uc003poe.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2668-2670)CTA>GTA		ephrin receptor EphA7 precursor							136.0	129.0	132.0					6																	93956568		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956568G>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2668C>G	6.37:g.93956568G>C	ENSP00000358309:p.Leu890Val					EPHA7_uc003pof.2_Missense_Mutation_p.L885V|EPHA7_uc011eac.1_Missense_Mutation_p.L886V	p.L890V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2909	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	890			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2668C>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051210	0.75960	.	.	ENSG00000135333	ENST00000369303	T	0.67865	-0.29	5.74	5.74	0.90152	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.81293	0.4792	M	0.89353	3.025	0.80722	D	1	P;D;D	0.76494	0.919;0.999;0.999	P;D;D	0.85130	0.888;0.995;0.997	D	0.84319	0.0515	10	0.87932	D	0	.	13.1646	0.59562	0.0727:0.0:0.9273:0.0	.	886;885;890	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	890	ENSP00000358309:L890V	ENSP00000358309:L890V	L	-	1	2	EPHA7	94013289	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.123000	0.50453	2.723000	0.93209	0.591000	0.81541	CTA		0.438	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			21	103	0	0	0	0.001882	0	21	103				
EPHA7	2045	broad.mit.edu	37	6	93967841	93967841	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:93967841G>T	ENST00000369303.4	-	11	2270	c.2086C>A	c.(2086-2088)Cat>Aat	p.H696N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	696	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.H696N(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTCCAAATGGACAACATTC	0.353																																							uc003poe.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2086-2088)CAT>AAT		ephrin receptor EphA7 precursor							110.0	109.0	109.0					6																	93967841		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967841G>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2086C>A	6.37:g.93967841G>T	ENSP00000358309:p.His696Asn					EPHA7_uc003pof.2_Missense_Mutation_p.H691N|EPHA7_uc011eac.1_Missense_Mutation_p.H692N	p.H696N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	11	2327	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	696			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2086C>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076055	0.94000	.	.	ENSG00000135333	ENST00000369303	T	0.61158	0.13	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	N	0.04203	-0.255	0.80722	D	1	P;P;P	0.48162	0.831;0.885;0.906	B;P;P	0.50825	0.388;0.519;0.651	T	0.56792	-0.7920	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	692;691;696	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	N	696	ENSP00000358309:H696N	ENSP00000358309:H696N	H	-	1	0	EPHA7	94024562	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CAT		0.353	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			16	84	1	0	3.41278e-10	0.00499	4.95352e-10	16	84				
GPR63	81491	broad.mit.edu	37	6	97247514	97247514	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:97247514G>T	ENST00000229955.3	-	2	439	c.94C>A	c.(94-96)Cct>Act	p.P32T	GPR63_ENST00000417980.1_Missense_Mutation_p.P32T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.P32T(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AATGGTGGAGGGAGTGTAATA	0.458																																							uc010kcl.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(94-96)CCT>ACT		G protein-coupled receptor 63							127.0	115.0	119.0					6																	97247514		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247514G>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.94C>A	6.37:g.97247514G>T	ENSP00000229955:p.Pro32Thr					GPR63_uc003pou.2_Missense_Mutation_p.P32T	p.P32T	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	572	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	32			Extracellular (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.94C>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292823	0.23564	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.59638	0.25;0.25;0.25	5.15	5.15	0.70609	.	0.164450	0.28841	N	0.013965	T	0.30916	0.0780	N	0.24115	0.695	0.42822	D	0.993991	B	0.30482	0.281	B	0.22753	0.041	T	0.37009	-0.9724	10	0.72032	D	0.01	-5.1132	16.0686	0.80907	0.0:0.134:0.866:0.0	.	32	Q9BZJ6	GPR63_HUMAN	T	56;32;32;32	ENSP00000393170:P32T;ENSP00000229955:P32T;ENSP00000358273:P32T	ENSP00000229955:P32T	P	-	1	0	GPR63	97354235	0.998000	0.40836	0.116000	0.21606	0.642000	0.38348	2.747000	0.47475	2.569000	0.86673	0.650000	0.86243	CCT		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			10	90	1	0	9.70103e-10	0.008291	1.38844e-09	10	90				
KLHL32	114792	broad.mit.edu	37	6	97562151	97562151	+	Missense_Mutation	SNP	C	C	G	rs556737146		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:97562151C>G	ENST00000369261.4	+	7	1483	c.1120C>G	c.(1120-1122)Cgc>Ggc	p.R374G	KLHL32_ENST00000539200.1_Missense_Mutation_p.R305G|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.R338G	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374G(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CTATGACCCCCGCAGTAATTC	0.567																																							uc010kcm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1120-1122)CGC>GGC		kelch-like 32							62.0	58.0	59.0					6																	97562151		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97562151C>G	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1120C>G	6.37:g.97562151C>G	ENSP00000358265:p.Arg374Gly					KLHL32_uc003poy.2_Missense_Mutation_p.R374G|KLHL32_uc011ead.1_Missense_Mutation_p.R338G|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.R305G|KLHL32_uc003ppa.2_Intron	p.R374G	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1592	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	374			Kelch 2.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1120C>G	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121824	0.77436	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.67698	-0.28;-0.28;-0.28	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.994;0.999	T	0.77043	-0.2734	10	0.46703	T	0.11	.	19.2822	0.94055	0.0:1.0:0.0:0.0	.	305;338;374;374	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	G	374;338;305	ENSP00000358265:R374G;ENSP00000440382:R338G;ENSP00000441527:R305G	ENSP00000358265:R374G	R	+	1	0	KLHL32	97668872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.506000	0.53364	2.763000	0.94921	0.655000	0.94253	CGC		0.567	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		15	28	0	0	0	0.00245	0	15	28				
MCHR2	84539	broad.mit.edu	37	6	100395638	100395638	+	Splice_Site	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:100395638C>T	ENST00000281806.2	-	3	706	c.392G>A	c.(391-393)aGg>aAg	p.R131K	MCHR2_ENST00000369212.2_Splice_Site_p.R131K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R131K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTCACTTACCTGTCCACACT	0.443																																							uc003pqh.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(391-393)AGG>AAG		melanin-concentrating hormone receptor 2							128.0	139.0	135.0					6																	100395638		2203	4300	6503	SO:0001630	splice_region_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395638C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.392+1G>A	6.37:g.100395638C>T						MCHR2_uc003pqi.1_Missense_Mutation_p.R131K	p.R131K	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	3	707	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	131			Cytoplasmic (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.392G>A	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764521	0.89932	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	D;D;D	0.97114	-4.25;-4.25;-4.25	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.98887	0.9623	H	0.96142	3.775	0.49299	D	0.999777	D	0.89917	1.0	D	0.97110	1.0	D	0.99632	1.0986	9	.	.	.	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	131	Q969V1	MCHR2_HUMAN	K	131	ENSP00000403490:R131K;ENSP00000281806:R131K;ENSP00000358214:R131K	.	R	-	2	0	MCHR2	100502359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.594000	0.74104	2.089000	0.63090	0.650000	0.86243	AGG		0.443	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	Missense_Mutation	34	186	0	0	0	0.003271	0	34	186				
MCHR2	84539	broad.mit.edu	37	6	100403903	100403903	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:100403903T>C	ENST00000281806.2	-	2	435	c.121A>G	c.(121-123)Att>Gtt	p.I41V	MCHR2_ENST00000369212.2_Missense_Mutation_p.I41V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I41V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATAATCCCAATCATGGAAGGG	0.393																																							uc003pqh.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(121-123)ATT>GTT		melanin-concentrating hormone receptor 2							122.0	114.0	117.0					6																	100403903		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100403903T>C	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.121A>G	6.37:g.100403903T>C	ENSP00000281806:p.Ile41Val					MCHR2_uc003pqi.1_Missense_Mutation_p.I41V	p.I41V	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	436	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	41			Helical; Name=1; (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.121A>G	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668287	0.29604	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.37058	1.22;1.22;1.22	4.86	-1.29	0.09288	.	0.290101	0.25349	N	0.031318	T	0.06735	0.0172	N	0.17082	0.46	0.23168	N	0.998185	B	0.02656	0.0	B	0.04013	0.001	T	0.27872	-1.0061	10	0.87932	D	0	.	5.1545	0.15027	0.0:0.1739:0.2798:0.5463	.	41	Q969V1	MCHR2_HUMAN	V	41	ENSP00000403490:I41V;ENSP00000281806:I41V;ENSP00000358214:I41V	ENSP00000281806:I41V	I	-	1	0	MCHR2	100510624	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	0.780000	0.26760	-0.385000	0.07833	-0.441000	0.05720	ATT		0.393	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		22	57	0	0	0	0.002299	0	22	57				
SOBP	55084	broad.mit.edu	37	6	107824904	107824904	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:107824904G>T	ENST00000317357.5	+	2	799	c.140G>T	c.(139-141)gGc>gTc	p.G47V		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.G47V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTGGTATGGCTATGATAAG	0.388																																							uc003prx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(139-141)GGC>GTC		sine oculis binding protein homolog							123.0	119.0	120.0					6																	107824904		1852	4101	5953	SO:0001583	missense	55084						metal ion binding	g.chr6:107824904G>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.140G>T	6.37:g.107824904G>T	ENSP00000318900:p.Gly47Val					SOBP_uc003prw.1_Missense_Mutation_p.G47V	p.G47V	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	2	644	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	47						Missense_Mutation	SNP	ENST00000317357.5	37	c.140G>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702591	0.88924	.	.	ENSG00000112320	ENST00000317357	T	0.11385	2.78	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.19046	0.0457	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01786	-1.1274	10	0.87932	D	0	-11.0445	19.4461	0.94847	0.0:0.0:1.0:0.0	.	47	A7XYQ1	SOBP_HUMAN	V	47	ENSP00000318900:G47V	ENSP00000318900:G47V	G	+	2	0	SOBP	107931597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.596000	0.87737	0.655000	0.94253	GGC		0.388	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		9	76	1	0	0.000274275	0.004482	0.000311722	9	76				
ARMC2	84071	broad.mit.edu	37	6	109190162	109190162	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:109190162G>T	ENST00000392644.4	+	4	595	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	143								p.A136S(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTCCCAGCGGGCCCTTCTGCC	0.542																																							uc003pss.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GCC>TCC		armadillo repeat containing 2							63.0	61.0	62.0					6																	109190162		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109190162G>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.427G>T	6.37:g.109190162G>T	ENSP00000376417:p.Ala143Ser					ARMC2_uc011eao.1_5'UTR	p.A143S	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	4	601	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	143					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.427G>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	5.412	0.261113	0.10239	.	.	ENSG00000118690	ENST00000392644;ENST00000237512	T;T	0.42900	0.96;0.96	5.41	-2.51	0.06365	.	1.458410	0.03843	N	0.270965	T	0.07458	0.0188	N	0.16478	0.41	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.12243	-1.0555	10	0.09084	T	0.74	.	7.0226	0.24922	0.6342:0.1581:0.2076:0.0	.	143	Q8NEN0	ARMC2_HUMAN	S	143	ENSP00000376417:A143S;ENSP00000237512:A143S	ENSP00000237512:A143S	A	+	1	0	ARMC2	109296855	0.000000	0.05858	0.077000	0.20336	0.931000	0.56810	-0.315000	0.08081	-0.327000	0.08551	-0.150000	0.13652	GCC		0.542	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		23	60	1	0	2.44723e-14	0.004656	3.90543e-14	23	60				
GPR6	2830	broad.mit.edu	37	6	110300858	110300858	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:110300858C>A	ENST00000275169.3	+	1	561	c.543C>A	c.(541-543)acC>acA	p.T181T	GPR6_ENST00000414000.2_Silent_p.T196T	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	181					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T181T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCGCCGGACCCTGTTGGGCG	0.672																																							uc011eaw.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(541-543)ACC>ACA		G protein-coupled receptor 6							40.0	41.0	41.0					6																	110300858		2203	4300	6503	SO:0001819	synonymous_variant	2830					integral to plasma membrane		g.chr6:110300858C>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.543C>A	6.37:g.110300858C>A						GPR6_uc011eav.1_Silent_p.T196T|GPR6_uc003ptu.2_Silent_p.T181T	p.T181T	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	723	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	181			Cytoplasmic (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	c.543C>A	CCDS5079.1																																																																																				0.672	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			7	50	1	0	1.06961e-07	0.00308	1.40907e-07	7	50				
LAMA4	3910	broad.mit.edu	37	6	112496655	112496655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:112496655C>A	ENST00000230538.7	-	11	1614	c.1217G>T	c.(1216-1218)gGg>gTg	p.G406V	LAMA4_ENST00000522006.1_Missense_Mutation_p.G399V|LAMA4_ENST00000389463.4_Missense_Mutation_p.G399V|LAMA4_ENST00000424408.2_Missense_Mutation_p.G399V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	406	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.G399V(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATGCTCTTCCCCATAATAGAG	0.468																																							uc003pvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1216-1218)GGG>GTG		laminin, alpha 4 isoform 1 precursor							133.0	135.0	134.0					6																	112496655		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496655C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1217G>T	6.37:g.112496655C>A	ENSP00000230538:p.Gly406Val					LAMA4_uc003pvv.2_Missense_Mutation_p.G399V|LAMA4_uc003pvt.2_Missense_Mutation_p.G399V	p.G406V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	11	1526	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	406			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1217G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291925	0.59976	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.71	3.94	0.45596	Laminin I (1);	0.222618	0.47093	D	0.000255	T	0.11024	0.0269	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.961;0.997	P;P	0.55161	0.701;0.77	T	0.02844	-1.1103	10	0.66056	D	0.02	.	7.0873	0.25264	0.0:0.7039:0.1416:0.1546	.	406;399	Q16363;Q16363-2	LAMA4_HUMAN;.	V	406;399;399;399	ENSP00000230538:G406V;ENSP00000429488:G399V;ENSP00000374114:G399V;ENSP00000416470:G399V	ENSP00000230538:G406V	G	-	2	0	LAMA4	112603348	0.914000	0.31030	0.762000	0.31397	0.834000	0.47266	1.580000	0.36547	0.780000	0.33566	0.655000	0.94253	GGG		0.468	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		48	117	1	0	2.43139e-17	0.00361	4.08326e-17	48	117				
ROS1	6098	broad.mit.edu	37	6	117706999	117706999	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:117706999G>C	ENST00000368508.3	-	15	2349	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	ROS1_ENST00000368507.3_Silent_p.L712L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	717					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L717L(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACTGTAGTAGAGGCTGTTGT	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2149-2151)CTC>CTG		proto-oncogene c-ros-1 protein precursor							123.0	111.0	115.0					6																	117706999		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117706999G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2151C>G	6.37:g.117706999G>C						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.L717L	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	15	2350	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	717			Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.2151C>G	CCDS5116.1																																																																																				0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			11	73	0	0	0	0.008291	0	11	73				
DCBLD1	285761	broad.mit.edu	37	6	117841007	117841007	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:117841007C>T	ENST00000338728.5	+	3	474	c.354C>T	c.(352-354)ccC>ccT	p.P118P	DCBLD1_ENST00000296955.8_Silent_p.P118P|DCBLD1_ENST00000368503.4_Silent_p.P118P|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	118	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P118P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TGACTGTTCCCAAAGAACTCT	0.438																																							uc003pxs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(352-354)CCC>CCT		discoidin, CUB and LCCL domain containing 1							138.0	126.0	130.0					6																	117841007		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117841007C>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.354C>T	6.37:g.117841007C>T						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.P118P	p.P118P	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	3	479	+		all_cancers(87;0.171)	118			CUB.|Extracellular (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.354C>T																																																																																					0.438	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		8	73	0	0	0	0.004482	0	8	73				
NKAIN2	154215	broad.mit.edu	37	6	125139561	125139561	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:125139561T>C	ENST00000368417.1	+	6	624	c.564T>C	c.(562-564)taT>taC	p.Y188Y	NKAIN2_ENST00000545433.1_Silent_p.Y173Y|NKAIN2_ENST00000546092.1_Silent_p.Y121Y	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y188Y(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTGACTCTTATGGCTATCAAG	0.373																																							uc003pzo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)TAT>TAC		T-cell lymphoma breakpoint-associated target 1							138.0	130.0	133.0					6																	125139561		2203	4300	6503	SO:0001819	synonymous_variant	154215					integral to membrane|plasma membrane		g.chr6:125139561T>C	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.564T>C	6.37:g.125139561T>C						NKAIN2_uc003pzp.2_Silent_p.Y187Y|NKAIN2_uc010keq.2_Silent_p.Y121Y|NKAIN2_uc010ker.2_Silent_p.Y98Y	p.Y188Y	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	6	841	+			188					Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.564T>C	CCDS34526.1																																																																																				0.373	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		5	70	0	0	0	0.001168	0	5	70				
THEMIS	387357	broad.mit.edu	37	6	128040881	128040881	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:128040881C>A	ENST00000368248.2	-	5	1994	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	THEMIS_ENST00000543064.1_Missense_Mutation_p.V655L|THEMIS_ENST00000368250.1_Missense_Mutation_p.V537L|THEMIS_ENST00000537166.1_Missense_Mutation_p.V581L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	616					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V616L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTCATCCACCAAATCATTC	0.443																																							uc003qbi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1846-1848)GTG>TTG		thymocyte selection pathway associated isoform							209.0	182.0	191.0					6																	128040881		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128040881C>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1846G>T	6.37:g.128040881C>A	ENSP00000357231:p.Val616Leu					THEMIS_uc010kfa.2_Missense_Mutation_p.V519L|THEMIS_uc011ebt.1_Missense_Mutation_p.V655L|THEMIS_uc010kfb.2_Missense_Mutation_p.V581L	p.V616L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			6	2165	-			616					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1846G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	2.335	-0.352533	0.05173	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.18657	2.27;2.2;2.28;2.27	5.69	2.49	0.30216	.	1.045680	0.07525	N	0.911169	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43196	-0.9406	10	0.36615	T	0.2	-1.3064	8.6236	0.33875	0.0:0.7202:0.0:0.2798	.	655;616	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	537;655;616;581	ENSP00000357233:V537L;ENSP00000439594:V655L;ENSP00000357231:V616L;ENSP00000439863:V581L	ENSP00000357231:V616L	V	-	1	0	THEMIS	128082574	0.013000	0.17824	0.132000	0.22025	0.040000	0.13550	0.170000	0.16663	0.737000	0.32582	-0.143000	0.13931	GTG		0.443	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		9	80	1	0	3.09899e-07	0.004482	3.99367e-07	9	80				
TMEM200A	114801	broad.mit.edu	37	6	130761821	130761821	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:130761821C>A	ENST00000296978.3	+	3	1125	c.254C>A	c.(253-255)cCc>cAc	p.P85H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.P85H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P85H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	85						integral component of membrane (GO:0016021)		p.P85H(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GGATATTGGCCCCAAAAAGAA	0.423																																							uc003qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(253-255)CCC>CAC		transmembrane protein 200A							101.0	100.0	100.0					6																	130761821		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761821C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.254C>A	6.37:g.130761821C>A	ENSP00000296978:p.Pro85His					TMEM200A_uc010kfh.2_Missense_Mutation_p.P85H|TMEM200A_uc010kfi.2_Missense_Mutation_p.P85H|TMEM200A_uc003qcb.2_Missense_Mutation_p.P85H	p.P85H	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1125	+			85			Extracellular (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.254C>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194768	0.78902	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78499	-0.2180	9	0.87932	D	0	.	19.305	0.94157	0.0:1.0:0.0:0.0	.	85	Q86VY9	T200A_HUMAN	H	85	.	ENSP00000296978:P85H	P	+	2	0	TMEM200A	130803514	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.664000	0.83830	2.547000	0.85894	0.655000	0.94253	CCC		0.423	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		5	95	1	0	3.59834e-05	0.001168	4.24306e-05	5	95				
TXLNB	167838	broad.mit.edu	37	6	139564124	139564124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:139564124C>A	ENST00000358430.3	-	10	1826	c.1594G>T	c.(1594-1596)Gag>Tag	p.E532*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	532						cytoplasm (GO:0005737)		p.E532*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCAGCACTCTCCTGAGAACTG	0.557																																							uc011eds.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1594-1596)GAG>TAG		taxilin beta							89.0	97.0	94.0					6																	139564124		2203	4300	6503	SO:0001587	stop_gained	167838					cytoplasm		g.chr6:139564124C>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1594G>T	6.37:g.139564124C>A	ENSP00000351206:p.Glu532*						p.E532*	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1759	-			532					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Nonsense_Mutation	SNP	ENST00000358430.3	37	c.1594G>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606195	0.96626	.	.	ENSG00000164440	ENST00000358430	.	.	.	5.54	0.52	0.17040	.	1.311170	0.04832	N	0.438984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.2425	4.5394	0.12049	0.0:0.4027:0.2941:0.3032	.	.	.	.	X	532	.	.	E	-	1	0	TXLNB	139605817	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.758000	0.26447	0.012000	0.14892	0.563000	0.77884	GAG		0.557	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		14	143	1	0	0.000219431	0.00245	0.000251245	14	143				
UTRN	7402	broad.mit.edu	37	6	145069549	145069549	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:145069549C>T	ENST00000367545.3	+	54	8107	c.8107C>T	c.(8107-8109)Ctg>Ttg	p.L2703L	UTRN_ENST00000367526.4_Silent_p.L258L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2703					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L2703L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATGGATGACCTGGACGCTGA	0.483																																							uc003qkt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(8107-8109)CTG>TTG		utrophin							81.0	77.0	78.0					6																	145069549		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145069549C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8107C>T	6.37:g.145069549C>T							p.L2703L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	54	8199	+		Ovarian(120;0.218)	2703			Spectrin 20.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8107C>T	CCDS34547.1																																																																																				0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	37	0	0	0	0.009096	0	4	37				
RAET1E	135250	broad.mit.edu	37	6	150210584	150210584	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:150210584G>C	ENST00000357183.4	-	3	654	c.522C>G	c.(520-522)gaC>gaG	p.D174E	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.D138E|RAET1E_ENST00000532335.1_Missense_Mutation_p.D174E|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.D174E	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	174	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.D174E(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCAGCCCTCTGTCTTTCTTCC	0.483																																							uc003qnl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GAC>GAG		retinoic acid early transcript 1E precursor							171.0	160.0	164.0					6																	150210584		2203	4300	6503	SO:0001583	missense	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210584G>C	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.522C>G	6.37:g.150210584G>C	ENSP00000349709:p.Asp174Glu					uc003qni.1_Intron|RAET1E_uc003qnj.2_Missense_Mutation_p.D174E|RAET1E_uc003qnk.1_Missense_Mutation_p.D138E|RAET1E_uc010kih.1_RNA	p.D174E	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	582	-		Ovarian(120;0.0907)	174			Extracellular (Potential).|MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	c.522C>G	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505709	0.44558	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.20200	2.09;2.09;3.19;2.09	3.56	1.41	0.22369	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.043170	0.07550	N	0.915285	T	0.20659	0.0497	M	0.71871	2.18	0.09310	N	1	D;D;D	0.56746	0.968;0.977;0.961	P;P;P	0.57283	0.817;0.721;0.652	T	0.09818	-1.0657	10	0.87932	D	0	-9.8738	5.0108	0.14312	0.3438:0.0:0.6562:0.0	.	174;138;174	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	E	174;174;138;174	ENSP00000437067:D174E;ENSP00000349709:D174E;ENSP00000356332:D138E;ENSP00000432366:D174E	ENSP00000349709:D174E	D	-	3	2	RAET1E	150252277	0.022000	0.18835	0.000000	0.03702	0.002000	0.02628	1.363000	0.34159	0.322000	0.23283	0.585000	0.79938	GAC		0.483	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		9	117	0	0	0	0.006214	0	9	117				
ARID1B	57492	broad.mit.edu	37	6	157505488	157505488	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:157505488G>A	ENST00000350026.5	+	12	3431	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	ARID1B_ENST00000367148.1_Missense_Mutation_p.E1197K|ARID1B_ENST00000346085.5_Missense_Mutation_p.E1157K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1139K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1144	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E1157K(1)|p.E1139K(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGCAAGATCGAACGTGGGGA	0.577																																							uc003qqn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(3415-3417)GAA>AAA		AT rich interactive domain 1B (SWI1-like)							68.0	67.0	67.0					6																	157505488		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157505488G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3430G>A	6.37:g.157505488G>A	ENSP00000055163:p.Glu1144Lys					ARID1B_uc003qqo.2_Missense_Mutation_p.E1099K|ARID1B_uc003qqp.2_Missense_Mutation_p.E1086K|ARID1B_uc010kjl.2_Missense_Mutation_p.E284K	p.E1139K	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	13	3567	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1144			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3415G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353264	0.82132	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.91	5.91	0.95273	ARID/BRIGHT DNA-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.75020	0.985;0.966;0.985;0.985	T	0.59558	-0.7432	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	394;1144;1157;1139	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	K	1157;1144;1197;1139;614;666;619;211	ENSP00000344546:E1157K;ENSP00000055163:E1144K;ENSP00000356116:E1197K;ENSP00000275248:E1139K;ENSP00000412835:E666K;ENSP00000313006:E619K;ENSP00000383596:E211K	ENSP00000275248:E1139K	E	+	1	0	ARID1B	157547180	1.000000	0.71417	0.893000	0.35052	0.991000	0.79684	9.858000	0.99539	2.793000	0.96121	0.655000	0.94253	GAA		0.577	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	53	0	0	0	0.001168	0	5	53				
IGF2R	3482	broad.mit.edu	37	6	160523695	160523695	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:160523695G>C	ENST00000356956.1	+	46	7135	c.6987G>C	c.(6985-6987)aaG>aaC	p.K2329N	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2329					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.K2329N(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCTACAAGAAGGAGAGGAGGT	0.597																																							uc003qta.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(6985-6987)AAG>AAC		insulin-like growth factor 2 receptor precursor							19.0	18.0	18.0					6																	160523695		2202	4299	6501	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160523695G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6987G>C	6.37:g.160523695G>C	ENSP00000349437:p.Lys2329Asn						p.K2329N	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	46	7135	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2329			Cytoplasmic (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6987G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127273	0.56721	.	.	ENSG00000197081	ENST00000356956	T	0.13538	2.58	5.34	3.3	0.37823	.	0.153058	0.50627	D	0.000106	T	0.19485	0.0468	M	0.81682	2.555	0.51012	D	0.999903	D	0.76494	0.999	P	0.60789	0.879	T	0.01639	-1.1306	10	0.62326	D	0.03	-2.1173	6.2849	0.21027	0.3807:0.0:0.6193:0.0	.	2329	P11717	MPRI_HUMAN	N	2329	ENSP00000349437:K2329N	ENSP00000349437:K2329N	K	+	3	2	IGF2R	160443685	1.000000	0.71417	0.995000	0.50966	0.458000	0.32498	2.263000	0.43293	1.263000	0.44181	0.591000	0.81541	AAG		0.597	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		7	6	0	0	0	0.001984	0	7	6				
SLC22A3	6581	broad.mit.edu	37	6	160858107	160858107	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:160858107C>T	ENST00000275300.2	+	7	1304	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	SLC22A3_ENST00000392145.1_Silent_p.F384F	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	384					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)	p.F384F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	TAGACTTTTTCATCTCGGGCG	0.507																																							uc003qti.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1150-1152)TTC>TTT		solute carrier family 22 member 3							134.0	145.0	141.0					6																	160858107		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858107C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1152C>T	6.37:g.160858107C>T						SLC22A3_uc011efx.1_RNA	p.F384F	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1179	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	384			Helical; (Potential).		Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.1152C>T	CCDS5277.1																																																																																				0.507	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		15	177	0	0	0	0.003163	0	15	177				
PARK2	5071	broad.mit.edu	37	6	161969909	161969909	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:161969909C>G	ENST00000366898.1	-	9	1162	c.1060G>C	c.(1060-1062)Ggg>Cgg	p.G354R	PARK2_ENST00000366894.1_Missense_Mutation_p.G163R|PARK2_ENST00000366896.1_Missense_Mutation_p.G205R|PARK2_ENST00000366897.1_Missense_Mutation_p.G326R|PARK2_ENST00000338468.3_Missense_Mutation_p.G163R|PARK2_ENST00000366892.1_Missense_Mutation_p.G354R	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	354					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.G354R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCATTGCCCCCTTCGCAGGTG	0.612																																							uc003qtx.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1060-1062)GGG>CGG		parkin isoform 1							79.0	84.0	82.0					6																	161969909		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969909C>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1060G>C	6.37:g.161969909C>G	ENSP00000355865:p.Gly354Arg					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.G163R|PARK2_uc003qtw.3_Missense_Mutation_p.G163R|PARK2_uc003qty.3_Missense_Mutation_p.G326R|PARK2_uc003qtz.3_Missense_Mutation_p.G205R|PARK2_uc010kke.1_Missense_Mutation_p.G373R|PARK2_uc011egf.1_Missense_Mutation_p.G28R	p.G354R	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1194	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	354			IBR-type.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1060G>C	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	3.510	-0.099996	0.07010	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	T;T;T;T;T;D	0.89875	-1.34;-1.34;-1.34;-1.34;-1.34;-2.58	5.72	2.78	0.32641	Zinc finger, C6HC-type (2);	0.693137	0.13571	N	0.378099	T	0.60090	0.2242	N	0.14661	0.345	0.18873	N	0.999983	B;B;B;B;B	0.16166	0.007;0.003;0.008;0.016;0.005	B;B;B;B;B	0.17722	0.01;0.017;0.018;0.019;0.017	T	0.49808	-0.8900	10	0.10636	T	0.68	.	10.3468	0.43911	0.0:0.5635:0.3542:0.0822	.	373;205;326;354;163	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	R	354;326;205;163;163;163;354	ENSP00000355865:G354R;ENSP00000355863:G326R;ENSP00000355862:G205R;ENSP00000355860:G163R;ENSP00000343589:G163R;ENSP00000355858:G354R	ENSP00000343589:G163R	G	-	1	0	PARK2	161889899	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	1.096000	0.30976	0.757000	0.33036	-0.145000	0.13849	GGG		0.612	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			30	108	0	0	0	0.007291	0	30	108				
PARK2	5071	broad.mit.edu	37	6	162394430	162394430	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:162394430C>A	ENST00000366898.1	-	6	740	c.638G>T	c.(637-639)gGa>gTa	p.G213V	PARK2_ENST00000366894.1_Missense_Mutation_p.G22V|PARK2_ENST00000366896.1_Missense_Mutation_p.G64V|PARK2_ENST00000366897.1_Missense_Mutation_p.G185V|PARK2_ENST00000338468.3_Missense_Mutation_p.G22V|PARK2_ENST00000366892.1_Missense_Mutation_p.G213V	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	213	SYT11 binding 1.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.G213V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGGGTGTGCTCCACATTTAAA	0.413																																							uc003qtx.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(637-639)GGA>GTA		parkin isoform 1							140.0	116.0	124.0					6																	162394430		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162394430C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.638G>T	6.37:g.162394430C>A	ENSP00000355865:p.Gly213Val					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.G22V|PARK2_uc003qtw.3_Missense_Mutation_p.G22V|PARK2_uc003qty.3_Missense_Mutation_p.G185V|PARK2_uc003qtz.3_Missense_Mutation_p.G64V|PARK2_uc010kke.1_Missense_Mutation_p.G213V	p.G213V	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	6	772	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	213			SYT11 binding 1.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.638G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351742	0.41700	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.93019	-2.76;-2.9;-3.15;-2.47;-2.47;-2.82	4.81	3.92	0.45320	.	0.226089	0.36972	N	0.002316	D	0.92414	0.7592	L	0.52364	1.645	0.49582	D	0.999803	D;D;P;P;P	0.60160	0.974;0.987;0.911;0.751;0.956	P;P;B;B;P	0.58620	0.842;0.497;0.319;0.319;0.489	D	0.92770	0.6231	10	0.66056	D	0.02	.	12.515	0.56028	0.0:0.8312:0.1688:0.0	.	213;64;185;213;22	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	V	213;185;64;22;22;22;213;134	ENSP00000355865:G213V;ENSP00000355863:G185V;ENSP00000355862:G64V;ENSP00000355860:G22V;ENSP00000343589:G22V;ENSP00000355858:G213V	ENSP00000343589:G22V	G	-	2	0	PARK2	162314420	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.565000	0.45939	1.120000	0.41904	0.650000	0.86243	GGA		0.413	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			11	39	1	0	3.03607e-14	0.001368	4.82016e-14	11	39				
THBS2	7058	broad.mit.edu	37	6	169629714	169629714	+	Missense_Mutation	SNP	C	C	T	rs61736310		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:169629714C>T	ENST00000366787.3	-	15	2461	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	738					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D738N(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCACAGGCATCGCCAATCCCG	0.527																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2212-2214)GAT>AAT		thrombospondin 2 precursor		C	ASN/ASP	0,4406		0,0,2203	209.0	181.0	190.0		2212	4.5	0.8	6	dbSNP_129	190	3,8597	3.0+/-9.4	0,3,4297	no	missense	THBS2	NM_003247.2	23	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	738/1173	169629714	3,13003	2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629714C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2212G>A	6.37:g.169629714C>T	ENSP00000355751:p.Asp738Asn						p.D738N	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2460	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	738			TSP type-3 2.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2212G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648100	0.67358	0.0	3.49E-4	ENSG00000186340	ENST00000366787	D	0.99919	-8.0	4.51	4.51	0.55191	.	0.163457	0.27710	U	0.018163	D	0.99674	0.9878	M	0.73753	2.245	0.58432	D	0.999998	B	0.29909	0.261	B	0.23574	0.047	D	0.99924	1.1272	10	0.59425	D	0.04	-33.0695	17.201	0.86906	0.0:1.0:0.0:0.0	.	738	P35442	TSP2_HUMAN	N	738	ENSP00000355751:D738N	ENSP00000355751:D738N	D	-	1	0	THBS2	169371639	1.000000	0.71417	0.751000	0.31187	0.679000	0.39708	7.271000	0.78506	2.211000	0.71520	0.579000	0.79373	GAT		0.527	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		15	151	0	0	0	0.006122	0	15	151				
WDR27	253769	broad.mit.edu	37	6	170033053	170033053	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:170033053C>A	ENST00000448612.1	-	21	2322	c.2213G>T	c.(2212-2214)tGc>tTc	p.C738F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.C611F|WDR27_ENST00000333572.6_Missense_Mutation_p.C738F	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	708						nucleus (GO:0005634)		p.C738F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TTTATTTTGGCAGATTTGATG	0.448																																							uc003qwx.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2212-2214)TGC>TTC		RecName: Full=WD repeat-containing protein 27;							80.0	81.0	80.0					6																	170033053		1912	4122	6034	SO:0001583	missense	253769							g.chr6:170033053C>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2213G>T	6.37:g.170033053C>A	ENSP00000416289:p.Cys738Phe					WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.C738F|WDR27_uc003qwy.2_Missense_Mutation_p.C611F	p.C738F			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	21	2733	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	708			WD 8.		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.2213G>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727610	0.69074	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.37235	4.98;1.21;4.98	5.04	5.04	0.67666	.	0.171259	0.41605	D	0.000848	T	0.36880	0.0983	N	0.20401	0.57	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	P;D;D	0.75020	0.77;0.961;0.985	T	0.43798	-0.9369	10	0.72032	D	0.01	-23.3596	17.169	0.86824	0.0:1.0:0.0:0.0	.	738;611;738	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	F	738;738;611	ENSP00000416289:C738F;ENSP00000330265:C738F;ENSP00000397869:C611F	ENSP00000330265:C738F	C	-	2	0	WDR27	169774978	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	3.182000	0.50910	2.321000	0.78463	0.650000	0.86243	TGC		0.448	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		7	26	1	0	2.0095e-06	0.001984	2.51391e-06	7	26				
DLL1	28514	broad.mit.edu	37	6	170592564	170592564	+	Silent	SNP	G	G	A	rs573197356	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:170592564G>A	ENST00000366756.3	-	9	2136	c.1803C>T	c.(1801-1803)gaC>gaT	p.D601D		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	601					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.D601D(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGACTGAGATGTCCTTCTCAC	0.637																																							uc003qxm.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(1801-1803)GAC>GAT		delta-like 1 precursor							209.0	184.0	192.0					6																	170592564		2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592564G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1803C>T	6.37:g.170592564G>A							p.D601D	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2273	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	601			Cytoplasmic (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1803C>T	CCDS5313.1																																																																																				0.637	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			11	110	0	0	0	0.00245	0	11	110				
FAM120B	84498	broad.mit.edu	37	6	170627006	170627006	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr6:170627006G>T	ENST00000476287.1	+	2	636	c.528G>T	c.(526-528)ctG>ctT	p.L176L	FAM120B_ENST00000537664.1_Silent_p.L199L|FAM120B_ENST00000540480.1_Silent_p.L188L|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	176					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L176L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTGGGATTCTGGGGGAAGACA	0.478																																							uc003qxp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(526-528)CTG>CTT		family with sequence similarity 120B							87.0	90.0	89.0					6																	170627006		2203	4300	6503	SO:0001819	synonymous_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627006G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.528G>T	6.37:g.170627006G>T						FAM120B_uc003qxo.1_Silent_p.L176L|FAM120B_uc011ehd.1_Intron	p.L176L	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	636	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	176					B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	c.528G>T	CCDS5314.1																																																																																				0.478	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		35	90	1	0	1.36615e-20	0.002836	2.35859e-20	35	90				
PDGFA	5154	broad.mit.edu	37	7	550517	550517	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:550517G>A	ENST00000354513.5	-	4	774	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	PDGFA_ENST00000426681.2_5'Flank|PDGFA_ENST00000402802.3_Missense_Mutation_p.R128C	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	128					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R128C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CCGGTGCAGCGTTTCACCTCC	0.647																																							uc003sir.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(382-384)CGC>TGC		platelet-derived growth factor alpha isoform 1							61.0	46.0	51.0					7																	550517		2203	4300	6503	SO:0001583	missense	5154				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:550517G>A		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.382C>T	7.37:g.550517G>A	ENSP00000346508:p.Arg128Cys					PDGFA_uc003sis.2_Missense_Mutation_p.R128C|PDGFA_uc003sit.1_Missense_Mutation_p.R142C	p.R128C	NM_002607	NP_002598	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	4	1225	-		Ovarian(82;0.0112)	128					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.382C>T	CCDS34578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.29|18.29	3.591664|3.591664	0.66219|0.66219	.|.	.|.	ENSG00000197461|ENSG00000197461	ENST00000402802;ENST00000354513|ENST00000400761	T;T|.	0.70164|.	-0.42;-0.46|.	4.69|4.69	4.69|4.69	0.59074|0.59074	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85991|0.85991	0.5826|0.5826	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	D|D	0.90098|0.90098	0.4182|0.4182	10|5	0.87932|.	D|.	0|.	-27.4714|-27.4714	17.6533|17.6533	0.88171|0.88171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	142;128;128|.	Q32M96;P04085-2;P04085|.	.;.;PDGFA_HUMAN|.	C|M	128|134	ENSP00000383889:R128C;ENSP00000346508:R128C|.	ENSP00000346508:R128C|.	R|T	-|-	1|2	0|0	PDGFA|PDGFA	517043|517043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.094000|0.094000	0.18550|0.18550	7.222000|7.222000	0.78025|0.78025	2.153000|2.153000	0.67306|0.67306	0.558000|0.558000	0.71614|0.71614	CGC|ACG		0.647	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			7	14	0	0	0	0.00308	0	7	14				
INTS1	26173	broad.mit.edu	37	7	1538688	1538688	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:1538688G>A	ENST00000404767.3	-	8	1145	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.L482F	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	354					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.L482F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGGAGGTGAGGAGCCGCAGG	0.677																																							uc003skn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)CTC>TTC		integrator complex subunit 1							15.0	18.0	17.0					7																	1538688		2002	4174	6176	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538688G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1060C>T	7.37:g.1538688G>A	ENSP00000385722:p.Leu354Phe					INTS1_uc003skq.2_Missense_Mutation_p.L354F	p.L354F	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	8	1161	-		Ovarian(82;0.0253)	354					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1060C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251577	0.95305	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.68181	1.95;-0.31	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84070	0.0379	10	0.87932	D	0	.	18.5042	0.90892	0.0:0.0:1.0:0.0	.	482;354	A4D212;Q8N201	.;INT1_HUMAN	F	354;482	ENSP00000385722:L354F;ENSP00000374121:L482F	ENSP00000374121:L482F	L	-	1	0	INTS1	1505214	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.565000	0.82337	2.363000	0.80096	0.650000	0.86243	CTC		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			4	7	0	0	0	0.009096	0	4	7				
SDK1	221935	broad.mit.edu	37	7	4007027	4007027	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:4007027G>T	ENST00000404826.2	+	10	1646	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	SDK1_ENST00000389531.3_Missense_Mutation_p.V503L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	503	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V503L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGGTGTGAGGTGTCCGGGGC	0.542																																							uc003smx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(1507-1509)GTG>TTG		sidekick 1 precursor							94.0	91.0	92.0					7																	4007027		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4007027G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1507G>T	7.37:g.4007027G>T	ENSP00000385899:p.Val503Leu						p.V503L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	10	1646	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	503			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1507G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214992	0.79352	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.74421	-0.84;-0.84	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.173545	0.38959	N	0.001513	T	0.77738	0.4175	M	0.64170	1.965	0.39372	D	0.966108	D	0.54397	0.966	P	0.50934	0.654	T	0.80039	-0.1549	10	0.52906	T	0.07	.	12.9855	0.58590	0.0735:0.0:0.9264:0.0	.	503	Q7Z5N4	SDK1_HUMAN	L	503	ENSP00000385899:V503L;ENSP00000374182:V503L	ENSP00000374182:V503L	V	+	1	0	SDK1	3973553	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.066000	0.71185	2.659000	0.90383	0.655000	0.94253	GTG		0.542	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		14	82	1	0	3.27435e-08	0.00245	4.40009e-08	14	82				
FOXK1	221937	broad.mit.edu	37	7	4796696	4796696	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:4796696G>T	ENST00000328914.4	+	5	1122	c.1122G>T	c.(1120-1122)ggG>ggT	p.G374G	FOXK1_ENST00000446823.1_Silent_p.G211G	NM_001037165.1	NP_001032242.1			forkhead box K1									p.G352G(1)|p.G374G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGGAGCCTGGGAAGGGGTCCT	0.552																																							uc003snc.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1120-1122)GGG>GGT		forkhead box K1							77.0	84.0	82.0					7																	4796696		2203	4300	6503	SO:0001819	synonymous_variant	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796696G>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1122G>T	7.37:g.4796696G>T						FOXK1_uc003sna.1_Silent_p.G211G	p.G374G	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1132	+		Ovarian(82;0.0175)	374			Fork-head.			Silent	SNP	ENST00000328914.4	37	c.1122G>T	CCDS34591.1																																																																																				0.552	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			44	86	1	0	2.37825e-27	0.002522	4.32409e-27	44	86				
RADIL	55698	broad.mit.edu	37	7	4874576	4874576	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:4874576G>T	ENST00000399583.3	-	4	1265	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	RADIL_ENST00000538469.1_Missense_Mutation_p.Q120K|RADIL_ENST00000536091.1_Missense_Mutation_p.Q360K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	360	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.Q360K(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCTGGGCCTGCGCGGGGTCC	0.746																																							uc003snj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1078-1080)CAG>AAG		Rap GTPase interactor							9.0	12.0	11.0					7																	4874576		1856	4072	5928	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874576G>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1078C>A	7.37:g.4874576G>T	ENSP00000382492:p.Gln360Lys					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.Q120K|RADIL_uc011jwd.1_RNA	p.Q360K	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1251	-		Ovarian(82;0.0175)	360			FHA.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1078C>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	-	0.840	-0.742297	0.03088	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.06142	3.34;3.34;3.34	4.45	4.45	0.53987	.	0.344959	0.27012	N	0.021366	T	0.04497	0.0123	L	0.31294	0.92	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.41893	-0.9483	10	0.07175	T	0.84	-24.3173	10.1483	0.42778	0.0:0.0:0.785:0.215	.	360	Q96JH8	RADIL_HUMAN	K	360;331;94;360;120	ENSP00000382492:Q360K;ENSP00000442533:Q360K;ENSP00000442966:Q120K	ENSP00000320946:Q331K	Q	-	1	0	RADIL	4841102	0.765000	0.28485	0.823000	0.32752	0.901000	0.52897	1.596000	0.36718	2.046000	0.60703	0.651000	0.88453	CAG		0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		5	12	1	0	5.9392e-07	0.001168	7.59035e-07	5	12				
TNRC18	84629	broad.mit.edu	37	7	5410699	5410699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:5410699C>A	ENST00000430969.1	-	11	3874	c.3526G>T	c.(3526-3528)Gag>Tag	p.E1176*	TNRC18_ENST00000399537.4_Nonsense_Mutation_p.E1176*	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1176	Pro-rich.						chromatin binding (GO:0003682)	p.E1176*(2)|p.E231*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGCGGCGACTCCAGAGGCGGC	0.716																																							uc003soi.3		NA																	3	Substitution - Nonsense(3)		lung(3)		0						c.(3526-3528)GAG>TAG		trinucleotide repeat containing 18							16.0	21.0	19.0					7																	5410699		2045	4157	6202	SO:0001587	stop_gained	84629						DNA binding	g.chr7:5410699C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3526G>T	7.37:g.5410699C>A	ENSP00000395538:p.Glu1176*						p.E1176*	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	3875	-		Ovarian(82;0.142)	1176			Pro-rich.		A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP	ENST00000430969.1	37	c.3526G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	44	10.556071	0.99427	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	.	.	.	4.57	3.67	0.42095	.	0.885807	0.09388	N	0.808903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.402	0.67053	0.0:0.8373:0.1627:0.0	.	.	.	.	X	1176;1176;231;231	.	ENSP00000330383:E231X	E	-	1	0	TNRC18	5377225	0.998000	0.40836	0.245000	0.24217	0.387000	0.30353	2.820000	0.48057	1.003000	0.39130	0.462000	0.41574	GAG		0.716	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	40	1	0	0.00024832	0.009096	0.000283269	4	40				
TNRC18	84629	broad.mit.edu	37	7	5427458	5427458	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:5427458C>A	ENST00000430969.1	-	5	2345	c.1997G>T	c.(1996-1998)cGc>cTc	p.R666L	TNRC18_ENST00000399537.4_Missense_Mutation_p.R666L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	666							chromatin binding (GO:0003682)	p.R666L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGAGCCCTCGCGCCCGAAAGC	0.731																																							uc003soi.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1996-1998)CGC>CTC		trinucleotide repeat containing 18							10.0	13.0	12.0					7																	5427458		1889	4051	5940	SO:0001583	missense	84629						DNA binding	g.chr7:5427458C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1997G>T	7.37:g.5427458C>A	ENSP00000395538:p.Arg666Leu					TNRC18_uc010ksx.1_Missense_Mutation_p.R592L	p.R666L	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	2346	-		Ovarian(82;0.142)	666					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.1997G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	15.15	2.747888	0.49257	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.18016	2.24;2.24	4.47	4.47	0.54385	.	.	.	.	.	T	0.42787	0.1218	M	0.71036	2.16	0.44275	D	0.997131	D	0.89917	1.0	D	0.85130	0.997	T	0.46843	-0.9162	9	0.87932	D	0	.	17.1636	0.86809	0.0:1.0:0.0:0.0	.	666	O15417	TNC18_HUMAN	L	666;666;68	ENSP00000382452:R666L;ENSP00000395538:R666L	ENSP00000382452:R666L	R	-	2	0	TNRC18	5393984	1.000000	0.71417	0.820000	0.32676	0.829000	0.46940	7.161000	0.77505	2.016000	0.59253	0.556000	0.70494	CGC		0.731	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	35	1	0	0.004672	0.004672	0.00508113	3	35				
RNF216	54476	broad.mit.edu	37	7	5680851	5680851	+	Missense_Mutation	SNP	T	T	A	rs141635295		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:5680851T>A	ENST00000425013.2	-	15	2369	c.2145A>T	c.(2143-2145)caA>caT	p.Q715H	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.Q772H	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	715					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.Q772H(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGCGGGGATGTTGGCAGAAAT	0.507																																							uc003soy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2143-2145)CAA>CAT		ring finger protein 216 isoform b							79.0	78.0	78.0					7																	5680851		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5680851T>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2145A>T	7.37:g.5680851T>A	ENSP00000404602:p.Gln715His					RNF216_uc010ksz.1_Missense_Mutation_p.Q337H|RNF216_uc010kta.1_Missense_Mutation_p.Q337H|RNF216_uc011jwj.1_Missense_Mutation_p.Q337H|RNF216_uc003sox.1_Missense_Mutation_p.Q772H	p.Q715H	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	15	2335	-		Ovarian(82;0.07)	715					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2145A>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312514	0.81358	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.62498	0.02;0.02	5.18	3.3	0.37823	Zinc finger, C6HC-type (1);	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	L	0.55481	1.735	0.53005	D	0.999962	P;D	0.89917	0.745;1.0	P;D	0.91635	0.64;0.999	T	0.72090	-0.4395	10	0.72032	D	0.01	-11.9842	10.55	0.45083	0.0:0.841:0.0:0.159	.	715;772	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	H	715;772;527	ENSP00000404602:Q715H;ENSP00000374552:Q772H	ENSP00000374552:Q772H	Q	-	3	2	RNF216	5647377	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.788000	0.38714	0.553000	0.29044	-0.313000	0.08912	CAA		0.507	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		38	67	0	0	0	0.00623	0	38	67				
ICA1	3382	broad.mit.edu	37	7	8183563	8183563	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:8183563C>T	ENST00000402384.3	-	9	1110	c.844G>A	c.(844-846)Gag>Aag	p.E282K	ICA1_ENST00000401396.1_Missense_Mutation_p.E270K|ICA1_ENST00000422063.2_Missense_Mutation_p.E282K|ICA1_ENST00000396675.3_Missense_Mutation_p.E282K|ICA1_ENST00000265577.7_Missense_Mutation_p.E281K|ICA1_ENST00000406470.2_Missense_Mutation_p.E282K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	282					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.E282K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCTTCTTCTCTTCTTTCTCA	0.403																																							uc003srm.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(844-846)GAG>AAG		islet cell autoantigen 1							165.0	151.0	155.0					7																	8183563		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8183563C>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.844G>A	7.37:g.8183563C>T	ENSP00000385570:p.Glu282Lys					ICA1_uc010ktr.2_Missense_Mutation_p.E282K|ICA1_uc003srl.2_Missense_Mutation_p.E270K|ICA1_uc003srn.3_Missense_Mutation_p.E208K|ICA1_uc003srp.3_Missense_Mutation_p.E281K|ICA1_uc010kts.2_Intron|ICA1_uc003srq.2_Missense_Mutation_p.E282K|ICA1_uc003srr.2_Missense_Mutation_p.E281K|ICA1_uc003sro.3_Missense_Mutation_p.E282K	p.E282K	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	9	911	-		Ovarian(82;0.0612)	282					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.844G>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513614	0.00975	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	4.59	2.76	0.32466	Islet cell autoantigen Ica1, C-terminal (1);	0.521288	0.21608	N	0.071835	T	0.26955	0.0660	N	0.12569	0.235	0.41275	D	0.986875	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.11329	0.004;0.006;0.006;0.004	T	0.09574	-1.0668	9	0.06365	T	0.9	-5.6492	7.7689	0.28997	0.0:0.8046:0.0:0.1954	.	282;281;282;270	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	K	282;282;281;282;270;282	.	ENSP00000265577:E281K	E	-	1	0	ICA1	8150088	1.000000	0.71417	0.999000	0.59377	0.117000	0.20001	1.503000	0.35715	0.662000	0.31006	-0.378000	0.06908	GAG		0.403	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		18	40	0	0	0	0.010504	0	18	40				
HDAC9	9734	broad.mit.edu	37	7	18832988	18832988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:18832988G>A	ENST00000432645.2	+	16	2226	c.2226G>A	c.(2224-2226)tgG>tgA	p.W742*	HDAC9_ENST00000406451.4_Nonsense_Mutation_p.W742*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.W701*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.W745*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	742	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.W745*(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACACCATTTGGAATGAGCTAC	0.532																																							uc003suh.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2224-2226)TGG>TGA		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						54.0	54.0	54.0					7																	18832988		2139	4251	6390	SO:0001587	stop_gained	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18832988G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2226G>A	7.37:g.18832988G>A	ENSP00000410337:p.Trp742*					HDAC9_uc003sue.2_Nonsense_Mutation_p.W742*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.W742*|HDAC9_uc003sui.2_Nonsense_Mutation_p.W745*|HDAC9_uc003suj.2_Nonsense_Mutation_p.W701*|HDAC9_uc003suk.2_5'UTR|HDAC9_uc003sua.1_Nonsense_Mutation_p.W720*	p.W742*	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			16	2267	+	all_lung(11;0.187)		742			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	ENST00000432645.2	37	c.2226G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	40	8.157791	0.98683	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.72	5.72	0.89469	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.9288	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	742;701;742;745;654	.	ENSP00000339165:W654X	W	+	3	0	HDAC9	18799513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.648000	0.67930	2.711000	0.92665	0.655000	0.94253	TGG		0.532	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			3	9	0	0	0	0.004672	0	3	9				
ABCB5	340273	broad.mit.edu	37	7	20691247	20691247	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:20691247G>T	ENST00000404938.2	+	13	2188		c.e13+1		ABCB5_ENST00000258738.6_Splice_Site|ABCB5_ENST00000406935.1_Splice_Site|ABCB5_ENST00000443026.2_Splice_Site|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTTCCTAATGTGAGTACACT	0.428																																							uc003suw.3		NA																	3	Unknown(3)		lung(3)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.e4+1		ATP-binding cassette, sub-family B, member 5							216.0	170.0	185.0					7																	20691247		2203	4300	6503	SO:0001630	splice_region_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20691247G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1536+1G>T	7.37:g.20691247G>T						ABCB5_uc010kuh.2_Splice_Site_p.N512_splice|ABCB5_uc003suv.3_Splice_Site_p.N67_splice|ABCB5_uc011jyi.1_Splice_Site_p.N67_splice	p.N67_splice	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			4	747	+								A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Splice_Site	SNP	ENST00000404938.2	37	c.201_splice	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015834	0.75161	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7954	0.85600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCB5	20657772	1.000000	0.71417	0.992000	0.48379	0.932000	0.56968	9.468000	0.97676	2.634000	0.89283	0.591000	0.81541	.		0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	Intron	26	54	1	0	1.66031e-10	0.003954	2.42587e-10	26	54				
ABCB5	340273	broad.mit.edu	37	7	20721145	20721145	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:20721145T>C	ENST00000404938.2	+	15	2377	c.1725T>C	c.(1723-1725)acT>acC	p.T575T	ABCB5_ENST00000258738.6_Silent_p.T130T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	575	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.T130T(1)|p.T575T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGGTCGGACTACAATCGTGG	0.408																																							uc003suw.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(388-390)ACT>ACC		ATP-binding cassette, sub-family B, member 5							129.0	116.0	120.0					7																	20721145		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20721145T>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1725T>C	7.37:g.20721145T>C						ABCB5_uc010kuh.2_Silent_p.T575T	p.T130T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			6	936	+			130			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.390T>C	CCDS55090.1																																																																																				0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		6	64	0	0	0	0.001168	0	6	64				
DNAH11	8701	broad.mit.edu	37	7	21640486	21640486	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:21640486G>T	ENST00000409508.3	+	16	3224	c.3193G>T	c.(3193-3195)Gat>Tat	p.D1065Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1065Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1065	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1065Y(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGATGAAATGGATGCTCATGC	0.438									Kartagener syndrome																														uc003svc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(3193-3195)GAT>TAT		dynein, axonemal, heavy chain 11							141.0	134.0	136.0					7																	21640486		1919	4134	6053	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640486G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3193G>T	7.37:g.21640486G>T	ENSP00000475939:p.Asp1065Tyr						p.D1065Y	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			16	3224	+			1065			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3193G>T		.	.	.	.	.	.	.	.	.	.	G	13.24	2.178569	0.38511	.	.	ENSG00000105877	ENST00000328843	T	0.25085	1.82	5.43	4.54	0.55810	.	0.195687	0.43747	D	0.000525	T	0.36771	0.0979	.	.	.	0.42936	D	0.994337	D	0.53885	0.963	P	0.50659	0.647	T	0.25572	-1.0128	9	0.87932	D	0	.	13.253	0.60062	0.077:0.0:0.923:0.0	.	1065	Q96DT5	DYH11_HUMAN	Y	1065	ENSP00000330671:D1065Y	ENSP00000330671:D1065Y	D	+	1	0	DNAH11	21607011	1.000000	0.71417	0.046000	0.18839	0.098000	0.18820	7.099000	0.76981	2.563000	0.86464	0.563000	0.77884	GAT		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		62	187	1	0	1.1362e-29	0.00361	2.09801e-29	62	187				
CBX3	11335	broad.mit.edu	37	7	26251814	26251814	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:26251814G>T	ENST00000337620.4	+	6	966	c.538G>T	c.(538-540)Gat>Tat	p.D180Y	CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_Missense_Mutation_p.D180Y	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	180					chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)	p.D180Y(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTGTCCAGAAGATGAAGCTCA	0.313																																							uc003sxt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)GAT>TAT		chromobox homolog 3							62.0	60.0	61.0					7																	26251814		2203	4299	6502	SO:0001583	missense	11335				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	g.chr7:26251814G>T	U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.538G>T	7.37:g.26251814G>T	ENSP00000336687:p.Asp180Tyr					CBX3_uc003sxu.2_Missense_Mutation_p.D180Y|CBX3_uc003sxv.2_3'UTR	p.D180Y	NM_007276	NP_009207	Q13185	CBX3_HUMAN			6	649	+			180					Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Missense_Mutation	SNP	ENST00000337620.4	37	c.538G>T	CCDS5398.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500859	0.85176	.	.	ENSG00000122565	ENST00000337620;ENST00000396386	T;T	0.53857	0.6;0.6	5.36	5.36	0.76844	.	0.044173	0.85682	D	0.000000	T	0.71392	0.3334	M	0.72894	2.215	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.74275	-0.3718	10	0.87932	D	0	.	19.501	0.95095	0.0:0.0:1.0:0.0	.	180	Q13185	CBX3_HUMAN	Y	180	ENSP00000336687:D180Y;ENSP00000379670:D180Y	ENSP00000336687:D180Y	D	+	1	0	CBX3	26218339	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.318000	0.79029	2.673000	0.90976	0.650000	0.86243	GAT		0.313	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276		6	37	1	0	0.00198382	0.001984	0.00218689	6	37				
HOXA10	3206	broad.mit.edu	37	7	27213050	27213050	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:27213050C>A	ENST00000283921.4	-	1	875	c.876G>T	c.(874-876)gcG>gcT	p.A292A	HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	292				A -> G (in Ref. 1; CAB86198). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A292A(1)|p.A275A(1)		breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						ACGACGCGTGCGCCTCCTCGT	0.741																																							uc011jzm.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(874-876)GCG>GCT		homeobox A10 isoform a							6.0	8.0	7.0					7																	27213050		1629	3513	5142	SO:0001819	synonymous_variant	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213050C>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.876G>T	7.37:g.27213050C>A						HOXA10_uc003syw.3_Intron	p.A292A	NM_018951	NP_061824	P31260	HXA10_HUMAN			1	906	-			292	A -> G (in Ref. 1; CAB86198).				O43370|O43605|Q15949|Q504T1	Silent	SNP	ENST00000283921.4	37	c.876G>T	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836513	0.16891	.	.	ENSG00000253293	ENST00000381834	.	.	.	4.82	-5.62	0.02481	.	2.470190	0.01652	N	0.024636	T	0.55513	0.1925	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55927	-0.8063	6	0.87932	D	0	.	4.6827	0.12743	0.6097:0.1242:0.1222:0.1439	.	.	.	.	S	171	.	ENSP00000371256:A171S	A	-	1	0	HOXA10	27179575	0.043000	0.20138	0.984000	0.44739	0.989000	0.77384	-1.021000	0.03615	-0.611000	0.05709	-0.262000	0.10625	GCA		0.741	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			4	16	1	0	0.000602214	0.000602	0.000674971	4	16				
NOD1	10392	broad.mit.edu	37	7	30490920	30490920	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:30490920G>T	ENST00000222823.4	-	6	2638	c.2113C>A	c.(2113-2115)Cgg>Agg	p.R705R		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	705					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.R705R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGGGCCAGCCGCTTGGGGAAG	0.627																																							uc003tav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2113-2115)CGG>AGG		nucleotide-binding oligomerization domain							98.0	104.0	102.0					7																	30490920		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30490920G>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2113C>A	7.37:g.30490920G>T							p.R705R	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	2636	-			705			LRR 2.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.2113C>A	CCDS5427.1																																																																																				0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			28	111	1	0	3.73148e-12	0.007291	5.67273e-12	28	111				
PDE1C	5137	broad.mit.edu	37	7	31877505	31877505	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:31877505G>A	ENST00000396191.1	-	10	1516	c.1061C>T	c.(1060-1062)aCt>aTt	p.T354I	PDE1C_ENST00000396182.2_Missense_Mutation_p.T354I|PDE1C_ENST00000321453.7_Missense_Mutation_p.T354I|PDE1C_ENST00000396193.1_Missense_Mutation_p.T414I|PDE1C_ENST00000396184.3_Missense_Mutation_p.T354I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	354	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.T354I(2)|p.T414I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTGCAGAGCAGTCTTCATTGC	0.433																																							uc003tcm.1		NA																	3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1060-1062)ACT>ATT		phosphodiesterase 1C							191.0	184.0	187.0					7																	31877505		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31877505G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1061C>T	7.37:g.31877505G>A	ENSP00000379494:p.Thr354Ile					PDE1C_uc003tcn.1_Missense_Mutation_p.T354I|PDE1C_uc003tco.1_Missense_Mutation_p.T414I|PDE1C_uc003tcr.2_Missense_Mutation_p.T354I|PDE1C_uc003tcs.2_Missense_Mutation_p.T354I	p.T354I	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		10	1530	-			354			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1061C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953691	0.53293	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.53	4.59	0.56863	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.090141	0.64402	D	0.000001	T	0.73079	0.3541	M	0.66297	2.02	0.43021	D	0.994577	B;B;B	0.24920	0.016;0.017;0.114	B;B;B	0.21917	0.037;0.009;0.03	T	0.74087	-0.3778	10	0.87932	D	0	.	8.4074	0.32622	0.0:0.1284:0.5786:0.293	.	354;414;354	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	I	414;354;354;354;354	ENSP00000379496:T414I;ENSP00000379494:T354I;ENSP00000318105:T354I;ENSP00000379487:T354I;ENSP00000379485:T354I	ENSP00000318105:T354I	T	-	2	0	PDE1C	31844030	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.689000	0.68234	2.603000	0.88011	0.655000	0.94253	ACT		0.433	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			68	287	0	0	0	0.00361	0	68	287				
FKBP9	11328	broad.mit.edu	37	7	33014286	33014286	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:33014286G>C	ENST00000242209.4	+	2	448	c.279G>C	c.(277-279)ggG>ggC	p.G93G	FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.G146G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	93	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.G93G(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGATCACAGGGATGGACCAGG	0.453																																							uc003tdh.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(13)|ovary(1)	14						c.(277-279)GGG>GGC		FK506 binding protein 9 precursor							151.0	142.0	145.0					7																	33014286		2203	4300	6503	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014286G>C	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.279G>C	7.37:g.33014286G>C						AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_Intron|FKBP9_uc011kal.1_Silent_p.G146G|FKBP9_uc003tdg.2_Silent_p.G93G|FKBP9_uc010kwm.2_5'UTR	p.G93G	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		2	460	+			93			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.279G>C	CCDS5439.1																																																																																				0.453	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		86	219	0	0	0	0.00361	0	86	219				
BMPER	168667	broad.mit.edu	37	7	34014337	34014337	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:34014337T>C	ENST00000297161.2	+	7	891	c.517T>C	c.(517-519)Tat>Cat	p.Y173H	BMPER_ENST00000426693.1_Missense_Mutation_p.Y173H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	173	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.Y173H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGTGTGCAGTATCAAGAAGG	0.483																																							uc011kap.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(517-519)TAT>CAT		BMP-binding endothelial regulator precursor							301.0	264.0	276.0					7																	34014337		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34014337T>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.517T>C	7.37:g.34014337T>C	ENSP00000297161:p.Tyr173His						p.Y173H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			6	631	+			173			VWFC 3.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.517T>C	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937729	0.73557	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.75050	-0.9;-0.9	5.33	5.33	0.75918	von Willebrand factor, type C (3);	0.187252	0.48286	D	0.000191	T	0.80417	0.4619	L	0.60957	1.885	0.50632	D	0.999885	P	0.35363	0.497	P	0.49999	0.628	T	0.79470	-0.1790	10	0.41790	T	0.15	.	14.5761	0.68249	0.0:0.0:0.0:1.0	.	173	Q8N8U9	BMPER_HUMAN	H	173	ENSP00000297161:Y173H;ENSP00000393950:Y173H	ENSP00000297161:Y173H	Y	+	1	0	BMPER	33980862	1.000000	0.71417	0.971000	0.41717	0.740000	0.42216	5.778000	0.68940	2.133000	0.65898	0.533000	0.62120	TAT		0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		18	115	0	0	0	0.006122	0	18	115				
NPSR1	387129	broad.mit.edu	37	7	34889208	34889208	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:34889208T>A	ENST00000360581.1	+	9	1185	c.1057T>A	c.(1057-1059)Ttc>Atc	p.F353I	NPSR1_ENST00000381539.3_Missense_Mutation_p.V386D|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.F287I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	353						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.F353I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGAATGACGTTCCGGGAGAG	0.468																																							uc003teg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(1)	4						c.(1057-1059)TTC>ATC		G protein-coupled receptor for asthma	Halothane(DB01159)						134.0	125.0	128.0					7																	34889208		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34889208T>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.1057T>A	7.37:g.34889208T>A	ENSP00000353788:p.Phe353Ile					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.V386D|NPSR1_uc010kwt.1_Missense_Mutation_p.F200I|NPSR1_uc010kwu.1_Missense_Mutation_p.F143I|NPSR1_uc010kwv.1_Missense_Mutation_p.F287I|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	p.F353I	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			9	1185	+			353			Cytoplasmic (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.1057T>A	CCDS5444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.86|12.86	2.063744|2.063744	0.36373|0.36373	.|.	.|.	ENSG00000187258|ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000334481|ENST00000381539	T;T|T	0.36157|0.73897	1.27;1.27|-0.79	5.24|5.24	2.84|2.84	0.33178|0.33178	.|.	.|4.249060	.|0.00166	.|N	.|0.000016	T|T	0.61788|0.61788	0.2375|0.2375	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|B	0.13145|0.21905	0.007;0.001|0.062	B;B|B	0.13407|0.25506	0.009;0.001|0.061	T|T	0.49447|0.49447	-0.8939|-0.8939	9|10	0.22706|0.44086	T|T	0.39|0.13	7.4597|7.4597	2.8287|2.8287	0.05492|0.05492	0.1455:0.078:0.1518:0.6248|0.1455:0.078:0.1518:0.6248	.|.	287;353|386	Q6W5P4-2;Q6W5P4|Q6W5P4-3	.;NPSR1_HUMAN|.	I|D	353;287;156|386	ENSP00000353788:F353I;ENSP00000370953:F287I|ENSP00000370950:V386D	ENSP00000334093:F156I|ENSP00000370950:V386D	F|V	+|+	1|2	0|0	NPSR1|NPSR1	34855733|34855733	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.337000|0.337000	0.28794|0.28794	1.264000|1.264000	0.33015|0.33015	0.443000|0.443000	0.26582|0.26582	0.454000|0.454000	0.30748|0.30748	TTC|GTT		0.468	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		67	116	0	0	0	0.00361	0	67	116				
ANLN	54443	broad.mit.edu	37	7	36446030	36446030	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:36446030G>C	ENST00000265748.2	+	4	949	c.728G>C	c.(727-729)gGa>gCa	p.G243A	ANLN_ENST00000396068.2_Missense_Mutation_p.G243A	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	243	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.G243A(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCTGCAAGTGGAGCATCTGCT	0.438																																							uc003tff.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(727-729)GGA>GCA		anillin, actin binding protein							140.0	129.0	133.0					7																	36446030		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36446030G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.728G>C	7.37:g.36446030G>C	ENSP00000265748:p.Gly243Ala					ANLN_uc011kaz.1_Missense_Mutation_p.G155A|ANLN_uc003tfg.2_Missense_Mutation_p.G243A|ANLN_uc010kxe.2_Missense_Mutation_p.G243A	p.G243A	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			4	932	+			243			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.728G>C	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742212	0.30865	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.03272	3.99;3.99	5.51	2.66	0.31614	.	0.765819	0.12967	N	0.424486	T	0.05364	0.0142	L	0.55103	1.725	0.38950	D	0.958334	B;B;B;B	0.20887	0.049;0.002;0.004;0.002	B;B;B;B	0.16289	0.015;0.004;0.008;0.004	T	0.18304	-1.0341	10	0.48119	T	0.1	-7.5777	10.6334	0.45549	0.0673:0.3754:0.5574:0.0	.	120;243;243;243	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	A	243	ENSP00000265748:G243A;ENSP00000379380:G243A	ENSP00000265748:G243A	G	+	2	0	ANLN	36412555	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.313000	0.19415	0.356000	0.24157	0.650000	0.86243	GGA		0.438	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		48	113	0	0	0	0.003214	0	48	113				
ELMO1	9844	broad.mit.edu	37	7	36895239	36895239	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:36895239G>T	ENST00000310758.4	-	22	2748	c.2101C>A	c.(2101-2103)Ctg>Atg	p.L701M	ELMO1_ENST00000396045.3_Missense_Mutation_p.L221M|ELMO1_ENST00000442504.1_Missense_Mutation_p.L701M|ELMO1_ENST00000341056.3_Missense_Mutation_p.L403M|ELMO1_ENST00000448602.1_Missense_Mutation_p.L701M|ELMO1_ENST00000396040.2_Missense_Mutation_p.L221M	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	701					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.L701M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATGTTTTCCAGGTCCAGGAGG	0.572																																							uc003tfk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(2101-2103)CTG>ATG		engulfment and cell motility 1 isoform 1							143.0	134.0	137.0					7																	36895239		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895239G>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2101C>A	7.37:g.36895239G>T	ENSP00000312185:p.Leu701Met					ELMO1_uc003tfi.1_Missense_Mutation_p.L221M|ELMO1_uc003tfj.1_Missense_Mutation_p.L221M|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.L605M|ELMO1_uc010kxg.1_Missense_Mutation_p.L701M	p.L701M	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			22	2408	-			701					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.2101C>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889410	0.72524	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.56103	1.12;0.48;2.14;0.48;2.14;2.14	4.77	3.87	0.44632	.	0.092308	0.45126	N	0.000390	T	0.68274	0.2983	M	0.77820	2.39	0.54753	D	0.999989	D	0.71674	0.998	D	0.68621	0.959	T	0.70854	-0.4759	10	0.72032	D	0.01	.	8.7762	0.34762	0.0852:0.0:0.762:0.1528	.	701	Q92556	ELMO1_HUMAN	M	403;221;701;605;221;701;701	ENSP00000342142:L403M;ENSP00000379360:L221M;ENSP00000312185:L701M;ENSP00000379355:L221M;ENSP00000406952:L701M;ENSP00000394458:L701M	ENSP00000312185:L701M	L	-	1	2	ELMO1	36861764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.535000	0.60629	1.337000	0.45525	0.650000	0.86243	CTG		0.572	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		39	131	1	0	8.69298e-16	0.006999	1.42569e-15	39	131				
EPDR1	54749	broad.mit.edu	37	7	37960403	37960403	+	5'UTR	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:37960403G>A	ENST00000199448.4	+	0	241				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Silent_p.P74P|EPDR1_ENST00000425345.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.P74P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGAGGCCACCGAAGGGACAGG	0.672																																							uc003tfp.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(220-222)CCG>CCA		ependymin related protein 1 precursor							25.0	36.0	32.0					7																	37960403		2203	4299	6502	SO:0001623	5_prime_UTR_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960403G>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-139G>A	7.37:g.37960403G>A						EPDR1_uc003tfq.2_Silent_p.P74P|EPDR1_uc010kxh.2_5'Flank	p.P74P	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			1	241	+			Error:Variant_position_missing_in_Q9UM22_after_alignment					A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	c.222G>A	CCDS5454.2																																																																																				0.672	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		28	75	0	0	0	0.00632	0	28	75				
POU6F2	11281	broad.mit.edu	37	7	39500316	39500316	+	Splice_Site	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:39500316T>A	ENST00000403058.1	+	10	1725		c.e10+2		POU6F2_ENST00000559001.1_Splice_Site|POU6F2_ENST00000518318.2_Splice_Site	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2						central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTGCAGGTAACGCGCGCC	0.627																																							uc003thb.1		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e9+2		POU class 6 homeobox 2 isoform 1							25.0	22.0	23.0					7																	39500316		2203	4298	6501	SO:0001630	splice_region_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500316T>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1571+2T>A	7.37:g.39500316T>A							p.R524_splice	NM_007252	NP_009183	P78424	PO6F2_HUMAN			9	1613	+								A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Splice_Site	SNP	ENST00000403058.1	37	c.1571_splice	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184918	0.78677	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5731	0.76354	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU6F2	39466841	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.964000	0.87933	2.080000	0.62538	0.418000	0.28097	.		0.627	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Intron	6	9	0	0	0	0.00308	0	6	9				
HECW1	23072	broad.mit.edu	37	7	43484130	43484130	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:43484130C>G	ENST00000395891.2	+	11	1964	c.1359C>G	c.(1357-1359)ccC>ccG	p.P453P	HECW1_ENST00000453890.1_Silent_p.P453P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	453					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P432P(1)|p.P453P(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCCTGCCCCCAGTGCAGAAG	0.647																																							uc003tid.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1357-1359)CCC>CCG		NEDD4-like ubiquitin-protein ligase 1							15.0	18.0	17.0					7																	43484130		2096	4227	6323	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484130C>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1359C>G	7.37:g.43484130C>G						HECW1_uc011kbi.1_Silent_p.P453P	p.P453P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	1964	+			453					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1359C>G	CCDS5469.2																																																																																				0.647	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		7	13	0	0	0	0.00308	0	7	13				
HECW1	23072	broad.mit.edu	37	7	43548638	43548638	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:43548638G>T	ENST00000395891.2	+	24	4542	c.3937G>T	c.(3937-3939)Gga>Tga	p.G1313*	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Nonsense_Mutation_p.G1279*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1313	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G1292*(1)|p.G1313*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTTACTATGGACTCTTTGA	0.493																																							uc003tid.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3937-3939)GGA>TGA		NEDD4-like ubiquitin-protein ligase 1							130.0	124.0	126.0					7																	43548638		1902	4119	6021	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43548638G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3937G>T	7.37:g.43548638G>T	ENSP00000379228:p.Gly1313*					HECW1_uc011kbi.1_Nonsense_Mutation_p.G1279*|uc003tig.1_RNA	p.G1313*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			24	4542	+			1313			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.3937G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	46	12.493754	0.99672	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	X	1313;1279;1313	.	ENSP00000265522:G1313X	G	+	1	0	HECW1	43515163	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.835000	0.99442	2.811000	0.96726	0.555000	0.69702	GGA		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		34	133	1	0	4.3181e-19	0.002836	7.38055e-19	34	133				
HECW1	23072	broad.mit.edu	37	7	43581559	43581559	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:43581559G>C	ENST00000395891.2	+	26	4815	c.4210G>C	c.(4210-4212)Gac>Cac	p.D1404H	HECW1_ENST00000453890.1_Missense_Mutation_p.D1370H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1404	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D1383Y(1)|p.D1383H(1)|p.D1404H(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGACATCTTAGACCTCACTTT	0.413																																							uc003tid.1		NA																	3	Substitution - Missense(3)		lung(2)|skin(1)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(4210-4212)GAC>CAC		NEDD4-like ubiquitin-protein ligase 1							188.0	174.0	178.0					7																	43581559		1895	4133	6028	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43581559G>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4210G>C	7.37:g.43581559G>C	ENSP00000379228:p.Asp1404His					HECW1_uc011kbi.1_Missense_Mutation_p.D1370H	p.D1404H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			26	4815	+			1404			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.4210G>C	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.947507|4.947507	0.92593|0.92593	.|.	.|.	ENSG00000002746|ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522|ENST00000429529	T;T|.	0.59364|.	0.27;0.27|.	5.95|5.95	5.95|5.95	0.96441|0.96441	HECT (4);|.	0.042069|.	0.85682|.	D|.	0.000000|.	D|.	0.83908|.	0.5356|.	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.991|.	D;D|.	0.69479|.	0.964;0.948|.	D|.	0.84146|.	0.0420|.	10|.	0.87932|.	D|.	0|.	.|.	20.3747|20.3747	0.98911|0.98911	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1370;1404|.	B4DH42;Q76N89|.	.;HECW1_HUMAN|.	H|Y	1404;1370;1404|127	ENSP00000379228:D1404H;ENSP00000407774:D1370H|.	ENSP00000265522:D1404H|.	D|X	+|+	1|3	0|2	HECW1|HECW1	43548084|43548084	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.841000|0.841000	0.47740|0.47740	9.467000|9.467000	0.97671|0.97671	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAC|TAG		0.413	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		8	114	0	0	0	0.008291	0	8	114				
PURB	5814	broad.mit.edu	37	7	44924058	44924058	+	Missense_Mutation	SNP	C	C	A	rs568851952		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:44924058C>A	ENST00000395699.2	-	1	902	c.890G>T	c.(889-891)gGc>gTc	p.G297V	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	297					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.G297V(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCCGCCGCTGCCCCCACCACG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15749	0.0		0.0	False		,,,				2504	0.0						uc003tme.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GGC>GTC		purine-rich element binding protein B							75.0	80.0	78.0					7																	44924058		2203	4300	6503	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924058C>A		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.890G>T	7.37:g.44924058C>A	ENSP00000379051:p.Gly297Val						p.G297V	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	903	-			297					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.890G>T	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419935	0.42918	.	.	ENSG00000146676	ENST00000395699	T	0.32753	1.44	3.06	3.06	0.35304	.	0.129133	0.28021	U	0.016920	T	0.35595	0.0937	N	0.19112	0.55	0.54753	D	0.999982	D	0.76494	0.999	D	0.71184	0.972	T	0.08269	-1.0730	10	0.33141	T	0.24	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	297	Q96QR8	PURB_HUMAN	V	297	ENSP00000379051:G297V	ENSP00000379051:G297V	G	-	2	0	PURB	44890583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.485000	0.45250	1.998000	0.58463	0.591000	0.81541	GGC		0.597	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		8	127	1	0	5.4927e-09	0.004482	7.63426e-09	8	127				
ADCY1	107	broad.mit.edu	37	7	45753510	45753510	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:45753510G>T	ENST00000297323.7	+	20	3298	c.3276G>T	c.(3274-3276)atG>atT	p.M1092I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1092					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.M1092I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGCCCCATGCCTGGCGTCT	0.637																																							uc003tne.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(3274-3276)ATG>ATT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						61.0	59.0	60.0					7																	45753510		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45753510G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3276G>T	7.37:g.45753510G>T	ENSP00000297323:p.Met1092Ile						p.M1092I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			20	3294	+			1092			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.3276G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654274	0.14580	.	.	ENSG00000164742	ENST00000297323	T	0.78246	-1.16	4.91	-1.51	0.08664	.	0.984107	0.08304	N	0.966396	T	0.55561	0.1928	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	10	0.16420	T	0.52	.	5.6778	0.17759	0.4998:0.143:0.3572:0.0	.	1092	Q08828	ADCY1_HUMAN	I	1092	ENSP00000297323:M1092I	ENSP00000297323:M1092I	M	+	3	0	ADCY1	45720035	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.951000	0.03885	-0.417000	0.07461	0.462000	0.41574	ATG		0.637	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		27	63	1	0	1.13719e-10	0.008361	1.67106e-10	27	63				
PKD1L1	168507	broad.mit.edu	37	7	47944149	47944149	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:47944149C>A	ENST00000289672.2	-	12	1807	c.1757G>T	c.(1756-1758)aGg>aTg	p.R586M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	586	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R586M(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTTCTGCACCCTGATGACATG	0.547																																							uc003tny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(1756-1758)AGG>ATG		polycystin-1L1							101.0	77.0	85.0					7																	47944149		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47944149C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1757G>T	7.37:g.47944149C>A	ENSP00000289672:p.Arg586Met						p.R586M	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			12	1757	-			586			Extracellular (Potential).|PKD 1.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1757G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	8.069	0.769734	0.15983	.	.	ENSG00000158683	ENST00000289672	T	0.68479	-0.33	5.12	-1.3	0.09259	PKD/Chitinase domain (1);PKD domain (1);	1.772590	0.02868	N	0.131138	T	0.56262	0.1973	L	0.27053	0.805	0.09310	N	1	D	0.57899	0.981	P	0.48840	0.592	T	0.45323	-0.9269	10	0.49607	T	0.09	-3.4975	1.1995	0.01882	0.1278:0.3152:0.2499:0.3072	.	586	Q8TDX9	PK1L1_HUMAN	M	586	ENSP00000289672:R586M	ENSP00000289672:R586M	R	-	2	0	PKD1L1	47910674	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	-0.593000	0.05740	-0.489000	0.06716	0.585000	0.79938	AGG		0.547	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	47	1	0	1.06961e-07	0.00308	1.40907e-07	6	47				
SUN3	256979	broad.mit.edu	37	7	48046855	48046855	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:48046855C>A	ENST00000297325.4	-	5	558	c.399G>T	c.(397-399)ctG>ctT	p.L133L	SUN3_ENST00000453192.2_Silent_p.L121L|SUN3_ENST00000412142.1_Silent_p.L33L|SUN3_ENST00000395572.2_Silent_p.L133L	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	133						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.L133L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAATGCCTTCAGGACATCTA	0.438																																							uc003tof.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(397-399)CTG>CTT		Sad1 and UNC84 domain containing 1							134.0	128.0	130.0					7																	48046855		2203	4300	6503	SO:0001819	synonymous_variant	256979					integral to membrane		g.chr7:48046855C>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.399G>T	7.37:g.48046855C>A						SUN3_uc010kyq.2_Silent_p.L33L|SUN3_uc003tog.2_Silent_p.L133L|SUN3_uc011kcf.1_Silent_p.L121L	p.L133L	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			6	496	-			133			Potential.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	c.399G>T	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	6.794	0.515420	0.12944	.	.	ENSG00000164744	ENST00000453071	.	.	.	5.56	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1101	0.20096	0.0:0.7016:0.189:0.1094	.	.	.	.	L	53	.	.	X	-	2	2	SUN3	48013380	1.000000	0.71417	0.995000	0.50966	0.708000	0.40852	0.815000	0.27253	0.607000	0.29982	0.655000	0.94253	TGA		0.438	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		13	69	1	0	1.5842e-08	0.001855	2.18022e-08	13	69				
ABCA13	154664	broad.mit.edu	37	7	48315597	48315597	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:48315597T>A	ENST00000435803.1	+	17	6358	c.6334T>A	c.(6334-6336)Tca>Aca	p.S2112T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2112					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S2112T(1)|p.S2057T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGATTCACCGTCATTGAAGAC	0.338																																							uc003toq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(6334-6336)TCA>ACA		ATP binding cassette, sub-family A (ABC1),							32.0	30.0	31.0					7																	48315597		1802	4072	5874	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315597T>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6334T>A	7.37:g.48315597T>A	ENSP00000411096:p.Ser2112Thr					ABCA13_uc010kyr.2_Missense_Mutation_p.S1615T	p.S2112T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	6359	+			2112					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6334T>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937423	0.34189	.	.	ENSG00000179869	ENST00000435803	T	0.16457	2.34	4.93	-1.88	0.07713	.	0.157695	0.29908	N	0.010893	T	0.10252	0.0251	M	0.62723	1.935	0.23238	N	0.998063	P	0.43477	0.808	B	0.33254	0.16	T	0.18493	-1.0335	9	.	.	.	.	1.3726	0.02214	0.1449:0.134:0.3001:0.421	.	2112	Q86UQ4	ABCAD_HUMAN	T	2112	ENSP00000411096:S2112T	.	S	+	1	0	ABCA13	48286143	0.177000	0.23109	0.000000	0.03702	0.002000	0.02628	0.296000	0.19083	-0.496000	0.06650	0.397000	0.26171	TCA		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	24	0	0	0	0.001855	0	14	24				
FIGNL1	63979	broad.mit.edu	37	7	50514655	50514655	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:50514655T>A	ENST00000419119.1	-	2	1884	c.331A>T	c.(331-333)Aaa>Taa	p.K111*	FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.K111*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.K111*|FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.K111*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	111					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.K111*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTACTCATTTTGAAAACATTA	0.383																																							uc003tpc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(331-333)AAA>TAA		fidgetin-like 1							87.0	90.0	89.0					7																	50514655		2203	4300	6503	SO:0001587	stop_gained	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514655T>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.331A>T	7.37:g.50514655T>A	ENSP00000410811:p.Lys111*					FIGNL1_uc003tpb.2_5'UTR|FIGNL1_uc003tpd.2_Nonsense_Mutation_p.K111*|FIGNL1_uc003tpe.2_Nonsense_Mutation_p.K111*|FIGNL1_uc010kyy.2_Nonsense_Mutation_p.K111*	p.K111*	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	708	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	111					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	ENST00000419119.1	37	c.331A>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	41	8.614859	0.98886	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590	.	.	.	5.22	-0.62	0.11567	.	0.341890	0.30003	N	0.010642	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3132	9.3569	0.38173	0.0:0.0714:0.4796:0.4489	.	.	.	.	X	111	.	ENSP00000349356:K111X	K	-	1	0	FIGNL1	50482149	0.998000	0.40836	0.999000	0.59377	0.986000	0.74619	0.361000	0.20267	0.038000	0.15604	-0.461000	0.05368	AAA		0.383	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		14	110	0	0	0	0.003163	0	14	110				
POM121L12	285877	broad.mit.edu	37	7	53104242	53104242	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:53104242C>A	ENST00000408890.4	+	1	894	c.878C>A	c.(877-879)cCc>cAc	p.P293H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	293								p.P293H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGCTGGCCCCTTTGGCTCC	0.607																																							uc003tpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(877-879)CCC>CAC		POM121 membrane glycoprotein-like 12							42.0	46.0	44.0					7																	53104242		2002	4167	6169	SO:0001583	missense	285877							g.chr7:53104242C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.878C>A	7.37:g.53104242C>A	ENSP00000386133:p.Pro293His						p.P293H	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	894	+			293					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.878C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	9.083	0.999733	0.19121	.	.	ENSG00000221900	ENST00000408890	T	0.28666	1.6	2.09	1.17	0.20885	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.54706	0.759	T	0.11084	-1.0602	9	0.72032	D	0.01	.	6.5049	0.22190	0.0:0.6945:0.3055:0.0	.	293	Q8N7R1	P1L12_HUMAN	H	293	ENSP00000386133:P293H	ENSP00000386133:P293H	P	+	2	0	POM121L12	53071736	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.112000	0.10791	0.433000	0.26313	0.511000	0.50034	CCC		0.607	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		18	56	1	0	5.03518e-11	0.007413	7.47751e-11	18	56				
EGFR	1956	broad.mit.edu	37	7	55224350	55224350	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:55224350G>T	ENST00000275493.2	+	9	1308	c.1131G>T	c.(1129-1131)agG>agT	p.R377S	EGFR_ENST00000454757.2_Missense_Mutation_p.R324S|EGFR_ENST00000344576.2_Missense_Mutation_p.R377S|EGFR_ENST00000442591.1_Missense_Mutation_p.R377S|EGFR_ENST00000342916.3_Missense_Mutation_p.R377S|EGFR_ENST00000420316.2_Missense_Mutation_p.R377S|EGFR_ENST00000455089.1_Missense_Mutation_p.R332S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	377					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R377S(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGGCATTTAGGGGGTGAGTCA	0.398		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1129-1131)AGG>AGT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						82.0	84.0	83.0					7																	55224350		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55224350G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1131G>T	7.37:g.55224350G>T	ENSP00000275493:p.Arg377Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.R377S|EGFR_uc003tqi.2_Missense_Mutation_p.R377S|EGFR_uc003tqj.2_Missense_Mutation_p.R377S|EGFR_uc010kzg.1_Missense_Mutation_p.R332S|EGFR_uc011kco.1_Missense_Mutation_p.R324S|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	p.R377S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		9	1377	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		377			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1131G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	8.561	0.877741	0.17395	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;1.04;-1.2;-1.2;-1.2	5.81	0.0684	0.14369	EGF receptor, L domain (1);	0.908160	0.09792	N	0.755210	T	0.50684	0.1630	N	0.04880	-0.145	0.21861	N	0.9995	B;B;B;B;B	0.28178	0.004;0.0;0.202;0.001;0.001	B;B;B;B;B	0.26693	0.008;0.005;0.072;0.005;0.003	T	0.37430	-0.9706	10	0.13853	T	0.58	.	4.7819	0.13206	0.5688:0.0:0.2672:0.1641	.	332;377;377;377;377	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	S	332;377;247;377;377;377;377;324;171	ENSP00000415559:R332S;ENSP00000342376:R377S;ENSP00000345973:R377S;ENSP00000413843:R377S;ENSP00000275493:R377S;ENSP00000410031:R377S;ENSP00000395243:R324S	ENSP00000275493:R377S	R	+	3	2	EGFR	55191844	0.820000	0.29190	0.224000	0.23877	0.729000	0.41735	0.723000	0.25939	0.069000	0.16605	0.655000	0.94253	AGG		0.398	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		33	70	1	0	1.26612e-14	0.003271	2.0417e-14	33	70				
GUSB	2990	broad.mit.edu	37	7	65429376	65429376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:65429376G>A	ENST00000304895.4	-	11	1853	c.1723C>T	c.(1723-1725)Caa>Taa	p.Q575*	GUSB_ENST00000421103.1_Nonsense_Mutation_p.Q429*|GUSB_ENST00000345660.6_Nonsense_Mutation_p.Q524*	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	575					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.Q575*(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTGCGTTTTTGATCCAGACCC	0.443																																							uc003tun.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1723-1725)CAA>TAA		glucuronidase, beta precursor							84.0	70.0	75.0					7																	65429376		2203	4297	6500	SO:0001587	stop_gained	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65429376G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1723C>T	7.37:g.65429376G>A	ENSP00000302728:p.Gln575*					GUSB_uc011kdt.1_Nonsense_Mutation_p.Q429*	p.Q575*	NM_000181	NP_000172	P08236	BGLR_HUMAN			11	1799	-			575					B4E1F6|E9PCV0|Q549U0|Q96CL9	Nonsense_Mutation	SNP	ENST00000304895.4	37	c.1723C>T	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710056	0.48517	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	.	.	.	5.39	1.37	0.22104	.	0.364416	0.35124	N	0.003433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	9.5261	0.39165	0.0:0.2243:0.3974:0.3783	.	.	.	.	X	575;429;524	.	ENSP00000302728:Q575X	Q	-	1	0	GUSB	65066811	1.000000	0.71417	0.119000	0.21687	0.227000	0.25037	1.842000	0.39250	0.067000	0.16545	-0.188000	0.12872	CAA		0.443	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		12	87	0	0	0	0.000978	0	12	87				
FKBP6	8468	broad.mit.edu	37	7	72743399	72743399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:72743399C>A	ENST00000252037.4	+	3	281	c.212C>A	c.(211-213)cCc>cAc	p.P71H	FKBP6_ENST00000413573.2_Intron|FKBP6_ENST00000431982.2_Missense_Mutation_p.P66H|TRIM50_ENST00000333149.2_5'Flank|TRIM50_ENST00000493498.1_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	71	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.P71H(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATGGACAGACCCTTCGATTCT	0.438																																							uc003tya.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(211-213)CCC>CAC		FK506 binding protein 6 isoform a							203.0	200.0	201.0					7																	72743399		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72743399C>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.212C>A	7.37:g.72743399C>A	ENSP00000252037:p.Pro71His					FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.P66H|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.P71H	NM_003602	NP_003593	O75344	FKBP6_HUMAN			3	344	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	71			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.212C>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203147	0.79127	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000252037	T;T;T	0.43294	0.95;0.95;0.95	4.76	4.76	0.60689	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.65368	-0.6185	10	0.29301	T	0.29	-18.2345	16.4228	0.83772	0.0:1.0:0.0:0.0	.	66;71	O75344-2;O75344	.;FKBP6_HUMAN	H	66;66;71	ENSP00000416277:P66H;ENSP00000402360:P66H;ENSP00000252037:P71H	ENSP00000252037:P71H	P	+	2	0	FKBP6	72381335	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.404000	0.59735	2.220000	0.72140	0.485000	0.47835	CCC		0.438	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		46	172	1	0	6.31075e-24	0.00361	1.12353e-23	46	172				
HGF	3082	broad.mit.edu	37	7	81350104	81350104	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:81350104G>T	ENST00000222390.5	-	10	1454	c.1228C>A	c.(1228-1230)Cta>Ata	p.L410I	HGF_ENST00000457544.2_Missense_Mutation_p.L405I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	410	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.L410I(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAACATGTTAGTCCAGATCTT	0.338																																							uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1228-1230)CTA>ATA		hepatocyte growth factor isoform 1							127.0	117.0	120.0					7																	81350104		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81350104G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1228C>A	7.37:g.81350104G>T	ENSP00000222390:p.Leu410Ile					HGF_uc003uhm.2_Missense_Mutation_p.L405I	p.L410I	NM_000601	NP_000592	P14210	HGF_HUMAN			10	1393	-			410			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1228C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	8.506	0.865371	0.17250	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.62232	0.04;0.04	4.89	4.89	0.63831	Kringle (4);Kringle-like fold (1);	0.070257	0.64402	D	0.000018	T	0.65144	0.2663	L	0.35249	1.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.958;0.976	T	0.58634	-0.7602	10	0.10636	T	0.68	.	12.5026	0.55964	0.0815:0.0:0.9185:0.0	.	405;410	P14210-3;P14210	.;HGF_HUMAN	I	410;405	ENSP00000222390:L410I;ENSP00000391238:L405I	ENSP00000222390:L410I	L	-	1	2	HGF	81188040	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.453000	0.44970	2.252000	0.74401	0.491000	0.48974	CTA		0.338	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		14	35	1	0	3.27435e-08	0.00245	4.40009e-08	14	35				
PCLO	27445	broad.mit.edu	37	7	82585749	82585749	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:82585749C>T	ENST00000333891.9	-	5	4857	c.4520G>A	c.(4519-4521)aGa>aAa	p.R1507K	PCLO_ENST00000423517.2_Missense_Mutation_p.R1507K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R1507K(2)|p.R1438K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAAGGCTCTCTTCTAGTAGT	0.383																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(4519-4521)AGA>AAA		piccolo isoform 1							118.0	108.0	111.0					7																	82585749		1861	4094	5955	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585749C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4520G>A	7.37:g.82585749C>T	ENSP00000334319:p.Arg1507Lys					PCLO_uc003uhv.2_Missense_Mutation_p.R1507K	p.R1507K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4809	-			1438						Missense_Mutation	SNP	ENST00000333891.9	37	c.4520G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.810	0.715474	0.15306	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.26	5.24	4.36	0.52297	.	.	.	.	.	T	0.16727	0.0402	L	0.41236	1.265	0.40594	D	0.981518	B;B	0.11235	0.004;0.004	B;B	0.16722	0.016;0.016	T	0.04579	-1.0941	9	0.87932	D	0	.	13.2349	0.59965	0.0:0.9234:0.0:0.0766	.	1507;1507	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1438;1507;1507	ENSP00000334319:R1507K;ENSP00000388393:R1507K	ENSP00000334319:R1507K	R	-	2	0	PCLO	82423685	0.881000	0.30235	0.292000	0.24919	0.288000	0.27193	1.440000	0.35024	2.455000	0.83008	0.655000	0.94253	AGA		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	101	0	0	0	0.00308	0	6	101				
SEMA3D	223117	broad.mit.edu	37	7	84697561	84697561	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:84697561C>T	ENST00000284136.6	-	5	578	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	SEMA3D_ENST00000444867.1_Missense_Mutation_p.G179S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	179	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G179S(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTCAGTCTGCCAGACTCCAAA	0.333																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(535-537)GGC>AGC		semaphorin 3D precursor							101.0	100.0	101.0					7																	84697561		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84697561C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.535G>A	7.37:g.84697561C>T	ENSP00000284136:p.Gly179Ser					SEMA3D_uc010led.2_Missense_Mutation_p.G179S|SEMA3D_uc010lee.1_Missense_Mutation_p.G179S	p.G179S	NM_152754	NP_689967	O95025	SEM3D_HUMAN			5	575	-			179			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.535G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	35	5.562958	0.96527	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.13538	2.58;2.58	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61744	-0.7000	10	0.87932	D	0	.	19.7307	0.96181	0.0:1.0:0.0:0.0	.	179;179	C9JYT6;O95025	.;SEM3D_HUMAN	S	179	ENSP00000284136:G179S;ENSP00000401366:G179S	ENSP00000284136:G179S	G	-	1	0	SEMA3D	84535497	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.442000	0.80503	2.707000	0.92482	0.655000	0.94253	GGC		0.333	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		9	84	0	0	0	0.004482	0	9	84				
SLC25A40	55972	broad.mit.edu	37	7	87483519	87483519	+	Splice_Site	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:87483519C>A	ENST00000341119.5	-	5	610	c.264G>T	c.(262-264)ttG>ttT	p.L88F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	88					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.L88F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATCACCTTACCAATGTTCCCT	0.318																																							uc003uje.2		NA																	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(262-264)TTG>TTT		mitochondrial carrier family protein							147.0	135.0	139.0					7																	87483519		2203	4300	6503	SO:0001630	splice_region_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87483519C>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.264+1G>T	7.37:g.87483519C>A							p.L88F	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			5	615	-	Esophageal squamous(14;0.00202)		88			Solcar 1.		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	c.264G>T	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660627	0.47572	.	.	ENSG00000075303	ENST00000341119	T	0.80304	-1.36	5.42	4.54	0.55810	Mitochondrial carrier domain (2);	0.751749	0.12911	N	0.428916	T	0.70780	0.3263	N	0.21508	0.67	0.58432	D	0.999992	B	0.18461	0.028	B	0.27170	0.077	T	0.60835	-0.7184	9	.	.	.	-19.3361	13.2503	0.60048	0.0:0.9232:0.0:0.0768	.	88	Q8TBP6	S2540_HUMAN	F	88	ENSP00000344831:L88F	.	L	-	3	2	SLC25A40	87321455	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	3.146000	0.50631	1.292000	0.44672	0.561000	0.74099	TTG		0.318	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843	Missense_Mutation	17	68	1	0	1.67942e-08	0.006122	2.29485e-08	17	68				
C7orf62	219557	broad.mit.edu	37	7	88423497	88423497	+	Nonstop_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:88423497A>T	ENST00000297203.2	-	2	945	c.760T>A	c.(760-762)Tag>Aag	p.*254K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	0								p.*254K(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTCAATCCTAGAAACGTGAA	0.378																																							uc003ujv.2		NA																	1	Nonstop extension(1)		lung(1)		0						c.(760-762)TAG>AAG		hypothetical protein LOC219557							66.0	67.0	66.0					7																	88423497		2203	4300	6503	SO:0001578	stop_lost	219557							g.chr7:88423497A>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.760T>A	7.37:g.88423497A>T						ZNF804B_uc011khi.1_Intron	p.*254K	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	942	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		254						Nonstop_Mutation	SNP	ENST00000297203.2	37	c.760T>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893194	0.33442	.	.	ENSG00000164645	ENST00000297203	.	.	.	6.17	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1278	0.36826	0.9185:0.0:0.0815:0.0	.	.	.	.	K	254	.	.	X	-	1	0	C7orf62	88261433	1.000000	0.71417	0.840000	0.33206	0.391000	0.30476	4.247000	0.58750	1.158000	0.42547	0.533000	0.62120	TAG		0.378	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		11	29	0	0	0	0.008291	0	11	29				
ZNF804B	219578	broad.mit.edu	37	7	88965846	88965846	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:88965846G>T	ENST00000333190.4	+	4	4159	c.3550G>T	c.(3550-3552)Gca>Tca	p.A1184S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1184							metal ion binding (GO:0046872)	p.A1184S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGCCTGCTGCAGGGCCTAC	0.488										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3550-3552)GCA>TCA		zinc finger protein 804B							96.0	82.0	87.0					7																	88965846		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965846G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3550G>T	7.37:g.88965846G>T	ENSP00000329638:p.Ala1184Ser	HNSCC(36;0.09)					p.A1184S	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4088	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1184					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3550G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.738	-0.777377	0.02929	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	4.98	-3.66	0.04489	.	0.660669	0.14468	N	0.317753	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.24721	0.11	B	0.20577	0.03	T	0.44574	-0.9319	10	0.09843	T	0.71	-0.0568	2.9958	0.05997	0.4431:0.2011:0.2616:0.0942	.	1184	A4D1E1	Z804B_HUMAN	S	1184	ENSP00000329638:A1184S	ENSP00000329638:A1184S	A	+	1	0	ZNF804B	88803782	0.001000	0.12720	0.003000	0.11579	0.381000	0.30169	-0.147000	0.10234	-0.666000	0.05310	0.655000	0.94253	GCA		0.488	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		23	78	1	0	5.26018e-13	0.001882	8.14138e-13	23	78				
ZNF804B	219578	broad.mit.edu	37	7	88966076	88966076	+	Silent	SNP	C	C	T	rs372135464		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:88966076C>T	ENST00000333190.4	+	4	4389	c.3780C>T	c.(3778-3780)ccC>ccT	p.P1260P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1260							metal ion binding (GO:0046872)	p.P1260P(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCACACCCCACTTTCTTAG	0.483										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3778-3780)CCC>CCT		zinc finger protein 804B							229.0	191.0	204.0					7																	88966076		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88966076C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3780C>T	7.37:g.88966076C>T		HNSCC(36;0.09)					p.P1260P	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4318	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1260					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.3780C>T	CCDS5613.1																																																																																				0.483	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		13	193	0	0	0	0.001855	0	13	193				
CDK14	5218	broad.mit.edu	37	7	90377056	90377056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:90377056G>T	ENST00000380050.3	+	4	561	c.430G>T	c.(430-432)Gga>Tga	p.G144*	CDK14_ENST00000265741.3_Nonsense_Mutation_p.G126*|CDK14_ENST00000406263.1_Nonsense_Mutation_p.G98*|CDK14_ENST00000436577.2_Intron			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.G144*(1)|p.G126*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACTAGGGGAAGGATCTTATGC	0.348																																					GBM(83;1228 1256 8311 16577 31299)	GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(3)|ovary(1)	4						c.(430-432)GGA>TGA		PFTAIRE protein kinase 1							128.0	132.0	130.0					7																	90377056		2203	4298	6501	SO:0001587	stop_gained	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90377056G>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.430G>T	7.37:g.90377056G>T	ENSP00000369390:p.Gly144*					CDK14_uc003ukt.1_Nonsense_Mutation_p.G98*|CDK14_uc003ukv.1_Nonsense_Mutation_p.G98*|CDK14_uc003uku.1_Nonsense_Mutation_p.G98*|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Nonsense_Mutation_p.G126*|CDK14_uc010les.1_Nonsense_Mutation_p.G98*|CDK14_uc011khl.1_Intron	p.G144*	NM_012395	NP_036527	O94921	CDK14_HUMAN			4	652	+			144			ATP (By similarity).|Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Nonsense_Mutation	SNP	ENST00000380050.3	37	c.430G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.404358	0.96051	.	.	ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000265741;ENST00000406263	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3106	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	98;98;98;98;144;126;98	.	ENSP00000265741:G126X	G	+	1	0	CDK14	90214992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.419000	0.97397	2.807000	0.96579	0.591000	0.81541	GGA		0.348	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		15	232	1	0	4.96729e-08	0.008871	6.61732e-08	15	232				
FZD1	8321	broad.mit.edu	37	7	90895699	90895699	+	Missense_Mutation	SNP	G	G	T	rs368484423		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:90895699G>T	ENST00000287934.2	+	1	1917	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	502					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G502C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTGTTTATCGGCACGTCCTT	0.602																																							uc003ula.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1504-1506)GGC>TGC		frizzled 1 precursor		G	CYS/GLY	0,4406		0,0,2203	173.0	153.0	159.0		1504	4.8	1.0	7		159	1,8599		0,1,4299	no	missense	FZD1	NM_003505.1	159	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	502/648	90895699	1,13005	2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895699G>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1504G>T	7.37:g.90895699G>T	ENSP00000287934:p.Gly502Cys						p.G502C	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1917	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		502			Helical; Name=5; (Potential).		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1504G>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333897	0.81801	0.0	1.16E-4	ENSG00000157240	ENST00000287934	D	0.92348	-3.02	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.97567	0.9203	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98994	1.0809	10	0.87932	D	0	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	502	Q9UP38	FZD1_HUMAN	C	502	ENSP00000287934:G502C	ENSP00000287934:G502C	G	+	1	0	FZD1	90733635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.491000	0.84063	0.655000	0.94253	GGC		0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		12	169	1	0	1.08611e-07	0.000978	1.42471e-07	12	169				
AKAP9	10142	broad.mit.edu	37	7	91672051	91672051	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:91672051G>A	ENST00000359028.2	+	21	5389	c.5164G>A	c.(5164-5166)Gaa>Aaa	p.E1722K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1722K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1710K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1722					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E1722K(1)|p.E1710K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAAAACCTGAAGATGTGCC	0.318			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5128-5130)GAA>AAA		A-kinase anchor protein 9 isoform 2							110.0	121.0	117.0					7																	91672051		2203	4299	6502	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91672051G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5164G>A	7.37:g.91672051G>A	ENSP00000351922:p.Glu1722Lys					AKAP9_uc003ulf.2_Missense_Mutation_p.E1710K|AKAP9_uc003uli.2_Missense_Mutation_p.E1335K	p.E1710K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5353	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1722					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5128G>A		.	.	.	.	.	.	.	.	.	.	G	12.03	1.814860	0.32053	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03301	3.98;3.98;3.98	5.46	4.53	0.55603	.	0.000000	0.43110	D	0.000612	T	0.07999	0.0200	M	0.67953	2.075	0.30567	N	0.76394	B;B;B	0.30584	0.189;0.096;0.286	B;B;B	0.36289	0.11;0.073;0.221	T	0.01001	-1.1485	10	0.45353	T	0.12	.	15.2454	0.73502	0.0:0.1393:0.8607:0.0	.	1722;1710;1710	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	K	1710;1722;1722;1722	ENSP00000348573:E1710K;ENSP00000351922:E1722K;ENSP00000350813:E1722K	ENSP00000348573:E1710K	E	+	1	0	AKAP9	91509987	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.563000	0.60823	2.724000	0.93272	0.650000	0.86243	GAA		0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		16	169	0	0	0	0.007413	0	16	169				
RBM48	84060	broad.mit.edu	37	7	92164096	92164096	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92164096A>G	ENST00000265732.5	+	4	870	c.829A>G	c.(829-831)Agg>Ggg	p.R277G	RBM48_ENST00000481551.1_Missense_Mutation_p.R277G	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	277						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R277G(1)									ATTTATGCCTAGGACAACACA	0.418																																							uc003ulz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(829-831)AGG>GGG		hypothetical protein LOC84060							58.0	56.0	57.0					7																	92164096		1910	4114	6024	SO:0001583	missense	84060						nucleotide binding	g.chr7:92164096A>G	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.829A>G	7.37:g.92164096A>G	ENSP00000265732:p.Arg277Gly					C7orf64_uc003uma.2_Missense_Mutation_p.R277G	p.R277G	NM_032120	NP_115496	Q5RL73	CG064_HUMAN			4	870	+			277					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.829A>G	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878766	0.72294	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.37	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	M	0.79475	2.455	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80148	-0.1503	9	0.87932	D	0	0.0497	12.3319	0.55043	0.5929:0.407:0.0:0.0	.	277;277	B7Z2K5;Q5RL73	.;CG064_HUMAN	G	277	.	ENSP00000265732:R277G	R	+	1	2	C7orf64	92002032	0.937000	0.31787	1.000000	0.80357	0.998000	0.95712	0.857000	0.27831	1.051000	0.40369	0.482000	0.46254	AGG		0.418	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		8	40	0	0	0	0.00308	0	8	40				
SAMD9	54809	broad.mit.edu	37	7	92731987	92731987	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92731987C>T	ENST00000379958.2	-	3	3693	c.3424G>A	c.(3424-3426)Ggg>Agg	p.G1142R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1142						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.G1142W(1)|p.G1142R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAATGTTCCCGTTTCCTCCG	0.368																																							uc003umf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3424-3426)GGG>AGG		sterile alpha motif domain containing 9							198.0	198.0	198.0					7																	92731987		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731987C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3424G>A	7.37:g.92731987C>T	ENSP00000369292:p.Gly1142Arg					SAMD9_uc003umg.2_Missense_Mutation_p.G1142R	p.G1142R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3680	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1142					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3424G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.318012	0.00018	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21191	2.02;2.83	4.79	-1.81	0.07882	.	0.637201	0.15137	N	0.278519	T	0.05273	0.0140	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	10	0.07482	T	0.82	0.9058	10.9531	0.47341	0.0:0.4673:0.0:0.5327	.	1142	Q5K651	SAMD9_HUMAN	R	1142	ENSP00000369292:G1142R;ENSP00000414529:G1142R	ENSP00000369292:G1142R	G	-	1	0	SAMD9	92569923	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.770000	0.04705	-0.506000	0.06558	-3.011000	0.00075	GGG		0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		16	226	0	0	0	0.00499	0	16	226				
SAMD9	54809	broad.mit.edu	37	7	92733814	92733814	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92733814T>A	ENST00000379958.2	-	3	1866	c.1597A>T	c.(1597-1599)Ata>Tta	p.I533L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	533						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.I533L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGCATTATGTCTTCATGT	0.408																																							uc003umf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1597-1599)ATA>TTA		sterile alpha motif domain containing 9							88.0	91.0	90.0					7																	92733814		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92733814T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1597A>T	7.37:g.92733814T>A	ENSP00000369292:p.Ile533Leu					SAMD9_uc003umg.2_Missense_Mutation_p.I533L	p.I533L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1853	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		533					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1597A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588594	0.28357	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13307	2.6;2.6	3.84	0.21	0.15231	.	0.289920	0.27031	U	0.021279	T	0.13841	0.0335	M	0.66939	2.045	0.23113	N	0.998279	B	0.11235	0.004	B	0.13407	0.009	T	0.20974	-1.0259	10	0.72032	D	0.01	.	7.1269	0.25477	0.0:0.3928:0.0:0.6072	.	533	Q5K651	SAMD9_HUMAN	L	533	ENSP00000369292:I533L;ENSP00000414529:I533L	ENSP00000369292:I533L	I	-	1	0	SAMD9	92571750	0.000000	0.05858	0.962000	0.40283	0.975000	0.68041	-0.842000	0.04354	0.181000	0.19994	0.491000	0.48974	ATA		0.408	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		8	136	0	0	0	0.00308	0	8	136				
SAMD9	54809	broad.mit.edu	37	7	92734749	92734749	+	Missense_Mutation	SNP	C	C	A	rs148603551		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92734749C>A	ENST00000379958.2	-	3	931	c.662G>T	c.(661-663)cGa>cTa	p.R221L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R221L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAGCAAATCGGAAAACCTC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		20349	0.001		0.0	False		,,,				2504	0.0						uc003umf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(661-663)CGA>CTA		sterile alpha motif domain containing 9							140.0	133.0	136.0					7																	92734749		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734749C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.662G>T	7.37:g.92734749C>A	ENSP00000369292:p.Arg221Leu					SAMD9_uc003umg.2_Missense_Mutation_p.R221L	p.R221L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	918	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		221					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.662G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510849	0.64522	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.16196	2.36;2.36	4.44	0.387	0.16259	.	0.103153	0.33610	N	0.004723	T	0.19287	0.0463	L	0.57536	1.79	0.21064	N	0.999795	P	0.46656	0.882	P	0.46026	0.501	T	0.09122	-1.0689	10	0.87932	D	0	.	8.0131	0.30365	0.0:0.6266:0.0:0.3734	.	221	Q5K651	SAMD9_HUMAN	L	221	ENSP00000369292:R221L;ENSP00000414529:R221L	ENSP00000369292:R221L	R	-	2	0	SAMD9	92572685	0.000000	0.05858	0.129000	0.21949	0.987000	0.75469	0.326000	0.19646	-0.038000	0.13624	0.603000	0.83216	CGA		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		49	140	1	0	1.30409e-13	0.00361	2.04929e-13	49	140				
PPP1R9A	55607	broad.mit.edu	37	7	94750039	94750039	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:94750039G>T	ENST00000433881.1	+	4	2076	c.1544G>T	c.(1543-1545)gGt>gTt	p.G515V	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G515V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G515V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G515V|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.G515V			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	515	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.G515V(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GATGGTCTTGGTATAAGTATT	0.418										HNSCC(28;0.073)																													uc003unp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1543-1545)GGT>GTT		protein phosphatase 1, regulatory (inhibitor)							129.0	132.0	131.0					7																	94750039		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94750039G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1544G>T	7.37:g.94750039G>T	ENSP00000398870:p.Gly515Val	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.G515V|PPP1R9A_uc011kif.1_Missense_Mutation_p.G515V|PPP1R9A_uc003unq.2_Missense_Mutation_p.G515V|PPP1R9A_uc011kig.1_Missense_Mutation_p.G515V	p.G515V	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	1826	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		515			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1544G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396498	0.83011	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	4.46	4.46	0.54185	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	H	0.98818	4.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98768	1.0727	10	0.87932	D	0	.	18.4372	0.90650	0.0:0.0:1.0:0.0	.	515;515;515;515;515	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	V	515	ENSP00000405514:G515V;ENSP00000344524:G515V;ENSP00000411342:G515V;ENSP00000398870:G515V;ENSP00000289495:G515V;ENSP00000402893:G515V	ENSP00000289495:G515V	G	+	2	0	PPP1R9A	94587975	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.587000	0.98229	2.773000	0.95371	0.655000	0.94253	GGT		0.418	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		36	172	1	0	4.62619e-21	0.004289	8.0229e-21	36	172				
ASB4	51666	broad.mit.edu	37	7	95125234	95125234	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:95125234G>T	ENST00000325885.5	+	2	423	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S	ASB4_ENST00000428113.1_Missense_Mutation_p.A118S|ASB4_ENST00000257621.4_3'UTR	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	118					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.A118S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGTGAAATGGCCAATGTGGA	0.468																																							uc011kij.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(352-354)GCC>TCC		ankyrin repeat and SOCS box-containing protein 4							205.0	148.0	168.0					7																	95125234		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95125234G>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.352G>T	7.37:g.95125234G>T	ENSP00000321388:p.Ala118Ser					ASB4_uc003unx.2_Missense_Mutation_p.A118S	p.A118S	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	352	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		118			ANK 2.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.352G>T	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183965	0.38609	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.52057	0.68;0.68	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.052488	0.85682	D	0.000000	T	0.27027	0.0662	N	0.05031	-0.125	0.58432	D	0.999991	B;B	0.32526	0.1;0.374	B;B	0.34536	0.088;0.185	T	0.14699	-1.0463	10	0.14656	T	0.56	-27.3099	13.7248	0.62752	0.0739:0.0:0.9261:0.0	.	118;118	Q9Y574;Q14D68	ASB4_HUMAN;.	S	118	ENSP00000321388:A118S;ENSP00000397070:A118S	ENSP00000321388:A118S	A	+	1	0	ASB4	94963170	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	4.600000	0.61083	2.680000	0.91292	0.655000	0.94253	GCC		0.468	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		17	64	1	0	6.49762e-13	0.006122	1.00164e-12	17	64				
ACN9	57001	broad.mit.edu	37	7	96747046	96747046	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:96747046G>A	ENST00000360382.4	+	1	12	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	ACN9_ENST00000432641.2_Missense_Mutation_p.R4Q					ACN9 homolog (S. cerevisiae)									p.R4Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ATGCCGGGGCGGCACGTTTCT	0.647																																							uc003uoo.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(10-12)CGG>CAG		ACN9 homolog precursor							64.0	66.0	65.0					7																	96747046		2203	4300	6503	SO:0001583	missense	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96747046G>A	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.11G>A	7.37:g.96747046G>A	ENSP00000353548:p.Arg4Gln						p.R4Q	NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN			1	1142	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		4						Missense_Mutation	SNP	ENST00000360382.4	37	c.11G>A		.	.	.	.	.	.	.	.	.	.	G	10.79	1.450412	0.26074	.	.	ENSG00000196636	ENST00000432641;ENST00000360382	.	.	.	5.17	-10.3	0.00346	.	3.611410	0.01400	N	0.013545	T	0.19685	0.0473	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.14980	-1.0453	9	0.12430	T	0.62	8.7695	3.7776	0.08667	0.2103:0.4216:0.1007:0.2674	.	4	Q9NRP4	ACN9_HUMAN	Q	4	.	ENSP00000353548:R4Q	R	+	2	0	ACN9	96584982	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.536000	0.00438	-3.537000	0.00145	-0.733000	0.03571	CGG		0.647	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3	NM_020186		30	76	0	0	0	0.004289	0	30	76				
PTCD1	26024	broad.mit.edu	37	7	99022694	99022694	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:99022694G>C	ENST00000292478.4	-	6	1711	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.I536M|PTCD1_ENST00000555673.1_Missense_Mutation_p.I536M	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	487					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.I487I(1)|p.I487M(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGGGTCCTGATGTCGGGCT	0.647																																							uc003uqh.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(1459-1461)ATC>ATG		pentatricopeptide repeat domain 1							55.0	58.0	57.0					7																	99022694		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99022694G>C	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1461C>G	7.37:g.99022694G>C	ENSP00000292478:p.Ile487Met					PTCD1_uc011kiw.1_Missense_Mutation_p.I536M	p.I487M	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1592	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		487					Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1461C>G	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508765	0.27036	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.69685	-0.42;-0.38;-0.38	5.72	2.96	0.34315	.	0.047937	0.85682	D	0.000000	T	0.78162	0.4240	M	0.83012	2.62	0.53688	D	0.999975	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.973	T	0.75836	-0.3177	10	0.52906	T	0.07	-33.2321	4.8755	0.13655	0.2955:0.0:0.5602:0.1442	.	536;487	G3V325;O75127	.;PTCD1_HUMAN	M	487;269;536;536	ENSP00000292478:I487M;ENSP00000450995:I536M;ENSP00000400168:I536M	ENSP00000400168:I536M	I	-	3	3	ATP5J2-PTCD1;PTCD1	98860630	1.000000	0.71417	0.999000	0.59377	0.066000	0.16364	1.110000	0.31147	0.778000	0.33520	-0.291000	0.09656	ATC		0.647	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		4	95	0	0	0	0.000602	0	4	95				
CYP3A43	64816	broad.mit.edu	37	7	99447310	99447310	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:99447310C>T	ENST00000354829.2	+	7	766	c.663C>T	c.(661-663)ctC>ctT	p.L221L	CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000342499.4_Missense_Mutation_p.L84F|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L221L|CYP3A43_ENST00000222382.5_Silent_p.L221L|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	221			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.L221L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CCTTTTTACTCTTAATATGTA	0.289																																							uc003urx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(661-663)CTC>CTT		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						63.0	63.0	63.0					7																	99447310		2202	4300	6502	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99447310C>T	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.663C>T	7.37:g.99447310C>T						CYP3A43_uc003ury.1_Silent_p.L221L|CYP3A43_uc003urz.1_Silent_p.L221L|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.L84F	p.L221L	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			7	766	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		221		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	c.663C>T	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514987	0.27123	.	.	ENSG00000021461	ENST00000342499;ENST00000379654	T	0.76186	-1.0	3.14	-3.53	0.04667	.	0.919846	0.09147	N	0.842119	T	0.47710	0.1460	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.28106	-1.0054	9	0.15066	T	0.55	.	3.2202	0.06712	0.3807:0.3313:0.0:0.288	.	84	F8W6L8	.	F	84;115	ENSP00000345351:L84F	ENSP00000345351:L84F	L	+	1	0	CYP3A43	99285246	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	-0.460000	0.06720	-0.620000	0.05641	0.195000	0.17529	CTT		0.289	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			12	36	0	0	0	0.001368	0	12	36				
CYP3A43	64816	broad.mit.edu	37	7	99463537	99463537	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:99463537G>T	ENST00000354829.2	+	13	1528	c.1425G>T	c.(1423-1425)ctG>ctT	p.L475L	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000415413.1_Silent_p.L264L|CYP3A43_ENST00000342499.4_Nonstop_Mutation_p.*281L|CYP3A43_ENST00000417625.1_Silent_p.L365L|CYP3A43_ENST00000312017.5_Nonstop_Mutation_p.*421L|CYP3A43_ENST00000222382.5_Silent_p.L476L|CYP3A43_ENST00000444905.1_Nonstop_Mutation_p.*168L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	475			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.L476L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	AGATCCCACTGAAATTAGACA	0.343																																							uc003urx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1423-1425)CTG>CTT		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						96.0	103.0	101.0					7																	99463537		2114	4299	6413	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99463537G>T	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1425G>T	7.37:g.99463537G>T						CYP3A43_uc003ury.1_Silent_p.L476L|CYP3A43_uc003urz.1_Nonstop_Mutation_p.*421L|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Silent_p.L365L|CYP3A43_uc003usb.1_Nonstop_Mutation_p.*281L	p.L475L	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			13	1528	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		475		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	c.1425G>T	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	7.281	0.609018	0.14066	.	.	ENSG00000021461	ENST00000342499;ENST00000444905;ENST00000312017	.	.	.	3.17	-2.23	0.06930	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8144	0.08809	0.4154:0.0:0.4143:0.1702	.	.	.	.	L	281;168;421	.	.	X	+	2	2	CYP3A43	99301473	0.000000	0.05858	0.001000	0.08648	0.375000	0.29983	-0.145000	0.10265	-0.544000	0.06232	0.205000	0.17691	TGA		0.343	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			4	35	1	0	0.00024832	0.009096	0.000283269	4	35				
NYAP1	222950	broad.mit.edu	37	7	100085977	100085977	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100085977G>A	ENST00000300179.2	+	4	792	c.633G>A	c.(631-633)caG>caA	p.Q211Q	NYAP1_ENST00000454988.1_Silent_p.Q154Q|NYAP1_ENST00000423930.1_Silent_p.Q211Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	211					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.Q211Q(1)									TGGGTGCCCAGGAAGAGCCTG	0.672																																							uc003uvd.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(631-633)CAG>CAA		hypothetical protein FLJ37538							33.0	39.0	37.0					7																	100085977		2203	4297	6500	SO:0001819	synonymous_variant	222950							g.chr7:100085977G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.633G>A	7.37:g.100085977G>A						C7orf51_uc003uve.1_5'UTR	p.Q211Q	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	792	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		211					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.633G>A	CCDS5696.1																																																																																				0.672	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		6	95	0	0	0	0.001168	0	6	95				
MUC17	140453	broad.mit.edu	37	7	100676223	100676223	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100676223G>A	ENST00000306151.4	+	3	1590	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	509	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G509E(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAAGGAAGCACTCCA	0.502																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1525-1527)GGA>GAA		mucin 17 precursor							333.0	336.0	335.0					7																	100676223		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676223G>A	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.1526G>A	7.37:g.100676223G>A	ENSP00000302716:p.Gly509Glu					MUC17_uc010lho.1_RNA	p.G509E	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1579	+	Lung NSC(181;0.136)|all_lung(186;0.182)		509			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|6.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1526G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543929	0.04053	.	.	ENSG00000169876	ENST00000306151	T	0.03553	3.89	1.34	-2.56	0.06268	.	.	.	.	.	T	0.01695	0.0054	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.08055	0.003	T	0.47289	-0.9129	9	0.02654	T	1	.	0.5949	0.00734	0.1657:0.1983:0.2384:0.3977	.	509	Q685J3	MUC17_HUMAN	E	509	ENSP00000302716:G509E	ENSP00000302716:G509E	G	+	2	0	MUC17	100462943	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.022000	0.03611	-0.776000	0.04578	0.501000	0.49751	GGA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		46	730	0	0	0	0.00361	0	46	730				
MUC17	140453	broad.mit.edu	37	7	100679089	100679089	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100679089C>A	ENST00000306151.4	+	3	4456	c.4392C>A	c.(4390-4392)aaC>aaA	p.N1464K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1464	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.N1464K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCAACACGCCGGTGG	0.473																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4390-4392)AAC>AAA		mucin 17 precursor							184.0	200.0	195.0					7																	100679089		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679089C>A	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.4392C>A	7.37:g.100679089C>A	ENSP00000302716:p.Asn1464Lys					MUC17_uc010lho.1_RNA	p.N1464K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4445	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1464			Extracellular (Potential).|Ser-rich.|22.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4392C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.284	-0.609564	0.03690	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	0.726	0.726	0.18248	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48681	-0.9014	9	0.07175	T	0.84	.	4.8663	0.13609	0.0:1.0:0.0:0.0	.	1464	Q685J3	MUC17_HUMAN	K	1464	ENSP00000302716:N1464K	ENSP00000302716:N1464K	N	+	3	2	MUC17	100465809	.	.	0.001000	0.08648	0.001000	0.01503	.	.	0.716000	0.32124	0.134000	0.15878	AAC		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		32	473	1	0	5.8336e-16	0.003271	9.60829e-16	32	473				
MUC17	140453	broad.mit.edu	37	7	100679784	100679784	+	Missense_Mutation	SNP	C	C	A	rs71525815		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100679784C>A	ENST00000306151.4	+	3	5151	c.5087C>A	c.(5086-5088)aCt>aAt	p.T1696N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1696	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1696N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATAACTGTCAGAACA	0.473																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5086-5088)ACT>AAT		mucin 17 precursor							176.0	194.0	188.0					7																	100679784		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679784C>A	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.5087C>A	7.37:g.100679784C>A	ENSP00000302716:p.Thr1696Asn					MUC17_uc010lho.1_RNA	p.T1696N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5140	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1696			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|26.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5087C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.863196	0.00552	.	.	ENSG00000169876	ENST00000306151	T	0.02121	4.44	0.331	-0.661	0.11417	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48068	-0.9067	8	0.22706	T	0.39	.	.	.	.	.	1696	Q685J3	MUC17_HUMAN	N	1696	ENSP00000302716:T1696N	ENSP00000302716:T1696N	T	+	2	0	MUC17	100466504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.544000	0.06077	-2.102000	0.00845	-1.381000	0.01174	ACT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		119	235	1	0	9.55279e-52	0.00361	1.82071e-51	119	235				
MUC17	140453	broad.mit.edu	37	7	100680500	100680500	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100680500A>T	ENST00000306151.4	+	3	5867	c.5803A>T	c.(5803-5805)Acc>Tcc	p.T1935S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1935	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1935S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTGTCAGCACCACAACAGT	0.488																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5803-5805)ACC>TCC		mucin 17 precursor							242.0	239.0	240.0					7																	100680500		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680500A>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.5803A>T	7.37:g.100680500A>T	ENSP00000302716:p.Thr1935Ser					MUC17_uc010lho.1_RNA	p.T1935S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5856	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1935			Extracellular (Potential).|30.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5803A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.274	-0.148414	0.06627	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.932	-0.492	0.12041	.	.	.	.	.	T	0.01976	0.0062	L	0.29908	0.895	0.09310	N	1	B	0.22346	0.068	B	0.15052	0.012	T	0.49457	-0.8938	9	0.12766	T	0.61	.	5.1947	0.15230	0.7027:0.2973:0.0:0.0	.	1935	Q685J3	MUC17_HUMAN	S	1935	ENSP00000302716:T1935S	ENSP00000302716:T1935S	T	+	1	0	MUC17	100467220	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.432000	0.21461	-0.110000	0.12022	-1.674000	0.00743	ACC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		32	454	0	0	0	0.009535	0	32	454				
MUC17	140453	broad.mit.edu	37	7	100683216	100683216	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100683216C>T	ENST00000306151.4	+	3	8583	c.8519C>T	c.(8518-8520)cCt>cTt	p.P2840L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2840	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2840L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCACACCTGTGACCACT	0.473																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8518-8520)CCT>CTT		mucin 17 precursor							251.0	259.0	256.0					7																	100683216		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683216C>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.8519C>T	7.37:g.100683216C>T	ENSP00000302716:p.Pro2840Leu					MUC17_uc010lho.1_RNA	p.P2840L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8572	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2840			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|46.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8519C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422090	0.11928	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	1.13	-2.25	0.06888	.	.	.	.	.	T	0.03220	0.0094	N	0.03608	-0.345	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.32981	-0.9886	9	0.24483	T	0.36	.	3.6957	0.08364	0.0:0.4712:0.2053:0.3235	.	2840	Q685J3	MUC17_HUMAN	L	2840	ENSP00000302716:P2840L	ENSP00000302716:P2840L	P	+	2	0	MUC17	100469936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.180000	0.16860	-1.075000	0.03129	-1.381000	0.01174	CCT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		130	480	0	0	0	0.00361	0	130	480				
MUC17	140453	broad.mit.edu	37	7	100683456	100683456	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:100683456T>A	ENST00000306151.4	+	3	8823	c.8759T>A	c.(8758-8760)aTc>aAc	p.I2920N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2920	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.I2920N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATGCCAATCTCAACTCCT	0.478																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8758-8760)ATC>AAC		mucin 17 precursor							236.0	239.0	238.0					7																	100683456		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683456T>A	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.8759T>A	7.37:g.100683456T>A	ENSP00000302716:p.Ile2920Asn					MUC17_uc010lho.1_RNA	p.I2920N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8812	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2920			Extracellular (Potential).|47.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8759T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.613708	0.00835	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.06	-2.12	0.07165	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.41448	-0.9508	9	0.18276	T	0.48	.	4.1823	0.10381	0.23:0.5134:0.0:0.2566	.	2920	Q685J3	MUC17_HUMAN	N	2920	ENSP00000302716:I2920N	ENSP00000302716:I2920N	I	+	2	0	MUC17	100470176	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.954000	0.00048	-3.197000	0.00218	-3.215000	0.00053	ATC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		29	524	0	0	0	0.00632	0	29	524				
RELN	5649	broad.mit.edu	37	7	103205894	103205894	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:103205894T>A	ENST00000428762.1	-	34	5200	c.5041A>T	c.(5041-5043)Agt>Tgt	p.S1681C	RELN_ENST00000343529.5_Missense_Mutation_p.S1681C|RELN_ENST00000424685.2_Missense_Mutation_p.S1681C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1681					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S1681C(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGTACACTGTGGGAGTTG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5041-5043)AGT>TGT		reelin isoform a							110.0	96.0	101.0					7																	103205894		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205894T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5041A>T	7.37:g.103205894T>A	ENSP00000392423:p.Ser1681Cys					RELN_uc010liz.2_Missense_Mutation_p.S1681C	p.S1681C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5201	-			1681					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5041A>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748016	0.69533	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.86	6.17	-4.1	0.03940	.	0.186295	0.64402	D	0.000018	T	0.24586	0.0596	L	0.52573	1.65	0.24730	N	0.99309	P;P	0.45672	0.488;0.864	B;B	0.43701	0.428;0.299	T	0.37291	-0.9712	10	0.66056	D	0.02	.	15.5519	0.76158	0.0:0.5173:0.0:0.4827	.	1681;1681	P78509-2;P78509	.;RELN_HUMAN	C	1681	ENSP00000392423:S1681C;ENSP00000345694:S1681C;ENSP00000388446:S1681C	ENSP00000345694:S1681C	S	-	1	0	RELN	102993130	0.976000	0.34144	0.322000	0.25334	0.940000	0.58332	0.571000	0.23669	-0.570000	0.06022	-0.290000	0.09829	AGT		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	27	0	0	0	0.006214	0	10	27				
COG5	10466	broad.mit.edu	37	7	107053032	107053032	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:107053032T>C	ENST00000347053.3	-	7	727	c.677A>G	c.(676-678)gAa>gGa	p.E226G	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.E226G|COG5_ENST00000393603.2_Missense_Mutation_p.E226G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	226					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.E226G(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TAGATCATTTTCTATCACTTC	0.318																																							uc003ved.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.(676-678)GAA>GGA		component of oligomeric golgi complex 5 isoform							55.0	55.0	55.0					7																	107053032		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107053032T>C	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.677A>G	7.37:g.107053032T>C	ENSP00000334703:p.Glu226Gly					COG5_uc003vec.2_Missense_Mutation_p.E226G|COG5_uc003vee.2_Missense_Mutation_p.E226G	p.E226G	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			7	1202	-			226					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.677A>G	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912787	0.72983	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.29397	1.57;1.57;1.57	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.80982	2.52	0.58432	D	0.999999	D;D	0.67145	0.958;0.996	P;D	0.64237	0.681;0.923	T	0.59669	-0.7411	10	0.49607	T	0.09	-15.9133	14.0681	0.64844	0.0:0.0:0.0:1.0	.	226;226	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	226	ENSP00000334703:E226G;ENSP00000297135:E226G;ENSP00000377228:E226G	ENSP00000297135:E226G	E	-	2	0	COG5	106840268	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.394000	0.79862	1.780000	0.52325	0.459000	0.35465	GAA		0.318	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			17	57	0	0	0	0.004007	0	17	57				
SLC26A3	1811	broad.mit.edu	37	7	107432339	107432339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:107432339C>A	ENST00000340010.5	-	4	502	c.318G>T	c.(316-318)ttG>ttT	p.L106F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L71F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	106					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.L106F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGGATGCATACAACCCATAGA	0.458																																							uc003ver.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(316-318)TTG>TTT		solute carrier family 26, member 3							120.0	101.0	108.0					7																	107432339		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432339C>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.318G>T	7.37:g.107432339C>A	ENSP00000345873:p.Leu106Phe					SLC26A3_uc003ves.2_Missense_Mutation_p.L71F	p.L106F	NM_000111	NP_000102	P40879	S26A3_HUMAN			4	529	-			106			Helical; (Potential).			Missense_Mutation	SNP	ENST00000340010.5	37	c.318G>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130194	0.37630	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.96200	-3.94;-3.94;-3.94	5.56	-2.16	0.07080	Sulphate anion transporter, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.97498	0.9181	H	0.96996	3.92	0.37234	D	0.9058	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93771	0.7075	10	0.87932	D	0	.	2.3522	0.04286	0.2353:0.4402:0.0863:0.2382	.	71;106	G5E9U3;P40879	.;S26A3_HUMAN	F	71;106;106	ENSP00000415817:L71F;ENSP00000345873:L106F;ENSP00000395955:L106F	ENSP00000345873:L106F	L	-	3	2	SLC26A3	107219575	0.081000	0.21417	0.365000	0.25901	0.065000	0.16274	-0.678000	0.05209	-0.246000	0.09611	0.467000	0.42956	TTG		0.458	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		25	87	1	0	7.38237e-10	0.00632	1.05855e-09	25	87				
LAMB1	3912	broad.mit.edu	37	7	107605093	107605093	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:107605093G>T	ENST00000222399.6	-	14	1832	c.1602C>A	c.(1600-1602)caC>caA	p.H534Q	LAMB1_ENST00000393560.1_Missense_Mutation_p.H534Q|LAMB1_ENST00000393561.1_Missense_Mutation_p.H558Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	534	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.H534Q(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GTCCAATCATGTGAGGCCGGC	0.562																																							uc003vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(1600-1602)CAC>CAA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						124.0	101.0	109.0					7																	107605093		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107605093G>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1602C>A	7.37:g.107605093G>T	ENSP00000222399:p.His534Gln					LAMB1_uc003vev.2_Missense_Mutation_p.H558Q|LAMB1_uc003vex.2_Missense_Mutation_p.H534Q|LAMB1_uc010ljn.1_Missense_Mutation_p.H620Q	p.H534Q	NM_002291	NP_002282	P07942	LAMB1_HUMAN			14	1937	-			534			Laminin EGF-like 5; truncated.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1602C>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437137	0.62955	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.61158	0.13;0.13;1.39	4.64	2.5	0.30297	EGF-like, laminin (3);	.	.	.	.	T	0.71443	0.3340	M	0.84511	2.7	0.49687	D	0.999812	P;P;P	0.52692	0.955;0.934;0.91	P;P;P	0.59171	0.548;0.853;0.576	T	0.73139	-0.4077	9	0.59425	D	0.04	.	8.9029	0.35505	0.297:0.0:0.703:0.0	.	534;534;558	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	Q	558;534;534	ENSP00000377191:H558Q;ENSP00000222399:H534Q;ENSP00000377190:H534Q	ENSP00000222399:H534Q	H	-	3	2	LAMB1	107392329	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	2.234000	0.43035	0.944000	0.37579	0.563000	0.77884	CAC		0.562	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		19	58	1	0	1.56452e-12	0.007413	2.39738e-12	19	58				
PPP1R3A	5506	broad.mit.edu	37	7	113519998	113519998	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:113519998G>C	ENST00000284601.3	-	4	1217	c.1149C>G	c.(1147-1149)tcC>tcG	p.S383S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	383					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S383S(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCCCTTTACGGAGCTTTCTG	0.398																																							uc010ljy.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1147-1149)TCC>TCG		protein phosphatase 1, regulatory (inhibitor)							169.0	170.0	169.0					7																	113519998		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519998G>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1149C>G	7.37:g.113519998G>C							p.S383S	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1180	-			383					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1149C>G	CCDS5759.1																																																																																				0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		61	179	0	0	0	0.00361	0	61	179				
KCND2	3751	broad.mit.edu	37	7	119915076	119915076	+	Silent	SNP	C	C	T	rs138118192		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:119915076C>T	ENST00000331113.4	+	1	1355	c.390C>T	c.(388-390)ggC>ggT	p.G130G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	130					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.G130G(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AAATCATCGGCGACTGCTGTT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19179	0.0		0.0	False		,,,				2504	0.0						uc003vjj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(388-390)GGC>GGT		potassium voltage-gated channel, Shal-related							118.0	121.0	120.0					7																	119915076		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915076C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.390C>T	7.37:g.119915076C>T							p.G130G	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1355	+	all_neural(327;0.117)		130			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.390C>T	CCDS5776.1																																																																																				0.587	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		22	208	0	0	0	0.002299	0	22	208				
CPED1	79974	broad.mit.edu	37	7	120911417	120911417	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:120911417C>A	ENST00000310396.5	+	22	3268	c.2801C>A	c.(2800-2802)aCa>aAa	p.T934K		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	934						endoplasmic reticulum (GO:0005783)		p.T934K(1)									GTAGTTGACACATTCACTATA	0.363																																							uc003vjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2800-2802)ACA>AAA		hypothetical protein LOC79974 isoform 1							173.0	173.0	173.0					7																	120911417		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120911417C>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2801C>A	7.37:g.120911417C>A	ENSP00000309772:p.Thr934Lys						p.T934K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			22	3248	+	all_neural(327;0.117)		934					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2801C>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808620	0.70797	.	.	ENSG00000106034	ENST00000310396	T	0.18657	2.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48703	-0.9012	10	0.87932	D	0	.	20.3396	0.98756	0.0:1.0:0.0:0.0	.	934	A4D0V7	CG058_HUMAN	K	934	ENSP00000309772:T934K	ENSP00000309772:T934K	T	+	2	0	C7orf58	120698653	1.000000	0.71417	0.936000	0.37596	0.142000	0.21351	7.001000	0.76297	2.812000	0.96745	0.555000	0.69702	ACA		0.363	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		32	105	1	0	3.90053e-15	0.002445	6.34299e-15	32	105				
PTPRZ1	5803	broad.mit.edu	37	7	121608163	121608163	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:121608163A>C	ENST00000393386.2	+	3	694	c.283A>C	c.(283-285)Att>Ctt	p.I95L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I95L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	95	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I95L(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAACACATTCATTCATAACAC	0.303																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(283-285)ATT>CTT		protein tyrosine phosphatase, receptor-type,							76.0	82.0	80.0					7																	121608163		2203	4295	6498	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121608163A>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.283A>C	7.37:g.121608163A>C	ENSP00000377047:p.Ile95Leu					PTPRZ1_uc003vjz.2_Missense_Mutation_p.I95L	p.I95L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			3	678	+			95			Extracellular (Potential).|Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.283A>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.496147	0.64186	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.69306	-0.39;-0.39	5.88	5.88	0.94601	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	T	0.72309	0.3444	L	0.38692	1.165	0.35116	D	0.76658	P;D	0.53312	0.921;0.959	P;P	0.58520	0.84;0.84	T	0.80425	-0.1388	10	0.66056	D	0.02	.	16.2997	0.82804	1.0:0.0:0.0:0.0	.	95;95	C9JFM0;P23471	.;PTPRZ_HUMAN	L	95	ENSP00000377047:I95L;ENSP00000410000:I95L	ENSP00000377047:I95L	I	+	1	0	PTPRZ1	121395399	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.503000	0.73699	2.250000	0.74265	0.528000	0.53228	ATT		0.303	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		14	111	0	0	0	0.004007	0	14	111				
SPAM1	6677	broad.mit.edu	37	7	123594379	123594379	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:123594379T>G	ENST00000439500.1	+	4	1368	c.755T>G	c.(754-756)tTg>tGg	p.L252W	SPAM1_ENST00000223028.7_Missense_Mutation_p.L252W|SPAM1_ENST00000460182.1_Missense_Mutation_p.L252W|SPAM1_ENST00000402183.2_Missense_Mutation_p.L252W|SPAM1_ENST00000340011.5_Missense_Mutation_p.L252W	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	252					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.L252W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCAGCTGGTTGTGGAATGAA	0.413																																							uc003vld.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)	4						c.(754-756)TTG>TGG		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						127.0	122.0	124.0					7																	123594379		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594379T>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.755T>G	7.37:g.123594379T>G	ENSP00000402123:p.Leu252Trp					SPAM1_uc003vle.2_Missense_Mutation_p.L252W|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.L252W|SPAM1_uc010lku.2_Missense_Mutation_p.L252W	p.L252W	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	1157	+			252					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.755T>G	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263605	0.80358	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.152029	0.46145	D	0.000309	T	0.81113	0.4755	H	0.95611	3.695	0.49213	D	0.999761	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86707	0.1933	9	.	.	.	-25.9272	15.7966	0.78416	0.0:0.0:0.0:1.0	.	252;252	Q8TC30;P38567	.;HYALP_HUMAN	W	252	ENSP00000386028:L252W;ENSP00000417934:L252W;ENSP00000345849:L252W;ENSP00000402123:L252W;ENSP00000223028:L252W	.	L	+	2	0	SPAM1	123381615	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	8.036000	0.88901	2.315000	0.78130	0.533000	0.62120	TTG		0.413	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			5	141	0	0	0	0.000602	0	5	141				
GRM8	2918	broad.mit.edu	37	7	126173818	126173818	+	Missense_Mutation	SNP	G	G	T	rs569817460		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:126173818G>T	ENST00000339582.2	-	9	2426	c.1618C>A	c.(1618-1620)Cgc>Agc	p.R540S	GRM8_ENST00000444921.2_Missense_Mutation_p.R540S|GRM8_ENST00000358373.3_Missense_Mutation_p.R540S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	540					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R540S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTTCACAGCGTTCACAGTGC	0.557										HNSCC(24;0.065)																													uc003vlr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1618-1620)CGC>AGC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						121.0	113.0	116.0					7																	126173818		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173818G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1618C>A	7.37:g.126173818G>T	ENSP00000344173:p.Arg540Ser	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R540S|GRM8_uc010lkz.1_RNA	p.R540S	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	1929	-		Prostate(267;0.186)	540			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1618C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042455	0.55003	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89270	-2.49;-2.49;-2.49	5.8	5.8	0.92144	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	N	0.17723	0.515	0.80722	D	1	P;B	0.47545	0.897;0.065	P;B	0.44477	0.451;0.069	D	0.83714	0.0189	10	0.32370	T	0.25	.	19.0428	0.93008	0.0:0.0:1.0:0.0	.	540;540	O00222-2;O00222	.;GRM8_HUMAN	S	540	ENSP00000344173:R540S;ENSP00000409790:R540S;ENSP00000351142:R540S	ENSP00000344173:R540S	R	-	1	0	GRM8	125961054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.994000	0.88315	2.758000	0.94735	0.643000	0.83706	CGC		0.557	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			35	116	1	0	2.20474e-14	0.003755	3.53676e-14	35	116				
ZNF800	168850	broad.mit.edu	37	7	127013541	127013541	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:127013541G>C	ENST00000393313.1	-	5	2440	c.1849C>G	c.(1849-1851)Ctt>Gtt	p.L617V	ZNF800_ENST00000393312.1_Missense_Mutation_p.L617V|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000265827.3_Missense_Mutation_p.L617V			Q2TB10	ZN800_HUMAN	zinc finger protein 800	617					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.L617V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CATCTGTGAAGAGAAAAGTTT	0.358																																							uc003vlx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1849-1851)CTT>GTT		zinc finger protein 800							163.0	158.0	159.0					7																	127013541		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013541G>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1849C>G	7.37:g.127013541G>C	ENSP00000376989:p.Leu617Val					ZNF800_uc003vlw.1_Missense_Mutation_p.L520V|ZNF800_uc003vly.1_Missense_Mutation_p.L617V|ZNF800_uc010lla.2_Missense_Mutation_p.L617V	p.L617V	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	2112	-			617					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1849C>G	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.083962	0.36758	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.01647	4.71;4.71;4.71	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.01189	0.0039	N	0.08118	0	0.35574	D	0.805733	P;P	0.46784	0.734;0.884	B;B	0.35655	0.096;0.207	T	0.63611	-0.6598	9	0.38643	T	0.18	-3.8898	14.1979	0.65684	0.0731:0.0:0.9269:0.0	.	520;617	B7Z4V7;Q2TB10	.;ZN800_HUMAN	V	617	ENSP00000376989:L617V;ENSP00000265827:L617V;ENSP00000376988:L617V	ENSP00000265827:L617V	L	-	1	0	ZNF800	126800777	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.385000	0.79763	2.692000	0.91855	0.655000	0.94253	CTT		0.358	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		14	82	0	0	0	0.00245	0	14	82				
FSCN3	29999	broad.mit.edu	37	7	127238614	127238614	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:127238614C>T	ENST00000265825.5	+	4	1305	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	FSCN3_ENST00000420086.2_Silent_p.P228P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	362						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P362P(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCATTGCACCCAACAGCCTGC	0.567																																							uc003vmd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1084-1086)CCC>CCT		fascin 3							116.0	108.0	111.0					7																	127238614		2203	4300	6503	SO:0001819	synonymous_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127238614C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1086C>T	7.37:g.127238614C>T						FSCN3_uc011koh.1_Silent_p.P228P|FSCN3_uc010llc.1_Silent_p.P362P	p.P362P	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			4	1305	+			362					A4D0Z2|A6NLL7|B2RA62|B4DU68	Silent	SNP	ENST00000265825.5	37	c.1086C>T	CCDS34746.1																																																																																				0.567	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		35	126	0	0	0	0.004878	0	35	126				
CCDC136	64753	broad.mit.edu	37	7	128446346	128446346	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:128446346A>T	ENST00000297788.4	+	8	1512	c.1145A>T	c.(1144-1146)cAg>cTg	p.Q382L	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	382						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.Q382L(2)|p.Q498L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACTAGCCAGGATGAGCAG	0.463																																							uc003vnv.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1144-1146)CAG>CTG		coiled-coil domain containing 136							29.0	28.0	28.0					7																	128446346		1917	4133	6050	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128446346A>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1145A>T	7.37:g.128446346A>T	ENSP00000297788:p.Gln382Leu					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.Q198L|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_5'UTR	p.Q382L	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			8	1512	+			382					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1145A>T	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.558602|4.558602	0.86231|0.86231	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524|ENST00000494552	T|.	0.50813|.	0.73|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.56097|.	D|.	0.000032|.	T|T	0.66107|0.66107	0.2756|0.2756	M|M	0.64997|0.64997	1.995|1.995	0.42300|0.42300	D|D	0.992176|0.992176	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.66148|0.66148	-0.5996|-0.5996	10|5	0.48119|.	T|.	0.1|.	-26.4284|-26.4284	12.373|12.373	0.55265|0.55265	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	382|.	Q96JN2|.	CC136_HUMAN|.	L|W	382|259	ENSP00000297788:Q382L|.	ENSP00000297788:Q382L|.	Q|R	+|+	2|1	0|2	CCDC136|CCDC136	128233582|128233582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	4.247000|4.247000	0.58750|0.58750	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.463	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		6	9	0	0	0	0.001168	0	6	9				
FLNC	2318	broad.mit.edu	37	7	128493676	128493676	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:128493676G>T	ENST00000325888.8	+	38	6622		c.e38+1		RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma						cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.?(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACGTGCCTGGTAAGGCTCTG	0.607																																							uc003vnz.3		NA																	1	Unknown(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.e38+1		gamma filamin isoform a							77.0	82.0	80.0					7																	128493676		2053	4206	6259	SO:0001630	splice_region_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493676G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6361+1G>T	7.37:g.128493676G>T						FLNC_uc003voa.3_Splice_Site_p.G2088_splice	p.G2121_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN			38	6570	+								B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Splice_Site	SNP	ENST00000325888.8	37	c.6361_splice	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518430	0.85495	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2046	0.93724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNC	128280912	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.835000	0.99442	2.534000	0.85438	0.555000	0.69702	.		0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		Intron	19	45	1	0	2.39187e-15	0.008871	3.902e-15	19	45				
FLNC	2318	broad.mit.edu	37	7	128496863	128496863	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:128496863C>T	ENST00000325888.8	+	45	7710	c.7449C>T	c.(7447-7449)aaC>aaT	p.N2483N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.N2450N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2483	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.N2483N(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAACGGTGCCCACA	0.597																																							uc003vnz.3		NA																	2	Substitution - coding silent(2)	p.N2483N(1)	lung(1)|breast(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7447-7449)AAC>AAT		gamma filamin isoform a							97.0	101.0	100.0					7																	128496863		2198	4296	6494	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496863C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7449C>T	7.37:g.128496863C>T						FLNC_uc003voa.3_Silent_p.N2450N	p.N2483N	NM_001458	NP_001449	Q14315	FLNC_HUMAN			45	7658	+			2483			Filamin 22.|Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.7449C>T	CCDS43644.1																																																																																				0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			9	85	0	0	0	0.006214	0	9	85				
LOC407835	407835	broad.mit.edu	37	7	128767070	128767070	+	RNA	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:128767070G>A	ENST00000471777.1	+	0	0																											GATTCCCGAGGACATCCTGGG	0.587																																							uc003voo.2		NA																	0					0						c.(499-501)GAC>AAC		SubName: Full=cDNA FLJ35806 fis, clone TESTI2005987, highly similar to Dual specificity mitogen-activated protein kinase kinase 2 (EC 2.7.12.2); SubName: Full=Mitogen-activated protein kinase kinase 2, isoform CRA_d;																																						407835							g.chr7:128767070G>A																													7.37:g.128767070G>A							p.D167N	NR_002144						1	746	+									Missense_Mutation	SNP	ENST00000471777.1	37	c.499G>A																																																																																					0.587	RP11-286H14.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350981.1			4	14	0	0	0	0.009096	0	4	14				
SSMEM1	136263	broad.mit.edu	37	7	129847928	129847928	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:129847928G>T	ENST00000297819.3	+	1	229	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	TMEM209_ENST00000473456.1_5'Flank|TMEM209_ENST00000462753.1_5'Flank|TMEM209_ENST00000336804.8_5'Flank|TMEM209_ENST00000397622.2_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	60						integral component of membrane (GO:0016021)		p.V60F(1)|p.V60I(1)									TAGGGCTTCTGTCTGGGTAGG	0.333																																							uc003vpp.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(178-180)GTC>TTC		hypothetical protein LOC136263							181.0	181.0	181.0					7																	129847928		2203	4300	6503	SO:0001583	missense	136263					integral to membrane		g.chr7:129847928G>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.178G>T	7.37:g.129847928G>T	ENSP00000297819:p.Val60Phe					TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank	p.V60F	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN			1	225	+	Melanoma(18;0.0435)		60						Missense_Mutation	SNP	ENST00000297819.3	37	c.178G>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235950	0.58886	.	.	ENSG00000165120	ENST00000297819	T	0.52526	0.66	5.84	-3.2	0.05156	.	1.142040	0.06464	N	0.729938	T	0.38134	0.1029	L	0.57536	1.79	0.32216	N	0.57593	B	0.24368	0.102	B	0.24155	0.051	T	0.44937	-0.9295	10	0.51188	T	0.08	0.1647	2.2569	0.04057	0.155:0.3331:0.3043:0.2076	.	60	Q8WWF3	CG045_HUMAN	F	60	ENSP00000297819:V60F	ENSP00000297819:V60F	V	+	1	0	C7orf45	129635164	0.729000	0.28090	0.925000	0.36789	0.925000	0.55904	-0.599000	0.05700	-0.432000	0.07297	0.655000	0.94253	GTC		0.333	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		30	90	1	0	5.60225e-13	0.009535	8.66211e-13	30	90				
CPA2	1358	broad.mit.edu	37	7	129906792	129906792	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:129906792G>T	ENST00000222481.4	+	1	126	c.71G>T	c.(70-72)gGa>gTa	p.G24V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	24					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G22V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACATTTGTGGGGTAAGTTATG	0.403																																							uc003vpq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)GGA>GTA		carboxypeptidase A2 (pancreatic) precursor							236.0	215.0	222.0					7																	129906792		2203	4300	6503	SO:0001630	splice_region_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129906792G>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.71+1G>T	7.37:g.129906792G>T						CPA2_uc011kpc.1_Missense_Mutation_p.G24V	p.G24V	NM_001869	NP_001860	P48052	CBPA2_HUMAN			1	90	+	Melanoma(18;0.0435)		24					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.71G>T	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957427	0.73902	.	.	ENSG00000158516	ENST00000222481	T	0.55588	0.51	6.01	6.01	0.97437	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (1);	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.90542	3.125	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.73708	0.981;0.958	T	0.81739	-0.0795	10	0.87932	D	0	.	17.2944	0.87166	0.0:0.0:1.0:0.0	.	22;24	B4DDX9;P48052	.;CBPA2_HUMAN	V	24	ENSP00000222481:G24V	ENSP00000222481:G24V	G	+	2	0	CPA2	129694028	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.318000	0.65829	2.869000	0.98440	0.558000	0.71614	GGA		0.403	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869	Missense_Mutation	10	189	1	0	4.68919e-08	0.008291	6.2631e-08	10	189				
CPA1	1357	broad.mit.edu	37	7	130025014	130025014	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:130025014C>T	ENST00000011292.3	+	8	965	c.815C>T	c.(814-816)tCg>tTg	p.S272L	CPA1_ENST00000484324.1_Missense_Mutation_p.S184L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	272					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S272L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AACCCCTGCTCGGAGACTTAC	0.547																																							uc003vpx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)TCG>TTG		carboxypeptidase A1 precursor							95.0	83.0	87.0					7																	130025014		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130025014C>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.815C>T	7.37:g.130025014C>T	ENSP00000011292:p.Ser272Leu					CPA1_uc003vpw.2_Missense_Mutation_p.S106L	p.S272L	NM_001868	NP_001859	P15085	CBPA1_HUMAN			8	887	+	Melanoma(18;0.0435)		272					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.815C>T	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570267	0.86542	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.12039	2.72;2.72;2.72	5.63	5.63	0.86233	Peptidase M14, carboxypeptidase A (2);	0.332943	0.32884	N	0.005523	T	0.52948	0.1766	H	0.96015	3.755	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.977;0.985	T	0.67719	-0.5598	10	0.62326	D	0.03	.	18.6739	0.91521	0.0:1.0:0.0:0.0	.	272;184	P15085;C9JUF9	CBPA1_HUMAN;.	L	272;184;184	ENSP00000011292:S272L;ENSP00000419408:S184L;ENSP00000419497:S184L	ENSP00000011292:S272L	S	+	2	0	CPA1	129812250	1.000000	0.71417	0.820000	0.32676	0.498000	0.33706	7.487000	0.81328	2.660000	0.90430	0.561000	0.74099	TCG		0.547	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		4	66	0	0	0	0.000602	0	4	66				
PLXNA4	91584	broad.mit.edu	37	7	131865426	131865426	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:131865426C>A	ENST00000359827.3	-	19	4520	c.3558G>T	c.(3556-3558)ggG>ggT	p.G1186G	PLXNA4_ENST00000321063.4_Silent_p.G1186G			Q9HCM2	PLXA4_HUMAN	plexin A4	1186	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G1186G(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACGGCTTCTCCCCAACCAGCA	0.602																																							uc003vra.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3556-3558)GGG>GGT		plexin A4 isoform 1							69.0	73.0	72.0					7																	131865426		2111	4243	6354	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131865426C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3558G>T	7.37:g.131865426C>A							p.G1186G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			19	3787	-			1186			IPT/TIG 4.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3558G>T	CCDS43646.1																																																																																				0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		14	35	1	0	5.01169e-05	0.00499	5.88712e-05	14	35				
AKR1B15	441282	broad.mit.edu	37	7	134260654	134260654	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:134260654C>A	ENST00000457545.2	+	8	978	c.718C>A	c.(718-720)Ccc>Acc	p.P240T	AKR1B15_ENST00000423958.1_Missense_Mutation_p.P212T	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	240							oxidoreductase activity (GO:0016491)	p.P258T(1)|p.P240T(1)|p.P212T(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GGCCTACAGCCCCCTGGGCTC	0.478																																							uc011kpr.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(718-720)CCC>ACC		aldo-keto reductase family 1, member B15							51.0	43.0	46.0					7																	134260654		2201	4295	6496	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134260654C>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.718C>A	7.37:g.134260654C>A	ENSP00000389289:p.Pro240Thr					AKR1B15_uc011kps.1_Missense_Mutation_p.P212T	p.P240T	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			8	1017	+			240			NADP (By similarity).		C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.718C>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709370	0.68615	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.49720	0.77;0.77	3.87	3.87	0.44632	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.73814	0.3635	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80989	-0.1136	9	0.62326	D	0.03	.	14.5989	0.68427	0.0:1.0:0.0:0.0	.	212;240	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	T	240;212	ENSP00000389289:P240T;ENSP00000397009:P212T	ENSP00000397009:P212T	P	+	1	0	AKR1B15	133911194	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.054000	0.76649	1.981000	0.57761	0.537000	0.68136	CCC		0.478	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			8	77	1	0	0.000151284	0.001855	0.000174646	8	77				
CNOT4	4850	broad.mit.edu	37	7	135106985	135106985	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:135106985T>A	ENST00000315544.5	-	3	571	c.292A>T	c.(292-294)Aaa>Taa	p.K98*	CNOT4_ENST00000541284.1_Nonsense_Mutation_p.K98*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.K98*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.K98*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.K98*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.K98*|CNOT4_ENST00000428680.2_Nonsense_Mutation_p.K98*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.K98*	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	98					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K98*(4)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCAAATGTTTGCGATTTTCT	0.388																																					Ovarian(51;766 1130 5502 35047 50875)	Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(292-294)AAA>TAA		CCR4-NOT transcription complex, subunit 4							179.0	166.0	170.0					7																	135106985		1851	4085	5936	SO:0001587	stop_gained	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106985T>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.292A>T	7.37:g.135106985T>A	ENSP00000326731:p.Lys98*					CNOT4_uc003vss.2_Nonsense_Mutation_p.K98*|CNOT4_uc011kpz.1_Nonsense_Mutation_p.K98*|CNOT4_uc003vst.2_Nonsense_Mutation_p.K98*|CNOT4_uc003vsu.1_Nonsense_Mutation_p.K98*|CNOT4_uc011kpy.1_Nonsense_Mutation_p.K98*	p.K98*	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			3	599	-			98			Potential.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Nonsense_Mutation	SNP	ENST00000315544.5	37	c.292A>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	37	6.459126	0.97585	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	.	.	.	5.97	5.97	0.96955	.	0.041893	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5486	16.4608	0.84044	0.0:0.0:0.0:1.0	.	.	.	.	X	98	.	ENSP00000262563:K98X	K	-	1	0	CNOT4	134757525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	AAA		0.388	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		33	99	0	0	0	0.004289	0	33	99				
SLC13A4	26266	broad.mit.edu	37	7	135392916	135392916	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:135392916A>T	ENST00000354042.4	-	3	1000	c.311T>A	c.(310-312)cTg>cAg	p.L104Q		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	104					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.L104Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GCGCTTATGCAGGTTCCACTT	0.597																																							uc003vta.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CTG>CAG		solute carrier family 13 (sodium/sulfate							95.0	96.0	96.0					7																	135392916		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135392916A>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.311T>A	7.37:g.135392916A>T	ENSP00000297282:p.Leu104Gln					SLC13A4_uc003vtb.2_Missense_Mutation_p.L104Q|SLC13A4_uc003vtc.1_Missense_Mutation_p.L104Q	p.L104Q	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			3	1000	-			104					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.311T>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.013248	0.93346	.	.	ENSG00000164707	ENST00000354042	T	0.13778	2.56	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.48978	0.1530	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63651	-0.6589	10	0.87932	D	0	.	12.823	0.57704	1.0:0.0:0.0:0.0	.	104	Q9UKG4	S13A4_HUMAN	Q	104	ENSP00000297282:L104Q	ENSP00000297282:L104Q	L	-	2	0	SLC13A4	135043456	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.013000	0.93629	2.132000	0.65825	0.459000	0.35465	CTG		0.597	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		11	155	0	0	0	0.000978	0	11	155				
DGKI	9162	broad.mit.edu	37	7	137075975	137075975	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:137075975A>G	ENST00000288490.5	-	34	3189	c.3189T>C	c.(3187-3189)acT>acC	p.T1063T	DGKI_ENST00000446122.1_Silent_p.T1045T|DGKI_ENST00000424189.2_Silent_p.T1076T|DGKI_ENST00000453654.2_Silent_p.T732T|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1063					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.T1063T(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTCAAACAGCAGTTTCCAGGT	0.532																																							uc003vtt.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(3187-3189)ACT>ACC		diacylglycerol kinase, iota							142.0	124.0	130.0					7																	137075975		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137075975A>G	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3189T>C	7.37:g.137075975A>G						DGKI_uc003vtu.2_Silent_p.T732T	p.T1063T	NM_004717	NP_004708	O75912	DGKI_HUMAN			34	3190	-			1063					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.3189T>C	CCDS5845.1																																																																																				0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		28	105	0	0	0	0.002836	0	28	105				
CREB3L2	64764	broad.mit.edu	37	7	137590467	137590467	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:137590467C>A	ENST00000330387.6	-	6	1247	c.896G>T	c.(895-897)cGg>cTg	p.R299L	CREB3L2_ENST00000456390.1_Missense_Mutation_p.R299L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	299	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.R299L(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATCTTCCTCCGAATTTTCTT	0.517			T	FUS	fibromyxoid sarcoma																																		uc003vtw.2		NA		Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	1	Substitution - Missense(1)		lung(1)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(895-897)CGG>CTG		cAMP responsive element binding protein 3-like							182.0	179.0	180.0					7																	137590467		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137590467C>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.896G>T	7.37:g.137590467C>A	ENSP00000329140:p.Arg299Leu					CREB3L2_uc003vtx.1_Missense_Mutation_p.R299L|CREB3L2_uc003vtv.2_Missense_Mutation_p.R236L	p.R299L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			6	1291	-			299			Cytoplasmic (Potential).|Basic motif.		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.896G>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400013	0.96030	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	D;D	0.83506	-1.73;-1.73	5.65	5.65	0.86999	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.92925	0.7749	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93564	0.6898	10	0.72032	D	0.01	-6.5882	19.7272	0.96168	0.0:1.0:0.0:0.0	.	299;299	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	L	299	ENSP00000329140:R299L;ENSP00000403550:R299L	ENSP00000329140:R299L	R	-	2	0	CREB3L2	137241007	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.676000	0.84012	2.646000	0.89796	0.655000	0.94253	CGG		0.517	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		13	268	1	0	5.50884e-06	0.001368	6.74373e-06	13	268				
UBN2	254048	broad.mit.edu	37	7	138944042	138944042	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:138944042G>T	ENST00000473989.3	+	5	831	c.831G>T	c.(829-831)gaG>gaT	p.E277D	UBN2_ENST00000288561.8_Missense_Mutation_p.E194D	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	277	Lys-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E194D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATGATATTGAGATGAAGAAGC	0.378																																							uc011kqr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(829-831)GAG>GAT		ubinuclein 2							116.0	121.0	119.0					7																	138944042		1828	4086	5914	SO:0001583	missense	254048							g.chr7:138944042G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.831G>T	7.37:g.138944042G>T	ENSP00000418648:p.Glu277Asp					UBN2_uc003vuv.2_5'UTR	p.E277D	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			5	831	+			277			Lys-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.831G>T	CCDS43655.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.099134|2.099134	0.37048|0.37048	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561|ENST00000483726	T;T;T|.	0.25085|.	1.82;1.82;1.82|.	5.34|5.34	2.58|2.58	0.30949|0.30949	.|.	0.585904|.	0.19951|.	N|.	0.102425|.	T|T	0.29783|0.29783	0.0744|0.0744	N|N	0.22421|0.22421	0.69|0.69	0.27526|0.27526	N|N	0.951237|0.951237	B|.	0.29716|.	0.255|.	B|.	0.24974|.	0.057|.	T|T	0.20806|0.20806	-1.0264|-1.0264	10|5	0.17369|.	T|.	0.5|.	-4.134|-4.134	7.9978|7.9978	0.30277|0.30277	0.3156:0.0:0.6844:0.0|0.3156:0.0:0.6844:0.0	.|.	277|.	Q6ZU65|.	UBN2_HUMAN|.	D|I	100;277;194|46	ENSP00000417849:E100D;ENSP00000418648:E277D;ENSP00000288561:E194D|.	ENSP00000288561:E194D|.	E|R	+|+	3|2	2|0	UBN2|UBN2	138594582|138594582	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.983000|0.983000	0.72400|0.72400	0.407000|0.407000	0.21049|0.21049	0.942000|0.942000	0.37525|0.37525	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.378	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		27	58	1	0	5.6714e-07	0.002096	7.2783e-07	27	58				
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A	rs121913351		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> E (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> V (in LNCR). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCCAAATGATCCAGATCCAAT	0.378	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3	G466V(NCIH1666_LUNG)|G466V(CAL12T_LUNG)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	21	Substitution - Missense(21)	p.G466V(12)|p.G466E(5)|p.G466A(3)|p.G466R(2)	lung(10)|skin(7)|ovary(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1396-1398)GGA>GTA		B-Raf	Sorafenib(DB00398)						173.0	148.0	156.0					7																	140481411		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481411C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1397G>T	7.37:g.140481411C>A	ENSP00000288602:p.Gly466Val						p.G466V	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1458	-	Melanoma(164;0.00956)		466		G -> V (in LNCR).|G -> A (in melanoma).|G -> E (in melanoma).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1397G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.783205|4.783205	0.90282|0.90282	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99931	.|-8.17	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.100477	.|0.64402	.|D	.|0.000002	D|D	0.99953|0.99953	0.9980|0.9980	H|H	0.99225|0.99225	4.475|4.475	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.69142	.|0.962	D|D	0.96300|0.96300	0.9220|0.9220	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|466	.|P15056	.|BRAF_HUMAN	Y|V	74|466	.|ENSP00000288602:G466V	.|ENSP00000288602:G466V	D|G	-|-	1|2	0|0	BRAF|BRAF	140127880|140127880	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.983000|0.983000	0.72400|0.72400	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAT|GGA		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	110	1	0	2.42023e-17	0.003271	4.06895e-17	30	110				
TAS2R38	5726	broad.mit.edu	37	7	141672757	141672757	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:141672757C>T	ENST00000547270.1	-	1	816	c.733G>A	c.(733-735)Gcc>Acc	p.A245T		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	245					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A245T(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GACTTGAGGGCTTTAATGTGG	0.502																																							uc003vwx.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(733-735)GCC>ACC		taste receptor, type 2, member 38							59.0	60.0	59.0					7																	141672757		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672757C>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.733G>A	7.37:g.141672757C>T	ENSP00000448219:p.Ala245Thr						p.A245T	NM_176817	NP_789787	P59533	T2R38_HUMAN			1	817	-	Melanoma(164;0.0171)		245			Cytoplasmic (Potential).		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.733G>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788084	0.70337	.	.	ENSG00000257138	ENST00000547270	T	0.01422	4.91	5.21	5.21	0.72293	.	0.075638	0.51477	D	0.000087	T	0.09247	0.0228	M	0.84326	2.69	0.09310	N	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.01424	-1.1358	10	0.87932	D	0	.	14.1316	0.65257	0.0:1.0:0.0:0.0	.	245	P59533	T2R38_HUMAN	T	245	ENSP00000448219:A245T	ENSP00000331291:A245T	A	-	1	0	TAS2R38	141319226	0.941000	0.31946	0.237000	0.24090	0.721000	0.41392	4.272000	0.58908	2.713000	0.92767	0.655000	0.94253	GCC		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		23	63	0	0	0	0.001882	0	23	63				
TRBV2	28620	broad.mit.edu	37	7	142000998	142000998	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142000998G>T	ENST00000455382.2	+	0	164									T cell receptor beta variable 2																		CCAGCCATCAGGTCACACAGA	0.438																																							uc011kro.1		NA																	0					NA						c.(88-90)CAG>CAT		SubName: Full=V_segment translation product; Flags: Fragment;							41.0	40.0	40.0					7																	142000998		1943	4143	6086			0							g.chr7:142000998G>T	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142000998G>T							p.Q30H							2	135	+									Missense_Mutation	SNP	ENST00000455382.2	37	c.90G>T																																																																																					0.438	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		5	29	1	0	8.12818e-05	0.001984	9.43997e-05	5	29				
PRSS1	5644	broad.mit.edu	37	7	142460405	142460405	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142460405A>T	ENST00000311737.7	+	4	584	c.578A>T	c.(577-579)aAg>aTg	p.K193M	PRSS1_ENST00000486171.1_Missense_Mutation_p.K207M	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.K193M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GAGGGAGGCAAGGATTCATGT	0.532																																							uc003wak.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(577-579)AAG>ATG		protease, serine, 1 preproprotein							174.0	168.0	170.0					7																	142460405		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460405A>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.578A>T	7.37:g.142460405A>T	ENSP00000308720:p.Lys193Met					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.K133M	p.K193M	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	595	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	193			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.578A>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916300	0.33815	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.90197	-2.63;-2.63	3.32	2.09	0.27110	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.72894	2.215	0.47407	D	0.999416	D;D	0.71674	0.998;0.994	D;D	0.71656	0.974;0.955	D	0.91518	0.5232	10	0.87932	D	0	.	8.0528	0.30587	0.8924:0.0:0.1076:0.0	.	207;193	E7EQ64;P07477	.;TRY1_HUMAN	M	207;193;183	ENSP00000417854:K207M;ENSP00000308720:K193M	ENSP00000308720:K193M	K	+	2	0	PRSS1	142139979	1.000000	0.71417	0.999000	0.59377	0.193000	0.23685	6.198000	0.72106	0.409000	0.25649	0.332000	0.21555	AAG		0.532	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			14	198	0	0	0	0.003163	0	14	198				
EPHB6	2051	broad.mit.edu	37	7	142568025	142568025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142568025G>T	ENST00000392957.2	+	18	3453	c.2666G>T	c.(2665-2667)gGa>gTa	p.G889V	EPHB6_ENST00000442129.1_Missense_Mutation_p.G889V|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.G612V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	889	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.G874V(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTCCTCCTGGATTACATCTA	0.532																																							uc011kst.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2665-2667)GGA>GTA		ephrin receptor EphB6 precursor							134.0	157.0	149.0					7																	142568025		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568025G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2666G>T	7.37:g.142568025G>T	ENSP00000376684:p.Gly889Val					EPHB6_uc011ksu.1_Missense_Mutation_p.G889V|EPHB6_uc003wbs.2_Missense_Mutation_p.G597V|EPHB6_uc003wbt.2_Missense_Mutation_p.G363V|EPHB6_uc003wbu.2_Missense_Mutation_p.G597V|EPHB6_uc003wbv.2_Missense_Mutation_p.G273V	p.G889V	NM_004445	NP_004436	O15197	EPHB6_HUMAN			18	3453	+	Melanoma(164;0.059)		889			Cytoplasmic (Potential).|Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2666G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249641	0.39797	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82433	-1.61;-1.61;-1.61	5.58	2.55	0.30701	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.145070	0.32028	N	0.006681	T	0.66839	0.2830	N	0.08118	0	0.58432	D	0.999999	B;B	0.20368	0.044;0.036	B;B	0.24848	0.056;0.018	T	0.60188	-0.7312	10	0.44086	T	0.13	.	10.779	0.46367	0.0:0.4946:0.36:0.1454	.	889;612	O15197;O15197-2	EPHB6_HUMAN;.	V	889;889;612	ENSP00000376684:G889V;ENSP00000410789:G889V;ENSP00000409061:G612V	ENSP00000376684:G889V	G	+	2	0	EPHB6	142278147	0.904000	0.30761	1.000000	0.80357	0.990000	0.78478	1.707000	0.37888	0.668000	0.31126	0.655000	0.94253	GGA		0.532	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			50	296	1	0	2.9001e-28	0.00361	5.31053e-28	50	296				
TRPV6	55503	broad.mit.edu	37	7	142572888	142572888	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142572888G>A	ENST00000359396.3	-	9	1397	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	384					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.I384I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGACCAGCCGGATATCGTCCT	0.567																																							uc003wbx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1150-1152)ATC>ATT		transient receptor potential cation channel,							114.0	103.0	107.0					7																	142572888		2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572888G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1152C>T	7.37:g.142572888G>A						TRPV6_uc003wbw.1_Silent_p.I170I|TRPV6_uc010lou.1_Silent_p.I255I	p.I384I	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			9	1368	-	Melanoma(164;0.059)		384			Extracellular (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.1152C>T	CCDS5874.1																																																																																				0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		5	106	0	0	0	0.000602	0	5	106				
TRPV5	56302	broad.mit.edu	37	7	142626598	142626598	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142626598T>G	ENST00000265310.1	-	4	760	c.412A>C	c.(412-414)Acc>Ccc	p.T138P	TRPV5_ENST00000442623.1_Missense_Mutation_p.T138P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	138					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.T138P(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCCTGCGGGTGAGCAGGGCA	0.602																																							uc003wby.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(412-414)ACC>CCC		transient receptor potential cation channel,							93.0	82.0	86.0					7																	142626598		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142626598T>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.412A>C	7.37:g.142626598T>G	ENSP00000265310:p.Thr138Pro					TRPV5_uc003wbz.2_Missense_Mutation_p.T138P	p.T138P	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			4	676	-	Melanoma(164;0.059)		138			ANK 3.|Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.412A>C	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291384	0.23564	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.64803	-0.12;0.64;-0.12	4.85	-1.78	0.07957	Ankyrin repeat-containing domain (4);	0.700839	0.15204	N	0.274832	T	0.45236	0.1332	L	0.28400	0.85	0.09310	N	1	B;P	0.38455	0.355;0.632	B;B	0.41412	0.356;0.202	T	0.36456	-0.9747	10	0.48119	T	0.1	-1.8777	4.0186	0.09655	0.349:0.3536:0.0:0.2975	.	138;138	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	P	138;132;138	ENSP00000265310:T138P;ENSP00000406361:T132P;ENSP00000406572:T138P	ENSP00000265310:T138P	T	-	1	0	TRPV5	142336720	0.058000	0.20735	0.002000	0.10522	0.155000	0.21991	0.492000	0.22435	-0.646000	0.05452	-1.327000	0.01280	ACC		0.602	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		23	81	0	0	0	0.004656	0	23	81				
PIP	5304	broad.mit.edu	37	7	142829214	142829214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142829214G>A	ENST00000291009.3	+	1	45	c.5G>A	c.(4-6)cGc>cAc	p.R2H		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	2					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R2H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TCCAGCATGCGCTTGCTCCAG	0.552																																							uc003wcf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)CGC>CAC		prolactin-induced protein precursor							238.0	229.0	232.0					7																	142829214		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142829214G>A		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.5G>A	7.37:g.142829214G>A	ENSP00000291009:p.Arg2His						p.R2H	NM_002652	NP_002643	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	1	41	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	2					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.5G>A	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500809	0.12822	.	.	ENSG00000159763	ENST00000291009	.	.	.	4.65	-9.3	0.00649	.	1.822250	0.02811	N	0.124390	T	0.17619	0.0423	L	0.29908	0.895	0.09310	N	1	B	0.22146	0.065	B	0.12156	0.007	T	0.13072	-1.0523	9	0.13108	T	0.6	.	2.5535	0.04754	0.5358:0.0983:0.1679:0.1979	.	2	P12273	PIP_HUMAN	H	2	.	ENSP00000291009:R2H	R	+	2	0	PIP	142539336	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-2.645000	0.00861	-1.914000	0.01078	-0.742000	0.03525	CGC		0.552	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		11	486	0	0	0	0.001855	0	11	486				
TAS2R39	259285	broad.mit.edu	37	7	142881157	142881157	+	Missense_Mutation	SNP	G	G	A	rs150355894		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:142881157G>A	ENST00000446620.1	+	1	646	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	216					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.G216R(1)|p.G216W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTTTAACCTGGGGATTGTGAC	0.468																																							uc011ksw.1		NA																	2	Substitution - Missense(2)	p.G216W(1)	lung(1)|skin(1)	skin(1)	1						c.(646-648)GGG>AGG		taste receptor, type 2, member 39		G	ARG/GLY	0,3924		0,0,1962	138.0	125.0	129.0		646	2.6	0.0	7	dbSNP_134	129	1,8299		0,1,4149	no	missense	TAS2R39	NM_176881.2	125	0,1,6111	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	216/339	142881157	1,12223	1962	4150	6112	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142881157G>A	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.646G>A	7.37:g.142881157G>A	ENSP00000405095:p.Gly216Arg						p.G216R	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	646	+	Melanoma(164;0.059)		216			Helical; Name=5; (Potential).		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.646G>A	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384449	0.25031	0.0	1.2E-4	ENSG00000236398	ENST00000446620	T	0.38887	1.11	4.45	2.63	0.31362	.	.	.	.	.	T	0.57051	0.2027	M	0.62266	1.93	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41734	-0.9492	9	0.35671	T	0.21	.	9.0705	0.36488	0.2525:0.0:0.7475:0.0	.	216	P59534	T2R39_HUMAN	R	216	ENSP00000405095:G216R	ENSP00000405095:G216R	G	+	1	0	TAS2R39	142591279	0.046000	0.20272	0.009000	0.14445	0.126000	0.20510	0.817000	0.27281	0.622000	0.30249	0.650000	0.86243	GGG		0.468	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		37	97	0	0	0	0.00623	0	37	97				
CNTNAP2	26047	broad.mit.edu	37	7	147336213	147336213	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:147336213C>T	ENST00000361727.3	+	13	2429	c.1913C>T	c.(1912-1914)aCc>aTc	p.T638I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	638	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.T638I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGTGTGGACCATAGTGTCT	0.473										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1912-1914)ACC>ATC		cell recognition molecule Caspr2 precursor							120.0	119.0	119.0					7																	147336213		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336213C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1913C>T	7.37:g.147336213C>T	ENSP00000354778:p.Thr638Ile	HNSCC(39;0.1)					p.T638I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2429	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	638			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1913C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413016	0.83449	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.28454	1.61;2.61	5.74	5.74	0.90152	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.136633	0.47455	D	0.000222	T	0.55146	0.1902	H	0.95224	3.64	0.80722	D	1	P	0.39044	0.656	B	0.41466	0.358	T	0.67604	-0.5628	10	0.66056	D	0.02	.	18.8598	0.92267	0.0:1.0:0.0:0.0	.	638	Q9UHC6	CNTP2_HUMAN	I	638;29	ENSP00000354778:T638I;ENSP00000392208:T29I	ENSP00000354778:T638I	T	+	2	0	CNTNAP2	146967146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.943000	0.75934	2.873000	0.98535	0.561000	0.74099	ACC		0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			17	180	0	0	0	0.010504	0	17	180				
ZNF746	155061	broad.mit.edu	37	7	149172163	149172163	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149172163T>A	ENST00000340622.3	-	7	1527	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L	ZNF746_ENST00000458143.2_Missense_Mutation_p.Q417L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	416					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.Q416L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCTTGGGGCCTGGCTGGGGTC	0.662																																							uc003wfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1246-1248)CAG>CTG		zinc finger protein 746 isoform 2							11.0	12.0	12.0					7																	149172163		2193	4281	6474	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149172163T>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1247A>T	7.37:g.149172163T>A	ENSP00000345140:p.Gln416Leu					ZNF746_uc010lpi.2_Missense_Mutation_p.Q417L	p.Q416L	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	1518	-	Melanoma(164;0.165)		416					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.1247A>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014567	0.54468	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.08546	3.11;3.08	4.22	1.63	0.23807	.	0.962061	0.08423	U	0.948012	T	0.06371	0.0164	N	0.24115	0.695	0.29730	N	0.837976	B;B	0.33103	0.397;0.201	B;B	0.34779	0.132;0.189	T	0.35871	-0.9771	10	0.59425	D	0.04	-18.9778	4.5329	0.12013	0.0:0.1115:0.3517:0.5368	.	417;416	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	L	416;417	ENSP00000345140:Q416L;ENSP00000395007:Q417L	ENSP00000345140:Q416L	Q	-	2	0	ZNF746	148803096	0.883000	0.30277	0.993000	0.49108	0.970000	0.65996	0.775000	0.26689	0.495000	0.27882	0.455000	0.32223	CAG		0.662	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		4	17	0	0	0	0.009096	0	4	17				
ZNF467	168544	broad.mit.edu	37	7	149467542	149467542	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149467542C>A	ENST00000302017.3	-	3	551	c.138G>T	c.(136-138)ctG>ctT	p.L46L	ZNF467_ENST00000484747.1_Silent_p.L46L	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	46					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.L46L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCACACCCCCAGTGCTCTCT	0.597																																							uc003wgd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)CTG>CTT		zinc finger protein 467							62.0	62.0	62.0					7																	149467542		2203	4300	6503	SO:0001819	synonymous_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149467542C>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.138G>T	7.37:g.149467542C>A						ZNF467_uc003wgc.2_Silent_p.L46L	p.L46L	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		3	279	-	Melanoma(164;0.165)|Ovarian(565;0.177)		46						Silent	SNP	ENST00000302017.3	37	c.138G>T	CCDS5899.1																																																																																				0.597	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		15	47	1	0	2.31682e-05	0.003163	2.7594e-05	15	47				
SSPO	23145	broad.mit.edu	37	7	149483249	149483249	+	RNA	SNP	G	G	T	rs372027582		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149483249G>T	ENST00000378016.2	+	0	3317							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.R356L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAGCCTGCGTCGTGCTGGC	0.652																																							uc010lpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3316-3318)CGT>CTT		SCO-spondin precursor							35.0	42.0	40.0					7																	149483249		2132	4235	6367			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149483249G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149483249G>T						SSPO_uc010lpl.1_Missense_Mutation_p.R356L	p.R1106L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		23	3317	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1106			VWFD 3.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.3317G>T																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	14	1	0	0.000602214	0.000602	0.000674971	4	14				
SSPO	23145	broad.mit.edu	37	7	149500790	149500790	+	RNA	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149500790G>T	ENST00000378016.2	+	0	8108							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGAGAAGGGGGAGTTGCTG	0.697																																							uc010lpk.2		NA																	0					0						c.(8107-8109)GGG>GTG		SCO-spondin precursor							16.0	19.0	18.0					7																	149500790		2061	4195	6256			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500790G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500790G>T							p.G2703V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		56	8108	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2703					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.8108G>T																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	20	1	0	0.00909568	0.009096	0.00983662	4	20				
SSPO	23145	broad.mit.edu	37	7	149509187	149509187	+	RNA	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:149509187C>G	ENST00000378016.2	+	0	9733							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCCATGTCTCCTGCAGGG	0.687																																							uc010lpk.2		NA																	0					0						c.(9733-9735)CTC>GTC		SCO-spondin precursor							35.0	41.0	39.0					7																	149509187		2138	4233	6371			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509187C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509187C>G							p.L3245V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		69	9733	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3245			TSP type-1 11.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9733C>G																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	56	0	0	0	0.000602	0	4	56				
GIMAP8	155038	broad.mit.edu	37	7	150164204	150164204	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:150164204G>T	ENST00000307271.3	+	2	992	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	140	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.G140W(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGATGATTTGGGGGATGACTT	0.453																																							uc003whj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(418-420)GGG>TGG		GTPase, IMAP family member 8							85.0	82.0	83.0					7																	150164204		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164204G>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.418G>T	7.37:g.150164204G>T	ENSP00000305107:p.Gly140Trp						p.G140W	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	748	+			140						Missense_Mutation	SNP	ENST00000307271.3	37	c.418G>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444742	0.43429	.	.	ENSG00000171115	ENST00000307271	T	0.62364	0.03	4.35	2.54	0.30619	AIG1 (1);	1.110130	0.06973	N	0.818436	T	0.75910	0.3914	M	0.77616	2.38	0.09310	N	1	D	0.67145	0.996	P	0.62649	0.905	T	0.55692	-0.8101	10	0.72032	D	0.01	.	6.5979	0.22685	0.2196:0.0:0.7804:0.0	.	140	Q8ND71	GIMA8_HUMAN	W	140	ENSP00000305107:G140W	ENSP00000305107:G140W	G	+	1	0	GIMAP8	149795137	0.001000	0.12720	0.011000	0.14972	0.161000	0.22273	0.941000	0.29005	0.494000	0.27859	0.650000	0.86243	GGG		0.453	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		20	65	1	0	2.94398e-08	0.007413	3.97347e-08	20	65				
TMEM176B	28959	broad.mit.edu	37	7	150490383	150490383	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:150490383G>A	ENST00000447204.2	-	5	765	c.393C>T	c.(391-393)ctC>ctT	p.L131L	TMEM176B_ENST00000450753.2_Silent_p.L94L|TMEM176B_ENST00000434545.1_Silent_p.L131L|TMEM176B_ENST00000429904.2_Silent_p.L131L|TMEM176B_ENST00000326442.5_Silent_p.L131L|TMEM176B_ENST00000492607.1_Silent_p.L131L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	131					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L131L(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCCAGGGTGAGCAGGCTGG	0.517																																							uc003wht.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(391-393)CTC>CTT		transmembrane protein 176B isoform a							55.0	49.0	51.0					7																	150490383		2203	4300	6503	SO:0001819	synonymous_variant	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490383G>A	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.393C>T	7.37:g.150490383G>A						TMEM176B_uc003whu.3_Silent_p.L131L|TMEM176B_uc003whv.3_Silent_p.L94L|TMEM176B_uc003whw.3_Silent_p.L131L	p.L131L	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	559	-			131			Helical; (Potential).		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	ENST00000447204.2	37	c.393C>T	CCDS5908.1																																																																																				0.517	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		13	26	0	0	0	0.00245	0	13	26				
KMT2C	58508	broad.mit.edu	37	7	151945260	151945260	+	Silent	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:151945260T>C	ENST00000262189.6	-	14	2477	c.2259A>G	c.(2257-2259)tcA>tcG	p.S753S	KMT2C_ENST00000355193.2_Silent_p.S753S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	753					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S753S(2)									CTCCTTGGTATGAAACATCTT	0.393																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - coding silent(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2257-2259)TCA>TCG		myeloid/lymphoid or mixed-lineage leukemia 3							98.0	92.0	94.0					7																	151945260		2203	4296	6499	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945260T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2259A>G	7.37:g.151945260T>C							p.S753S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2478	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	753					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2259A>G	CCDS5931.1																																																																																				0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	239	0	0	0	0.008291	0	11	239				
HTR5A	3361	broad.mit.edu	37	7	154862664	154862664	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154862664G>C	ENST00000287907.2	+	1	631	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	19					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.E19Q(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTCCCCTTTGGAGACCAACCA	0.597																																							uc003wlu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(55-57)GAG>CAG		5-hydroxytryptamine receptor 5A							96.0	102.0	100.0					7																	154862664		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862664G>C		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.55G>C	7.37:g.154862664G>C	ENSP00000287907:p.Glu19Gln					uc011kvt.1_Intron|uc003wlt.2_Intron	p.E19Q	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	119	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	19			Extracellular (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.55G>C	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	8.382	0.837772	0.16891	.	.	ENSG00000157219	ENST00000287907	T	0.37752	1.18	4.42	3.49	0.39957	.	1.256850	0.05614	N	0.578579	T	0.20941	0.0504	N	0.08118	0	0.21822	N	0.999525	B	0.34214	0.442	B	0.31751	0.135	T	0.03863	-1.0997	10	0.14252	T	0.57	.	12.1317	0.53946	0.0:0.1882:0.8118:0.0	.	19	P47898	5HT5A_HUMAN	Q	19	ENSP00000287907:E19Q	ENSP00000287907:E19Q	E	+	1	0	HTR5A	154493597	1.000000	0.71417	0.968000	0.41197	0.717000	0.41224	2.381000	0.44336	2.270000	0.75569	0.467000	0.42956	GAG		0.597	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		22	120	0	0	0	0.00278	0	22	120				
HTR5A	3361	broad.mit.edu	37	7	154862942	154862942	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154862942G>C	ENST00000287907.2	+	1	909	c.333G>C	c.(331-333)cgG>cgC	p.R111R	HTR5A-AS1_ENST00000543018.1_Silent_p.L24L|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Silent_p.L24L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	111					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.R111R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AGCTAGGTCGGAGGCTGTGCC	0.667																																							uc003wlu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(331-333)CGG>CGC		5-hydroxytryptamine receptor 5A							52.0	43.0	46.0					7																	154862942		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862942G>C		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.333G>C	7.37:g.154862942G>C						uc011kvt.1_Silent_p.L24L|uc003wlt.2_Silent_p.L24L	p.R111R	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	397	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	111			Extracellular (By similarity).		Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.333G>C	CCDS5936.1																																																																																				0.667	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		8	30	0	0	0	0.004482	0	8	30				
HTR5A	3361	broad.mit.edu	37	7	154876005	154876005	+	Missense_Mutation	SNP	C	C	A	rs145653373		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154876005C>A	ENST00000287907.2	+	2	1458	c.882C>A	c.(880-882)ttC>ttA	p.F294L	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	294					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.F294L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TTGGCGTGTTCGTGCTCTGCT	0.622																																							uc003wlu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(880-882)TTC>TTA		5-hydroxytryptamine receptor 5A							222.0	177.0	192.0					7																	154876005		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154876005C>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.882C>A	7.37:g.154876005C>A	ENSP00000287907:p.Phe294Leu						p.F294L	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	946	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	294			Helical; Name=6; (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.882C>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	c	14.20	2.464457	0.43736	.	.	ENSG00000157219	ENST00000287907	T	0.56611	0.45	4.93	-6.6	0.01824	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	H	0.96943	3.91	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	T	0.82621	-0.0367	10	0.87932	D	0	.	14.9714	0.71238	0.0:0.4659:0.0:0.5341	.	294	P47898	5HT5A_HUMAN	L	294	ENSP00000287907:F294L	ENSP00000287907:F294L	F	+	3	2	HTR5A	154506938	0.048000	0.20356	0.031000	0.17742	0.067000	0.16453	-0.833000	0.04396	-1.465000	0.01899	-1.553000	0.00894	TTC		0.622	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		34	111	1	0	8.4185e-14	0.002445	1.32697e-13	34	111				
HTR5A	3361	broad.mit.edu	37	7	154876017	154876017	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:154876017G>T	ENST00000287907.2	+	2	1470	c.894G>T	c.(892-894)tgG>tgT	p.W298C	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	298					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.W298C(2)|p.W298*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGCTCTGCTGGATCCCCTTCT	0.607																																							uc003wlu.1		NA																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(2)|large_intestine(1)	3						c.(892-894)TGG>TGT		5-hydroxytryptamine receptor 5A							239.0	193.0	209.0					7																	154876017		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154876017G>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.894G>T	7.37:g.154876017G>T	ENSP00000287907:p.Trp298Cys						p.W298C	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	958	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	298			Helical; Name=6; (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.894G>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178350	0.78564	.	.	ENSG00000157219	ENST00000287907	T	0.81415	-1.49	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96920	0.9673	10	0.87932	D	0	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	298	P47898	5HT5A_HUMAN	C	298	ENSP00000287907:W298C	ENSP00000287907:W298C	W	+	3	0	HTR5A	154506950	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.438000	0.97539	2.274000	0.75844	0.655000	0.94253	TGG		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		38	132	1	0	3.21399e-22	0.004878	5.6373e-22	38	132				
RP1L1	94137	broad.mit.edu	37	8	10467868	10467868	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:10467868G>A	ENST00000382483.3	-	4	3963	c.3740C>T	c.(3739-3741)cCa>cTa	p.P1247L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1247					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P1247L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGATCCCCTGGGCTCTCATA	0.552																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3739-3741)CCA>CTA		retinitis pigmentosa 1-like 1							60.0	63.0	62.0					8																	10467868		1972	4147	6119	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467868G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3740C>T	8.37:g.10467868G>A	ENSP00000371923:p.Pro1247Leu						p.P1247L	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3969	-			1247					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3740C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047964	0.36085	.	.	ENSG00000183638	ENST00000382483	T	0.04275	3.66	4.23	-2.4	0.06583	.	1.101250	0.07194	N	0.856310	T	0.03095	0.0091	L	0.27053	0.805	0.09310	N	1	B	0.24963	0.115	B	0.20767	0.031	T	0.45731	-0.9241	10	0.44086	T	0.13	-0.0117	1.0542	0.01586	0.1678:0.2371:0.1979:0.3971	.	1247	A6NKC6	.	L	1247	ENSP00000371923:P1247L	ENSP00000371923:P1247L	P	-	2	0	RP1L1	10505278	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.056000	0.03489	-0.378000	0.07918	-0.291000	0.09656	CCA		0.552	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			12	45	0	0	0	0.000978	0	12	45				
DOK2	9046	broad.mit.edu	37	8	21767420	21767421	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:21767420_21767421CC>AA	ENST00000276420.4	-	5	898_899	c.640_641GG>TT	c.(640-642)GGc>TTc	p.G214F	DOK2_ENST00000544659.1_Missense_Mutation_p.G60F	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	214	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.G214F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCAGCGACGGCCTGCCTCAAAG	0.52																																							uc003wzy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(640-642)GGC>TTC		docking protein 2																																				SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767420_21767421CC>AA	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.640_641delinsAA	8.37:g.21767420_21767421delinsAA	ENSP00000276420:p.Gly214Phe					DOK2_uc003wzx.1_Missense_Mutation_p.G214F|DOK2_uc003wzz.1_Missense_Mutation_p.G60F|DOK2_uc010lth.1_Missense_Mutation_p.G60F	p.G214F	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	5	733_734	-			214			IRS-type PTB.		Q8N5A4	Missense_Mutation	DNP	ENST00000276420.4	37	c.640_641GG>TT	CCDS6016.1																																																																																				0.520	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		3	33	0	0	0	0.004672	0	3	33				
PTK2B	2185	broad.mit.edu	37	8	27295394	27295394	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:27295394A>C	ENST00000397501.1	+	23	2448	c.1640A>C	c.(1639-1641)cAc>cCc	p.H547P	PTK2B_ENST00000420218.2_Missense_Mutation_p.H547P|PTK2B_ENST00000544172.1_Missense_Mutation_p.H547P|PTK2B_ENST00000517339.1_Missense_Mutation_p.H547P|PTK2B_ENST00000346049.5_Missense_Mutation_p.H547P|PTK2B_ENST00000397497.4_Missense_Mutation_p.H293P|PTK2B_ENST00000338238.4_Missense_Mutation_p.H547P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.H547P(2)|p.H293P(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AACTGCGTGCACAGGTAGGGG	0.587																																							uc003xfn.1		NA																	3	Substitution - Missense(3)		lung(3)	lung(3)|ovary(1)|skin(1)	5						c.(1639-1641)CAC>CCC		PTK2B protein tyrosine kinase 2 beta isoform a							71.0	52.0	58.0					8																	27295394		2202	4300	6502	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27295394A>C	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1640A>C	8.37:g.27295394A>C	ENSP00000380638:p.His547Pro					PTK2B_uc003xfo.1_Missense_Mutation_p.H547P|PTK2B_uc003xfp.1_Missense_Mutation_p.H547P|PTK2B_uc003xfq.1_Missense_Mutation_p.H547P|PTK2B_uc003xfr.1_Missense_Mutation_p.H293P	p.H547P	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	23	2448	+		Ovarian(32;2.72e-05)	547			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1640A>C	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.578276	0.86645	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	H	0.99900	4.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97459	1.0033	10	0.87932	D	0	.	12.9543	0.58418	1.0:0.0:0.0:0.0	.	293;547;547	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	P	547;552;547;547;547;547;547;293	ENSP00000380638:H547P;ENSP00000342242:H547P;ENSP00000440926:H547P;ENSP00000332816:H547P;ENSP00000391995:H547P;ENSP00000427931:H547P;ENSP00000380634:H293P	ENSP00000342242:H547P	H	+	2	0	PTK2B	27351311	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.282000	0.95840	1.960000	0.56953	0.459000	0.35465	CAC		0.587	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		5	25	0	0	0	0.000602	0	5	25				
TEX15	56154	broad.mit.edu	37	8	30705979	30705979	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:30705979G>T	ENST00000256246.2	-	1	629	c.555C>A	c.(553-555)tcC>tcA	p.S185S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	185					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S185S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGCATTACCGGACTCCTGTT	0.413																																							uc003xil.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(553-555)TCC>TCA		testis expressed 15							53.0	56.0	55.0					8																	30705979		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30705979G>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.555C>A	8.37:g.30705979G>T							p.S185S	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	555	-			185						Silent	SNP	ENST00000256246.2	37	c.555C>A	CCDS6080.1																																																																																				0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			4	55	1	0	2.56e-06	0.009096	3.19223e-06	4	55				
WRN	7486	broad.mit.edu	37	8	30977913	30977913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:30977913G>T	ENST00000298139.5	+	21	2852	c.2603G>T	c.(2602-2604)tGg>tTg	p.W868L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	868	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.W868L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CACGTCCTCTGGGCTCCTGCA	0.368			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2602-2604)TGG>TTG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							82.0	78.0	80.0					8																	30977913		2203	4299	6502	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30977913G>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2603G>T	8.37:g.30977913G>T	ENSP00000298139:p.Trp868Leu					WRN_uc010lvk.2_Missense_Mutation_p.W335L	p.W868L	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	21	3391	+		Breast(100;0.195)	868			Helicase C-terminal.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2603G>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208229	0.58343	.	.	ENSG00000165392	ENST00000298139	T	0.04015	3.73	5.76	4.88	0.63580	Helicase, C-terminal (1);	0.133785	0.53938	D	0.000048	T	0.09423	0.0232	N	0.16656	0.425	0.48830	D	0.999712	D;D	0.67145	0.992;0.996	P;P	0.61201	0.885;0.883	T	0.27468	-1.0073	10	0.66056	D	0.02	-0.4489	14.6907	0.69083	0.0705:0.0:0.9295:0.0	.	278;868	Q59F09;Q14191	.;WRN_HUMAN	L	868	ENSP00000298139:W868L	ENSP00000298139:W868L	W	+	2	0	WRN	31097455	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	6.002000	0.70693	1.570000	0.49709	0.655000	0.94253	TGG		0.368	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	55	1	0	0.00307968	0.00308	0.0033804	8	55				
UNC5D	137970	broad.mit.edu	37	8	35541233	35541233	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:35541233G>A	ENST00000404895.2	+	5	1067	c.739G>A	c.(739-741)Gtt>Att	p.V247I	UNC5D_ENST00000453357.2_Missense_Mutation_p.V242I|UNC5D_ENST00000420357.1_Missense_Mutation_p.V247I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V247I|UNC5D_ENST00000287272.2_Missense_Mutation_p.V247I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	247					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.V242I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCGGCCACTGTTGTGGTCTA	0.502																																							uc003xjr.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(739-741)GTT>ATT		unc-5 homolog D precursor							51.0	46.0	47.0					8																	35541233		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541233G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.739G>A	8.37:g.35541233G>A	ENSP00000385143:p.Val247Ile					UNC5D_uc003xjs.1_Missense_Mutation_p.V242I|UNC5D_uc003xjt.1_Missense_Mutation_p.V16I	p.V247I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	1067	+			247			Extracellular (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.739G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376826	0.42105	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.39	4.51	0.55191	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.109676	0.64402	D	0.000009	T	0.35740	0.0942	L	0.38692	1.165	0.80722	D	1	B;P;B	0.39116	0.36;0.66;0.205	B;B;B	0.40702	0.151;0.338;0.103	T	0.07195	-1.0785	10	0.20519	T	0.43	-18.8924	14.3748	0.66867	0.0711:0.0:0.9289:0.0	.	247;242;247	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	247;247;247;247;242	ENSP00000385143:V247I;ENSP00000392739:V247I;ENSP00000287272:V247I;ENSP00000412652:V247I;ENSP00000394303:V242I	ENSP00000287272:V247I	V	+	1	0	UNC5D	35660775	1.000000	0.71417	0.920000	0.36463	0.450000	0.32258	8.018000	0.88722	1.436000	0.47453	0.655000	0.94253	GTT		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			6	24	0	0	0	0.001984	0	6	24				
KCNU1	157855	broad.mit.edu	37	8	36671868	36671868	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:36671868C>T	ENST00000399881.3	+	8	913	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	292					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F292F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACGGACCTTCATCATGTTCT	0.353																																							uc010lvw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(874-876)TTC>TTT		potassium channel, subfamily U, member 1							67.0	62.0	63.0					8																	36671868		1849	4095	5944	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671868C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.876C>T	8.37:g.36671868C>T						KCNU1_uc003xjw.2_RNA	p.F292F	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	963	+			292			Helical; Name=Segment S6; (Potential).			Silent	SNP	ENST00000399881.3	37	c.876C>T	CCDS55220.1																																																																																				0.353	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		8	20	0	0	0	0.008291	0	8	20				
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A	rs368283762	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:36766906G>A	ENST00000399881.3	+	21	2221	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		16189	0.002		0.0	False		,,,				2504	0.0						uc010lvw.2		NA																	5	Substitution - coding silent(5)		cervix(2)|lung(2)|prostate(1)	ovary(1)	1						c.(2182-2184)CCG>CCA		potassium channel, subfamily U, member 1							228.0	221.0	223.0					8																	36766906		1863	4108	5971	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766906G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2184G>A	8.37:g.36766906G>A						KCNU1_uc003xjw.2_RNA	p.P728P	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2271	+			728			Segment S9.|Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.2184G>A	CCDS55220.1																																																																																				0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		39	276	0	0	0	0.003214	0	39	276				
ADAM2	2515	broad.mit.edu	37	8	39646227	39646227	+	Silent	SNP	G	G	T	rs199916948		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:39646227G>T	ENST00000265708.4	-	8	706	c.603C>A	c.(601-603)gtC>gtA	p.V201V	ADAM2_ENST00000521880.1_Silent_p.V201V|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Silent_p.V182V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	201	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V201V(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTTTTGAGCGACAACAGTTG	0.289																																							uc003xnj.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|lung(1)	2						c.(601-603)GTC>GTA		ADAM metallopeptidase domain 2 proprotein							94.0	87.0	89.0					8																	39646227		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39646227G>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.603C>A	8.37:g.39646227G>T						ADAM2_uc003xnk.2_Silent_p.V182V|ADAM2_uc011lck.1_Silent_p.V201V|ADAM2_uc003xnl.2_Intron	p.V201V	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	8	678	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	201			Extracellular (Potential).|Peptidase M12B.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.603C>A	CCDS34884.1																																																																																				0.289	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		4	28	1	0	3.59834e-05	0.001168	4.24306e-05	4	28				
ANK1	286	broad.mit.edu	37	8	41542077	41542077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:41542077G>T	ENST00000347528.4	-	37	4605	c.4522C>A	c.(4522-4524)Ccc>Acc	p.P1508T	ANK1_ENST00000379758.2_Missense_Mutation_p.P1508T|ANK1_ENST00000352337.4_Missense_Mutation_p.P1508T|ANK1_ENST00000396945.1_Missense_Mutation_p.P1508T|ANK1_ENST00000265709.8_Missense_Mutation_p.P1549T|ANK1_ENST00000289734.7_Missense_Mutation_p.P1508T|ANK1_ENST00000396942.1_Missense_Mutation_p.P1508T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1508	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P1549T(1)|p.P1508T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATCTGGGAGGGTGACAGCGAG	0.607																																							uc003xok.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4522-4524)CCC>ACC		ankyrin 1 isoform 1							83.0	64.0	70.0					8																	41542077		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41542077G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4522C>A	8.37:g.41542077G>T	ENSP00000339620:p.Pro1508Thr					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.P824T|ANK1_uc003xoi.2_Missense_Mutation_p.P1508T|ANK1_uc003xoj.2_Missense_Mutation_p.P1508T|ANK1_uc003xol.2_Missense_Mutation_p.P1508T|ANK1_uc003xom.2_Missense_Mutation_p.P1549T	p.P1508T	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		37	4606	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1508			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4522C>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.52|19.52	3.843880|3.843880	0.71488|0.71488	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.65549|.	-0.15;-0.16;-0.13;-0.11;-0.13;-0.12;-0.14|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70002|0.70002	0.3174|0.3174	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;P;B;B;D;P|.	0.89917|.	1.0;0.763;0.129;0.082;1.0;0.949|.	D;B;B;B;D;P|.	0.91635|.	0.999;0.311;0.017;0.036;0.999;0.829|.	T|T	0.66376|0.66376	-0.5939|-0.5939	10|5	0.14252|.	T|.	0.57|.	.|.	18.363|18.363	0.90382|0.90382	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1549;1508;1508;1508;1508;824|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	T|N	1508;1508;1508;1508;1508;1508;1549;1508|829	ENSP00000339620:P1508T;ENSP00000289734:P1508T;ENSP00000369082:P1508T;ENSP00000380149:P1508T;ENSP00000380147:P1508T;ENSP00000309131:P1508T;ENSP00000265709:P1549T|.	ENSP00000265709:P1549T|.	P|T	-|-	1|2	0|0	ANK1|ANK1	41661234|41661234	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.484000|0.484000	0.33280|0.33280	9.238000|9.238000	0.95380|0.95380	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		9	55	1	0	0.00448238	0.004482	0.00488872	9	55				
POTEA	340441	broad.mit.edu	37	8	43211972	43211972	+	RNA	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:43211972C>A	ENST00000522175.2	+	0	1295							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S477R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAAAAATAGCCACTATGAGC	0.363																																							uc003xpz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1429-1431)AGC>AGA		POTE ankyrin domain family, member A isoform 2							82.0	73.0	76.0					8																	43211972		1827	4094	5921			340441							g.chr8:43211972C>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43211972C>A						POTEA_uc003xqa.1_Missense_Mutation_p.S431R	p.S477R	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			12	1474	+			477			Potential.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.1431C>A																																																																																					0.363	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		6	38	1	0	0.00198382	0.001984	0.00218689	6	38				
PXDNL	137902	broad.mit.edu	37	8	52232456	52232456	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:52232456G>T	ENST00000356297.4	-	23	4487	c.4387C>A	c.(4387-4389)Cgc>Agc	p.R1463S	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1463					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R1463S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTTATTAGCGCTTCTCTGGG	0.458																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4387-4389)CGC>AGC		peroxidasin homolog-like precursor							49.0	48.0	49.0					8																	52232456		1865	4088	5953	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52232456G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4387C>A	8.37:g.52232456G>T	ENSP00000348645:p.Arg1463Ser					PXDNL_uc003xqt.3_RNA	p.R1463S	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			23	4488	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1463					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4387C>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.240107|1.240107	0.22711|0.22711	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.63580|.	-0.05|.	4.37|4.37	0.071|0.071	0.14380|0.14380	.|.	.|.	.|.	.|.	.|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.18863|.	0.031|.	B|.	0.08055|.	0.003|.	T|T	0.25398|0.25398	-1.0133|-1.0133	9|5	0.87932|.	D|.	0|.	.|.	3.8129|3.8129	0.08804|0.08804	0.3515:0.1819:0.4666:0.0|0.3515:0.1819:0.4666:0.0	.|.	1463|.	A1KZ92|.	PXDNL_HUMAN|.	S|R	1463|536	ENSP00000348645:R1463S|.	ENSP00000348645:R1463S|.	R|S	-|-	1|3	0|2	PXDNL|PXDNL	52395009|52395009	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	0.053000|0.053000	0.14184|0.14184	-0.373000|-0.373000	0.07979|0.07979	-0.345000|-0.345000	0.07892|0.07892	CGC|AGC		0.458	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	36	1	0	0.00198382	0.001984	0.00218689	6	36				
RAB2A	5862	broad.mit.edu	37	8	61484660	61484660	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:61484660G>T	ENST00000262646.7	+	3	525	c.174G>T	c.(172-174)caG>caT	p.Q58H	RAB2A_ENST00000529579.1_Missense_Mutation_p.Q58H|RAB2A_ENST00000531289.1_Missense_Mutation_p.Q34H	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	58					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q58H(2)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TAAAACTTCAGATATGGGATA	0.318																																							uc003xud.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(172-174)CAG>CAT		RAB2A, member RAS oncogene family							101.0	96.0	98.0					8																	61484660		2203	4300	6503	SO:0001583	missense	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61484660G>T		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.174G>T	8.37:g.61484660G>T	ENSP00000262646:p.Gln58His					RAB2A_uc011lef.1_Missense_Mutation_p.Q34H	p.Q58H	NM_002865	NP_002856	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		3	382	+			58					B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	c.174G>T	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534395	0.64972	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	T;T;T	0.78481	-1.18;-1.18;-1.18	5.47	2.71	0.32032	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.82245	0.4995	M	0.68317	2.08	0.53688	D	0.999976	P;P	0.52463	0.953;0.947	P;P	0.59288	0.855;0.855	T	0.80520	-0.1346	10	0.87932	D	0	.	8.2188	0.31528	0.2524:0.0:0.7476:0.0	.	34;58	B4DMQ5;P61019	.;RAB2A_HUMAN	H	58;34;58;12	ENSP00000262646:Q58H;ENSP00000431846:Q34H;ENSP00000431589:Q58H	ENSP00000262646:Q58H	Q	+	3	2	RAB2A	61647214	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.863000	0.39459	0.275000	0.22094	0.491000	0.48974	CAG		0.318	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			11	19	1	0	9.31168e-06	0.001855	1.1336e-05	11	19				
COPS5	10987	broad.mit.edu	37	8	67958151	67958151	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:67958151C>A	ENST00000357849.4	-	7	1136	c.816G>T	c.(814-816)aaG>aaT	p.K272N	COPS5_ENST00000517736.1_3'UTR|PPP1R42_ENST00000517834.1_Intron	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	272					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.K272N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTGCTCTAACTTTTCAGACA	0.433																																							uc003xxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(814-816)AAG>AAT		COP9 signalosome subunit 5							129.0	124.0	125.0					8																	67958151		2203	4300	6503	SO:0001583	missense	10987				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	g.chr8:67958151C>A	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.816G>T	8.37:g.67958151C>A	ENSP00000350512:p.Lys272Asn					COPS5_uc003xxd.2_Missense_Mutation_p.K208N|COPS5_uc003xxf.2_Missense_Mutation_p.K317N|COPS5_uc010lyu.1_RNA	p.K272N	NM_006837	NP_006828	Q92905	CSN5_HUMAN	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)		7	1147	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	272					O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	37	c.816G>T	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960406	0.74016	.	.	ENSG00000121022	ENST00000357849	.	.	.	5.68	0.996	0.19844	.	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84676	0.0714	9	0.87932	D	0	-8.2596	8.8585	0.35242	0.0:0.4843:0.0:0.5157	.	272	Q92905	CSN5_HUMAN	N	272	.	ENSP00000350512:K272N	K	-	3	2	COPS5	68120705	0.986000	0.35501	0.998000	0.56505	0.995000	0.86356	0.311000	0.19380	0.245000	0.21373	0.557000	0.71058	AAG		0.433	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			25	71	1	0	1.64293e-13	0.00333	2.56865e-13	25	71				
SLCO5A1	81796	broad.mit.edu	37	8	70744859	70744859	+	Missense_Mutation	SNP	G	G	T	rs369685189		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:70744859G>T	ENST00000260126.4	-	2	756	c.50C>A	c.(49-51)gCg>gAg	p.A17E	RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A17E|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A17E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A17E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTGGCCGGCGCCTCCAGCTG	0.632											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003xyl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(49-51)GCG>GAG		solute carrier organic anion transporter family,							35.0	42.0	39.0					8																	70744859		2201	4298	6499	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744859G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.50C>A	8.37:g.70744859G>T	ENSP00000260126:p.Ala17Glu		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.2_Missense_Mutation_p.A17E|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A17E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A17E	p.A17E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	757	-	Breast(64;0.0654)		17			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.50C>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	6.225	0.409667	0.11812	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.46819	1.01;1.38;0.86	5.31	3.47	0.39725	.	2.006110	0.02254	N	0.066905	T	0.36166	0.0957	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.32203	0.135;0.36;0.36;0.001	B;B;B;B	0.30716	0.03;0.119;0.056;0.003	T	0.35051	-0.9804	10	0.66056	D	0.02	.	7.5806	0.27963	0.0906:0.1657:0.7437:0.0	.	17;17;17;17	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	E	17	ENSP00000260126:A17E;ENSP00000434422:A17E;ENSP00000431611:A17E	ENSP00000260126:A17E	A	-	2	0	SLCO5A1	70907413	0.842000	0.29525	0.345000	0.25642	0.095000	0.18619	2.325000	0.43840	0.598000	0.29829	-0.494000	0.04653	GCG		0.632	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		16	48	1	0	8.10497e-08	0.010504	1.07323e-07	16	48				
KCNB2	9312	broad.mit.edu	37	8	73848595	73848595	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:73848595G>T	ENST00000523207.1	+	3	1593	c.1005G>T	c.(1003-1005)ttG>ttT	p.L335F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	335					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)	p.L335F(1)		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)	ACAATGAATTGGGCTTGTTGA	0.473																																							uc003xzb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1003-1005)TTG>TTT		potassium voltage-gated channel, Shab-related							105.0	106.0	105.0					8																	73848595		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.chr8:73848595G>T	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.1005G>T	8.37:g.73848595G>T	ENSP00000430846:p.Leu335Phe						p.L335F	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1593	+	Breast(64;0.137)		335			Helical; Name=Segment S5; (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1005G>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701593	0.68501	.	.	ENSG00000182674	ENST00000523207	D	0.98493	-4.96	5.74	3.87	0.44632	Ion transport (1);	0.000000	0.32970	N	0.005426	D	0.98330	0.9446	M	0.65498	2.005	0.54753	D	0.999989	D	0.76494	0.999	D	0.73380	0.98	D	0.97999	1.0359	10	0.62326	D	0.03	.	9.6755	0.40039	0.1326:0.1174:0.75:0.0	.	335	Q92953	KCNB2_HUMAN	F	335	ENSP00000430846:L335F	ENSP00000430846:L335F	L	+	3	2	KCNB2	74011149	1.000000	0.71417	0.964000	0.40570	0.904000	0.53231	1.859000	0.39418	0.699000	0.31761	0.655000	0.94253	TTG		0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		35	94	1	0	1.414e-09	0.003755	1.9996e-09	35	94				
CRISPLD1	83690	broad.mit.edu	37	8	75932315	75932315	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:75932315G>T	ENST00000262207.4	+	12	1712		c.e12+1		CRISPLD1_ENST00000517786.1_Splice_Site|CRISPLD1_ENST00000523524.1_Splice_Site	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1						face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.?(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTGCCCAAGGTAAACCAGTG	0.408																																							uc003yan.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e12+1		cysteine-rich secretory protein LCCL domain							103.0	94.0	97.0					8																	75932315		2203	4300	6503	SO:0001630	splice_region_variant	83690					extracellular region		g.chr8:75932315G>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1244+1G>T	8.37:g.75932315G>T						CRISPLD1_uc011lfk.1_Splice_Site_p.R227_splice|CRISPLD1_uc011lfl.1_Splice_Site_p.R227_splice	p.R415_splice	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		12	1619	+	Breast(64;0.0799)							B2RA60|B7Z929	Splice_Site	SNP	ENST00000262207.4	37	c.1244_splice	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421895	0.83559	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRISPLD1	76094870	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.222000	0.95196	2.834000	0.97654	0.650000	0.86243	.		0.408	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461	Intron	20	31	1	0	1.50039e-11	0.001882	2.24986e-11	20	31				
ZFHX4	79776	broad.mit.edu	37	8	77690640	77690640	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:77690640T>A	ENST00000521891.2	+	4	3738	c.3290T>A	c.(3289-3291)aTc>aAc	p.I1097N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1071N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1071N|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1071N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1071					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.I1097N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCAGTGAGATCTTTTTTGTT	0.537										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3211-3213)ATC>AAC		zinc finger homeodomain 4							115.0	123.0	120.0					8																	77690640		2000	4170	6170	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690640T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3290T>A	8.37:g.77690640T>A	ENSP00000430497:p.Ile1097Asn	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.I1097N|ZFHX4_uc003yaw.1_Missense_Mutation_p.I1071N	p.I1071N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3599	+			1071					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3212T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647659	0.29246	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.22	2.85	0.33270	.	0.000000	0.45126	U	0.000400	T	0.49218	0.1544	M	0.73598	2.24	0.54753	D	0.999982	B;P;P	0.36909	0.437;0.573;0.573	B;B;B	0.33521	0.08;0.165;0.165	T	0.51276	-0.8726	10	0.66056	D	0.02	.	9.5802	0.39484	0.0:0.142:0.0:0.858	.	1071;1071;1097	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1097;1097;1071;1071;1071	ENSP00000430497:I1097N;ENSP00000399605:I1071N;ENSP00000050961:I1071N;ENSP00000430848:I1071N	ENSP00000050961:I1071N	I	+	2	0	ZFHX4	77853195	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.095000	0.57728	0.538000	0.28769	0.528000	0.53228	ATC		0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		15	131	0	0	0	0.00499	0	15	131				
ZFHX4	79776	broad.mit.edu	37	8	77763548	77763548	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:77763548C>A	ENST00000521891.2	+	10	4839	c.4391C>A	c.(4390-4392)cCc>cAc	p.P1464H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1419H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1419H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1438H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1464H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCCTTGCCCGTGAATGGA	0.512										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4255-4257)CCC>CAC		zinc finger homeodomain 4							42.0	40.0	41.0					8																	77763548		1999	4175	6174	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763548C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4391C>A	8.37:g.77763548C>A	ENSP00000430497:p.Pro1464His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P1464H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1419H	p.P1419H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4643	+			1419					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4256C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328725	0.41197	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.74;0.71;0.69	5.05	5.05	0.67936	.	0.000000	0.44285	U	0.000474	T	0.61035	0.2315	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.98;0.991;0.991	T	0.63047	-0.6724	10	0.62326	D	0.03	.	18.5796	0.91166	0.0:1.0:0.0:0.0	.	1419;1419;1464	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1464;1464;1419;1419;1438	ENSP00000430497:P1464H;ENSP00000399605:P1419H;ENSP00000050961:P1419H;ENSP00000430848:P1438H	ENSP00000050961:P1419H	P	+	2	0	ZFHX4	77926103	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.758000	0.62220	2.629000	0.89072	0.555000	0.69702	CCC		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	22	1	0	0.000274275	0.004482	0.000311722	9	22				
ZFHX4	79776	broad.mit.edu	37	8	77767649	77767649	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:77767649G>T	ENST00000521891.2	+	10	8940	c.8492G>T	c.(8491-8493)gGa>gTa	p.G2831V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2786V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2786V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2805V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2786					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G2815V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAGTTCCGGAGATGTGAAA	0.488										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8356-8358)GGA>GTA		zinc finger homeodomain 4							61.0	62.0	61.0					8																	77767649		1940	4146	6086	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767649G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8492G>T	8.37:g.77767649G>T	ENSP00000430497:p.Gly2831Val	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G2831V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2786V	p.G2786V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8744	+			2786					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8357G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	8.580	0.881987	0.17467	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49432	0.78;0.83;0.8;0.79	5.25	4.37	0.52481	.	0.158082	0.29178	U	0.012902	T	0.39809	0.1092	L	0.29908	0.895	0.80722	D	1	B;B;B	0.25486	0.01;0.016;0.127	B;B;B	0.33121	0.032;0.071;0.158	T	0.20042	-1.0287	10	0.29301	T	0.29	.	14.3408	0.66624	0.0719:0.0:0.9281:0.0	.	2786;2786;2831	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2831;2815;2786;2786;2805	ENSP00000430497:G2831V;ENSP00000399605:G2786V;ENSP00000050961:G2786V;ENSP00000430848:G2805V	ENSP00000050961:G2786V	G	+	2	0	ZFHX4	77930204	1.000000	0.71417	0.140000	0.22221	0.050000	0.14768	3.682000	0.54656	1.420000	0.47138	0.561000	0.74099	GGA		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	29	1	0	0.000442599	0.006214	0.000499343	10	29				
MMP16	4325	broad.mit.edu	37	8	89086857	89086857	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:89086857C>A	ENST00000286614.6	-	7	1479	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	400					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D400Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AAATTCCCGTCGCTATTTTCA	0.413																																							uc003yeb.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1198-1200)GAC>TAC		matrix metalloproteinase 16 isoform 1							111.0	111.0	111.0					8																	89086857		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89086857C>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1198G>T	8.37:g.89086857C>A	ENSP00000286614:p.Asp400Tyr					MMP16_uc003yec.2_Missense_Mutation_p.D400Y	p.D400Y	NM_005941	NP_005932	P51512	MMP16_HUMAN			7	1480	-			400			Hemopexin-like 2.|Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1198G>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615882	0.87359	.	.	ENSG00000156103	ENST00000286614	T	0.09911	2.93	4.64	4.64	0.57946	Hemopexin/matrixin (2);	0.101764	0.64402	D	0.000003	T	0.34193	0.0889	M	0.73753	2.245	0.58432	D	0.999996	D;D	0.76494	0.999;0.998	D;D	0.71414	0.971;0.973	T	0.18681	-1.0329	10	0.87932	D	0	.	17.8943	0.88881	0.0:1.0:0.0:0.0	.	400;400	P51512-2;P51512	.;MMP16_HUMAN	Y	400	ENSP00000286614:D400Y	ENSP00000286614:D400Y	D	-	1	0	MMP16	89155973	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.280000	0.76307	0.650000	0.86243	GAC		0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		11	62	1	0	6.40141e-05	0.000978	7.49101e-05	11	62				
DECR1	1666	broad.mit.edu	37	8	91063968	91063968	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:91063968G>T	ENST00000220764.2	+	9	1036		c.e9+1		DECR1_ENST00000522161.1_Splice_Site	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial						cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCTGAGAAAGGTAATGCTTTT	0.328																																							uc003yek.1		NA																	1	Unknown(1)		lung(1)		0						c.e9+1		2,4-dienoyl CoA reductase 1 precursor							91.0	95.0	94.0					8																	91063968		2203	4300	6503	SO:0001630	splice_region_variant	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91063968G>T	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.948+1G>T	8.37:g.91063968G>T						DECR1_uc011lgc.1_Splice_Site_p.K307_splice|DECR1_uc011lgd.1_Splice_Site	p.K316_splice	NM_001359	NP_001350	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		9	1089	+								B7Z6B8|Q2M304|Q93085	Splice_Site	SNP	ENST00000220764.2	37	c.948_splice	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475733	0.44044	.	.	ENSG00000104325	ENST00000220764;ENST00000522161	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8034	0.96518	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DECR1	91133144	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	8.224000	0.89781	2.669000	0.90835	0.655000	0.94253	.		0.328	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1		Intron	13	27	1	0	1.05317e-09	0.00245	1.50035e-09	13	27				
C8orf37	157657	broad.mit.edu	37	8	96281413	96281413	+	Missense_Mutation	SNP	G	G	A	rs369471163		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:96281413G>A	ENST00000286688.5	-	1	16	c.5C>T	c.(4-6)gCg>gTg	p.A2V	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	2						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A2V(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CAGGTCCTCCGCCATCTTGAA	0.612											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003yho.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4-6)GCG>GTG		hypothetical protein LOC157657		G	VAL/ALA	0,4406		0,0,2203	109.0	106.0	107.0		5	3.6	1.0	8		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	C8orf37	NM_177965.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2/208	96281413	1,13005	2203	4300	6503	SO:0001583	missense	157657							g.chr8:96281413G>A	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.5C>T	8.37:g.96281413G>A	ENSP00000286688:p.Ala2Val		OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1319		p.A2V	NM_177965	NP_808880	Q96NL8	CH037_HUMAN			1	25	-	Breast(36;3.41e-05)		2						Missense_Mutation	SNP	ENST00000286688.5	37	c.5C>T	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432980	0.83776	0.0	1.16E-4	ENSG00000156172	ENST00000286688	T	0.78364	-1.17	4.46	3.56	0.40772	.	0.154003	0.44097	D	0.000491	D	0.85287	0.5662	M	0.66939	2.045	0.40669	D	0.982197	D	0.89917	1.0	D	0.71870	0.975	D	0.87228	0.2258	10	0.87932	D	0	-2.6262	13.0542	0.58971	0.0:0.1618:0.8382:0.0	.	2	Q96NL8	CH037_HUMAN	V	2	ENSP00000286688:A2V	ENSP00000286688:A2V	A	-	2	0	C8orf37	96350589	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	2.161000	0.42358	1.207000	0.43291	0.467000	0.42956	GCG		0.612	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		14	140	0	0	0	0.003163	0	14	140				
MATN2	4147	broad.mit.edu	37	8	99042728	99042728	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:99042728G>C	ENST00000520016.1	+	14	2519	c.2395G>C	c.(2395-2397)Gag>Cag	p.E799Q	MATN2_ENST00000521689.1_Missense_Mutation_p.E799Q|MATN2_ENST00000524308.1_Missense_Mutation_p.E758Q|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.E799Q|MATN2_ENST00000522025.2_Missense_Mutation_p.E515Q			O00339	MATN2_HUMAN	matrilin 2	799	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E799Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AAAAGCCATTGAGGAGGAACT	0.438																																							uc003yic.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2395-2397)GAG>CAG		matrilin 2 isoform a precursor							85.0	82.0	83.0					8																	99042728		1918	4124	6042	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99042728G>C	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2395G>C	8.37:g.99042728G>C	ENSP00000430487:p.Glu799Gln					MATN2_uc010mbh.1_Missense_Mutation_p.E758Q|MATN2_uc003yid.2_Missense_Mutation_p.E799Q|MATN2_uc003yie.1_Missense_Mutation_p.E799Q|MATN2_uc010mbi.1_Missense_Mutation_p.E632Q|MATN2_uc010mbj.1_Missense_Mutation_p.E160Q|RPL30_uc010mbk.1_Intron	p.E799Q	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		15	2626	+	Breast(36;1.43e-06)		799			VWFA 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.2395G>C	CCDS55264.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.16|19.16|19.16	3.772972|3.772972|3.772972	0.69992|0.69992|0.69992	.|.|.	.|.|.	ENSG00000132561|ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000519582|ENST00000518154	D;D;D;D;D|.|.	0.84146|.|.	-1.81;-1.81;-1.81;-1.81;-1.81|.|.	5.39|5.39|5.39	5.39|5.39|5.39	0.77823|0.77823|0.77823	von Willebrand factor, type A (3);|.|.	0.099140|.|.	0.44097|.|.	N|.|.	0.000499|.|.	T|T|.	0.72843|0.72843|.	0.3511|0.3511|.	L|L|L	0.58510|0.58510|0.58510	1.815|1.815|1.815	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B|.|.	0.25850|.|.	0.136;0.081;0.066;0.136|.|.	B;B;B;B|.|.	0.32090|.|.	0.14;0.14;0.086;0.14|.|.	T|T|.	0.69113|0.69113|.	-0.5231|-0.5231|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	-29.0518|-29.0518|-29.0518	19.4005|19.4005|19.4005	0.94627|0.94627|0.94627	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	758;799;799;799|.|.	C9JH87;E9PF03;O00339-2;O00339|.|.	.;.;.;MATN2_HUMAN|.|.	Q|F|S	799;799;758;758;515;799|54|581	ENSP00000429977:E799Q;ENSP00000254898:E799Q;ENSP00000430221:E758Q;ENSP00000429010:E515Q;ENSP00000430487:E799Q|.|.	ENSP00000254898:E799Q|.|.	E|L|X	+|+|+	1|3|2	0|2|2	MATN2|MATN2|MATN2	99111904|99111904|99111904	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.953000|0.953000|0.953000	0.61014|0.61014|0.61014	9.578000|9.578000|9.578000	0.98200|0.98200|0.98200	2.820000|2.820000|2.820000	0.97059|0.97059|0.97059	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|TTG|TGA		0.438	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			11	24	0	0	0	0.008291	0	11	24				
POP1	10940	broad.mit.edu	37	8	99169910	99169910	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:99169910G>A	ENST00000401707.2	+	16	2567	c.2486G>A	c.(2485-2487)gGc>gAc	p.G829D	POP1_ENST00000349693.3_Missense_Mutation_p.G829D	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	829					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.G829D(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGTCGGGGAGGCCGGCGAGCT	0.567																																							uc003yij.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2485-2487)GGC>GAC		processing of precursor 1							40.0	45.0	43.0					8																	99169910		2203	4299	6502	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99169910G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2486G>A	8.37:g.99169910G>A	ENSP00000385787:p.Gly829Asp					POP1_uc011lgv.1_Missense_Mutation_p.G829D|POP1_uc003yik.2_Missense_Mutation_p.G829D	p.G829D	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		16	2586	+	Breast(36;1.78e-06)		829					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.2486G>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	g	3.638	-0.074121	0.07184	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.35048	1.33;1.33	5.3	1.5	0.22942	.	1.060070	0.07384	N	0.887996	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30416	-0.9979	10	0.12430	T	0.62	-5.3961	6.2095	0.20621	0.0:0.5382:0.1246:0.3371	.	829	Q99575	POP1_HUMAN	D	829	ENSP00000385787:G829D;ENSP00000339529:G829D	ENSP00000339529:G829D	G	+	2	0	POP1	99239086	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.565000	0.23578	0.253000	0.21552	-0.234000	0.12200	GGC		0.567	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		20	39	0	0	0	0.001882	0	20	39				
RGS22	26166	broad.mit.edu	37	8	100994230	100994230	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:100994230C>G	ENST00000360863.6	-	22	3489	c.3295G>C	c.(3295-3297)Gag>Cag	p.E1099Q	RGS22_ENST00000523287.1_Missense_Mutation_p.E918Q|RGS22_ENST00000523437.1_Missense_Mutation_p.E1087Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1099	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E1099Q(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGGGCTTGCTCTACTGGAATG	0.388																																							uc003yjb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3295-3297)GAG>CAG		regulator of G-protein signaling 22							207.0	199.0	202.0					8																	100994230		1885	4105	5990	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100994230C>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3295G>C	8.37:g.100994230C>G	ENSP00000354109:p.Glu1099Gln					RGS22_uc003yja.1_Missense_Mutation_p.E918Q|RGS22_uc003yjc.1_Missense_Mutation_p.E1087Q	p.E1099Q	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		22	3490	-			1099			RGS 2.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.3295G>C	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256716	0.80246	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.01871	4.59;4.59;4.59	5.0	5.0	0.66597	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.129738	0.49305	D	0.000141	T	0.11793	0.0287	M	0.68593	2.085	0.34169	D	0.66957	D;D;D	0.76494	0.999;0.999;0.986	D;D;P	0.71184	0.972;0.972;0.844	T	0.02728	-1.1118	10	0.72032	D	0.01	.	18.3276	0.90259	0.0:1.0:0.0:0.0	.	1087;1099;918	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Q	1099;1086;918;1087	ENSP00000354109:E1099Q;ENSP00000429382:E918Q;ENSP00000428212:E1087Q	ENSP00000354109:E1099Q	E	-	1	0	RGS22	101063406	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	4.452000	0.60054	2.303000	0.77524	0.585000	0.79938	GAG		0.388	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		33	150	0	0	0	0.002836	0	33	150				
SPAG1	6674	broad.mit.edu	37	8	101232595	101232595	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:101232595G>A	ENST00000388798.2	+	13	1815	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	SPAG1_ENST00000251809.3_Missense_Mutation_p.V542M|SPAG1_ENST00000523302.1_Intron	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	542					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.V542M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GAAAGCTTATGTGGATTATAA	0.428																																							uc003yjh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1624-1626)GTG>ATG		sperm associated antigen 1							182.0	167.0	172.0					8																	101232595		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101232595G>A	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1624G>A	8.37:g.101232595G>A	ENSP00000373450:p.Val542Met					SPAG1_uc003yji.1_Missense_Mutation_p.V542M	p.V542M	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	13	1710	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	542			TPR 6.		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.1624G>A	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163756	0.78226	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.63744	-0.06;-0.06	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.110324	0.64402	D	0.000009	T	0.76227	0.3958	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77081	-0.2720	10	0.52906	T	0.07	-19.6608	13.2905	0.60269	0.0783:0.0:0.9217:0.0	.	542	Q07617	SPAG1_HUMAN	M	542	ENSP00000251809:V542M;ENSP00000373450:V542M	ENSP00000251809:V542M	V	+	1	0	SPAG1	101301771	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	7.514000	0.81750	2.469000	0.83416	0.655000	0.94253	GTG		0.428	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		6	101	0	0	0	0.001168	0	6	101				
NCALD	83988	broad.mit.edu	37	8	102705114	102705114	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:102705114T>C	ENST00000311028.3	-	6	767	c.389A>G	c.(388-390)aAg>aGg	p.K130R	NCALD_ENST00000395923.1_Missense_Mutation_p.K130R|NCALD_ENST00000220931.6_Missense_Mutation_p.K130R|NCALD_ENST00000521599.1_Missense_Mutation_p.K130R|NCALD_ENST00000519508.2_Missense_Mutation_p.K130R|NCALD_ENST00000522951.1_Missense_Mutation_p.K130R	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	130	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)	p.K130R(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GGAAACCATCTTATAGATTGC	0.453																																							uc003yke.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(388-390)AAG>AGG		neurocalcin delta							104.0	97.0	100.0					8																	102705114		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102705114T>C	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.389A>G	8.37:g.102705114T>C	ENSP00000310587:p.Lys130Arg					NCALD_uc003ykf.2_Missense_Mutation_p.K130R|NCALD_uc003ykg.2_Missense_Mutation_p.K130R|NCALD_uc003ykh.2_Missense_Mutation_p.K130R|NCALD_uc003yki.2_Missense_Mutation_p.K130R|NCALD_uc003ykj.2_Missense_Mutation_p.K130R|NCALD_uc003ykk.2_Missense_Mutation_p.K130R|NCALD_uc003ykl.2_Missense_Mutation_p.K130R	p.K130R	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		3	758	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		130			EF-hand 3.		P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.389A>G	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642898	0.67244	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000520690	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.28	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	N	0.17922	0.545	0.80722	D	1	B	0.11235	0.004	B	0.17979	0.02	T	0.56860	-0.7909	10	0.56958	D	0.05	.	14.9902	0.71381	0.0:0.0:0.0:1.0	.	130	P61601	NCALD_HUMAN	R	130	ENSP00000379256:K130R;ENSP00000310587:K130R;ENSP00000220931:K130R;ENSP00000428105:K130R;ENSP00000430476:K130R;ENSP00000428781:K130R;ENSP00000429255:K130R	ENSP00000220931:K130R	K	-	2	0	NCALD	102774290	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	1.954000	0.56735	0.459000	0.35465	AAG		0.453	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			17	61	0	0	0	0.006122	0	17	61				
PKHD1L1	93035	broad.mit.edu	37	8	110448582	110448582	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:110448582C>T	ENST00000378402.5	+	30	3625	c.3521C>T	c.(3520-3522)aCt>aTt	p.T1174I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1174	IPT/TIG 5.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T1176I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTCTACTGACTTTATCTGGA	0.318										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3520-3522)ACT>ATT		fibrocystin L precursor							96.0	96.0	96.0					8																	110448582		1833	4099	5932	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110448582C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3521C>T	8.37:g.110448582C>T	ENSP00000367655:p.Thr1174Ile	HNSCC(38;0.096)					p.T1174I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		30	3625	+			1174			Extracellular (Potential).|IPT/TIG 5.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3521C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021782	0.75275	.	.	ENSG00000205038	ENST00000378402	D	0.83506	-1.73	5.44	5.44	0.79542	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89438	0.6715	M	0.86805	2.84	0.35253	D	0.77887	P	0.45902	0.868	P	0.51999	0.687	D	0.93604	0.6933	10	0.56958	D	0.05	.	14.7764	0.69734	0.0:1.0:0.0:0.0	.	1174	Q86WI1	PKHL1_HUMAN	I	1174	ENSP00000367655:T1174I	ENSP00000367655:T1174I	T	+	2	0	PKHD1L1	110517758	0.982000	0.34865	0.999000	0.59377	0.943000	0.58893	2.798000	0.47884	2.545000	0.85829	0.655000	0.94253	ACT		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		23	74	0	0	0	0.003954	0	23	74				
PKHD1L1	93035	broad.mit.edu	37	8	110464485	110464485	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:110464485C>A	ENST00000378402.5	+	42	6587	c.6483C>A	c.(6481-6483)atC>atA	p.I2161I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2161	IPT/TIG 14.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I2163I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTCCACATCAGAGGTGTCG	0.453										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(6481-6483)ATC>ATA		fibrocystin L precursor							117.0	111.0	113.0					8																	110464485		1940	4145	6085	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110464485C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6483C>A	8.37:g.110464485C>A		HNSCC(38;0.096)					p.I2161I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		42	6587	+			2161			IPT/TIG 14.|Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.6483C>A	CCDS47911.1																																																																																				0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		27	52	1	0	9.65021e-13	0.002096	1.48465e-12	27	52				
PKHD1L1	93035	broad.mit.edu	37	8	110497320	110497320	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:110497320G>C	ENST00000378402.5	+	58	9728	c.9624G>C	c.(9622-9624)caG>caC	p.Q3208H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3208					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q3210H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTCCACCAGACAGAAACAA	0.318										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9622-9624)CAG>CAC		fibrocystin L precursor							87.0	84.0	85.0					8																	110497320		1821	4074	5895	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110497320G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9624G>C	8.37:g.110497320G>C	ENSP00000367655:p.Gln3208His	HNSCC(38;0.096)					p.Q3208H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		58	9728	+			3208			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9624G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170119	0.38315	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85484	-1.99;-1.99	5.3	2.49	0.30216	.	0.072433	0.56097	D	0.000035	D	0.83184	0.5199	M	0.74881	2.28	0.29290	N	0.869413	P	0.34462	0.454	B	0.37601	0.254	T	0.78135	-0.2322	10	0.41790	T	0.15	.	9.0248	0.36222	0.2399:0.0:0.7601:0.0	.	3208	Q86WI1	PKHL1_HUMAN	H	3208;136	ENSP00000367655:Q3208H;ENSP00000437376:Q136H	ENSP00000367655:Q3208H	Q	+	3	2	PKHD1L1	110566496	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.332000	0.52083	1.227000	0.43598	-0.251000	0.11542	CAG		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		26	48	0	0	0	0.00333	0	26	48				
CSMD3	114788	broad.mit.edu	37	8	113301627	113301627	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:113301627C>A	ENST00000297405.5	-	57	9359	c.9115G>T	c.(9115-9117)Ggc>Tgc	p.G3039C	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2999C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2969C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2870C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3039	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2999C(1)|p.G3039C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCAATGGCCATTCAATTGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9115-9117)GGC>TGC		CUB and Sushi multiple domains 3 isoform 1							139.0	132.0	134.0					8																	113301627		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301627C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9115G>T	8.37:g.113301627C>A	ENSP00000297405:p.Gly3039Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2241C|CSMD3_uc003ynt.2_Missense_Mutation_p.G2999C|CSMD3_uc011lhx.1_Missense_Mutation_p.G2870C	p.G3039C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9274	-			3039			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9115G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495348	0.85069	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.91895	0.7434	H	0.99117	4.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.99;0.987	D	0.94247	0.7490	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2870;3039;2999	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2999;3039;2309;2870;2969	ENSP00000345799:G2999C;ENSP00000297405:G3039C;ENSP00000341558:G2309C;ENSP00000412263:G2870C;ENSP00000343124:G2969C	ENSP00000297405:G3039C	G	-	1	0	CSMD3	113370803	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.066000	0.71185	2.941000	0.99782	0.655000	0.94253	GGC		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		60	95	1	0	3.39796e-24	0.00361	6.05655e-24	60	95				
CSMD3	114788	broad.mit.edu	37	8	113668414	113668414	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:113668414A>T	ENST00000297405.5	-	18	3217	c.2973T>A	c.(2971-2973)cgT>cgA	p.R991R	CSMD3_ENST00000343508.3_Silent_p.R951R|CSMD3_ENST00000352409.3_Silent_p.R991R|CSMD3_ENST00000455883.2_Silent_p.R887R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	991	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R991R(1)|p.R951R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTATTGGAACGACTGTTGT	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2971-2973)CGT>CGA		CUB and Sushi multiple domains 3 isoform 1							62.0	69.0	66.0					8																	113668414		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113668414A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2973T>A	8.37:g.113668414A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.R263R|CSMD3_uc003ynt.2_Silent_p.R951R|CSMD3_uc011lhx.1_Silent_p.R887R	p.R991R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	3132	-			991			Extracellular (Potential).|CUB 5.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2973T>A	CCDS6315.1																																																																																				0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	76	0	0	0	0.007413	0	17	76				
KLHL38	340359	broad.mit.edu	37	8	124664765	124664765	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:124664765G>T	ENST00000325995.7	-	1	425	c.402C>A	c.(400-402)agC>agA	p.S134R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	134								p.S134R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGGCAGTTGCTGGGGGCCA	0.582																																							uc003yqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(400-402)AGC>AGA		kelch-like 38							45.0	48.0	47.0					8																	124664765		1962	4142	6104	SO:0001583	missense	340359							g.chr8:124664765G>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.402C>A	8.37:g.124664765G>T	ENSP00000321475:p.Ser134Arg						p.S134R	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	426	-			134					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.402C>A	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	3.322	-0.138629	0.06669	.	.	ENSG00000175946	ENST00000325995	T	0.74002	-0.8	5.56	4.68	0.58851	.	0.470590	0.28119	N	0.016525	T	0.79873	0.4521	M	0.93016	3.37	0.29540	N	0.852132	P	0.37985	0.613	B	0.41619	0.361	T	0.79045	-0.1964	10	0.44086	T	0.13	.	8.3109	0.32071	0.0726:0.0:0.6657:0.2617	.	134	Q2WGJ6	KLH38_HUMAN	R	134	ENSP00000321475:S134R	ENSP00000321475:S134R	S	-	3	2	KLHL38	124733946	0.996000	0.38824	1.000000	0.80357	0.017000	0.09413	0.252000	0.18278	2.630000	0.89119	0.561000	0.74099	AGC		0.582	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			25	34	1	0	8.24728e-16	0.004656	1.35403e-15	25	34				
ASAP1	50807	broad.mit.edu	37	8	131414157	131414157	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:131414157A>T	ENST00000518721.1	-	2	260	c.33T>A	c.(31-33)ttT>ttA	p.F11L	ASAP1_ENST00000520625.1_5'UTR|ASAP1_ENST00000357668.1_Missense_Mutation_p.F11L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	11					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.F11L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTCTCGACGAAAAACTGGAGA	0.517																																							uc003yta.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(31-33)TTT>TTA		development and differentiation enhancing factor							77.0	74.0	75.0					8																	131414157		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131414157A>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.33T>A	8.37:g.131414157A>T	ENSP00000429900:p.Phe11Leu					ASAP1_uc011liw.1_5'UTR	p.F11L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			1	61	-			11					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.33T>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191384	0.58017	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.05258	3.47;3.47	6.03	6.03	0.97812	.	0.400674	0.23442	N	0.048132	T	0.09555	0.0235	N	0.22421	0.69	0.37822	D	0.928404	P	0.49447	0.924	P	0.57776	0.827	T	0.09292	-1.0681	10	0.02654	T	1	.	14.5122	0.67794	1.0:0.0:0.0:0.0	.	11	Q9ULH1	ASAP1_HUMAN	L	11	ENSP00000350297:F11L;ENSP00000429900:F11L	ENSP00000344591:F11L	F	-	3	2	ASAP1	131483339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.683000	0.68189	2.313000	0.78055	0.454000	0.30748	TTT		0.517	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		43	80	0	0	0	0.00361	0	43	80				
TG	7038	broad.mit.edu	37	8	133885314	133885314	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:133885314G>C	ENST00000220616.4	+	5	526	c.486G>C	c.(484-486)agG>agC	p.R162S	TG_ENST00000377869.1_Missense_Mutation_p.R162S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	162	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R162S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TAGGTCCAAGGAGCTGTGAAA	0.453																																							uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(484-486)AGG>AGC		thyroglobulin precursor							71.0	68.0	69.0					8																	133885314		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133885314G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.486G>C	8.37:g.133885314G>C	ENSP00000220616:p.Arg162Ser						p.R162S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	5	527	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	162			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.486G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695825	0.30052	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62232	0.04;0.04	5.84	4.95	0.65309	Thyroglobulin type-1 (4);	0.244901	0.35555	N	0.003123	T	0.48768	0.1518	L	0.44542	1.39	0.28949	N	0.890525	P	0.40144	0.704	B	0.34093	0.175	T	0.47535	-0.9110	10	0.12766	T	0.61	.	14.3316	0.66561	0.072:0.0:0.928:0.0	.	162	P01266	THYG_HUMAN	S	162	ENSP00000367100:R162S;ENSP00000220616:R162S	ENSP00000220616:R162S	R	+	3	2	TG	133954496	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	2.174000	0.42482	2.768000	0.95171	0.561000	0.74099	AGG		0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		16	30	0	0	0	0.00499	0	16	30				
ZFAT	57623	broad.mit.edu	37	8	135524846	135524846	+	Splice_Site	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:135524846T>C	ENST00000377838.3	-	14	3409		c.e14-2		ZFAT_ENST00000517307.1_Splice_Site|ZFAT_ENST00000523399.1_Splice_Site|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Splice_Site|ZFAT_ENST00000520727.1_Splice_Site|ZFAT_ENST00000429442.2_Splice_Site	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing						hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGTTGCTGTCTAAATAAAAAC	0.468																																							uc003yup.2		NA																	1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e14-1		zinc finger protein 406 isoform ZFAT-1							100.0	104.0	103.0					8																	135524846		1911	4118	6029	SO:0001630	splice_region_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524846T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3235-2A>G	8.37:g.135524846T>C						ZFAT_uc011ljj.1_Splice_Site_p.T198_splice|ZFAT_uc003yun.2_Splice_Site_p.T1067_splice|ZFAT_uc003yuo.2_Splice_Site_p.T1067_splice|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_Splice_Site|ZFAT_uc003yuq.2_Splice_Site_p.T1067_splice|ZFAT_uc010mej.2_Splice_Site_p.T1017_splice	p.T1079_splice	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3410	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)							B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Splice_Site	SNP	ENST00000377838.3	37	c.3235_splice	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092444	0.55968	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5078	0.55991	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFAT	135594028	1.000000	0.71417	0.978000	0.43139	0.829000	0.46940	3.627000	0.54252	2.140000	0.66376	0.460000	0.39030	.		0.468	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	Intron	7	135	0	0	0	0.001984	0	7	135				
FAM135B	51059	broad.mit.edu	37	8	139158255	139158255	+	Nonsense_Mutation	SNP	C	C	A	rs267601783		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:139158255C>A	ENST00000395297.1	-	15	3657	c.3487G>T	c.(3487-3489)Gaa>Taa	p.E1163*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1163								p.E1163*(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCCAGTTCTATGAAAGTC	0.448										HNSCC(54;0.14)																													uc003yuy.2		NA																	4	Substitution - Nonsense(4)		large_intestine(2)|lung(2)	ovary(7)|skin(2)	9						c.(3487-3489)GAA>TAA		hypothetical protein LOC51059							88.0	93.0	92.0					8																	139158255		2203	4300	6503	SO:0001587	stop_gained	51059							g.chr8:139158255C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3487G>T	8.37:g.139158255C>A	ENSP00000378710:p.Glu1163*	HNSCC(54;0.14)				FAM135B_uc003yux.2_Nonsense_Mutation_p.E1064*|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Nonsense_Mutation_p.E725*|FAM135B_uc003yvb.2_Missense_Mutation_p.R690I	p.E1163*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		15	3658	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1163					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.3487G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	44	11.161224	0.99525	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.81	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.7909	15.404	0.74863	0.1401:0.8599:0.0:0.0	.	.	.	.	X	1163	.	ENSP00000378710:E1163X	E	-	1	0	FAM135B	139227437	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.064000	0.71169	1.433000	0.47394	0.655000	0.94253	GAA		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		13	142	1	0	2.32078e-09	0.003163	3.2759e-09	13	142				
KCNK9	51305	broad.mit.edu	37	8	140631039	140631039	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:140631039G>T	ENST00000520439.1	-	2	650	c.587C>A	c.(586-588)aCg>aAg	p.T196K	KCNK9_ENST00000303015.1_Missense_Mutation_p.T196K|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	196					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.T196K(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GGTAGTCAACGTGATGAAGCA	0.577																																							uc003yvf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(586-588)ACG>AAG		potassium channel, subfamily K, member 9							85.0	84.0	84.0					8																	140631039		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631039G>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.587C>A	8.37:g.140631039G>T	ENSP00000430676:p.Thr196Lys					KCNK9_uc003yvg.1_Missense_Mutation_p.T196K|KCNK9_uc003yve.1_RNA	p.T196K	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	651	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	196					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.587C>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544837	0.86022	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.47177	0.85;0.85;0.85	5.85	5.85	0.93711	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89371	0.3675	10	0.87932	D	0	.	19.1531	0.93496	0.0:0.0:1.0:0.0	.	196	Q9NPC2	KCNK9_HUMAN	K	196	ENSP00000429847:T196K;ENSP00000302166:T196K;ENSP00000430676:T196K	ENSP00000302166:T196K	T	-	2	0	KCNK9	140700221	1.000000	0.71417	0.981000	0.43875	0.865000	0.49528	9.632000	0.98428	2.753000	0.94483	0.655000	0.94253	ACG		0.577	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		33	40	1	0	8.4185e-14	0.002445	1.32697e-13	33	40				
CYP11B2	1585	broad.mit.edu	37	8	143994039	143994039	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:143994039G>T	ENST00000323110.2	-	8	1307	c.1305C>A	c.(1303-1305)ggC>ggA	p.G435G		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	435			G -> S (in dbSNP:rs4545). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10391210}.		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.G435G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGAAGTTCCTGCCGGAGCCCC	0.627									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1303-1305)GGC>GGA		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						73.0	82.0	79.0					8																	143994039		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994039G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1305C>A	8.37:g.143994039G>T							p.G435G	NM_000498	NP_000489	P19099	C11B2_HUMAN			8	1308	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		435					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.1305C>A	CCDS6393.1																																																																																				0.627	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			29	51	1	0	1.32143e-28	0.00632	2.42551e-28	29	51				
ZFP41	286128	broad.mit.edu	37	8	144332450	144332450	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:144332450G>T	ENST00000330701.4	+	2	806	c.437G>T	c.(436-438)gGg>gTg	p.G146V	ZFP41_ENST00000522452.1_Missense_Mutation_p.G146V|ZFP41_ENST00000520584.1_Missense_Mutation_p.G146V	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	146					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G146V(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TTCAAATGCGGGGAGTGCGGG	0.582																																							uc003yxw.2		NA																	1	Substitution - Missense(1)	p.G146G(1)	lung(1)	ovary(1)	1						c.(436-438)GGG>GTG		zinc finger protein 41 homolog							112.0	111.0	111.0					8																	144332450		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332450G>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.437G>T	8.37:g.144332450G>T	ENSP00000327427:p.Gly146Val					ZFP41_uc003yxv.2_RNA	p.G146V	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	795	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		146			C2H2-type 3.		D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.437G>T	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236096	0.22626	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.07444	3.19;3.19;3.19	3.2	0.263	0.15602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	L	0.38733	1.17	0.09310	N	1	B	0.30211	0.273	B	0.28709	0.093	T	0.37776	-0.9691	9	0.72032	D	0.01	-3.3754	2.7247	0.05210	0.3734:0.0:0.419:0.2076	.	146	Q8N8Y5	ZFP41_HUMAN	V	146	ENSP00000430465:G146V;ENSP00000327427:G146V;ENSP00000428966:G146V	ENSP00000327427:G146V	G	+	2	0	ZFP41	144403825	0.000000	0.05858	0.000000	0.03702	0.757000	0.42996	-1.346000	0.02634	0.186000	0.20125	0.461000	0.40582	GGG		0.582	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		35	82	1	0	6.53348e-20	0.003755	1.12294e-19	35	82				
FAM83H	286077	broad.mit.edu	37	8	144810181	144810181	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr8:144810181C>G	ENST00000388913.3	-	5	1575	c.1450G>C	c.(1450-1452)Gcg>Ccg	p.A484P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	484					biomineral tissue development (GO:0031214)			p.A484P(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCGGGTCCGCGAAACCCGCG	0.731																																							uc003yzk.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1450-1452)GCG>CCG		FAM83H							10.0	15.0	14.0					8																	144810181		1859	4069	5928	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810181C>G	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1450G>C	8.37:g.144810181C>G	ENSP00000373565:p.Ala484Pro					FAM83H_uc010mfk.1_RNA	p.A484P	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1519	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		484					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.1450G>C	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	N	3.173	-0.169556	0.06461	.	.	ENSG00000180921	ENST00000388913	T	0.15487	2.42	4.45	-1.1	0.09872	.	1.486090	0.04437	U	0.370195	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34875	-0.9811	10	0.35671	T	0.21	.	7.1657	0.25689	0.0:0.2414:0.5062:0.2524	.	484	Q6ZRV2	FA83H_HUMAN	P	484	ENSP00000373565:A484P	ENSP00000373565:A484P	A	-	1	0	FAM83H	144882169	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.479000	0.06567	-0.671000	0.05274	0.455000	0.32223	GCG		0.731	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		10	15	0	0	0	0.008291	0	10	15				
SMARCA2	6595	broad.mit.edu	37	9	2110342	2110342	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:2110342A>T	ENST00000382203.1	+	24	3590	c.3381A>T	c.(3379-3381)agA>agT	p.R1127S	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1127S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1127S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1127S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1127	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R1127S(1)|p.R1123S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAGCACAAGAGCTGGTGGCC	0.502																																							uc003zhc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(3379-3381)AGA>AGT		SWI/SNF-related matrix-associated							87.0	80.0	83.0					9																	2110342		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2110342A>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3381A>T	9.37:g.2110342A>T	ENSP00000371638:p.Arg1127Ser					SMARCA2_uc003zhd.2_Missense_Mutation_p.R1127S|SMARCA2_uc010mha.2_Missense_Mutation_p.R1060S	p.R1127S	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	24	3480	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1127			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3381A>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866436	0.51588	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.55	-1.24	0.09435	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.991	D;D;D	0.97110	1.0;0.985;0.991	T	0.79638	-0.1720	10	0.87932	D	0	-8.4649	1.7582	0.02986	0.3965:0.1372:0.3324:0.1339	.	728;1127;1127	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	S	1127	ENSP00000265773:R1127S;ENSP00000349788:R1127S;ENSP00000371638:R1127S;ENSP00000371629:R1127S	ENSP00000265773:R1127S	R	+	3	2	SMARCA2	2100342	0.152000	0.22762	0.560000	0.28344	0.485000	0.33311	-0.267000	0.08619	-0.136000	0.11475	-0.408000	0.06270	AGA		0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		25	73	0	0	0	0.00333	0	25	73				
RIC1	57589	broad.mit.edu	37	9	5754900	5754900	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:5754900G>A	ENST00000414202.2	+	15	1853	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	KIAA1432_ENST00000449720.2_Silent_p.A438A|KIAA1432_ENST00000418622.3_Silent_p.A475A|KIAA1432_ENST00000251879.6_Silent_p.A554A|KIAA1432_ENST00000381532.2_Silent_p.A475A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.A475A(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGTCCTTGCGTGTTATAACA	0.289																																							uc003zji.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1423-1425)GCG>GCA		connexin 43-interacting protein 150 isoform a							87.0	89.0	88.0					9																	5754900		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5754900G>A																												ENST00000414202.2:c.1662G>A	9.37:g.5754900G>A						KIAA1432_uc003zjh.2_Silent_p.A475A|KIAA1432_uc003zjl.3_Silent_p.A438A|KIAA1432_uc003zjj.1_Silent_p.A17A	p.A475A	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	14	1518	+		Acute lymphoblastic leukemia(23;0.154)	554						Silent	SNP	ENST00000414202.2	37	c.1425G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	9.573	1.121450	0.20877	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.14	-5.7	0.02421	.	.	.	.	.	T	0.49150	0.1540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48969	-0.8987	4	.	.	.	-14.2637	7.4293	0.27118	0.3717:0.23:0.3983:0.0	.	.	.	.	M	446	.	.	V	+	1	0	KIAA1432	5744900	0.195000	0.23338	0.871000	0.34182	0.950000	0.60333	-0.309000	0.08145	-1.483000	0.01858	-0.966000	0.02617	GTG		0.289	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			5	81	0	0	0	0.001984	0	5	81				
PTPRD	5789	broad.mit.edu	37	9	8518099	8518099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:8518099G>T	ENST00000381196.4	-	18	1835	c.1292C>A	c.(1291-1293)tCg>tAg	p.S431*	PTPRD_ENST00000537002.1_Nonsense_Mutation_p.S428*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.S418*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.S418*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.S431*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.S431*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.S421*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.S431*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.S431*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.S421*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.S428*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S431*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTGGTCGAACTCAACAT	0.502										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Nonsense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1291-1293)TCG>TAG		protein tyrosine phosphatase, receptor type, D							220.0	202.0	208.0					9																	8518099		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518099G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1292C>A	9.37:g.8518099G>T	ENSP00000370593:p.Ser431*	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Nonsense_Mutation_p.S431*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.S431*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.S425*|PTPRD_uc003zks.2_Nonsense_Mutation_p.S421*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.S431*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.S418*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.S431*|PTPRD_uc003zko.2_Nonsense_Mutation_p.S428*	p.S431*	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	2003	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	431			Fibronectin type-III 2.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.1292C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741604	0.89573	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.31	5.31	0.75309	.	0.209710	0.42294	D	0.000736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9787	0.92747	0.0:0.0:1.0:0.0	.	.	.	.	X	431;431;418;418;431;421;428;428;431;431;431;421	.	.	S	-	2	0	PTPRD	8508099	1.000000	0.71417	0.293000	0.24932	0.013000	0.08279	6.609000	0.74173	2.484000	0.83849	0.467000	0.42956	TCG		0.502	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	203	1	0	0.000157383	0.00308	0.000180738	8	203				
TYRP1	7306	broad.mit.edu	37	9	12704606	12704606	+	Missense_Mutation	SNP	G	G	T	rs368775669		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:12704606G>T	ENST00000388918.5	+	6	1291	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	TYRP1_ENST00000381137.2_Missense_Mutation_p.G97W|TYRP1_ENST00000381136.2_Missense_Mutation_p.G98W|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	388					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G388W(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GAATGGAACAGGGGGACAAAC	0.468									Oculocutaneous Albinism																														uc003zkv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1162-1164)GGG>TGG		tyrosinase-related protein 1 precursor							111.0	95.0	100.0					9																	12704606		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous_Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12704606G>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1162G>T	9.37:g.12704606G>T	ENSP00000373570:p.Gly388Trp						p.G388W	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	6	1340	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	388			Lumenal, melanosome (Potential).		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.1162G>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444504	0.83993	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98849	-5.18;-5.18;-5.18	5.53	5.53	0.82687	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99032	0.9669	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99883	1.1117	10	0.66056	D	0.02	-7.3781	19.4694	0.94956	0.0:0.0:1.0:0.0	.	388	P17643	TYRP1_HUMAN	W	97;388;98	ENSP00000370529:G97W;ENSP00000373570:G388W;ENSP00000370528:G98W	ENSP00000370528:G98W	G	+	1	0	TYRP1	12694606	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.378000	0.97191	2.587000	0.87381	0.591000	0.81541	GGG		0.468	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		38	93	1	0	6.19805e-25	0.005524	1.11118e-24	38	93				
MPDZ	8777	broad.mit.edu	37	9	13150681	13150681	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:13150681T>A	ENST00000319217.7	-	25	3706	c.3459A>T	c.(3457-3459)gaA>gaT	p.E1153D	MPDZ_ENST00000538841.1_Missense_Mutation_p.E45D|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1167D|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1153D|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1153D|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1153D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1153	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.E1153D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCTCCAGAGTTCCACCCTAA	0.393																																							uc010mia.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(3457-3459)GAA>GAT		multiple PDZ domain protein							54.0	50.0	51.0					9																	13150681		1848	4092	5940	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13150681T>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3459A>T	9.37:g.13150681T>A	ENSP00000320006:p.Glu1153Asp					MPDZ_uc010mhx.2_Missense_Mutation_p.E45D|MPDZ_uc011lmm.1_Missense_Mutation_p.E45D|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.E1153D|MPDZ_uc010mhz.2_Missense_Mutation_p.E1153D|MPDZ_uc011lmn.1_Missense_Mutation_p.E1153D|MPDZ_uc003zlb.3_Missense_Mutation_p.E1153D	p.E1153D	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	24	3516	-			1153			PDZ 7.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3459A>T		.	.	.	.	.	.	.	.	.	.	T	14.48	2.546942	0.45383	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359;ENST00000542239	T;T;T;T;T;T;T;T;T;T;T	0.51071	2.67;2.62;2.62;2.53;2.57;2.59;2.64;2.67;2.63;0.72;0.75	5.72	3.37	0.38596	.	0.000000	0.46758	D	0.000272	T	0.51770	0.1694	L	0.33339	1.005	0.80722	D	1	B;B;B;D;B	0.76494	0.339;0.096;0.291;0.999;0.291	P;B;B;D;B	0.80764	0.554;0.352;0.419;0.994;0.419	T	0.43702	-0.9375	10	0.32370	T	0.25	.	8.5089	0.33204	0.0:0.2461:0.0:0.7539	.	1153;45;1153;1103;1153	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	D	1153;1153;1153;159;45;1153;1153;1153;1103;1167;45;45	ENSP00000320006:E1153D;ENSP00000439807:E1153D;ENSP00000370410:E1153D;ENSP00000444230:E159D;ENSP00000444717:E45D;ENSP00000444151:E1153D;ENSP00000415208:E1153D;ENSP00000370403:E1153D;ENSP00000446358:E1167D;ENSP00000389705:E45D;ENSP00000443672:E45D	ENSP00000320006:E1153D	E	-	3	2	MPDZ	13140681	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	2.039000	0.41193	0.995000	0.38917	-0.297000	0.09499	GAA		0.393	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		8	59	0	0	0	0.00308	0	8	59				
CER1	9350	broad.mit.edu	37	9	14720334	14720334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:14720334G>T	ENST00000380911.3	-	2	602	c.558C>A	c.(556-558)tgC>tgA	p.C186*		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	186	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.C186*(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ATTTCCCAAAGCAAAGGTTGT	0.438																																							uc003zlj.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(556-558)TGC>TGA		cerberus 1 precursor							82.0	71.0	74.0					9																	14720334		2203	4300	6503	SO:0001587	stop_gained	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720334G>T	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.558C>A	9.37:g.14720334G>T	ENSP00000370297:p.Cys186*						p.C186*	NM_005454	NP_005445	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	603	-			186			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Nonsense_Mutation	SNP	ENST00000380911.3	37	c.558C>A	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059032	0.93846	.	.	ENSG00000147869	ENST00000380911	.	.	.	5.52	4.62	0.57501	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7525	11.4475	0.50131	0.1574:0.0:0.8426:0.0	.	.	.	.	X	186	.	ENSP00000370297:C186X	C	-	3	2	CER1	14710334	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.529000	0.23019	1.472000	0.48140	0.655000	0.94253	TGC		0.438	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		11	58	1	0	1.08611e-07	0.000978	1.42471e-07	11	58				
HAUS6	54801	broad.mit.edu	37	9	19078172	19078172	+	Splice_Site	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:19078172A>C	ENST00000380502.3	-	10	1659		c.e10+1		HAUS6_ENST00000380496.1_Splice_Site	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACATTACTTACTGGAGTCCA	0.433																																							uc003znk.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e10+1		HAUS augmin-like complex, subunit 6							85.0	80.0	82.0					9																	19078172		2203	4300	6503	SO:0001630	splice_region_variant	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19078172A>C	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1191+1T>G	9.37:g.19078172A>C						HAUS6_uc011lmz.1_Splice_Site_p.P117_splice|HAUS6_uc003znl.1_Splice_Site_p.P261_splice|HAUS6_uc003znm.1_Splice_Site_p.P152_splice	p.P397_splice	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			10	1444	-								B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Splice_Site	SNP	ENST00000380502.3	37	c.1191_splice	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278171	0.23307	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9558	0.52981	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAUS6	19068172	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	5.280000	0.65603	1.776000	0.52262	0.260000	0.18958	.		0.433	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	Intron	27	57	0	0	0	0.007291	0	27	57				
DENND4C	55667	broad.mit.edu	37	9	19352178	19352178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:19352178G>T	ENST00000380432.2	+	20	3781	c.3748G>T	c.(3748-3750)Gag>Tag	p.E1250*	DENND4C_ENST00000434457.2_Nonsense_Mutation_p.E1535*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.E1486*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1250					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E1250*(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTGTGCAATGGAGGTAAAAGT	0.358																																							uc003znq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3748-3750)GAG>TAG		DENN/MADD domain containing 4C							108.0	105.0	106.0					9																	19352178		2203	4300	6503	SO:0001587	stop_gained	55667					integral to membrane		g.chr9:19352178G>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3748G>T	9.37:g.19352178G>T	ENSP00000369797:p.Glu1250*					DENND4C_uc011lnc.1_Nonsense_Mutation_p.E580*|DENND4C_uc011lnd.1_Nonsense_Mutation_p.E538*|DENND4C_uc003znr.2_Nonsense_Mutation_p.E538*|DENND4C_uc003zns.2_Nonsense_Mutation_p.E432*|DENND4C_uc003znt.2_Nonsense_Mutation_p.E432*	p.E1250*	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			20	3781	+			1250					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37	c.3748G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.251662	0.98164	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024;ENST00000380424	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.5056	18.572	0.91138	0.0:0.0:1.0:0.0	.	.	.	.	X	1250;723;432;580;723;432;247;121	.	ENSP00000305795:E723X	E	+	1	0	DENND4C	19342178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.476000	0.90421	2.369000	0.80426	0.655000	0.94253	GAG		0.358	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		18	44	1	0	1.67942e-08	0.006122	2.29485e-08	18	44				
FOCAD	54914	broad.mit.edu	37	9	20907241	20907241	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:20907241G>T	ENST00000380249.1	+	24	3082	c.2718G>T	c.(2716-2718)caG>caT	p.Q906H	FOCAD_ENST00000605086.1_Splice_Site_p.Q342H|FOCAD_ENST00000338382.6_Splice_Site_p.Q906H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	906						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.Q906H(1)									CCATTTTACAGGTAATGAAAC	0.403																																							uc003zog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|kidney(1)	10						c.(2716-2718)CAG>CAT		hypothetical protein LOC54914							146.0	142.0	143.0					9																	20907241		2203	4300	6503	SO:0001630	splice_region_variant	54914					integral to membrane	binding	g.chr9:20907241G>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2718+1G>T	9.37:g.20907241G>T						KIAA1797_uc003zoh.1_Missense_Mutation_p.Q342H	p.Q906H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	24	3081	+			906					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2718G>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825241	0.71143	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08634	3.07;3.07	5.67	4.77	0.60923	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.58101	1.795	0.58432	D	0.999997	D	0.67145	0.996	P	0.59703	0.862	T	0.00446	-1.1734	10	0.87932	D	0	-29.3519	12.4453	0.55647	0.0781:0.0:0.9219:0.0	.	906	Q5VW36	K1797_HUMAN	H	906	ENSP00000369599:Q906H;ENSP00000344307:Q906H	ENSP00000344307:Q906H	Q	+	3	2	KIAA1797	20897241	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.333000	0.72939	1.396000	0.46663	0.585000	0.79938	CAG		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Missense_Mutation	59	184	1	0	4.13886e-29	0.00361	7.61511e-29	59	184				
FOCAD	54914	broad.mit.edu	37	9	20953055	20953055	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:20953055G>C	ENST00000380249.1	+	37	4487	c.4123G>C	c.(4123-4125)Gga>Cga	p.G1375R	FOCAD_ENST00000605086.1_Missense_Mutation_p.G811R|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1375R	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1375						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.G1375R(2)									CATTACAGGAGGAAAAAAAGG	0.363																																							uc003zog.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(8)|breast(1)|kidney(1)	10						c.(4123-4125)GGA>CGA		hypothetical protein LOC54914							113.0	111.0	111.0					9																	20953055		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20953055G>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4123G>C	9.37:g.20953055G>C	ENSP00000369599:p.Gly1375Arg					KIAA1797_uc003zoh.1_Missense_Mutation_p.G811R	p.G1375R	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	37	4486	+			1375					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4123G>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331723	0.81690	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.30714	1.52;1.52	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59322	-0.7476	10	0.87932	D	0	-29.1539	19.4308	0.94765	0.0:0.0:1.0:0.0	.	1375	Q5VW36	K1797_HUMAN	R	1375	ENSP00000369599:G1375R;ENSP00000344307:G1375R	ENSP00000344307:G1375R	G	+	1	0	KIAA1797	20943055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.856000	0.75450	2.885000	0.99019	0.655000	0.94253	GGA		0.363	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		9	45	0	0	0	0.008291	0	9	45				
FOCAD	54914	broad.mit.edu	37	9	20986465	20986465	+	Splice_Site	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:20986465G>T	ENST00000380249.1	+	42	5270		c.e42+1		FOCAD_ENST00000605086.1_Splice_Site|FOCAD_ENST00000338382.6_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.?(1)									GCCAATACGGGTGAGGACACC	0.478																																							uc003zog.1		NA																	1	Unknown(1)		lung(1)	ovary(8)|breast(1)|kidney(1)	10						c.e42+1		hypothetical protein LOC54914							86.0	65.0	72.0					9																	20986465		2203	4300	6503	SO:0001630	splice_region_variant	54914					integral to membrane	binding	g.chr9:20986465G>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4906+1G>T	9.37:g.20986465G>T						KIAA1797_uc003zoh.1_Splice_Site_p.G1072_splice	p.G1636_splice	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	42	5269	+								D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Splice_Site	SNP	ENST00000380249.1	37	c.4906_splice	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664072	0.67700	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1797	20976465	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.537000	0.82033	2.616000	0.88540	0.557000	0.71058	.		0.478	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Intron	4	20	1	0	0.00909568	0.009096	0.00983662	4	20				
IFNA10	3446	broad.mit.edu	37	9	21206650	21206650	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:21206650T>A	ENST00000357374.2	-	1	492	c.447A>T	c.(445-447)agA>agT	p.R149S		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	149					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R149S(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		AAAGAGTGATTCTTTGGAAGT	0.458																																							uc003zoq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(445-447)AGA>AGT		interferon, alpha 10 precursor							206.0	210.0	209.0					9																	21206650		2203	4300	6503	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206650T>A		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.447A>T	9.37:g.21206650T>A	ENSP00000369566:p.Arg149Ser					IFNA14_uc003zoo.1_Intron	p.R149S	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	493	-			149					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.447A>T	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.18	2.756974	0.49362	.	.	ENSG00000186803	ENST00000357374	T	0.03920	3.76	3.75	-7.51	0.01346	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.318425	0.33631	N	0.004718	T	0.10337	0.0253	M	0.79258	2.445	0.09310	N	1	D	0.53745	0.962	D	0.63703	0.917	T	0.00697	-1.1605	10	0.49607	T	0.09	.	2.8934	0.05684	0.1235:0.3595:0.3476:0.1693	.	149	P01566	IFN10_HUMAN	S	149	ENSP00000369566:R149S	ENSP00000369566:R149S	R	-	3	2	IFNA10	21196650	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-1.448000	0.02394	-1.442000	0.01955	0.409000	0.27619	AGA		0.458	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		37	496	0	0	0	0.007835	0	37	496				
IFNA8	3445	broad.mit.edu	37	9	21409265	21409265	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:21409265C>A	ENST00000380205.1	+	1	120	c.90C>A	c.(88-90)caC>caA	p.H30Q		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	30					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.H30Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTCAGACTCACAGCCTGGGTA	0.502																																							uc003zpc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CAC>CAA		interferon, alpha 8 precursor							128.0	125.0	126.0					9																	21409265		2203	4300	6503	SO:0001583	missense	3445				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21409265C>A		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.90C>A	9.37:g.21409265C>A	ENSP00000369553:p.His30Gln						p.H30Q	NM_002170	NP_002161	P32881	IFNA8_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)	1	120	+			30					P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.90C>A	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	C	8.194	0.796644	0.16327	.	.	ENSG00000120242	ENST00000380205	T	0.03301	3.98	2.87	-1.36	0.09085	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.423749	0.23966	N	0.042815	T	0.09379	0.0231	M	0.64170	1.965	0.09310	N	1	P	0.49635	0.926	P	0.59357	0.856	T	0.04811	-1.0925	10	0.62326	D	0.03	.	7.5571	0.27831	0.0:0.3665:0.0:0.6335	.	30	P32881	IFNA8_HUMAN	Q	30	ENSP00000369553:H30Q	ENSP00000369553:H30Q	H	+	3	2	IFNA8	21399265	0.000000	0.05858	0.003000	0.11579	0.063000	0.16089	-1.672000	0.01952	-0.321000	0.08627	-0.291000	0.09656	CAC		0.502	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		12	189	1	0	0.000978159	0.000978	0.00108999	12	189				
TAF1L	138474	broad.mit.edu	37	9	32634689	32634689	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:32634689C>A	ENST00000242310.4	-	1	978	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	297					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.V297L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCATTCCACCTCCTGGATC	0.498																																							uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(889-891)GTG>TTG		TBP-associated factor RNA polymerase 1-like							176.0	163.0	167.0					9																	32634689		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634689C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.889G>T	9.37:g.32634689C>A	ENSP00000418379:p.Val297Leu					uc003zrh.1_RNA	p.V297L	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	979	-			297					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.889G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439308	0.43326	.	.	ENSG00000122728	ENST00000242310	T	0.07114	3.22	1.04	1.04	0.20106	.	1.287460	0.05125	N	0.491463	T	0.05135	0.0137	N	0.08118	0	0.21652	N	0.999604	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	10	0.39692	T	0.17	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	297	Q8IZX4	TAF1L_HUMAN	L	297	ENSP00000418379:V297L	ENSP00000418379:V297L	V	-	1	0	TAF1L	32624689	0.499000	0.26083	0.989000	0.46669	0.783000	0.44284	1.226000	0.32563	0.507000	0.28148	0.195000	0.17529	GTG		0.498	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			56	149	1	0	3.37043e-27	0.00361	6.11362e-27	56	149				
UBAP1	51271	broad.mit.edu	37	9	34249796	34249796	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:34249796C>G	ENST00000297661.4	+	5	1338	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	UBAP1_ENST00000540348.1_Nonsense_Mutation_p.S368*|UBAP1_ENST00000536252.1_Nonsense_Mutation_p.S368*|UBAP1_ENST00000359544.2_Nonsense_Mutation_p.S368*|UBAP1_ENST00000545103.1_Nonsense_Mutation_p.S432*|UBAP1_ENST00000543944.1_Nonsense_Mutation_p.S404*|UBAP1_ENST00000379186.4_Intron	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	368					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)	p.S368*(1)|p.S432*(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCTAATTTCTCAGTGTCACAA	0.557																																					NSCLC(109;1074 1634 14978 20375 39620)	NSCLC(109;1074 1634 14978 20375 39620)	uc003ztx.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(1102-1104)TCA>TGA		ubiquitin associated protein 1							106.0	101.0	103.0					9																	34249796		2203	4300	6503	SO:0001587	stop_gained	51271					cytoplasm		g.chr9:34249796C>G	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1103C>G	9.37:g.34249796C>G	ENSP00000297661:p.Ser368*					UBAP1_uc010mka.1_Nonsense_Mutation_p.S404*|UBAP1_uc003zty.2_Nonsense_Mutation_p.S368*|UBAP1_uc011loi.1_Nonsense_Mutation_p.S404*|UBAP1_uc011loj.1_Nonsense_Mutation_p.S432*|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Nonsense_Mutation_p.S368*	p.S368*	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	1338	+			368					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Nonsense_Mutation	SNP	ENST00000297661.4	37	c.1103C>G	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	C	38	6.938494	0.97948	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000359544	.	.	.	5.46	3.55	0.40652	.	0.623617	0.15887	N	0.239734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.1834	12.467	0.55764	0.0:0.7998:0.129:0.0712	.	.	.	.	X	432;404;368;368;368;368	.	ENSP00000297661:S368X	S	+	2	0	UBAP1	34239796	0.916000	0.31088	0.999000	0.59377	0.908000	0.53690	1.972000	0.40540	1.533000	0.49186	0.655000	0.94253	TCA		0.557	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			13	161	0	0	0	0.001368	0	13	161				
ENHO	375704	broad.mit.edu	37	9	34521483	34521483	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:34521483T>C	ENST00000399775.2	-	2	636	c.211A>G	c.(211-213)Agc>Ggc	p.S71G	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	71						extracellular region (GO:0005576)		p.S71G(1)		endometrium(1)|lung(1)	2						AGCAGGTAGCTGCCTTCATGG	0.617																																							uc003zun.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)AGC>GGC		adropin precursor							40.0	48.0	45.0					9																	34521483		1966	4140	6106	SO:0001583	missense	375704					extracellular region		g.chr9:34521483T>C	BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.211A>G	9.37:g.34521483T>C	ENSP00000382675:p.Ser71Gly					ENHO_uc003zuo.2_Intron	p.S71G	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN			2	635	-			71					Q8N666	Missense_Mutation	SNP	ENST00000399775.2	37	c.211A>G	CCDS43795.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725213	0.30593	.	.	ENSG00000168913	ENST00000399775	.	.	.	4.84	3.62	0.41486	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.23602	N	0.997311	P	0.39424	0.673	B	0.34418	0.182	T	0.16897	-1.0387	7	0.87932	D	0	.	7.9186	0.29833	0.0:0.0:0.2092:0.7907	.	71	Q6UWT2	ENHO_HUMAN	G	71	.	ENSP00000382675:S71G	S	-	1	0	ENHO	34511483	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.009000	0.40903	1.817000	0.53016	0.454000	0.30748	AGC		0.617	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356348.1	NM_198573		21	77	0	0	0	0.003954	0	21	77				
RECK	8434	broad.mit.edu	37	9	36117030	36117030	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:36117030A>T	ENST00000377966.3	+	17	2675	c.2109A>T	c.(2107-2109)ggA>ggT	p.G703G		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	703	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G703G(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATAAATTTGGATGTAGCCAGT	0.493																																							uc003zyv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2107-2109)GGA>GGT		RECK protein precursor							170.0	149.0	157.0					9																	36117030		2203	4300	6503	SO:0001819	synonymous_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36117030A>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2109A>T	9.37:g.36117030A>T						RECK_uc003zyw.2_Silent_p.G575G|RECK_uc003zyx.2_RNA	p.G703G	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		17	2195	+			703			Kazal-like 2.		B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	c.2109A>T	CCDS6597.1																																																																																				0.493	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			34	125	0	0	0	0.004878	0	34	125				
PAX5	5079	broad.mit.edu	37	9	36882089	36882089	+	Silent	SNP	C	C	A	rs145283614		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:36882089C>A	ENST00000358127.4	-	8	998	c.924G>T	c.(922-924)gcG>gcT	p.A308A	PAX5_ENST00000377853.2_Silent_p.A308A|PAX5_ENST00000414447.1_Silent_p.A265A|PAX5_ENST00000522003.1_Silent_p.A200A|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520281.1_Silent_p.A265A|PAX5_ENST00000377847.2_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	308					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(22)|p.A308A(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGTCGTGCTCGCCAAGTCAC	0.622			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																		uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	23	Unknown(22)|Substitution - coding silent(1)	p.?(22)	haematopoietic_and_lymphoid_tissue(22)|lung(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(922-924)GCG>GCT		paired box 5							62.0	57.0	59.0					9																	36882089		2203	4300	6503	SO:0001819	synonymous_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36882089C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.924G>T	9.37:g.36882089C>A						PAX5_uc011lpt.1_Silent_p.A104A|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.A265A|PAX5_uc011lqa.1_Silent_p.A200A|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Intron|PAX5_uc010mlp.1_Silent_p.A308A|PAX5_uc011lqc.1_Silent_p.A265A|PAX5_uc010mlr.1_Intron	p.A308A	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	8	1372	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	308					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Silent	SNP	ENST00000358127.4	37	c.924G>T	CCDS6607.1																																																																																				0.622	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			7	26	1	0	0.000157383	0.00308	0.000180738	7	26				
CNTNAP3	79937	broad.mit.edu	37	9	39178249	39178249	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:39178249T>G	ENST00000297668.6	-	5	720	c.647A>C	c.(646-648)cAg>cCg	p.Q216P	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Q128P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Q216P|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.Q216P|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.Q216P|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	216	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q216P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCCATTGCTCTGCATGGCTTT	0.323																																							uc004abi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)CAG>CCG		cell recognition molecule CASPR3 precursor							62.0	70.0	67.0					9																	39178249		2203	4288	6491	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39178249T>G	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.647A>C	9.37:g.39178249T>G	ENSP00000297668:p.Gln216Pro					CNTNAP3_uc004abj.2_Missense_Mutation_p.Q216P|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.Q216P|CNTNAP3_uc011lqs.1_Missense_Mutation_p.Q216P|CNTNAP3_uc004abl.1_Missense_Mutation_p.Q128P	p.Q216P	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	886	-			216			Extracellular (Potential).|Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.647A>C	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307873	0.40895	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	3.16	3.16	0.36331	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.89230	0.6656	M	0.85197	2.74	0.09310	N	1	D;P;B;D;P	0.69078	0.995;0.956;0.264;0.997;0.956	D;D;B;D;P	0.72982	0.962;0.936;0.111;0.979;0.905	T	0.79257	-0.1878	9	0.66056	D	0.02	.	10.6771	0.45792	0.0:0.0:0.0:1.0	.	216;216;216;216;216	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	P	216;216;128;216;216;128	ENSP00000297668:Q216P;ENSP00000366884:Q216P;ENSP00000350863:Q128P;ENSP00000320728:Q216P;ENSP00000366887:Q216P	ENSP00000297668:Q216P	Q	-	2	0	CNTNAP3	39168249	0.777000	0.28628	0.045000	0.18777	0.895000	0.52256	2.715000	0.47210	1.422000	0.47177	0.460000	0.39030	CAG		0.323	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		14	206	0	0	0	0.001855	0	14	206				
SPATA31A3	727830	broad.mit.edu	37	9	40702662	40702662	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40702662C>A	ENST00000356699.5	+	4	348	c.319C>A	c.(319-321)Cca>Aca	p.P107T	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	107					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P107T(2)									CCTCCTGGGGCCACACCTTGA	0.667																																							uc010mmj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(319-321)CCA>ACA		hypothetical protein LOC727830							1.0	1.0	1.0					9																	40702662		159	466	625	SO:0001583	missense	727830					integral to membrane		g.chr9:40702662C>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.319C>A	9.37:g.40702662C>A	ENSP00000349132:p.Pro107Thr						p.P107T	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	348	+			107						Missense_Mutation	SNP	ENST00000356699.5	37	c.319C>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	C	9.457	1.092056	0.20471	.	.	ENSG00000147926	ENST00000356699	T	0.03831	3.79	2.19	0.998	0.19857	.	1.281980	0.05630	N	0.581478	T	0.07188	0.0182	L	0.53249	1.67	0.09310	N	1	P	0.52316	0.952	B	0.44224	0.444	T	0.36407	-0.9749	10	0.41790	T	0.15	0.0284	5.1198	0.14854	0.6779:0.3221:0.0:0.0	.	107	Q5VYP0	F75A3_HUMAN	T	107	ENSP00000349132:P107T	ENSP00000349132:P107T	P	+	1	0	FAM75A3	40692662	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.124000	0.15728	0.272000	0.22027	-0.745000	0.03516	CCA		0.667	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		13	83	1	0	3.41278e-10	0.00499	4.95352e-10	13	83				
SPATA31A3	727830	broad.mit.edu	37	9	40702747	40702747	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40702747C>A	ENST00000356699.5	+	4	433	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	135	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S135Y(2)									GATGGAGCCTCCCAGTCCTCT	0.597																																							uc010mmj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(403-405)TCC>TAC		hypothetical protein LOC727830							30.0	38.0	36.0					9																	40702747		1847	4042	5889	SO:0001583	missense	727830					integral to membrane		g.chr9:40702747C>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.404C>A	9.37:g.40702747C>A	ENSP00000349132:p.Ser135Tyr						p.S135Y	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	433	+			135			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.404C>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	C	2.646	-0.282989	0.05642	.	.	ENSG00000147926	ENST00000356699	T	0.04275	3.66	1.95	-0.58	0.11717	.	1.679200	0.03529	N	0.222211	T	0.05502	0.0145	L	0.55481	1.735	0.09310	N	1	P	0.45827	0.867	B	0.41332	0.354	T	0.38757	-0.9646	10	0.13853	T	0.58	3.9215	2.7902	0.05386	0.4598:0.3485:0.1918:0.0	.	135	Q5VYP0	F75A3_HUMAN	Y	135	ENSP00000349132:S135Y	ENSP00000349132:S135Y	S	+	2	0	FAM75A3	40692747	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.765000	0.04730	-0.158000	0.11040	0.404000	0.27445	TCC		0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		46	423	1	0	1.14385e-22	0.00361	2.01318e-22	46	423				
SPATA31A3	727830	broad.mit.edu	37	9	40704246	40704246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40704246C>A	ENST00000356699.5	+	4	1932	c.1903C>A	c.(1903-1905)Cag>Aag	p.Q635K	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	635					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q635K(2)									AGGGACAAGTCAGGCCAAGGG	0.542																																							uc010mmj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1903-1905)CAG>AAG		hypothetical protein LOC727830							10.0	9.0	9.0					9																	40704246		1387	2658	4045	SO:0001583	missense	727830					integral to membrane		g.chr9:40704246C>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.1903C>A	9.37:g.40704246C>A	ENSP00000349132:p.Gln635Lys						p.Q635K	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	1932	+			635						Missense_Mutation	SNP	ENST00000356699.5	37	c.1903C>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051516	0.36181	.	.	ENSG00000147926	ENST00000356699	T	0.07114	3.22	2.69	2.69	0.31865	.	0.497877	0.17126	N	0.186014	T	0.09730	0.0239	L	0.42245	1.32	0.09310	N	1	B	0.24483	0.104	B	0.36845	0.234	T	0.27938	-1.0059	10	0.25751	T	0.34	-1.1608	9.0829	0.36563	0.0:1.0:0.0:0.0	.	635	Q5VYP0	F75A3_HUMAN	K	635	ENSP00000349132:Q635K	ENSP00000349132:Q635K	Q	+	1	0	FAM75A3	40694246	0.008000	0.16893	0.010000	0.14722	0.026000	0.11368	0.551000	0.23361	1.835000	0.53391	0.398000	0.26397	CAG		0.542	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		16	147	1	0	2.4624e-09	0.008871	3.4631e-09	16	147				
SPATA31A3	727830	broad.mit.edu	37	9	40705716	40705716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40705716C>A	ENST00000356699.5	+	4	3402	c.3373C>A	c.(3373-3375)Ctt>Att	p.L1125I	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	1125					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L1125I(2)									TGAAGAAAGGCTTGAAGGATT	0.468																																							uc010mmj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3373-3375)CTT>ATT		hypothetical protein LOC727830							53.0	47.0	49.0					9																	40705716		1508	3028	4536	SO:0001583	missense	727830					integral to membrane		g.chr9:40705716C>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.3373C>A	9.37:g.40705716C>A	ENSP00000349132:p.Leu1125Ile						p.L1125I	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	3402	+			1125						Missense_Mutation	SNP	ENST00000356699.5	37	c.3373C>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	C	1.583	-0.531084	0.04112	.	.	ENSG00000147926	ENST00000356699	T	0.06294	3.32	1.9	-3.48	0.04739	.	2.609370	0.01177	N	0.006997	T	0.06508	0.0167	L	0.39898	1.24	0.09310	N	1	P	0.39282	0.666	B	0.39840	0.311	T	0.32745	-0.9895	10	0.20519	T	0.43	.	6.1451	0.20280	0.0:0.5251:0.0:0.4749	.	1125	Q5VYP0	F75A3_HUMAN	I	1125	ENSP00000349132:L1125I	ENSP00000349132:L1125I	L	+	1	0	FAM75A3	40695716	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.485000	0.02314	-0.677000	0.05231	-0.506000	0.04501	CTT		0.468	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		51	392	1	0	2.12129e-23	0.00361	3.77226e-23	51	392				
SPATA31A3	727830	broad.mit.edu	37	9	40705718	40705718	+	Silent	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40705718T>G	ENST00000356699.5	+	4	3404	c.3375T>G	c.(3373-3375)ctT>ctG	p.L1125L	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	1125					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L1125L(2)									AAGAAAGGCTTGAAGGATTGA	0.468																																							uc010mmj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(3373-3375)CTT>CTG		hypothetical protein LOC727830							50.0	44.0	46.0					9																	40705718		1504	3027	4531	SO:0001819	synonymous_variant	727830					integral to membrane		g.chr9:40705718T>G			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.3375T>G	9.37:g.40705718T>G							p.L1125L	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	3404	+			1125						Silent	SNP	ENST00000356699.5	37	c.3375T>G	CCDS47969.1																																																																																				0.468	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		49	376	0	0	0	0.00361	0	49	376				
ZNF658	26149	broad.mit.edu	37	9	40774548	40774548	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:40774548A>G	ENST00000602553.1	-	5	1021	c.727T>C	c.(727-729)Tgt>Cgt	p.C243R	ZNF658_ENST00000377626.3_Missense_Mutation_p.C243R|ZNF658_ENST00000441795.1_Missense_Mutation_p.C241R			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C243R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATCCTTACAGGACTTTTCT	0.333																																							uc004abs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)TGT>CGT		zinc finger protein 658							60.0	64.0	62.0					9																	40774548		2202	4298	6500	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774548A>G	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.727T>C	9.37:g.40774548A>G	ENSP00000473484:p.Cys243Arg					ZNF658_uc010mmm.1_Missense_Mutation_p.C243R|ZNF658_uc010mmn.1_Missense_Mutation_p.C243R	p.C243R	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	879	-			243					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.727T>C	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	a	10.90	1.482334	0.26598	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.05649	3.41;3.42	1.81	0.647	0.17796	.	.	.	.	.	T	0.04272	0.0118	L	0.29908	0.895	0.09310	N	1	P;B	0.41910	0.764;0.182	B;B	0.35353	0.201;0.059	T	0.38436	-0.9661	9	0.72032	D	0.01	.	5.0979	0.14742	0.8265:0.0:0.1735:0.0	.	243;243	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	R	241;243	ENSP00000408462:C241R;ENSP00000366853:C243R	ENSP00000366853:C243R	C	-	1	0	ZNF658	40764548	0.008000	0.16893	0.000000	0.03702	0.629000	0.37895	2.336000	0.43938	0.192000	0.20272	0.321000	0.21382	TGT		0.333	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		6	103	0	0	0	0.001984	0	6	103				
Unknown	0	broad.mit.edu	37	9	69440291	69440291	+	IGR	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:69440291A>G								ANKRD20A4 (14731 upstream) : AL445665.2 (147086 downstream)														p.L125L(1)									TAGAAAAATTAGAAGAAATCC	0.279																																							uc010mnx.1		NA																	1	Substitution - coding silent(1)		lung(1)		NA						c.(373-375)TTA>TTG		coiled-coil domain containing 29							8.0	8.0	8.0					9																	69440291		755	2043	2798	SO:0001628	intergenic_variant	0							g.chr9:69440291A>G																													9.37:g.69440291A>G							p.L125L	NM_001098806	NP_001092276					3	544	+									Silent	SNP		37	c.375A>G																																																																																				0	0.279									9	88	0	0	0	0.004482	0	9	88				
GDA	9615	broad.mit.edu	37	9	74840612	74840612	+	Missense_Mutation	SNP	G	G	T	rs368610510		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:74840612G>T	ENST00000358399.3	+	8	827	c.734G>T	c.(733-735)cGt>cTt	p.R245L	GDA_ENST00000376989.3_Missense_Mutation_p.R184L|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.R171L|GDA_ENST00000376986.1_Missense_Mutation_p.R167L|GDA_ENST00000238018.4_Missense_Mutation_p.R245L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	245					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.R245L(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGTGAAAATCGTGATGAAGTT	0.279																																							uc004aiq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(733-735)CGT>CTT		guanine deaminase							87.0	98.0	94.0					9																	74840612		2201	4290	6491	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74840612G>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.734G>T	9.37:g.74840612G>T	ENSP00000351170:p.Arg245Leu					GDA_uc011lse.1_Missense_Mutation_p.R171L|GDA_uc011lsf.1_Missense_Mutation_p.R171L|GDA_uc004air.2_Missense_Mutation_p.R245L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.R167L|GDA_uc004ait.1_Missense_Mutation_p.R171L	p.R245L	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	8	917	+		Myeloproliferative disorder(762;0.0122)	245					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.734G>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142093	0.21205	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.93	-2.69	0.06022	Amidohydrolase 1 (1);	1.331670	0.04284	N	0.344395	T	0.75332	0.3835	N	0.12746	0.255	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.60752	-0.7201	10	0.21540	T	0.41	2.3755	4.0072	0.09607	0.1298:0.3932:0.2949:0.182	.	167;245;245	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	L	171;245;184;167;245;111	ENSP00000437972:R171L;ENSP00000238018:R245L;ENSP00000366188:R184L;ENSP00000366185:R167L;ENSP00000351170:R245L;ENSP00000403897:R111L	ENSP00000238018:R245L	R	+	2	0	GDA	74030432	0.000000	0.05858	0.004000	0.12327	0.937000	0.57800	-0.992000	0.03724	-0.332000	0.08489	0.655000	0.94253	CGT		0.279	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			19	135	1	0	2.89027e-11	0.002299	4.29634e-11	19	135				
TRPM6	140803	broad.mit.edu	37	9	77411735	77411735	+	Silent	SNP	A	A	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:77411735A>T	ENST00000360774.1	-	18	2550	c.2313T>A	c.(2311-2313)gtT>gtA	p.V771V	TRPM6_ENST00000361255.3_Silent_p.V766V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.V766V|TRPM6_ENST00000376864.4_Silent_p.V771V|TRPM6_ENST00000451710.3_Silent_p.V771V|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	771					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V771V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGACTGGGGAACATGTGACA	0.368																																							uc004ajl.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2311-2313)GTT>GTA		transient receptor potential cation channel,							138.0	129.0	132.0					9																	77411735		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77411735A>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2313T>A	9.37:g.77411735A>T						TRPM6_uc004ajk.1_Silent_p.V766V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Silent_p.V149V	p.V771V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			18	2551	-			771			Extracellular (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.2313T>A	CCDS6647.1																																																																																				0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		20	101	0	0	0	0.008871	0	20	101				
TRPM6	140803	broad.mit.edu	37	9	77442833	77442833	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:77442833G>T	ENST00000360774.1	-	7	939	c.702C>A	c.(700-702)ccC>ccA	p.P234P	TRPM6_ENST00000361255.3_Silent_p.P229P|TRPM6_ENST00000359047.2_Silent_p.P234P|TRPM6_ENST00000376872.3_Silent_p.P234P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.P229P|TRPM6_ENST00000376864.4_Silent_p.P234P|TRPM6_ENST00000451710.3_Silent_p.P234P|TRPM6_ENST00000376871.3_Silent_p.P234P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	234					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P234P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTGCTGAGGGGGTTATCCA	0.532																																							uc004ajl.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(700-702)CCC>CCA		transient receptor potential cation channel,							166.0	148.0	154.0					9																	77442833		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77442833G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.702C>A	9.37:g.77442833G>T						TRPM6_uc004ajk.1_Silent_p.P229P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.P234P|TRPM6_uc010mpd.1_Silent_p.P234P|TRPM6_uc010mpe.1_Silent_p.P234P|TRPM6_uc004ajn.1_Silent_p.P234P	p.P234P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			7	940	-			234			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.702C>A	CCDS6647.1																																																																																				0.532	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		10	116	1	0	1.58986e-06	0.008291	2.00195e-06	10	116				
GCNT1	2650	broad.mit.edu	37	9	79117415	79117415	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:79117415T>A	ENST00000376730.4	+	4	601	c.118T>A	c.(118-120)Ttt>Att	p.F40I	GCNT1_ENST00000444201.2_Missense_Mutation_p.F40I|GCNT1_ENST00000442371.1_Missense_Mutation_p.F40I|GCNT1_ENST00000536223.1_Missense_Mutation_p.F40I	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	40	Stem region. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.F40I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AAAGCCTGAATTTGTAAGTGT	0.378																																							uc010mpf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)TTT>ATT		beta-1,3-galactosyl-O-glycosyl-glycoprotein							103.0	106.0	105.0					9																	79117415		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117415T>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.118T>A	9.37:g.79117415T>A	ENSP00000365920:p.Phe40Ile					GCNT1_uc010mpg.2_Missense_Mutation_p.F40I|GCNT1_uc010mph.2_Missense_Mutation_p.F40I|GCNT1_uc004akf.3_Missense_Mutation_p.F40I|GCNT1_uc010mpi.2_Missense_Mutation_p.F40I|GCNT1_uc004akh.3_Missense_Mutation_p.F40I	p.F40I	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	459	+			40			Lumenal (Potential).|Stem region (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.118T>A	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	t	10.01	1.234383	0.22626	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.84	4.71	0.59529	.	0.187383	0.48767	D	0.000167	T	0.13157	0.0319	M	0.72479	2.2	0.22989	N	0.998466	B	0.32573	0.376	B	0.26693	0.072	T	0.11324	-1.0592	9	.	.	.	.	11.8609	0.52465	0.0:0.0681:0.0:0.9319	.	40	Q02742	GCNT1_HUMAN	I	40	ENSP00000440883:F40I;ENSP00000415454:F40I;ENSP00000390703:F40I;ENSP00000365920:F40I	.	F	+	1	0	GCNT1	78307235	0.997000	0.39634	0.237000	0.24090	0.199000	0.23934	1.859000	0.39418	1.042000	0.40150	0.528000	0.53228	TTT		0.378	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		12	95	0	0	0	0.001368	0	12	95				
PRUNE2	158471	broad.mit.edu	37	9	79325636	79325636	+	Silent	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:79325636T>G	ENST00000376718.3	-	8	1677	c.1554A>C	c.(1552-1554)gcA>gcC	p.A518A	PRUNE2_ENST00000428286.1_Silent_p.A159A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	518					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A518A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAAGTCATCTGCTGGGGAGT	0.522																																							uc010mpk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1552-1554)GCA>GCC		prune homolog 2							38.0	35.0	36.0					9																	79325636		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325636T>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1554A>C	9.37:g.79325636T>G							p.A518A	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	1678	-			518					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.1554A>C	CCDS47982.1																																																																																				0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	25	0	0	0	0.008291	0	10	25				
SPATA31D1	389763	broad.mit.edu	37	9	84609611	84609611	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:84609611C>G	ENST00000344803.2	+	4	4273	c.4226C>G	c.(4225-4227)aCt>aGt	p.T1409S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1409					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T1409S(2)									AGGAAAGACACTAGGGAGTTC	0.493																																							uc004amn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(4225-4227)ACT>AGT		hypothetical protein LOC389763							28.0	27.0	28.0					9																	84609611		1870	4108	5978	SO:0001583	missense	389763					integral to membrane		g.chr9:84609611C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4226C>G	9.37:g.84609611C>G	ENSP00000341988:p.Thr1409Ser						p.T1409S	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4273	+			1409						Missense_Mutation	SNP	ENST00000344803.2	37	c.4226C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	2.038	-0.420753	0.04734	.	.	ENSG00000214929	ENST00000344803	T	0.04970	3.52	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.22880	0.042	T	0.36089	-0.9762	9	0.35671	T	0.21	4.352	9.0649	0.36458	0.0:0.5188:0.3412:0.14	.	1409	Q6ZQQ2	F75D1_HUMAN	S	1409	ENSP00000341988:T1409S	ENSP00000341988:T1409S	T	+	2	0	FAM75D1	83799431	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.271000	0.00532	-3.238000	0.00207	-1.271000	0.01417	ACT		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		3	22	0	0	0	0.009096	0	3	22				
SPATA31C1	441452	broad.mit.edu	37	9	90536114	90536114	+	RNA	SNP	T	T	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:90536114T>C	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCTTTAGTGTCTCCACTCCT	0.493																																							uc010mqi.2		NA																	0					0						c.(1291-1293)GTC>GCC		family with sequence similarity 75, member C1							2.0	2.0	2.0					9																	90536114		504	1234	1738			441452							g.chr9:90536114T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536114T>C						FAM75C1_uc004apq.3_Missense_Mutation_p.V414A	p.V431A	NM_001145124	NP_001138596					4	1321	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1292T>C																																																																																					0.493	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		39	200	0	0	0	0.006999	0	39	200				
SEMA4D	10507	broad.mit.edu	37	9	91994133	91994133	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:91994133G>C	ENST00000450295.1	-	16	2851	c.2075C>G	c.(2074-2076)tCc>tGc	p.S692C	SEMA4D_ENST00000356444.2_Missense_Mutation_p.S692C|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S692C|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S692C|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	692					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.S692C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GATGGCCCCGGAGGAGGTGGC	0.602																																							uc004aqo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2074-2076)TCC>TGC		semaphorin 4D isoform 1							60.0	64.0	63.0					9																	91994133		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994133G>C	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2075C>G	9.37:g.91994133G>C	ENSP00000416523:p.Ser692Cys					SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S690C	p.S692C	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			18	2647	-			692			Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.2075C>G	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	6.014	0.370938	0.11409	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	4.02	2.16	0.27623	.	1.539240	0.03858	N	0.273493	T	0.59770	0.2218	N	0.14661	0.345	0.09310	N	1	P	0.41748	0.761	B	0.34038	0.174	T	0.54951	-0.8216	10	0.40728	T	0.16	.	5.9822	0.19413	0.1761:0.1548:0.6691:0.0	.	692	Q92854	SEM4D_HUMAN	C	692	ENSP00000416523:S692C;ENSP00000405102:S692C;ENSP00000348822:S692C;ENSP00000388768:S692C	ENSP00000348822:S692C	S	-	2	0	SEMA4D	91183953	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.035000	0.13797	0.483000	0.27608	0.561000	0.74099	TCC		0.602	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		4	73	0	0	0	0.009096	0	4	73				
ROR2	4920	broad.mit.edu	37	9	94493208	94493208	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:94493208A>C	ENST00000375708.3	-	7	1365	c.1167T>G	c.(1165-1167)tgT>tgG	p.C389W	ROR2_ENST00000375715.1_Missense_Mutation_p.C249W|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	389	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.C389W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGGTACGTCACACAGTTCCA	0.527																																							uc004arj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1165-1167)TGT>TGG		receptor tyrosine kinase-like orphan receptor 2							99.0	89.0	92.0					9																	94493208		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493208A>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1167T>G	9.37:g.94493208A>C	ENSP00000364860:p.Cys389Trp					ROR2_uc004ari.1_Missense_Mutation_p.C249W|ROR2_uc004ark.2_Intron	p.C389W	NM_004560	NP_004551	Q01974	ROR2_HUMAN			7	1366	-			389			Extracellular (Potential).|Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1167T>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.944984	0.53079	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.93906	-3.31;-3.31	4.14	2.99	0.34606	Kringle (5);Kringle-like fold (1);	0.000000	0.44483	U	0.000459	D	0.97848	0.9293	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.982;0.999	D	0.95968	0.8967	10	0.87932	D	0	.	7.2714	0.26258	0.8252:0.0:0.1748:0.0	.	389;249	Q01974;B1APY4	ROR2_HUMAN;.	W	249;389	ENSP00000364867:C249W;ENSP00000364860:C389W	ENSP00000364860:C389W	C	-	3	2	ROR2	93533029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.931000	0.48932	0.746000	0.32786	0.459000	0.35465	TGT		0.527	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			13	55	0	0	0	0.001855	0	13	55				
CENPP	401541	broad.mit.edu	37	9	95375392	95375392	+	Silent	SNP	A	A	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:95375392A>G	ENST00000375587.3	+	8	1343	c.828A>G	c.(826-828)gaA>gaG	p.E276E	IPPK_ENST00000486841.1_5'Flank|CENPP_ENST00000375579.3_Silent_p.E103E|CENPP_ENST00000375576.1_Silent_p.E90E	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	276					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.E276E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CTGCTCTGGAAAGCCTGATAA	0.473																																							uc004arz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(826-828)GAA>GAG		centromere protein P							118.0	117.0	118.0					9																	95375392		2203	4300	6503	SO:0001819	synonymous_variant	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95375392A>G	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.828A>G	9.37:g.95375392A>G						CENPP_uc010mqx.2_Silent_p.E164E|CENPP_uc004asj.2_Silent_p.E103E	p.E276E	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			8	1368	+			276					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Silent	SNP	ENST00000375587.3	37	c.828A>G	CCDS35063.1																																																																																				0.473	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		10	122	0	0	0	0.000978	0	10	122				
FBP2	8789	broad.mit.edu	37	9	97325681	97325681	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:97325681G>T	ENST00000375337.3	-	6	834	c.768C>A	c.(766-768)acC>acA	p.T256T	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	256					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)	p.T256T(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CATAGACCAGGGTGCGGTGCA	0.572																																							uc004auv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)ACC>ACA		fructose-1,6-bisphosphatase 2							145.0	125.0	132.0					9																	97325681		2203	4300	6503	SO:0001819	synonymous_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97325681G>T	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.768C>A	9.37:g.97325681G>T						uc004aus.1_Intron|uc004aut.1_Intron|uc004auu.2_Intron	p.T256T	NM_003837	NP_003828	O00757	F16P2_HUMAN			6	835	-		Acute lymphoblastic leukemia(62;0.136)	256					Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	c.768C>A	CCDS6711.1																																																																																				0.572	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		7	64	1	0	2.0095e-06	0.001984	2.51391e-06	7	64				
HSD17B3	3293	broad.mit.edu	37	9	99006653	99006653	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:99006653C>T	ENST00000375263.3	-	9	677	c.630G>A	c.(628-630)aaG>aaA	p.K210K	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.K210K|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	210					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)	p.K210K(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				CTTGCAGGGCCTTGGAAAATG	0.552																																							uc004awa.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)AAG>AAA		estradiol 17 beta-dehydrogenase 3	NADH(DB00157)						192.0	167.0	176.0					9																	99006653		2203	4300	6503	SO:0001819	synonymous_variant	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99006653C>T		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.630G>A	9.37:g.99006653C>T						HSD17B3_uc010msc.1_Silent_p.K210K	p.K210K	NM_000197	NP_000188	P37058	DHB3_HUMAN			9	678	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	210					Q5U0Q6	Silent	SNP	ENST00000375263.3	37	c.630G>A	CCDS6716.1																																																																																				0.552	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		12	110	0	0	0	0.001368	0	12	110				
NR4A3	8013	broad.mit.edu	37	9	102607124	102607124	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:102607124C>A	ENST00000395097.2	+	6	2177	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	NR4A3_ENST00000330847.1_Missense_Mutation_p.S494Y	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	483	Ligand-binding. {ECO:0000255}.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.S494Y(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CTCAGACTTTCCATCAGGTAA	0.393			T	EWSR1	extraskeletal myxoid chondrosarcoma																																		uc004baf.1		NA		Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	1	Substitution - Missense(1)		lung(1)	bone(173)	173						c.(1447-1449)TCC>TAC		nuclear receptor subfamily 4, group A, member 3							67.0	62.0	64.0					9																	102607124		2203	4300	6503	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102607124C>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1448C>A	9.37:g.102607124C>A	ENSP00000378531:p.Ser483Tyr					NR4A3_uc004bag.1_Missense_Mutation_p.S483Y|NR4A3_uc004bai.2_Missense_Mutation_p.S494Y	p.S483Y	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			6	2177	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	483			Ligand-binding (Potential).		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.1448C>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820314	0.90873	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	D;D	0.96745	-4.11;-4.11	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.054170	0.85682	D	0.000000	D	0.97402	0.9150	L	0.46819	1.47	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.914;0.986	D	0.98029	1.0375	10	0.87932	D	0	.	19.8685	0.96840	0.0:1.0:0.0:0.0	.	494;483	Q92570-3;Q92570	.;NR4A3_HUMAN	Y	483;494	ENSP00000378531:S483Y;ENSP00000333122:S494Y	ENSP00000333122:S494Y	S	+	2	0	NR4A3	101646945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.485000	0.81204	2.699000	0.92147	0.563000	0.77884	TCC		0.393	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	40	1	0	4.68919e-08	0.008291	6.2631e-08	10	40				
TEX10	54881	broad.mit.edu	37	9	103084051	103084051	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:103084051G>A	ENST00000374902.4	-	10	2158	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	TEX10_ENST00000535814.1_Missense_Mutation_p.S664L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	661						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.S661L(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGAAAATGATGATCTATAAAA	0.363																																							uc004bas.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1981-1983)TCA>TTA		testis expressed 10 isoform 1							84.0	85.0	85.0					9																	103084051		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103084051G>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1982C>T	9.37:g.103084051G>A	ENSP00000364037:p.Ser661Leu					TEX10_uc011lvf.1_Missense_Mutation_p.S500L|TEX10_uc011lvg.1_Missense_Mutation_p.S664L	p.S661L	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	10	2197	-		Acute lymphoblastic leukemia(62;0.0527)	661					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1982C>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098139	0.94197	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.972	T	0.74284	-0.3715	9	0.87932	D	0	-8.3475	19.3889	0.94570	0.0:0.0:1.0:0.0	.	664;529;661	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	L	664;661;529	.	ENSP00000364037:S661L	S	-	2	0	TEX10	102123872	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.147000	0.77382	2.826000	0.97356	0.655000	0.94253	TCA		0.363	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		6	83	0	0	0	0.00308	0	6	83				
RNF20	56254	broad.mit.edu	37	9	104319843	104319843	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:104319843G>C	ENST00000389120.3	+	16	2437	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	783					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E783Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAGAAGGAGGAGCTGGCAGA	0.423																																							uc004bbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(2347-2349)GAG>CAG		ring finger protein 20							94.0	86.0	88.0					9																	104319843		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104319843G>C	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2347G>C	9.37:g.104319843G>C	ENSP00000373772:p.Glu783Gln						p.E783Q	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	16	2437	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	783			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2347G>C	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421467	0.83559	.	.	ENSG00000155827	ENST00000389120	T	0.32988	1.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.57536	1.79	0.80722	D	1	D	0.57257	0.979	P	0.54026	0.74	T	0.11665	-1.0578	10	0.20046	T	0.44	-22.6726	19.088	0.93213	0.0:0.0:1.0:0.0	.	783	Q5VTR2	BRE1A_HUMAN	Q	783	ENSP00000373772:E783Q	ENSP00000373772:E783Q	E	+	1	0	RNF20	103359664	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	2.611000	0.88343	0.563000	0.77884	GAG		0.423	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	41	0	0	0	0.000602	0	5	41				
OR13C8	138802	broad.mit.edu	37	9	107331853	107331853	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:107331853C>T	ENST00000335040.1	+	1	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I135I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACCCTGTCATCATGAGCAAGG	0.537																																							uc011lvo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(403-405)ATC>ATT		olfactory receptor, family 13, subfamily C,							102.0	88.0	93.0					9																	107331853		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331853C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.405C>T	9.37:g.107331853C>T							p.I135I	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	405	+			135			Cytoplasmic (Potential).		Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.405C>T	CCDS35090.1																																																																																				0.537	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			15	62	0	0	0	0.003163	0	15	62				
OR13C5	138799	broad.mit.edu	37	9	107361006	107361006	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:107361006G>T	ENST00000374779.2	-	1	782	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230F(1)|p.S230Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCCTCCGAAGAGCTAATTTT	0.423																																							uc011lvp.1		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(688-690)TCT>TAT		olfactory receptor, family 13, subfamily C,							122.0	114.0	116.0					9																	107361006		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361006G>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.689C>A	9.37:g.107361006G>T	ENSP00000363911:p.Ser230Tyr						p.S230Y	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	689	-			230			Cytoplasmic (Potential).		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.689C>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024429	0.54683	.	.	ENSG00000255800	ENST00000374779	T	0.00337	8.05	4.03	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.222731	0.22644	U	0.057404	T	0.00936	0.0031	H	0.97516	4.02	0.09310	N	1	P	0.51449	0.945	P	0.53988	0.739	T	0.17077	-1.0381	10	0.87932	D	0	.	9.276	0.37700	0.1083:0.0:0.8917:0.0	.	230	Q8NGS8	O13C5_HUMAN	Y	230	ENSP00000363911:S230Y	ENSP00000363911:S230Y	S	-	2	0	OR13C5	106400827	0.211000	0.23529	0.001000	0.08648	0.241000	0.25554	3.088000	0.50175	0.924000	0.37069	0.423000	0.28283	TCT		0.423	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		30	85	1	0	2.61193e-14	0.009535	4.15106e-14	30	85				
FKTN	2218	broad.mit.edu	37	9	108363572	108363572	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:108363572C>G	ENST00000223528.2	+	4	436	c.312C>G	c.(310-312)ttC>ttG	p.F104L	FKTN_ENST00000540160.1_Missense_Mutation_p.F104L|FKTN_ENST00000602661.1_Missense_Mutation_p.F104L|FKTN_ENST00000357998.5_Missense_Mutation_p.F104L|FKTN_ENST00000448551.2_Missense_Mutation_p.F104L	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	104					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.F104L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GCAAGTTTTTCTGTGTTCCAA	0.353																																							uc004bcr.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(310-312)TTC>TTG		fukutin							97.0	93.0	94.0					9																	108363572		2203	4300	6503	SO:0001583	missense	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108363572C>G		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.312C>G	9.37:g.108363572C>G	ENSP00000223528:p.Phe104Leu					FKTN_uc011lvx.1_Missense_Mutation_p.F104L|FKTN_uc004bcs.2_Missense_Mutation_p.F104L|FKTN_uc011lvy.1_Missense_Mutation_p.F104L|FKTN_uc010mtm.2_5'UTR	p.F104L	NM_001079802	NP_001073270	O75072	FKTN_HUMAN			5	528	+			104			Lumenal (Potential).		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	c.312C>G	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352370	0.11182	.	.	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998;ENST00000374705	D;D;T;D;T	0.88896	-2.12;-2.44;-1.25;-2.44;-1.3	5.65	2.65	0.31530	.	0.162090	0.56097	N	0.000029	T	0.78947	0.4364	L	0.39898	1.24	0.45129	D	0.998145	B;B;B	0.14805	0.011;0.0;0.0	B;B;B	0.16722	0.016;0.0;0.0	T	0.64744	-0.6335	10	0.05721	T	0.95	-29.7671	6.4867	0.22093	0.1361:0.6615:0.1311:0.0714	.	104;104;104	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	L	104;104;104;104;81	ENSP00000223528:F104L;ENSP00000399140:F104L;ENSP00000439423:F104L;ENSP00000350687:F104L;ENSP00000363837:F81L	ENSP00000223528:F104L	F	+	3	2	FKTN	107403393	0.979000	0.34478	1.000000	0.80357	0.533000	0.34776	0.080000	0.14802	0.714000	0.32081	0.467000	0.42956	TTC		0.353	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		6	72	0	0	0	0.001984	0	6	72				
PALM2	114299	broad.mit.edu	37	9	112705122	112705122	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:112705122G>T	ENST00000374531.2	+	7	631	c.557G>T	c.(556-558)gGc>gTc	p.G186V	PALM2_ENST00000448454.2_Missense_Mutation_p.G220V|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.G184V|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.G218V	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	186					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.G186V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CGCTCAGGAGGCACCGTAGTA	0.468																																							uc004bei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(652-654)GGC>GTC		A kinase (PRKA) anchor protein 2 isoform 2							95.0	81.0	86.0					9																	112705122		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112705122G>T	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.557G>T	9.37:g.112705122G>T	ENSP00000363656:p.Gly186Val					PALM2_uc004bef.2_Missense_Mutation_p.G220V|PALM2_uc004beg.2_Missense_Mutation_p.G186V|PALM2_uc004beh.3_Missense_Mutation_p.G218V|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.G218V	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			7	845	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.653G>T	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381844	0.61845	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	6.17	6.17	0.99709	.	.	.	.	.	T	0.46560	0.1399	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.10177	-1.0641	9	0.27785	T	0.31	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	186;220	Q8IXS6;D3YTA4	PALM2_HUMAN;.	V	186;220;184;218;218	ENSP00000363656:G186V;ENSP00000400206:G220V;ENSP00000417525:G184V;ENSP00000323805:G218V;ENSP00000397839:G218V	ENSP00000397839:G218V	G	+	2	0	PALM2-AKAP2;PALM2	111744943	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.410000	0.66381	2.941000	0.99782	0.655000	0.94253	GGC		0.468	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		9	38	1	0	3.09899e-07	0.004482	3.99367e-07	9	38				
SVEP1	79987	broad.mit.edu	37	9	113132270	113132270	+	Missense_Mutation	SNP	C	C	G	rs200899704		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:113132270C>G	ENST00000401783.2	-	47	10963	c.10627G>C	c.(10627-10629)Ggt>Cgt	p.G3543R	SVEP1_ENST00000374469.1_Missense_Mutation_p.G3520R|RNU6-1039P_ENST00000383931.1_RNA|SVEP1_ENST00000297826.5_Missense_Mutation_p.G1469R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3543	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.G3546R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTTTCCACCATTTAAGCAG	0.378																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(10627-10629)GGT>CGT		polydom							82.0	74.0	77.0					9																	113132270		1846	4094	5940	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113132270C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10627G>C	9.37:g.113132270C>G	ENSP00000384917:p.Gly3543Arg					SVEP1_uc010mty.2_Missense_Mutation_p.G1469R	p.G3543R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			47	10964	-			3543			EGF-like 9.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.10627G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744231	0.89663	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.37584	1.19;1.19;1.19	5.81	5.81	0.92471	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.105842	0.64402	D	0.000004	T	0.65749	0.2721	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67425	-0.5674	10	0.56958	D	0.05	.	20.0643	0.97702	0.0:1.0:0.0:0.0	.	3543	Q4LDE5	SVEP1_HUMAN	R	3543;3520;1469	ENSP00000384917:G3543R;ENSP00000363593:G3520R;ENSP00000297826:G1469R	ENSP00000297826:G1469R	G	-	1	0	SVEP1	112172091	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.074000	0.64401	2.737000	0.93849	0.650000	0.86243	GGT		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	32	0	0	0	0.004672	0	3	32				
SVEP1	79987	broad.mit.edu	37	9	113169032	113169032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:113169032C>A	ENST00000401783.2	-	38	9184	c.8848G>T	c.(8848-8850)Gga>Tga	p.G2950*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.G2927*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.G876*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2950	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.G2953*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGAGGTCCACAGTTGACT	0.483																																							uc010mtz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(7)	7						c.(8848-8850)GGA>TGA		polydom							189.0	184.0	185.0					9																	113169032		1937	4138	6075	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169032C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8848G>T	9.37:g.113169032C>A	ENSP00000384917:p.Gly2950*					SVEP1_uc010mty.2_Nonsense_Mutation_p.G876*	p.G2950*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	9185	-			2950			Sushi 26.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.8848G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	52	19.066921	0.99914	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	.	.	.	5.57	2.76	0.32466	.	0.282412	0.39985	N	0.001220	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	10.4021	0.44235	0.0:0.7904:0.0:0.2096	.	.	.	.	X	2950;2927;876	.	ENSP00000297826:G876X	G	-	1	0	SVEP1	112208853	0.997000	0.39634	0.845000	0.33349	0.951000	0.60555	3.907000	0.56348	0.326000	0.23384	0.591000	0.81541	GGA		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				36	209	1	0	2.19358e-23	0.005524	3.89183e-23	36	209				
PTGR1	22949	broad.mit.edu	37	9	114359635	114359635	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:114359635T>G	ENST00000407693.2	-	2	330	c.68A>C	c.(67-69)gAg>gCg	p.E23A	PTGR1_ENST00000538962.1_Missense_Mutation_p.E23A|PTGR1_ENST00000309195.5_Missense_Mutation_p.E23A|PTGR1_ENST00000238248.3_5'UTR	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	23					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)	p.E23A(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TGTCTTCAACTCAAAGTCACT	0.403																																					Ovarian(200;132 2151 7551 19220 46064)	Ovarian(200;132 2151 7551 19220 46064)	uc004bfh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GAG>GCG		prostaglandin reductase 1 isoform 1							113.0	101.0	105.0					9																	114359635		2203	4300	6503	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114359635T>G	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.68A>C	9.37:g.114359635T>G	ENSP00000385763:p.Glu23Ala					PTGR1_uc011lwr.1_Missense_Mutation_p.E23A|PTGR1_uc004bfi.3_Missense_Mutation_p.E23A|PTGR1_uc004bfj.3_5'UTR|PTGR1_uc010mue.2_Missense_Mutation_p.E23A	p.E23A	NM_012212	NP_036344	Q14914	PTGR1_HUMAN			2	171	-			23					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.68A>C	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004113	0.35320	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000333580;ENST00000422125;ENST00000374313;ENST00000374308	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.63	4.63	0.57726	GroES-like (1);	0.143987	0.64402	D	0.000008	T	0.41766	0.1173	L	0.47190	1.495	0.80722	D	1	P;P;B	0.38582	0.638;0.506;0.13	B;B;B	0.43103	0.408;0.284;0.024	T	0.35450	-0.9788	10	0.46703	T	0.11	-29.569	12.2353	0.54512	0.0:0.0:0.0:1.0	.	23;23;23	F5GY50;B4DPK3;Q14914	.;.;PTGR1_HUMAN	A	23	ENSP00000440281:E23A;ENSP00000311572:E23A;ENSP00000385763:E23A;ENSP00000395965:E23A	ENSP00000311572:E23A	E	-	2	0	PTGR1	113399456	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	5.363000	0.66104	2.023000	0.59567	0.379000	0.24179	GAG		0.403	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			5	48	0	0	0	0.001168	0	5	48				
SNX30	401548	broad.mit.edu	37	9	115600941	115600941	+	Silent	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:115600941G>C	ENST00000374232.3	+	6	1142	c.978G>C	c.(976-978)gtG>gtC	p.V326V		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	326					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.V326V(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCTACCTGTGCTCAGGGAAT	0.438																																							uc004bgj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(976-978)GTG>GTC		sorting nexin family member 30							97.0	100.0	99.0					9																	115600941		1988	4182	6170	SO:0001819	synonymous_variant	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115600941G>C	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.978G>C	9.37:g.115600941G>C						SNX30_uc004bgi.3_Silent_p.V8V	p.V326V	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			6	1126	+			326						Silent	SNP	ENST00000374232.3	37	c.978G>C	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	G	9.030	0.987153	0.18889	.	.	ENSG00000148158	ENST00000416585	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.61986	0.2391	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60110	-0.7327	4	.	.	.	.	10.7822	0.46384	0.0731:0.1326:0.7943:0.0	.	.	.	.	S	26	.	.	C	+	2	0	SNX30	114640762	0.973000	0.33851	1.000000	0.80357	0.979000	0.70002	0.049000	0.14099	2.524000	0.85096	0.563000	0.77884	TGC		0.438	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			17	100	0	0	0	0.00499	0	17	100				
ZFP37	7539	broad.mit.edu	37	9	115806314	115806314	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:115806314C>A	ENST00000374227.3	-	4	611	c.584G>T	c.(583-585)aGa>aTa	p.R195I	ZFP37_ENST00000555206.1_Missense_Mutation_p.R196I|ZFP37_ENST00000553380.1_Missense_Mutation_p.R210I	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R195I(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TACACAGTTTCTTGAGTGATC	0.323																																							uc004bgm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(583-585)AGA>ATA		zinc finger protein 37 homolog							144.0	144.0	144.0					9																	115806314		2203	4299	6502	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806314C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.584G>T	9.37:g.115806314C>A	ENSP00000363344:p.Arg195Ile					ZFP37_uc011lwz.1_Missense_Mutation_p.R210I|ZFP37_uc011lxa.1_Missense_Mutation_p.R196I	p.R195I	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	612	-			195					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.584G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402198	0.25291	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.06449	3.33;3.3;3.35	4.2	0.849	0.18972	.	0.362815	0.21043	N	0.081126	T	0.04003	0.0112	L	0.31664	0.95	0.19300	N	0.999976	B;B;B	0.20671	0.009;0.009;0.047	B;B;B	0.20767	0.005;0.005;0.031	T	0.37865	-0.9687	10	0.56958	D	0.05	-7.8131	1.0375	0.01551	0.2559:0.3915:0.2047:0.1479	.	196;210;195	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	I	195;196;210	ENSP00000363344:R195I;ENSP00000451310:R196I;ENSP00000452552:R210I	ENSP00000363344:R195I	R	-	2	0	ZFP37	114846135	0.000000	0.05858	0.185000	0.23176	0.515000	0.34225	-0.518000	0.06267	0.150000	0.19136	0.655000	0.94253	AGA		0.323	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		27	144	1	0	6.36457e-07	0.003954	8.12723e-07	27	144				
COL27A1	85301	broad.mit.edu	37	9	116931198	116931198	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:116931198C>T	ENST00000356083.3	+	3	1754	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	455	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P455S(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAAACCCATTCCCACACTAGC	0.612																																							uc011lxl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1363-1365)CCC>TCC		collagen, type XXVII, alpha 1 precursor							119.0	139.0	132.0					9																	116931198		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931198C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1363C>T	9.37:g.116931198C>T	ENSP00000348385:p.Pro455Ser					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.P305S	p.P455S	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	1363	+			455			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1363C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857606	0.17106	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.92249	-2.58;-3.0	4.7	0.351	0.16042	.	.	.	.	.	D	0.82912	0.5140	N	0.24115	0.695	0.09310	N	1	B;B	0.20550	0.003;0.046	B;B	0.17098	0.004;0.017	T	0.71609	-0.4541	9	0.51188	T	0.08	.	3.3617	0.07189	0.2879:0.4782:0.1414:0.0925	.	455;402	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	S	455;455;402;402	ENSP00000348385:P455S;ENSP00000391328:P402S	ENSP00000348385:P455S	P	+	1	0	COL27A1	115971019	0.000000	0.05858	0.006000	0.13384	0.072000	0.16883	0.315000	0.19451	0.399000	0.25367	0.462000	0.41574	CCC		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		7	161	0	0	0	0.004482	0	7	161				
COL27A1	85301	broad.mit.edu	37	9	116956729	116956729	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:116956729G>T	ENST00000356083.3	+	6	2453	c.2062G>T	c.(2062-2064)Ggg>Tgg	p.G688W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	688	Collagen-like 2.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G688W(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCCCACGATGGGGCAAAGGT	0.527																																							uc011lxl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2062-2064)GGG>TGG		collagen, type XXVII, alpha 1 precursor							134.0	141.0	139.0					9																	116956729		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116956729G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2062G>T	9.37:g.116956729G>T	ENSP00000348385:p.Gly688Trp					COL27A1_uc004bii.2_Intron|COL27A1_uc010mvd.1_Intron	p.G688W	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			6	2062	+			688			Collagen-like 2.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2062G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.114066	0.56398	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99369	-5.78	5.29	5.29	0.74685	.	.	.	.	.	D	0.99447	0.9804	M	0.89214	3.015	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98523	1.0624	9	0.87932	D	0	.	14.4313	0.67251	0.0:0.0:1.0:0.0	.	688	Q8IZC6	CORA1_HUMAN	W	688	ENSP00000348385:G688W	ENSP00000348385:G688W	G	+	1	0	COL27A1	115996550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.836000	0.62789	2.457000	0.83068	0.655000	0.94253	GGG		0.527	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		27	160	1	0	5.61819e-17	0.005443	9.38396e-17	27	160				
TNC	3371	broad.mit.edu	37	9	117838396	117838396	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:117838396C>T	ENST00000350763.4	-	9	3276	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	TNC_ENST00000341037.4_Silent_p.L955L|TNC_ENST00000542877.1_Silent_p.L955L|TNC_ENST00000345230.3_Silent_p.L955L|TNC_ENST00000340094.3_Silent_p.L955L|TNC_ENST00000346706.3_Silent_p.L955L|TNC_ENST00000537320.1_Silent_p.L955L|TNC_ENST00000423613.2_Silent_p.L955L|TNC_ENST00000535648.1_Silent_p.L955L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	955	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.L955L(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCCCGGCCTCAGACCTAAGG	0.493																																							uc004bjj.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(2863-2865)CTG>CTA		tenascin C precursor							109.0	107.0	107.0					9																	117838396		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117838396C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2865G>A	9.37:g.117838396C>T						TNC_uc010mvf.2_Silent_p.L955L	p.L955L	NM_002160	NP_002151	P24821	TENA_HUMAN			9	3227	-			955			Fibronectin type-III 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.2865G>A	CCDS6811.1																																																																																				0.493	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		21	96	0	0	0	0.001882	0	21	96				
CCBL1	883	broad.mit.edu	37	9	131597919	131597919	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:131597919C>T	ENST00000302586.3	-	10	1045	c.883G>A	c.(883-885)Gag>Aag	p.E295K	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.E245K|CCBL1_ENST00000436267.2_Missense_Mutation_p.E389K	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	295					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E295K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AGCAGCTGCTCCCGTTCAAAG	0.602																																							uc004bwh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)GAG>AAG		kynurenine aminotransferase I isoform a	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						39.0	42.0	41.0					9																	131597919		2090	4218	6308	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597919C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.883G>A	9.37:g.131597919C>T	ENSP00000302227:p.Glu295Lys					CCBL1_uc004bwf.2_Missense_Mutation_p.E329K|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.E295K|CCBL1_uc004bwj.2_Missense_Mutation_p.E245K|CCBL1_uc011mbl.1_Missense_Mutation_p.E389K|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.E252K	p.E295K	NM_004059	NP_004050	Q16773	KAT1_HUMAN			10	1068	-			295					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.883G>A	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118119	0.56505	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90788	-2.73;-2.73;-2.73	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	M	0.63428	1.95	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.94675	0.7860	10	0.59425	D	0.04	-27.6741	17.9232	0.88973	0.0:1.0:0.0:0.0	.	389;295;245;295	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	K	295;245;389	ENSP00000302227:E295K;ENSP00000317342:E245K;ENSP00000399415:E389K	ENSP00000302227:E295K	E	-	1	0	CCBL1	130637740	0.995000	0.38212	0.898000	0.35279	0.061000	0.15899	3.218000	0.51192	2.468000	0.83385	0.436000	0.28706	GAG		0.602	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			3	24	0	0	0	0.004672	0	3	24				
LRRC8A	56262	broad.mit.edu	37	9	131670448	131670448	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:131670448C>G	ENST00000259324.5	+	3	1528	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	LRRC8A_ENST00000372600.4_Missense_Mutation_p.I335M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.I335M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	335					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I335M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ACGGCCTCATCTGCATGTATA	0.572																																							uc004bwl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)ATC>ATG		leucine rich repeat containing 8 family, member							216.0	155.0	176.0					9																	131670448		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670448C>G	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1005C>G	9.37:g.131670448C>G	ENSP00000259324:p.Ile335Met					LRRC8A_uc010myp.2_Missense_Mutation_p.I335M|LRRC8A_uc010myq.2_Missense_Mutation_p.I335M	p.I335M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	1259	+			335			Helical; (Potential).		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1005C>G	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	8.422	0.846508	0.16963	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.57273	0.41;0.41;0.41	5.27	4.28	0.50868	.	0.094349	0.64402	D	0.000001	T	0.41766	0.1173	N	0.19112	0.55	0.47476	D	0.999433	P	0.35208	0.49	B	0.38056	0.264	T	0.46965	-0.9153	10	0.51188	T	0.08	.	15.7095	0.77615	0.1459:0.854:0.0:0.0	.	335	Q8IWT6	LRC8A_HUMAN	M	335	ENSP00000361682:I335M;ENSP00000361680:I335M;ENSP00000259324:I335M	ENSP00000259324:I335M	I	+	3	3	LRRC8A	130710269	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.549000	0.45803	2.468000	0.83385	0.462000	0.41574	ATC		0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		6	104	0	0	0	0.001168	0	6	104				
LAMC3	10319	broad.mit.edu	37	9	133962940	133962940	+	Silent	SNP	G	G	C	rs201023030		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:133962940G>C	ENST00000361069.4	+	26	4441	c.4308G>C	c.(4306-4308)acG>acC	p.T1436T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1436	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.T1436T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCAAGCCACGCTCCAACAGG	0.657																																							uc004caa.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4306-4308)ACG>ACC		laminin, gamma 3 precursor							70.0	76.0	74.0					9																	133962940		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133962940G>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4308G>C	9.37:g.133962940G>C						LAMC3_uc010mze.1_Silent_p.T124T	p.T1436T	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	26	4406	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1436			Domain II and I.|Potential.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.4308G>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	1.447	-0.566066	0.03910	.	.	ENSG00000050555	ENST00000355452	.	.	.	4.74	-6.65	0.01795	.	.	.	.	.	T	0.16085	0.0387	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	.	1.8038	0.03076	0.1711:0.3804:0.1393:0.3093	.	.	.	.	P	118	.	.	R	+	2	0	LAMC3	132952761	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-3.137000	0.00588	-0.765000	0.04645	0.563000	0.77884	CGC		0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		16	44	0	0	0	0.003163	0	16	44				
NUP214	8021	broad.mit.edu	37	9	134039265	134039265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:134039265G>T	ENST00000359428.5	+	20	2876	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589095.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S912I|RP11-544A12.4_ENST00000592466.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S901I|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000588325.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	911	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.S911I(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTTTGACAGTGACCTGGAA	0.438			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(2731-2733)AGT>ATT		nucleoporin 214kDa							206.0	204.0	205.0					9																	134039265		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134039265G>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2732G>T	9.37:g.134039265G>T	ENSP00000352400:p.Ser911Ile					NUP214_uc004cah.2_Missense_Mutation_p.S901I|NUP214_uc004cai.2_Missense_Mutation_p.S341I|NUP214_uc004caf.1_Missense_Mutation_p.S900I|NUP214_uc010mzf.2_Missense_Mutation_p.S209I	p.S911I	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	20	2843	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	911			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2732G>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637875	0.87760	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.35236	1.32;1.33;1.33	5.9	5.9	0.94986	.	0.000000	0.47455	D	0.000227	T	0.36054	0.0953	N	0.08118	0	0.54753	D	0.999983	P;D;P;D	0.63046	0.928;0.992;0.892;0.992	P;P;P;P	0.59703	0.796;0.862;0.461;0.862	T	0.36601	-0.9741	10	0.62326	D	0.03	-16.4099	14.1462	0.65351	0.0:0.0:0.8503:0.1497	.	900;505;901;911	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	I	911;901;912;900;505;340	ENSP00000352400:S911I;ENSP00000396576:S901I;ENSP00000405014:S912I	ENSP00000352400:S911I	S	+	2	0	NUP214	133029086	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.306000	0.51881	2.786000	0.95864	0.563000	0.77884	AGT		0.438	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		45	182	1	0	1.81118e-26	0.00361	3.27758e-26	45	182				
SETX	23064	broad.mit.edu	37	9	135204107	135204107	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:135204107T>A	ENST00000224140.5	-	10	3060	c.2878A>T	c.(2878-2880)Aga>Tga	p.R960*	SETX_ENST00000372169.2_Nonsense_Mutation_p.R960*|SETX_ENST00000393220.1_Nonsense_Mutation_p.R960*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	960					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R960*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGAAGGTCTCTGTCTATCTGA	0.413																																							uc004cbk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2878-2880)AGA>TGA		senataxin							101.0	98.0	99.0					9																	135204107		2203	4300	6503	SO:0001587	stop_gained	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204107T>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2878A>T	9.37:g.135204107T>A	ENSP00000224140:p.Arg960*					SETX_uc004cbj.2_Nonsense_Mutation_p.R579*|SETX_uc010mzt.2_Nonsense_Mutation_p.R579*	p.R960*	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3061	-		Myeloproliferative disorder(178;0.204)	960					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	ENST00000224140.5	37	c.2878A>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	42	9.584053	0.99211	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	.	.	.	5.26	-3.68	0.04463	.	5.157680	0.00166	N	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6835	0.62502	0.0:0.0676:0.6969:0.2354	.	.	.	.	X	960	.	ENSP00000224140:R960X	R	-	1	2	SETX	134193928	0.938000	0.31826	0.982000	0.44146	0.993000	0.82548	-0.099000	0.11007	-0.549000	0.06191	0.533000	0.62120	AGA		0.413	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		8	93	0	0	0	0.00308	0	8	93				
C9orf171	389799	broad.mit.edu	37	9	135447814	135447814	+	Missense_Mutation	SNP	C	C	G	rs141309620	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:135447814C>G	ENST00000343036.2	+	7	928	c.880C>G	c.(880-882)Cgc>Ggc	p.R294G	C9orf171_ENST00000393216.2_Missense_Mutation_p.R258G	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	294								p.R294G(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGAGGCCGATCGCCAGAGAGC	0.627																																							uc004cbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(880-882)CGC>GGC		hypothetical protein LOC389799							76.0	68.0	71.0					9																	135447814		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135447814C>G	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.880C>G	9.37:g.135447814C>G	ENSP00000343290:p.Arg294Gly					C9orf171_uc004cbo.2_Missense_Mutation_p.R258G	p.R294G	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			7	928	+			294					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.880C>G	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544535	0.27563	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.27104	1.69;1.7	5.53	5.53	0.82687	.	0.133057	0.50627	D	0.000113	T	0.29093	0.0723	L	0.52573	1.65	0.38717	D	0.953354	B;B	0.30033	0.266;0.255	B;B	0.33568	0.057;0.166	T	0.14727	-1.0462	10	0.72032	D	0.01	.	14.9549	0.71104	0.0:1.0:0.0:0.0	.	258;294	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	G	294;258	ENSP00000343290:R294G;ENSP00000376909:R258G	ENSP00000343290:R294G	R	+	1	0	C9orf171	134437635	0.998000	0.40836	0.983000	0.44433	0.037000	0.13140	3.907000	0.56348	2.617000	0.88574	0.542000	0.68232	CGC		0.627	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		4	64	0	0	0	0.001168	0	4	64				
COL5A1	1289	broad.mit.edu	37	9	137703228	137703228	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:137703228C>T	ENST00000371817.3	+	45	3986	c.3572C>T	c.(3571-3573)cCa>cTa	p.P1191L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1191	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P1191L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGGACAGCCAGGCCCCTCT	0.592											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004cfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3571-3573)CCA>CTA		alpha 1 type V collagen preproprotein							115.0	127.0	123.0					9																	137703228		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137703228C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3572C>T	9.37:g.137703228C>T	ENSP00000360882:p.Pro1191Leu		OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1635		p.P1191L	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	45	3954	+		Myeloproliferative disorder(178;0.0341)	1191			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3572C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630320	0.67015	.	.	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.47	4.47	0.54385	.	0.000000	0.85682	U	0.000000	D	0.97763	0.9266	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98696	1.0698	10	0.66056	D	0.02	.	17.1418	0.86756	0.0:1.0:0.0:0.0	.	1191	P20908	CO5A1_HUMAN	L	1191	ENSP00000360882:P1191L	ENSP00000360882:P1191L	P	+	2	0	COL5A1	136843049	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.696000	0.84270	2.030000	0.59900	0.551000	0.68910	CCA		0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		31	162	0	0	0	0.009535	0	31	162				
SOHLH1	402381	broad.mit.edu	37	9	138589372	138589372	+	Silent	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:138589372C>A	ENST00000298466.5	-	4	507	c.447G>T	c.(445-447)acG>acT	p.T149T	SOHLH1_ENST00000425225.1_Silent_p.T149T	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	149					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T149T(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TGGACGCTCCCGTCCCAGGGT	0.602																																							uc004cgl.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(445-447)ACG>ACT		spermatogenesis and oogenesis specific basic							62.0	54.0	57.0					9																	138589372		2201	4300	6501	SO:0001819	synonymous_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138589372C>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.447G>T	9.37:g.138589372C>A						SOHLH1_uc010nbe.2_Silent_p.T149T	p.T149T	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	4	508	-		Myeloproliferative disorder(178;0.0511)	149					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	c.447G>T	CCDS35174.1																																																																																				0.602	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		7	25	1	0	0.000157383	0.00308	0.000180738	7	25				
ABCA2	20	broad.mit.edu	37	9	139905706	139905706	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:139905706T>A	ENST00000371605.3	-	37	5999	c.5852A>T	c.(5851-5853)tAc>tTc	p.Y1951F	ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1952F|ABCA2_ENST00000265662.5_Missense_Mutation_p.Y1952F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1951					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.Y1952F(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGGTTGTAGTTGGGGAA	0.617																																							uc011mem.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(5851-5853)TAC>TTC		ATP-binding cassette, sub-family A, member 2							52.0	56.0	55.0					9																	139905706		1939	4123	6062	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139905706T>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5852A>T	9.37:g.139905706T>A	ENSP00000360666:p.Tyr1951Phe					ABCA2_uc011mel.1_Missense_Mutation_p.Y1952F|ABCA2_uc004ckl.1_Missense_Mutation_p.Y1882F|ABCA2_uc004ckm.1_Missense_Mutation_p.Y1982F	p.Y1951F	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	37	6000	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1951					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.5852A>T		.	.	.	.	.	.	.	.	.	.	t	4.022	0.001552	0.07819	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.86030	-2.06;-2.06;-2.06	3.1	3.1	0.35709	.	0.000000	0.64402	U	0.000001	T	0.79458	0.4449	N	0.10760	0.04	0.46241	D	0.998944	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.74562	-0.3624	10	0.02654	T	1	.	11.1772	0.48606	0.0:0.0:0.0:1.0	.	1951;1982	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	F	1952;1951;1982;1952	ENSP00000265662:Y1952F;ENSP00000360666:Y1951F;ENSP00000344155:Y1952F	ENSP00000265662:Y1952F	Y	-	2	0	ABCA2	139025527	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.946000	0.49050	1.300000	0.44818	0.235000	0.17854	TAC		0.617	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		15	38	0	0	0	0.00245	0	15	38				
TUBBP5	643224	broad.mit.edu	37	9	141071340	141071340	+	RNA	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:141071340G>A	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5																		TTCCAGGGTCGCATGCCCATG	0.542																																							uc004com.2		NA																	0					0						c.(742-744)CGC>CAC		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071340G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071340G>A						TUBBP5_uc010ncq.2_3'UTR	p.R248H							4	1004	+									Missense_Mutation	SNP	ENST00000503395.1	37	c.743G>A																																																																																					0.542	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		9	120	0	0	0	0.001368	0	9	120				
MXRA5	25878	broad.mit.edu	37	X	3235987	3235987	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:3235987G>T	ENST00000217939.6	-	6	5889	c.5735C>A	c.(5734-5736)aCc>aAc	p.T1912N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1912	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)		p.T1912N(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TATCACTAAGGTACCGTTCTT	0.498																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5734-5736)ACC>AAC		adlican precursor							71.0	52.0	58.0					X																	3235987		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235987G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5735C>A	X.37:g.3235987G>T	ENSP00000217939:p.Thr1912Asn						p.T1912N	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	5892	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1912			Ig-like C2-type 3.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5735C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.772862	0.49680	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70516	-0.49	3.22	3.22	0.36961	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35838	U	0.002948	T	0.80476	0.4630	L	0.58810	1.83	0.40046	D	0.975715	D	0.89917	1.0	D	0.79784	0.993	D	0.83394	0.0019	10	0.72032	D	0.01	.	14.3589	0.66757	0.0:0.0:1.0:0.0	.	1912	Q9NR99	MXRA5_HUMAN	N	1912	ENSP00000217939:T1912N	ENSP00000217939:T1912N	T	-	2	0	MXRA5	3245987	1.000000	0.71417	0.046000	0.18839	0.436000	0.31835	6.595000	0.74109	1.239000	0.43787	0.529000	0.55759	ACC		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		13	16	1	0	1.5842e-08	0.001855	2.18022e-08	13	16				
AMELX	265	broad.mit.edu	37	X	11316996	11316996	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:11316996T>A	ENST00000380714.3	+	5	541	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.L142Q|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.L172Q	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	158					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.L172Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCCACCTCTGCCTCCGATG	0.642																																							uc004cut.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CTG>CAG		amelogenin (X chromosome) isoform 1 precursor							47.0	40.0	42.0					X																	11316996		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316996T>A		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.473T>A	X.37:g.11316996T>A	ENSP00000370090:p.Leu158Gln					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.L172Q|AMELX_uc004cuu.2_Missense_Mutation_p.L142Q	p.L158Q	NM_001142	NP_001133	Q99217	AMELX_HUMAN			5	541	+			158					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.473T>A	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	T	5.890	0.348331	0.11126	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	.	.	.	4.85	4.85	0.62838	.	0.417481	0.20457	N	0.091970	T	0.48714	0.1515	M	0.85542	2.76	0.32591	N	0.527221	B;B;P	0.40794	0.343;0.395;0.729	B;B;B	0.42959	0.281;0.403;0.281	T	0.56529	-0.7964	9	0.12430	T	0.62	-3.2559	4.7466	0.13040	0.0:0.1003:0.1912:0.7085	.	142;158;172	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	Q	158;172;142	.	ENSP00000335312:L142Q	L	+	2	0	AMELX	11226917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.899000	0.39818	1.737000	0.51674	0.339000	0.21740	CTG		0.642	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		9	3	0	0	0	0.004482	0	9	3				
KLHL34	257240	broad.mit.edu	37	X	21674113	21674113	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:21674113G>A	ENST00000379499.2	-	1	2335	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	598						extracellular space (GO:0005615)		p.D598D(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AACGGTCCAGGTCGAGGTCGT	0.711																																							uc004czz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1792-1794)GAC>GAT		kelch-like 34							43.0	31.0	35.0					X																	21674113		2203	4298	6501	SO:0001819	synonymous_variant	257240							g.chrX:21674113G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1794C>T	X.37:g.21674113G>A							p.D598D	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	2336	-			598			Kelch 6.			Silent	SNP	ENST00000379499.2	37	c.1794C>T	CCDS14199.1																																																																																				0.711	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		5	13	0	0	0	0.000602	0	5	13				
DDX53	168400	broad.mit.edu	37	X	23020012	23020012	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:23020012G>T	ENST00000327968.5	+	1	1926	c.1838G>T	c.(1837-1839)aGa>aTa	p.R613I	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	613						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.R613I(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGAGGCACAGAGAAACACGA	0.383																																							uc004daj.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(1837-1839)AGA>ATA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							49.0	48.0	48.0					X																	23020012		2203	4298	6501	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23020012G>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1838G>T	X.37:g.23020012G>T	ENSP00000368667:p.Arg613Ile						p.R613I	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1926	+			613					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1838G>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877459	0.17395	.	.	ENSG00000184735	ENST00000327968	T	0.22134	1.97	4.73	-5.99	0.02213	.	2.677580	0.01640	N	0.024014	T	0.11196	0.0273	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14839	-1.0458	10	0.38643	T	0.18	-13.0161	0.2954	0.00265	0.3484:0.1373:0.1948:0.3196	.	613	Q86TM3	DDX53_HUMAN	I	613	ENSP00000368667:R613I	ENSP00000368667:R613I	R	+	2	0	DDX53	22929933	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.385000	0.02540	-1.102000	0.03023	-0.441000	0.05720	AGA		0.383	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		11	20	1	0	6.40141e-05	0.000978	7.49101e-05	11	20				
SUPT20HL2	170067	broad.mit.edu	37	X	24330937	24330937	+	IGR	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:24330937G>T								AC096509.1 (26143 upstream) : AC004552.1 (35988 downstream)														p.L276I(1)									GGACGTAGAAGAATATGCCTG	0.453																																							uc011mjw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CTT>ATT		family with sequence similarity 48, member B2							216.0	167.0	182.0					X																	24330937		1568	3582	5150	SO:0001628	intergenic_variant	170067							g.chrX:24330937G>T																													X.37:g.24330937G>T							p.L166I	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	496	-			166						Missense_Mutation	SNP		37	c.496C>A																																																																																				0	0.453									40	75	1	0	2.66277e-13	0.006999	4.14627e-13	40	75				
NR0B1	190	broad.mit.edu	37	X	30327199	30327199	+	Silent	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:30327199C>G	ENST00000378970.4	-	1	516	c.282G>C	c.(280-282)ccG>ccC	p.P94P	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Silent_p.P94P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P94P(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687																																							uc004dcf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(280-282)CCG>CCC		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						27.0	26.0	26.0					X																	30327199		2195	4290	6485	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327199C>G	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.282G>C	X.37:g.30327199C>G							p.P94P	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	297	-			94			4 X 67 AA tandem repeats.|2.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.282G>C	CCDS14223.1																																																																																				0.687	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		3	31	0	0	0	0.004672	0	3	31				
GK	2710	broad.mit.edu	37	X	30726207	30726207	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:30726207G>A	ENST00000378943.3	+	12	1092	c.913G>A	c.(913-915)Gct>Act	p.A305T	GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.A311T|GK_ENST00000427190.1_Missense_Mutation_p.A106T|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.A305T	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	311					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.A305T(1)		central_nervous_system(1)|large_intestine(3)	4						CACCACAGTGGCTTACAAACT	0.303																																							uc004dch.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(931-933)GCT>ACT		glycerol kinase isoform a							63.0	59.0	60.0					X																	30726207		2202	4297	6499	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30726207G>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.913G>A	X.37:g.30726207G>A	ENSP00000368226:p.Ala305Thr					GK_uc010ngj.2_Missense_Mutation_p.A305T|GK_uc004dci.3_Missense_Mutation_p.A305T|GK_uc011mjz.1_Missense_Mutation_p.A106T|GK_uc011mka.1_Missense_Mutation_p.A148T|GK_uc010ngk.2_Missense_Mutation_p.A100T	p.A311T	NM_203391	NP_976325	P32189	GLPK_HUMAN			13	1110	+			311					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.931G>A	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928523	0.92389	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.75	5.75	0.90469	Carbohydrate kinase, FGGY, C-terminal (1);	0.099394	0.64402	D	0.000002	D	0.96334	0.8804	M	0.89534	3.04	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.999	D;D;D;D;D	0.79784	0.993;0.99;0.983;0.983;0.99	D	0.96933	0.9682	10	0.87932	D	0	.	18.4997	0.90877	0.0:0.0:1.0:0.0	.	148;311;305;305;311	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	T	311;305;311;305;106;148	ENSP00000368229:A311T;ENSP00000368226:A305T;ENSP00000368228:A305T;ENSP00000401720:A106T	ENSP00000368226:A305T	A	+	1	0	GK	30636128	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.965000	0.87945	2.410000	0.81850	0.594000	0.82650	GCT		0.303	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		6	34	0	0	0	0.001984	0	6	34				
FAM47C	442444	broad.mit.edu	37	X	37028486	37028486	+	Missense_Mutation	SNP	C	C	A	rs142735792	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:37028486C>A	ENST00000358047.3	+	1	2055	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	668								p.P668Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCCCCCGGAGCCCCCC	0.642																																							uc004ddl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2002-2004)CCG>CAG		hypothetical protein LOC442444							19.0	22.0	21.0					X																	37028486		2147	4241	6388	SO:0001583	missense	442444							g.chrX:37028486C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2003C>A	X.37:g.37028486C>A	ENSP00000367913:p.Pro668Gln						p.P668Q	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2017	+			668					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2003C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	11.89	1.772771	0.31411	.	.	ENSG00000198173	ENST00000358047	T	0.22945	1.93	1.41	-0.0269	0.13928	.	.	.	.	.	T	0.43389	0.1245	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.15867	-1.0422	9	0.56958	D	0.05	.	6.358	0.21412	0.0:0.6906:0.3093:0.0	.	668	Q5HY64	FA47C_HUMAN	Q	668	ENSP00000367913:P668Q	ENSP00000367913:P668Q	P	+	2	0	FAM47C	36938407	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.663000	0.01968	0.603000	0.29913	0.418000	0.28097	CCG		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		14	20	1	0	1.02788e-11	0.00499	1.54584e-11	14	20				
SSX7	280658	broad.mit.edu	37	X	52677375	52677375	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:52677375G>A	ENST00000298181.5	-	6	560	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.N134N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GTTTCCCATCGTTCTGTGAGC	0.468																																							uc004dqx.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(400-402)AAC>AAT		synovial sarcoma, X breakpoint 7							239.0	210.0	220.0					X																	52677375		2203	4300	6503	SO:0001819	synonymous_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52677375G>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.402C>T	X.37:g.52677375G>A							p.N134N	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			6	561	-	Ovarian(276;0.236)		134						Silent	SNP	ENST00000298181.5	37	c.402C>T	CCDS14343.1																																																																																				0.468	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		76	136	0	0	0	0.00361	0	76	136				
TRO	7216	broad.mit.edu	37	X	54956381	54956381	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:54956381C>A	ENST00000173898.7	+	12	3336	c.3224C>A	c.(3223-3225)aCc>aAc	p.T1075N	TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.T678N|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T606N|TRO_ENST00000375022.4_Intron|SNORA11_ENST00000408823.1_RNA	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1075	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T1075N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCCGTCAGCACCAGTGCCAGC	0.577																																							uc004dtq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3223-3225)ACC>AAC		trophinin isoform 5							28.0	27.0	27.0					X																	54956381		2040	4171	6211	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956381C>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3224C>A	X.37:g.54956381C>A	ENSP00000173898:p.Thr1075Asn					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.T606N|TRO_uc004dtw.2_Missense_Mutation_p.T678N|TRO_uc004dtx.2_Missense_Mutation_p.T458N	p.T1075N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	3331	+			1075			62 X 10 AA approximate tandem repeats.|27; approximate.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.3224C>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538114	0.27475	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.13901	2.55;2.55;2.55	2.79	-1.77	0.07982	.	.	.	.	.	T	0.22742	0.0549	L	0.52573	1.65	0.09310	N	1	D;P	0.63880	0.993;0.473	D;B	0.72338	0.977;0.13	T	0.14643	-1.0465	9	0.87932	D	0	.	2.5201	0.04678	0.1695:0.3832:0.3298:0.1175	.	678;1075	B1AKE9;Q12816	.;TROP_HUMAN	N	1075;606;678	ENSP00000173898:T1075N;ENSP00000405126:T606N;ENSP00000364181:T678N	ENSP00000173898:T1075N	T	+	2	0	TRO	54973106	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.442000	0.06871	-0.597000	0.05813	0.479000	0.44913	ACC		0.577	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		8	13	1	0	0.000157383	0.00308	0.000180738	8	13				
FOXR2	139628	broad.mit.edu	37	X	55651049	55651049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:55651049C>A	ENST00000339140.3	+	1	1217	c.905C>A	c.(904-906)cCa>cAa	p.P302Q		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	302					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P302Q(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGAGTCAGCCAGAGTTGTTG	0.483																																							uc004duo.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(904-906)CCA>CAA		forkhead box R2							128.0	98.0	108.0					X																	55651049		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55651049C>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.905C>A	X.37:g.55651049C>A	ENSP00000427329:p.Pro302Gln						p.P302Q	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	1217	+			302						Missense_Mutation	SNP	ENST00000339140.3	37	c.905C>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157520	0.38119	.	.	ENSG00000189299	ENST00000339140	D	0.97906	-4.6	3.54	2.65	0.31530	.	0.170048	0.36893	N	0.002344	D	0.97870	0.9300	M	0.62723	1.935	0.48341	D	0.999634	D	0.89917	1.0	D	0.97110	1.0	D	0.97400	0.9995	10	0.72032	D	0.01	.	9.3707	0.38252	0.2149:0.785:0.0:0.0	.	302	Q6PJQ5	FOXR2_HUMAN	Q	302	ENSP00000427329:P302Q	ENSP00000427329:P302Q	P	+	2	0	FOXR2	55667774	0.989000	0.36119	0.019000	0.16419	0.333000	0.28666	2.120000	0.41968	0.838000	0.34948	0.600000	0.82982	CCA		0.483	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		14	26	1	0	0.000219431	0.00245	0.000251245	14	26				
STARD8	9754	broad.mit.edu	37	X	67937280	67937280	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:67937280C>A	ENST00000252336.6	+	5	656	c.284C>A	c.(283-285)cCa>cAa	p.P95Q	STARD8_ENST00000374599.3_Missense_Mutation_p.P175Q|STARD8_ENST00000374597.3_Missense_Mutation_p.P95Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	95					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.P95Q(2)|p.P175Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGCCCTTGCCAGGCCGTGCC	0.657																																							uc004dxa.2		NA																	3	Substitution - Missense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(283-285)CCA>CAA		StAR-related lipid transfer (START) domain							49.0	41.0	44.0					X																	67937280		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937280C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.284C>A	X.37:g.67937280C>A	ENSP00000252336:p.Pro95Gln					STARD8_uc004dxb.2_Missense_Mutation_p.P175Q|STARD8_uc004dxc.3_Missense_Mutation_p.P95Q	p.P95Q	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	656	+			95					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.284C>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	c	0.683	-0.797640	0.02862	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07688	3.17;3.2;3.17	3.93	-1.26	0.09376	.	2.080400	0.02101	N	0.053976	T	0.06826	0.0174	L	0.36672	1.1	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.11329	0.006;0.003	T	0.33904	-0.9850	10	0.13470	T	0.59	.	4.1362	0.10172	0.2013:0.479:0.0:0.3197	.	175;95	Q92502-2;Q92502	.;STAR8_HUMAN	Q	95;175;95	ENSP00000252336:P95Q;ENSP00000363727:P175Q;ENSP00000363725:P95Q	ENSP00000252336:P95Q	P	+	2	0	STARD8	67854005	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.217000	0.09253	-0.200000	0.10300	-0.347000	0.07816	CCA		0.657	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		8	13	1	0	0.00307968	0.00308	0.0033804	8	13				
RLIM	51132	broad.mit.edu	37	X	73812542	73812542	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:73812542G>A	ENST00000332687.6	-	4	826	c.608C>T	c.(607-609)cCa>cTa	p.P203L	RLIM_ENST00000349225.2_Missense_Mutation_p.P203L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	203					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P203L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTGGTAGGTGGGACCTCTGT	0.498																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(607-609)CCA>CTA		ring finger protein, LIM domain interacting							178.0	149.0	159.0					X																	73812542		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812542G>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.608C>T	X.37:g.73812542G>A	ENSP00000328059:p.Pro203Leu					RLIM_uc004ebw.2_Missense_Mutation_p.P203L	p.P203L	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	898	-			203					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.608C>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963049	0.34659	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08634	3.07;3.07	6.05	4.29	0.51040	.	0.286819	0.39985	N	0.001205	T	0.10594	0.0259	L	0.53249	1.67	0.19575	N	0.999966	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.87932	D	0	-0.2838	11.8678	0.52503	0.1437:0.0:0.8563:0.0	.	203	Q9NVW2	RNF12_HUMAN	L	203	ENSP00000328059:P203L;ENSP00000253571:P203L	ENSP00000328059:P203L	P	-	2	0	RLIM	73729267	0.997000	0.39634	0.001000	0.08648	0.838000	0.47535	5.163000	0.64948	0.676000	0.31285	0.594000	0.82650	CCA		0.498	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		43	79	0	0	0	0.00361	0	43	79				
P2RY10	27334	broad.mit.edu	37	X	78216452	78216452	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:78216452G>C	ENST00000171757.2	+	4	715	c.435G>C	c.(433-435)aaG>aaC	p.K145N	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.K145N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.K145N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAGACTGGAAGCGTAGGTACG	0.488																																							uc004ede.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(433-435)AAG>AAC		G-protein coupled purinergic receptor P2Y10							106.0	95.0	99.0					X																	78216452		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216452G>C	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.435G>C	X.37:g.78216452G>C	ENSP00000171757:p.Lys145Asn					P2RY10_uc004edf.2_Missense_Mutation_p.K145N	p.K145N	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	804	+			145			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.435G>C	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	9.791	1.178037	0.21787	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.36878	1.23;1.23	4.6	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.057659	0.64402	D	0.000002	T	0.50446	0.1616	M	0.62723	1.935	0.44469	D	0.9974	D	0.71674	0.998	D	0.77004	0.989	T	0.41305	-0.9516	10	0.59425	D	0.04	.	7.2189	0.25975	0.4059:0.0:0.5941:0.0	.	145	O00398	P2Y10_HUMAN	N	145	ENSP00000443138:K145N;ENSP00000171757:K145N	ENSP00000171757:K145N	K	+	3	2	P2RY10	78103108	0.999000	0.42202	0.997000	0.53966	0.001000	0.01503	0.437000	0.21543	0.050000	0.15949	-0.729000	0.03580	AAG		0.488	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			19	58	0	0	0	0.008871	0	19	58				
KLHL4	56062	broad.mit.edu	37	X	86773015	86773015	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:86773015G>T	ENST00000373119.4	+	1	264	c.119G>T	c.(118-120)gGa>gTa	p.G40V	KLHL4_ENST00000373114.4_Missense_Mutation_p.G40V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	40						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G40V(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGCAGGAAGGATATGAGCAT	0.488																																							uc004efb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(118-120)GGA>GTA		kelch-like 4 isoform 1							89.0	78.0	82.0					X																	86773015		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773015G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.119G>T	X.37:g.86773015G>T	ENSP00000362211:p.Gly40Val					KLHL4_uc004efa.2_Missense_Mutation_p.G40V	p.G40V	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			1	301	+			40					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.119G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487915	0.64074	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.75704	-0.96;-0.92	5.05	4.15	0.48705	.	1.414390	0.05060	N	0.479768	T	0.77032	0.4071	M	0.63428	1.95	0.80722	D	1	B;B	0.27971	0.124;0.196	B;B	0.32211	0.099;0.142	T	0.64892	-0.6300	10	0.66056	D	0.02	.	13.6887	0.62533	0.0:0.1503:0.8497:0.0	.	40;40	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	V	40	ENSP00000362211:G40V;ENSP00000362206:G40V	ENSP00000362206:G40V	G	+	2	0	KLHL4	86659671	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.555000	0.73928	2.327000	0.79052	0.513000	0.50165	GGA		0.488	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			22	47	1	0	1.96292e-10	0.010504	2.8626e-10	22	47				
CPXCR1	53336	broad.mit.edu	37	X	88008656	88008656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:88008656C>T	ENST00000276127.4	+	3	500	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.R81*	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	81							metal ion binding (GO:0046872)	p.R81*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AAAAGATCAACGAGAAGAAGA	0.458																																							uc004efd.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(241-243)CGA>TGA		CPX chromosome region, candidate 1							41.0	37.0	38.0					X																	88008656		2203	4300	6503	SO:0001587	stop_gained	53336					intracellular	zinc ion binding	g.chrX:88008656C>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.241C>T	X.37:g.88008656C>T	ENSP00000276127:p.Arg81*					CPXCR1_uc004efc.3_Nonsense_Mutation_p.R81*	p.R81*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	500	+			81					B2R9F9|D3DTE7|Q96RS3	Nonsense_Mutation	SNP	ENST00000276127.4	37	c.241C>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671011	0.67814	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	.	.	.	3.39	2.51	0.30379	.	1.972690	0.02703	N	0.111971	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6131	7.7306	0.28786	0.0:0.7121:0.2879:0.0	.	.	.	.	X	81	.	.	R	+	1	2	CPXCR1	87895312	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.548000	0.23314	0.800000	0.34041	-0.262000	0.10625	CGA		0.458	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		4	11	0	0	0	0.009096	0	4	11				
PCDH11X	27328	broad.mit.edu	37	X	91131875	91131875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:91131875G>T	ENST00000373094.1	+	2	1481	c.636G>T	c.(634-636)aaG>aaT	p.K212N	PCDH11X_ENST00000504220.2_Missense_Mutation_p.K212N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K212N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K212N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K212N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K212N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K212N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K212N(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGGAAGAGAAGGATACCTACG	0.408																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(634-636)AAG>AAT		protocadherin 11 X-linked isoform c							222.0	189.0	200.0					X																	91131875		2203	4299	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131875G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.636G>T	X.37:g.91131875G>T	ENSP00000362186:p.Lys212Asn					PCDH11X_uc004efl.1_Missense_Mutation_p.K212N|PCDH11X_uc004efo.1_Missense_Mutation_p.K212N|PCDH11X_uc010nmv.1_Missense_Mutation_p.K212N|PCDH11X_uc004efm.1_Missense_Mutation_p.K212N|PCDH11X_uc004efn.1_Missense_Mutation_p.K212N|PCDH11X_uc004efh.1_Missense_Mutation_p.K212N|PCDH11X_uc004efj.1_Missense_Mutation_p.K212N	p.K212N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1481	+			212			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.636G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739595	0.30774	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.69	-1.31	0.09230	Cadherin (4);Cadherin-like (1);	0.103708	0.64402	D	0.000006	T	0.59018	0.2163	L	0.55103	1.725	0.41067	D	0.985421	D;D;D;D;D;D;D;D	0.89917	0.999;0.995;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.79108	0.976;0.962;0.987;0.987;0.987;0.992;0.967;0.967	T	0.57359	-0.7825	10	0.72032	D	0.01	.	12.8738	0.57980	0.5568:0.0:0.4432:0.0	.	212;212;212;212;212;212;212;212	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	212	ENSP00000378746:K212N;ENSP00000362186:K212N;ENSP00000362189:K212N;ENSP00000355040:K212N;ENSP00000362180:K212N;ENSP00000423762:K212N;ENSP00000355105:K212N;ENSP00000384758:K212N;ENSP00000298274:K212N	ENSP00000298274:K212N	K	+	3	2	PCDH11X	91018531	1.000000	0.71417	0.946000	0.38457	0.329000	0.28539	0.526000	0.22971	-0.688000	0.05155	-1.195000	0.01675	AAG		0.408	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		36	36	1	0	4.32679e-17	0.006999	7.24267e-17	36	36				
DIAPH2	1730	broad.mit.edu	37	X	96328001	96328001	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:96328001A>C	ENST00000324765.8	+	18	2459	c.2112A>C	c.(2110-2112)aaA>aaC	p.K704N	DIAPH2_ENST00000373049.4_Missense_Mutation_p.K704N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K704N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K700N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.K704N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	704	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.K704N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGAAAGTGAAAGAACTGAGAA	0.378																																							uc004efu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(2110-2112)AAA>AAC		diaphanous 2 isoform 156							95.0	86.0	89.0					X																	96328001		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96328001A>C	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2112A>C	X.37:g.96328001A>C	ENSP00000321348:p.Lys704Asn					DIAPH2_uc004eft.3_Missense_Mutation_p.K704N	p.K704N	NM_006729	NP_006720	O60879	DIAP2_HUMAN			18	2508	+			704			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.2112A>C	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234448	0.58886	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.38	4.23	0.50019	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.83603	2.65	0.43417	D	0.995562	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.99	T	0.65606	-0.6127	10	0.54805	T	0.06	.	6.7767	0.23624	0.8091:0.0:0.1909:0.0	.	704;704	O60879;O60879-2	DIAP2_HUMAN;.	N	704;700;704;704;704;711	ENSP00000362152:K704N;ENSP00000362145:K700N;ENSP00000348082:K704N;ENSP00000362140:K704N;ENSP00000321348:K704N	ENSP00000321348:K704N	K	+	3	2	DIAPH2	96214657	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.454000	0.35178	0.718000	0.32166	0.478000	0.44815	AAA		0.378	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		3	21	0	0	0	0.000602	0	3	21				
PRPS1	5631	broad.mit.edu	37	X	106890894	106890894	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:106890894G>T	ENST00000372435.4	+	6	885	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	PRPS1_ENST00000372418.1_Missense_Mutation_p.G155C|PRPS1_ENST00000372428.4_Missense_Mutation_p.G188C|PRPS1_ENST00000543248.1_Missense_Mutation_p.G255C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	255					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.G255C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						AATCTTCTCCGGTCCTGCTAT	0.443																																							uc004ene.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(1)	4						c.(763-765)GGT>TGT		phosphoribosyl pyrophosphate synthetase 1							155.0	133.0	140.0					X																	106890894		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106890894G>T	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.763G>T	X.37:g.106890894G>T	ENSP00000361512:p.Gly255Cys					PRPS1_uc010npg.2_Missense_Mutation_p.G222C|PRPS1_uc011msj.1_Missense_Mutation_p.G51C	p.G255C	NM_002764	NP_002755	P60891	PRPS1_HUMAN			6	968	+			255					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.763G>T	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881513	0.72294	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;T	0.92446	-3.04;-3.04;-3.04;-0.66	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.97592	0.9211	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98771	1.0728	10	0.87932	D	0	.	14.6655	0.68904	0.0:0.0:1.0:0.0	.	255;255	Q53FW2;P60891	.;PRPS1_HUMAN	C	255;188;255;155	ENSP00000361512:G255C;ENSP00000361505:G188C;ENSP00000443185:G255C;ENSP00000361495:G155C	ENSP00000361495:G155C	G	+	1	0	PRPS1	106777550	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.128000	0.94424	2.118000	0.64928	0.600000	0.82982	GGT		0.443	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			28	66	1	0	1.39806e-14	0.008361	2.2521e-14	28	66				
COL4A5	1287	broad.mit.edu	37	X	107814669	107814669	+	Silent	SNP	C	C	G	rs375056297		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:107814669C>G	ENST00000361603.2	+	7	655	c.411C>G	c.(409-411)ccC>ccG	p.P137P	COL4A5_ENST00000328300.6_Silent_p.P137P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	137	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P137P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAGGCAGTCCCGGTTTTCCTG	0.393									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(409-411)CCC>CCG		type IV collagen alpha 5 isoform 2 precursor							151.0	158.0	155.0					X																	107814669		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107814669C>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.411C>G	X.37:g.107814669C>G						COL4A5_uc011mso.1_Silent_p.P137P	p.P137P	NM_033380	NP_203699	P29400	CO4A5_HUMAN			7	613	+			137			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.411C>G	CCDS14543.1																																																																																				0.393	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			50	127	0	0	0	0.00361	0	50	127				
TRPC5	7224	broad.mit.edu	37	X	111155894	111155894	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:111155894G>T	ENST00000262839.2	-	3	1443	c.525C>A	c.(523-525)cgC>cgA	p.R175R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	175					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R175R(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACAGTTGCAGCGGATCTGGT	0.537																																							uc004epl.1		NA																	1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(523-525)CGC>CGA		transient receptor potential cation channel,							111.0	98.0	102.0					X																	111155894		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155894G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.525C>A	X.37:g.111155894G>T						TRPC5_uc004epm.1_Silent_p.R175R	p.R175R	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			3	1444	-			175			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.525C>A	CCDS14561.1																																																																																				0.537	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		26	35	1	0	4.72057e-08	0.003954	6.2941e-08	26	35				
SLC25A43	203427	broad.mit.edu	37	X	118544216	118544216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:118544216G>T	ENST00000217909.7	+	3	925	c.581G>T	c.(580-582)gGa>gTa	p.G194V	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Intron	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	194					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.G194V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						ATCTGGAACGGACCCCGAGAT	0.527																																							uc004erd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(580-582)GGA>GTA		mitochondrial solute carrier protein							151.0	132.0	138.0					X																	118544216		2203	4300	6503	SO:0001583	missense	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118544216G>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.581G>T	X.37:g.118544216G>T	ENSP00000217909:p.Gly194Val					SLC25A43_uc004erc.1_RNA|SLC25A43_uc011mtt.1_Intron	p.G194V	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN			3	925	+			194					O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	c.581G>T	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345624	0.24426	.	.	ENSG00000077713	ENST00000217909;ENST00000326714	T	0.80393	-1.37	5.3	3.51	0.40186	Mitochondrial carrier domain (2);	0.056211	0.64402	D	0.000002	T	0.60573	0.2279	N	0.14661	0.345	0.80722	D	1	B	0.26902	0.163	B	0.23419	0.046	T	0.52749	-0.8534	10	0.30078	T	0.28	.	5.2316	0.15424	0.4079:0.0:0.5921:0.0	.	194	Q8WUT9	S2543_HUMAN	V	194;142	ENSP00000217909:G194V	ENSP00000217909:G194V	G	+	2	0	SLC25A43	118428244	1.000000	0.71417	0.776000	0.31678	0.879000	0.50718	4.788000	0.62439	1.011000	0.39340	0.436000	0.28706	GGA		0.527	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		50	51	1	0	5.13769e-22	0.00361	8.99095e-22	50	51				
SLC25A14	9016	broad.mit.edu	37	X	129492640	129492640	+	Silent	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:129492640G>A	ENST00000218197.5	+	6	752	c.525G>A	c.(523-525)ttG>ttA	p.L175L	SLC25A14_ENST00000545805.1_Silent_p.L175L|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L172L|SLC25A14_ENST00000339231.3_Silent_p.L172L|SLC25A14_ENST00000543953.1_Silent_p.L140L	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	175					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.L175L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AAGGAAGCTTGTTCCAAGGGA	0.383																																							uc004evn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(523-525)TTG>TTA		solute carrier family 25, member 14 isoform							114.0	103.0	107.0					X																	129492640		2203	4300	6503	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129492640G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.525G>A	X.37:g.129492640G>A						SLC25A14_uc011mut.1_Missense_Mutation_p.V112I|SLC25A14_uc011muu.1_Silent_p.L175L|SLC25A14_uc010nrg.2_Silent_p.L172L|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Silent_p.L175L|SLC25A14_uc004evq.1_Silent_p.L172L|SLC25A14_uc004evr.1_Silent_p.L172L	p.L175L	NM_003951	NP_003942	O95258	UCP5_HUMAN			7	738	+			175			Solcar 2.		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.525G>A	CCDS14623.1																																																																																				0.383	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		24	39	0	0	0	0.008361	0	24	39				
ARHGAP36	158763	broad.mit.edu	37	X	130215686	130215686	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:130215686C>A	ENST00000276211.5	+	2	392	c.47C>A	c.(46-48)cCc>cAc	p.P16H	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	16					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P16H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCACTGTGCCCCAGAATCATG	0.527																																							uc004evz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(46-48)CCC>CAC		hypothetical protein LOC158763 precursor							162.0	113.0	130.0					X																	130215686		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215686C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.47C>A	X.37:g.130215686C>A	ENSP00000276211:p.Pro16His					ARHGAP36_uc004ewa.2_Intron|ARHGAP36_uc004ewb.2_Intron|ARHGAP36_uc004ewc.2_5'Flank	p.P16H	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			2	392	+			16					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.47C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818577	0.32145	.	.	ENSG00000147256	ENST00000276211	T	0.12147	2.71	4.16	3.3	0.37823	.	0.520985	0.16349	N	0.218313	T	0.06600	0.0169	N	0.08118	0	0.80722	D	1	B	0.32918	0.39	B	0.30179	0.112	T	0.29458	-1.0011	10	0.87932	D	0	.	6.7915	0.23701	0.0:0.8727:0.0:0.1273	.	16	Q6ZRI8	RHG36_HUMAN	H	16	ENSP00000276211:P16H	ENSP00000276211:P16H	P	+	2	0	ARHGAP36	130043367	1.000000	0.71417	0.947000	0.38551	0.946000	0.59487	2.123000	0.41996	1.107000	0.41642	0.544000	0.68410	CCC		0.527	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		39	57	1	0	1.49673e-21	0.00623	2.61038e-21	39	57				
GPC3	2719	broad.mit.edu	37	X	133087218	133087218	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:133087218G>T	ENST00000370818.3	-	2	641	c.196C>A	c.(196-198)Ctc>Atc	p.L66I	GPC3_ENST00000394299.2_Missense_Mutation_p.L66I|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	66					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.L66I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCCTTAGGGAGACATACTTGC	0.468			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																														uc004exe.1		NA	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(196-198)CTC>ATC		glypican 3 isoform 2 precursor							243.0	200.0	214.0					X																	133087218		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133087218G>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.196C>A	X.37:g.133087218G>T	ENSP00000359854:p.Leu66Ile					GPC3_uc010nrn.1_Missense_Mutation_p.L66I|GPC3_uc011mvh.1_Missense_Mutation_p.L66I|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR	p.L66I	NM_004484	NP_004475	P51654	GPC3_HUMAN			2	386	-	Acute lymphoblastic leukemia(192;0.000127)		66					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.196C>A	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785960	0.16189	.	.	ENSG00000147257	ENST00000370818;ENST00000394299	T;T	0.54866	0.55;0.55	5.3	3.44	0.39384	.	0.300749	0.29113	N	0.013118	T	0.23410	0.0566	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.14012	0.002;0.009;0.001	B;B;B	0.14023	0.01;0.01;0.007	T	0.11421	-1.0588	10	0.11182	T	0.66	.	6.3366	0.21298	0.0:0.2591:0.3587:0.3821	.	66;66;66	B4DTD8;C9JLE3;P51654	.;.;GPC3_HUMAN	I	66	ENSP00000359854:L66I;ENSP00000377836:L66I	ENSP00000359854:L66I	L	-	1	0	GPC3	132914884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.498000	0.22530	2.197000	0.70478	0.506000	0.49869	CTC		0.468	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		57	66	1	0	1.67886e-27	0.00361	3.0597e-27	57	66				
GPR112	139378	broad.mit.edu	37	X	135487937	135487937	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:135487937G>T	ENST00000394143.1	+	23	9032	c.8741G>T	c.(8740-8742)tGc>tTc	p.C2914F	GPR112_ENST00000370652.1_Missense_Mutation_p.C2914F|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667F|GPR112_ENST00000394141.1_Missense_Mutation_p.C2709F|GPR112_ENST00000412101.1_Missense_Mutation_p.C2709F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2914					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C2914F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTCTGCACTGTTCTT	0.398																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8740-8742)TGC>TTC		G-protein coupled receptor 112							169.0	143.0	152.0					X																	135487937		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135487937G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8741G>T	X.37:g.135487937G>T	ENSP00000377699:p.Cys2914Phe					GPR112_uc010nsb.1_Missense_Mutation_p.C2709F	p.C2914F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			23	9032	+	Acute lymphoblastic leukemia(192;0.000127)		2914			Cytoplasmic (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8741G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862020	0.51482	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.71	2.59	0.31030	GPCR, family 2-like (1);	.	.	.	.	T	0.25269	0.0614	N	0.01257	-0.925	0.29214	N	0.874417	B;B	0.34372	0.451;0.425	B;P	0.45406	0.316;0.479	T	0.37526	-0.9702	9	0.62326	D	0.03	.	10.6106	0.45419	0.0:0.0:0.3484:0.6516	.	2709;2914	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	F	2914;2914;2709;2667;2709	ENSP00000377699:C2914F;ENSP00000359686:C2914F;ENSP00000416526:C2709F;ENSP00000287534:C2667F;ENSP00000377697:C2709F	ENSP00000287534:C2667F	C	+	2	0	GPR112	135315603	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	5.234000	0.65343	0.905000	0.36596	-0.178000	0.13098	TGC		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			37	39	1	0	9.8876e-21	0.004878	1.71089e-20	37	39				
CD40LG	959	broad.mit.edu	37	X	135741286	135741286	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:135741286A>C	ENST00000370629.2	+	5	554	c.498A>C	c.(496-498)caA>caC	p.Q166H	CD40LG_ENST00000370628.2_Missense_Mutation_p.Q145H	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	166					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.Q166H(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TTAAAAGACAAGGACTCTATT	0.453									Immune Deficiency with Hyper-IgM																														uc004faa.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(496-498)CAA>CAC		CD40 ligand	Atorvastatin(DB01076)						233.0	236.0	235.0					X																	135741286		2203	4300	6503	SO:0001583	missense	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741286A>C	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.498A>C	X.37:g.135741286A>C	ENSP00000359663:p.Gln166His					CD40LG_uc010nsd.2_Missense_Mutation_p.Q145H	p.Q166H	NM_000074	NP_000065	P29965	CD40L_HUMAN			5	570	+	Acute lymphoblastic leukemia(192;0.000127)		166			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370629.2	37	c.498A>C	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128559	0.56721	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.97870	-4.58;-4.58	5.56	4.41	0.53225	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.335566	0.30658	N	0.009156	D	0.93625	0.7964	N	0.22421	0.69	0.27968	N	0.936519	P;P	0.46220	0.812;0.874	B;B	0.43783	0.368;0.431	D	0.89288	0.3617	10	0.46703	T	0.11	-10.0313	5.3675	0.16121	0.7577:0.0:0.084:0.1582	.	145;166	Q3L8U2;P29965	.;CD40L_HUMAN	H	166;145	ENSP00000359663:Q166H;ENSP00000359662:Q145H	ENSP00000359662:Q145H	Q	+	3	2	CD40LG	135568952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.180000	0.50895	1.865000	0.54081	0.486000	0.48141	CAA		0.453	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		116	177	0	0	0	0.00361	0	116	177				
GPR101	83550	broad.mit.edu	37	X	136113092	136113092	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:136113092C>G	ENST00000298110.1	-	1	741	c.742G>C	c.(742-744)Gag>Cag	p.E248Q		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.E248Q(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCTGCTCCCTCTTCATCCTCA	0.547																																							uc011mwh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(742-744)GAG>CAG		G protein-coupled receptor 101							145.0	127.0	133.0					X																	136113092		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113092C>G	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.742G>C	X.37:g.136113092C>G	ENSP00000298110:p.Glu248Gln						p.E248Q	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	742	-	Acute lymphoblastic leukemia(192;0.000127)		248			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.742G>C	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.363008	0.01235	.	.	ENSG00000165370	ENST00000298110	T	0.64991	-0.13	4.76	-0.453	0.12201	GPCR, rhodopsin-like superfamily (1);	0.806464	0.10125	N	0.712846	T	0.44623	0.1302	L	0.40543	1.245	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.26121	-1.0112	10	0.14656	T	0.56	0.0235	3.9227	0.09250	0.1633:0.3183:0.4245:0.0939	.	248	Q96P66	GP101_HUMAN	Q	248	ENSP00000298110:E248Q	ENSP00000298110:E248Q	E	-	1	0	GPR101	135940758	0.097000	0.21791	0.000000	0.03702	0.324000	0.28378	0.835000	0.27531	-0.501000	0.06605	0.600000	0.82982	GAG		0.547	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			16	139	0	0	0	0.006122	0	16	139				
F9	2158	broad.mit.edu	37	X	138623303	138623303	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:138623303G>A	ENST00000218099.2	+	4	353	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Intron	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	116	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.E116K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TAATTCCTATGAATGTTGGTG	0.368																																							uc004fas.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(346-348)GAA>AAA		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						210.0	168.0	182.0					X																	138623303		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138623303G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.346G>A	X.37:g.138623303G>A	ENSP00000218099:p.Glu116Lys					F9_uc004fat.1_Intron	p.E116K	NM_000133	NP_000124	P00740	FA9_HUMAN			4	375	+	Acute lymphoblastic leukemia(192;0.000127)		116			EGF-like 1; calcium-binding (Potential).		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.346G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626521	0.87560	.	.	ENSG00000101981	ENST00000218099	D	0.92099	-2.97	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.404958	0.28700	N	0.014434	D	0.83487	0.5265	N	0.03917	-0.325	0.80722	D	1	B	0.30793	0.295	B	0.32677	0.15	T	0.83050	-0.0153	10	0.45353	T	0.12	.	16.2666	0.82588	0.0:0.0:1.0:0.0	.	116	P00740	FA9_HUMAN	K	116	ENSP00000218099:E116K	ENSP00000218099:E116K	E	+	1	0	F9	138450969	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	2.960000	0.49161	2.445000	0.82738	0.594000	0.82650	GAA		0.368	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			4	49	0	0	0	0.009096	0	4	49				
MAGEC1	9947	broad.mit.edu	37	X	140995906	140995906	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:140995906T>A	ENST00000285879.4	+	4	3002	c.2716T>A	c.(2716-2718)Tat>Aat	p.Y906N	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	906								p.Y906N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTTCACTTATACACTGGA	0.468										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2716-2718)TAT>AAT		melanoma antigen family C, 1							174.0	174.0	174.0					X																	140995906		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995906T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2716T>A	X.37:g.140995906T>A	ENSP00000285879:p.Tyr906Asn	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.Y906N	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3002	+	Acute lymphoblastic leukemia(192;6.56e-05)		906					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2716T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	6.565	0.472495	0.12461	.	.	ENSG00000155495	ENST00000285879	T	0.01933	4.55	1.14	-2.27	0.06846	.	.	.	.	.	T	0.00936	0.0031	N	0.11064	0.09	0.09310	N	0.999999	P	0.38110	0.618	B	0.28638	0.092	T	0.48906	-0.8993	9	0.16420	T	0.52	.	4.2591	0.10732	0.0:0.4948:0.0:0.5052	.	906	O60732	MAGC1_HUMAN	N	906	ENSP00000285879:Y906N	ENSP00000285879:Y906N	Y	+	1	0	MAGEC1	140823572	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.881000	0.04179	-0.645000	0.05458	-0.836000	0.03065	TAT		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		35	163	0	0	0	0.003755	0	35	163				
SLITRK4	139065	broad.mit.edu	37	X	142718172	142718172	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:142718172C>G	ENST00000381779.4	-	2	978	c.753G>C	c.(751-753)agG>agC	p.R251S	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R251S|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R251S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	251	LRRCT 1.					integral component of membrane (GO:0016021)		p.R251S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTAAAAGCCTTCCATATA	0.443																																							uc004fbx.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(751-753)AGG>AGC		slit and trk like 4 protein precursor							69.0	62.0	64.0					X																	142718172		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718172C>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.753G>C	X.37:g.142718172C>G	ENSP00000371198:p.Arg251Ser					SLITRK4_uc004fby.2_Missense_Mutation_p.R251S	p.R251S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1129	-	Acute lymphoblastic leukemia(192;6.56e-05)		251			Extracellular (Potential).|LRRCT 1.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.753G>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	7.779	0.709134	0.15239	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57752	0.38;0.38;0.38	5.64	2.92	0.33932	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.40543	1.245	0.58432	D	0.999996	P	0.37663	0.604	B	0.34590	0.186	T	0.07790	-1.0754	10	0.32370	T	0.25	-9.111	5.7888	0.18349	0.0:0.6218:0.1356:0.2426	.	251	Q8IW52	SLIK4_HUMAN	S	251	ENSP00000371198:R251S;ENSP00000349400:R251S;ENSP00000336627:R251S	ENSP00000336627:R251S	R	-	3	2	SLITRK4	142545838	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.232000	0.32636	0.559000	0.29153	-0.191000	0.12829	AGG		0.443	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		14	21	0	0	0	0.001855	0	14	21				
SPANXN2	494119	broad.mit.edu	37	X	142803913	142803913	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:142803913T>A	ENST00000370498.1	-	0	603					NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCTTGAGCTTTGTTTGATC	0.542																																							uc004fbz.2		NA																	0				ovary(1)	1						c.(-152--148)AAAGC>AATGC		SPANX-N2 protein																																						494119							g.chrX:142803913T>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.-151A>T	X.37:g.142803913T>A								NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			1	604	-	Acute lymphoblastic leukemia(192;6.56e-05)							Q0ZNM2	Translation_Start_Site	SNP	ENST00000370498.1	37	c.-150A>T	CCDS35419.1																																																																																				0.542	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		5	6	0	0	0	0.000602	0	5	6				
MTMR1	8776	broad.mit.edu	37	X	149901077	149901077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:149901077G>T	ENST00000370390.3	+	9	1088	c.931G>T	c.(931-933)Ggt>Tgt	p.G311C	MTMR1_ENST00000451863.2_Missense_Mutation_p.G311C|MTMR1_ENST00000541925.1_Missense_Mutation_p.G217C|MTMR1_ENST00000445323.2_Missense_Mutation_p.G319C|MTMR1_ENST00000544228.1_Missense_Mutation_p.G311C|MTMR1_ENST00000542156.1_Missense_Mutation_p.G311C|MTMR1_ENST00000538506.1_Missense_Mutation_p.G198C	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	311	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.G311C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACTTGTGGGTCCCAATGA	0.418																																							uc004fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)GGT>TGT		myotubularin-related protein 1							82.0	70.0	74.0					X																	149901077		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149901077G>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.931G>T	X.37:g.149901077G>T	ENSP00000359417:p.Gly311Cys					MTMR1_uc011mya.1_Missense_Mutation_p.G217C|MTMR1_uc004feg.1_Missense_Mutation_p.G311C|MTMR1_uc004feh.1_Missense_Mutation_p.G319C|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	p.G311C	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			9	1066	+	Acute lymphoblastic leukemia(192;6.56e-05)		311			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.931G>T	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025202	0.93518	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.93	5.93	0.95920	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	H	0.99435	4.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99655	1.0992	10	0.87932	D	0	.	19.2892	0.94092	0.0:0.0:1.0:0.0	.	311;319;311	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	C	217;311;311;319;311;311;198	ENSP00000441879:G217C;ENSP00000445281:G311C;ENSP00000359417:G311C;ENSP00000414178:G319C;ENSP00000440534:G311C;ENSP00000387446:G311C;ENSP00000443444:G198C	ENSP00000359417:G311C	G	+	1	0	MTMR1	149651735	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.508000	0.84585	0.523000	0.50628	GGT		0.418	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		8	15	1	0	2.17888e-05	0.006214	2.60114e-05	8	15				
CNGA2	1260	broad.mit.edu	37	X	150912786	150912786	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:150912786T>A	ENST00000329903.4	+	6	1844	c.1811T>A	c.(1810-1812)cTg>cAg	p.L604Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	604					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L604Q(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGGGCAGCTGGAGACCAAC	0.582																																							uc004fey.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1810-1812)CTG>CAG		cyclic nucleotide gated channel alpha 2							193.0	146.0	162.0					X																	150912786		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912786T>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1811T>A	X.37:g.150912786T>A	ENSP00000328478:p.Leu604Gln						p.L604Q	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	2035	+	Acute lymphoblastic leukemia(192;6.56e-05)		604			Cytoplasmic (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1811T>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795447	0.70452	.	.	ENSG00000183862	ENST00000329903	D	0.97941	-4.62	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	D	0.98033	0.9352	M	0.80183	2.485	0.58432	D	0.99999	D	0.57899	0.981	P	0.55161	0.77	D	0.98389	1.0562	10	0.87932	D	0	.	12.3269	0.55015	0.0:0.0:0.0:1.0	.	604	Q16280	CNGA2_HUMAN	Q	604	ENSP00000328478:L604Q	ENSP00000328478:L604Q	L	+	2	0	CNGA2	150663442	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.816000	0.52996	0.486000	0.48141	CTG		0.582	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		29	60	0	0	0	0.00632	0	29	60				
GABRQ	55879	broad.mit.edu	37	X	151820193	151820193	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:151820193G>A	ENST00000370306.2	+	8	1126	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	369					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.R369Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGAGACCCCGAAGAGTCATT	0.517																																							uc004ffp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1105-1107)CGA>CAA		gamma-aminobutyric acid (GABA) receptor, theta							112.0	96.0	101.0					X																	151820193		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151820193G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1106G>A	X.37:g.151820193G>A	ENSP00000359329:p.Arg369Gln						p.R369Q	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			8	1126	+	Acute lymphoblastic leukemia(192;6.56e-05)		369					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1106G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990258	0.18966	.	.	ENSG00000147402	ENST00000370306	D	0.85258	-1.96	5.15	-0.758	0.11049	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.73434	0.3586	L	0.40543	1.245	0.09310	N	1	B	0.25169	0.119	B	0.21546	0.035	T	0.55636	-0.8110	9	0.21540	T	0.41	.	4.2539	0.10708	0.5374:0.0:0.2567:0.2059	.	369	Q9UN88	GBRT_HUMAN	Q	369	ENSP00000359329:R369Q	ENSP00000359329:R369Q	R	+	2	0	GABRQ	151570849	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	0.072000	0.14617	-0.188000	0.10499	0.600000	0.82982	CGA		0.517	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		12	61	0	0	0	0.000978	0	12	61				
MAGEA3	4102	broad.mit.edu	37	X	151935453	151935453	+	Silent	SNP	G	G	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:151935453G>T	ENST00000393902.3	-	3	1281	c.714C>A	c.(712-714)atC>atA	p.I238I	MAGEA3_ENST00000370278.3_Silent_p.I238I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I238I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCCCCAAGATACTGTCTT	0.542																																							uc004fgp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(712-714)ATC>ATA		melanoma antigen family A, 3							149.0	143.0	145.0					X																	151935453		2202	4293	6495	SO:0001819	synonymous_variant	4102							g.chrX:151935453G>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.714C>A	X.37:g.151935453G>T							p.I238I	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	923	-	Acute lymphoblastic leukemia(192;6.56e-05)		238			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.714C>A	CCDS14715.1																																																																																				0.542	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		72	104	1	0	2.94884e-30	0.00361	5.47794e-30	72	104				
L1CAM	3897	broad.mit.edu	37	X	153137770	153137770	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:153137770C>A	ENST00000370060.1	-	5	426	c.237G>T	c.(235-237)aaG>aaT	p.K79N	L1CAM_ENST00000370057.3_Missense_Mutation_p.K79N|L1CAM_ENST00000361699.4_Missense_Mutation_p.K79N|L1CAM_ENST00000361981.3_Missense_Mutation_p.K74N|L1CAM_ENST00000370055.1_Missense_Mutation_p.K74N|L1CAM_ENST00000538883.1_Missense_Mutation_p.K81N|L1CAM_ENST00000543994.1_Missense_Mutation_p.K81N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	79	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.K79N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTCTTCCTTGGGTTTGA	0.607																																							uc004fjb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(235-237)AAG>AAT		L1 cell adhesion molecule isoform 1 precursor							106.0	87.0	93.0					X																	153137770		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137770C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.237G>T	X.37:g.153137770C>A	ENSP00000359077:p.Lys79Asn					L1CAM_uc004fjc.2_Missense_Mutation_p.K79N|L1CAM_uc010nuo.2_Missense_Mutation_p.K74N|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Missense_Mutation_p.K74N	p.K79N	NM_000425	NP_000416	P32004	L1CAM_HUMAN			4	345	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		79			Extracellular (Potential).|Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.237G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238937	0.22711	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.77620	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;-1.11;2.67	4.87	2.05	0.26809	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.919707	0.09242	N	0.829130	T	0.49167	0.1541	N	0.03016	-0.435	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.0;0.007;0.001	T	0.34700	-0.9818	10	0.17369	T	0.5	.	2.6782	0.05086	0.2781:0.3484:0.2832:0.0903	.	74;79;79	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	N	79;81;79;81;74;74;79;79;74;74;79	ENSP00000359077:K79N;ENSP00000438430:K81N;ENSP00000359074:K79N;ENSP00000439645:K81N;ENSP00000354712:K74N;ENSP00000359072:K74N;ENSP00000355380:K79N;ENSP00000402407:K79N;ENSP00000384902:K74N;ENSP00000392524:K74N;ENSP00000396079:K79N	ENSP00000355380:K79N	K	-	3	2	L1CAM	152790964	0.000000	0.05858	0.029000	0.17559	0.733000	0.41908	-0.351000	0.07711	0.116000	0.18110	0.529000	0.55759	AAG		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		9	12	1	0	0.00621372	0.006214	0.00674832	9	12				
PLXNA3	55558	broad.mit.edu	37	X	153688868	153688868	+	Silent	SNP	C	C	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:153688868C>T	ENST00000369682.3	+	2	520	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	115	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.I115I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGGCAGCATCTGGCAGGGCA	0.672																																							uc004flm.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(343-345)ATC>ATT		plexin A3 precursor							23.0	25.0	24.0					X																	153688868		2195	4268	6463	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688868C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.345C>T	X.37:g.153688868C>T							p.I115I	NM_017514	NP_059984	P51805	PLXA3_HUMAN			2	518	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		115			Sema.|Extracellular (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.345C>T	CCDS14752.1																																																																																				0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		11	28	0	0	0	0.000978	0	11	28				
OR6Y1	391112	broad.mit.edu	37	1	158516969	158516969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:158516969delG	ENST00000302617.3	-	1	926	c.927delC	c.(925-927)accfs	p.T309fs		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGCAATGTATGGTCTTTCTGA	0.443																																							uc010pil.1		NA																	0				ovary(1)	1						c.(925-927)ACCfs		olfactory receptor, family 6, subfamily Y,							122.0	113.0	116.0					1																	158516969		2203	4300	6503	SO:0001589	frameshift_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158516969delG	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.927delC	1.37:g.158516969delG	ENSP00000304807:p.Thr309fs						p.T309fs	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	927	-	all_hematologic(112;0.0378)		309			Cytoplasmic (Potential).		Q6IFS0	Frame_Shift_Del	DEL	ENST00000302617.3	37	c.927delC	CCDS30899.1																																																																																				0.443	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		40	76	NA	NA	NA	NA	NA	40	76	---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184692959	184692960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:184692959_184692960insA	ENST00000318130.8	-	8	1044_1045	c.778_779insT	c.(778-780)tggfs	p.W260fs	EDEM3_ENST00000367512.3_Frame_Shift_Ins_p.W217fs	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	260					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTTTTTCCCAGAGAAAATCA	0.317																																							uc010pok.1		NA																	0				skin(1)	1						c.(778-780)TGGfs		ER degradation enhancer, mannosidase alpha-like																																				SO:0001589	frameshift_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184692959_184692960insA	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.779dupT	1.37:g.184692960_184692960dupA	ENSP00000318147:p.Trp260fs					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Frame_Shift_Ins_p.W260fs|EDEM3_uc001gqy.2_Frame_Shift_Ins_p.W183fs	p.W260fs	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			8	1039_1040	-			260					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Frame_Shift_Ins	INS	ENST00000318130.8	37	c.778_779insT	CCDS1363.2																																																																																				0.317	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		35	119	NA	NA	NA	NA	NA	35	119	---	---	---	---
COA6	388753	broad.mit.edu	37	1	234510050	234510050	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:234510050delG	ENST00000366613.1	+	2	233	c.197delG	c.(196-198)tggfs	p.W66fs	COA6_ENST00000366612.1_Frame_Shift_Del_p.W20fs|RP5-827C21.4_ENST00000451795.1_RNA|COA6_ENST00000366615.4_Frame_Shift_Del_p.W96fs|RP5-827C21.6_ENST00000610233.1_RNA	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	66						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										GATGAGTACTGGAAGTGTTTA	0.458																																							uc001hwc.2		NA																	0					0						c.(196-198)TGGfs		hypothetical protein LOC388753							82.0	87.0	85.0					1																	234510050		2203	4300	6503	SO:0001589	frameshift_variant	388753					mitochondrion	cytochrome-c oxidase activity	g.chr1:234510050delG		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.197delG	1.37:g.234510050delG	ENSP00000355572:p.Trp66fs					C1orf31_uc001hwb.2_Frame_Shift_Del_p.W20fs	p.W66fs	NM_001012985	NP_001013003	Q5JTJ3	CA031_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		2	233	+	Ovarian(103;0.0339)	all_cancers(173;0.241)|Prostate(94;0.0353)	66					Q5JTJ2|Q5JTJ4|Q8TA88	Frame_Shift_Del	DEL	ENST00000366613.1	37	c.197delG	CCDS31059.1																																																																																				0.458	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		47	122	NA	NA	NA	NA	NA	47	122	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237758850	237758850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr1:237758850delG	ENST00000366574.2	+	34	4806	c.4489delG	c.(4489-4491)gggfs	p.G1497fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.G1481fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.G1495fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1497	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			CATGAGCCCCGGGCAAGGACG	0.473																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4489-4491)GGGfs		cardiac muscle ryanodine receptor							89.0	96.0	94.0					1																	237758850		2094	4216	6310	SO:0001589	frameshift_variant	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.chr1:237758850delG	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.4489delG	1.37:g.237758850delG	ENSP00000355533:p.Gly1497fs						p.G1497fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4609	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1497			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.4489delG	CCDS55691.1																																																																																				0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	67	NA	NA	NA	NA	NA	22	67	---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671427	45671427	+	Frame_Shift_Del	DEL	G	G	-	rs148878468	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr11:45671427delG	ENST00000308064.2	-	4	1717	c.1047delC	c.(1045-1047)accfs	p.T349fs	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	349					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGTTTCGCACGGTGCCGTATT	0.672																																							uc001mys.1		NA																	0				skin(4)|pancreas(1)	5						c.(1045-1047)ACCfs		carbohydrate (keratan sulfate Gal-6)							58.0	61.0	60.0					11																	45671427		2203	4298	6501	SO:0001589	frameshift_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671427delG	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1047delC	11.37:g.45671427delG	ENSP00000309270:p.Thr349fs						p.T349fs	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1718	-			349			Lumenal (Potential).		D3DQP2	Frame_Shift_Del	DEL	ENST00000308064.2	37	c.1047delC	CCDS7913.1																																																																																				0.672	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		24	94	NA	NA	NA	NA	NA	24	94	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208014	58208014	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:58208014delG	ENST00000377918.3	+	1	1360	c.1334delG	c.(1333-1335)cggfs	p.R445fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R445Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCGTGGCGCGGGACGGGGGC	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1333-1335)CGGfs		protocadherin 17 precursor							53.0	40.0	44.0					13																	58208014		2201	4299	6500	SO:0001589	frameshift_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208014delG	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1334delG	13.37:g.58208014delG	ENSP00000367151:p.Arg445fs					PCDH17_uc010aec.1_Frame_Shift_Del_p.R445fs	p.R445fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2226	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	445			Extracellular (Potential).|Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Frame_Shift_Del	DEL	ENST00000377918.3	37	c.1334delG	CCDS31986.1																																																																																				0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	29	NA	NA	NA	NA	NA	8	29	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72255995	72255995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr13:72255995delG	ENST00000359684.2	-	2	901	c.902delC	c.(901-903)ccafs	p.P301fs	DACH1_ENST00000354591.4_Frame_Shift_Del_p.P301fs|DACH1_ENST00000305425.4_Frame_Shift_Del_p.P301fs|DACH1_ENST00000313174.7_Frame_Shift_Del_p.P301fs			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	301	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGAGTTCTCTGGGGAGGTGAC	0.418																																							uc010thn.1		NA																	0				breast(1)	1						c.(895-897)CCAfs		dachshund homolog 1 isoform a							111.0	107.0	108.0					13																	72255995		1907	4138	6045	SO:0001589	frameshift_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72255995delG	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.902delC	13.37:g.72255995delG	ENSP00000352712:p.Pro301fs					DACH1_uc010tho.1_Frame_Shift_Del_p.P299fs|DACH1_uc010thp.1_Frame_Shift_Del_p.P299fs	p.P299fs	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1319	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	299			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Frame_Shift_Del	DEL	ENST00000359684.2	37	c.896delC																																																																																					0.418	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		13	78	NA	NA	NA	NA	NA	13	78	---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74125629	74125629	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr14:74125629delA	ENST00000553645.2	+	3	163	c.122delA	c.(121-123)gatfs	p.D41fs	DNAL1_ENST00000554339.1_Intron|RNU6-240P_ENST00000516098.1_RNA|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_Frame_Shift_Del_p.D2fs|DNAL1_ENST00000540526.1_Frame_Shift_Del_p.D2fs	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	41										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAGAAGATGGATGCATCCTTG	0.403																																							uc001xoq.3		NA																	0					0						c.(121-123)GATfs		axonemal dynein light chain 1							280.0	277.0	278.0					14																	74125629		1860	4108	5968	SO:0001589	frameshift_variant	83544							g.chr14:74125629delA	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.122delA	14.37:g.74125629delA	ENSP00000452037:p.Asp41fs					DNAL1_uc010aru.2_Frame_Shift_Del_p.D2fs|DNAL1_uc010arv.2_Intron	p.D41fs	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)	3	287	+			41					B2RD38|Q5JPB7|Q9BS43	Frame_Shift_Del	DEL	ENST00000553645.2	37	c.122delA	CCDS45134.1																																																																																				0.403	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414565.2	NM_031427		154	340	NA	NA	NA	NA	NA	154	340	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27517400	27517401	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:27517400_27517401insT	ENST00000356183.4	-	10	1604_1605	c.1589_1590insA	c.(1588-1590)aagfs	p.K530fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.K530fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	530					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGGCGGCTGCTTTTTCAATGG	0.554																																							uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1588-1590)AAGfs		general transcription factor IIIC, polypeptide																																				SO:0001589	frameshift_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27517400_27517401insT	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1590dupA	16.37:g.27517405_27517405dupT	ENSP00000348510:p.Lys530fs					GTF3C1_uc002dou.2_Frame_Shift_Ins_p.K530fs	p.K530fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			10	1629_1630	-			530					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	ENST00000356183.4	37	c.1589_1590insA	CCDS32414.1																																																																																				0.554	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		14	74	NA	NA	NA	NA	NA	14	74	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31388578	31388578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:31388578delG	ENST00000268296.4	+	23	2902	c.2781delG	c.(2779-2781)gtgfs	p.V928fs	ITGAX_ENST00000562522.1_Frame_Shift_Del_p.V928fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	928					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTACACTGTGGTTAGCAGGT	0.502																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2779-2781)GTGfs		integrin alpha X precursor							95.0	99.0	98.0					16																	31388578		2197	4300	6497	SO:0001589	frameshift_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31388578delG	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2781delG	16.37:g.31388578delG	ENSP00000268296:p.Val928fs					ITGAX_uc002ebt.2_Frame_Shift_Del_p.V927fs	p.V927fs	NM_000887	NP_000878	P20702	ITAX_HUMAN			23	2848	+			927			Extracellular (Potential).		Q8IVA6	Frame_Shift_Del	DEL	ENST00000268296.4	37	c.2781delG	CCDS10711.1																																																																																				0.502	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		20	74	NA	NA	NA	NA	NA	20	74	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74678502	74678502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr16:74678502delC	ENST00000361070.4	-	5	1021	c.924delG	c.(922-924)gggfs	p.G308fs	RFWD3_ENST00000571750.1_Frame_Shift_Del_p.G308fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	308					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CAAAGAGATGCCCACAGCGTA	0.478																																							uc002fda.2		NA																	0				lung(2)|breast(1)	3						c.(922-924)GGGfs		ring finger and WD repeat domain 3							118.0	107.0	111.0					16																	74678502		2198	4300	6498	SO:0001589	frameshift_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678502delC	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.924delG	16.37:g.74678502delC	ENSP00000354361:p.Gly308fs					RFWD3_uc010cgq.2_Frame_Shift_Del_p.G308fs	p.G308fs	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			5	1022	-			308			RING-type; degenerate.		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Frame_Shift_Del	DEL	ENST00000361070.4	37	c.924delG	CCDS32486.1																																																																																				0.478	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		7	108	NA	NA	NA	NA	NA	7	108	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195709	3195709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:3195709delG	ENST00000323404.1	-	1	167	c.168delC	c.(166-168)cccfs	p.P56fs	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	56					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	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(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGTGGAGTTTGGGCTCCACCA	0.562																																					GBM(20;287 516 18743 28660 36594)	GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NA																	0				kidney(2)|central_nervous_system(1)	3						c.(166-168)CCCfs		olfactory receptor, family 3, subfamily A,							92.0	81.0	85.0					17																	3195709		2203	4300	6503	SO:0001589	frameshift_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195709delG	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.168delC	17.37:g.3195709delG	ENSP00000313803:p.Pro56fs						p.P56fs	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	168	-			56			Cytoplasmic (Potential).		Q4VB06|Q6IFM4	Frame_Shift_Del	DEL	ENST00000323404.1	37	c.168delC	CCDS11023.1																																																																																				0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			14	46	NA	NA	NA	NA	NA	14	46	---	---	---	---
FAM222B	55731	broad.mit.edu	37	17	27085451	27085451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:27085451delC	ENST00000341217.5	-	3	1741	c.1526delG	c.(1525-1527)agcfs	p.S509fs	FAM222B_ENST00000452648.3_Frame_Shift_Del_p.S509fs|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Frame_Shift_Del_p.S509fs	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	509																	TTGCATCAAGCTGTTCTGGCT	0.652																																							uc002hct.1		NA																	0				ovary(1)	1						c.(1525-1527)AGCfs		hypothetical protein LOC55731							52.0	57.0	55.0					17																	27085451		1992	4152	6144	SO:0001589	frameshift_variant	55731							g.chr17:27085451delC	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1526delG	17.37:g.27085451delC	ENSP00000343115:p.Ser509fs					C17orf63_uc010wax.1_Frame_Shift_Del_p.S509fs|C17orf63_uc010way.1_Frame_Shift_Del_p.S509fs|C17orf63_uc002hcw.2_Frame_Shift_Del_p.S381fs	p.S509fs	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)		3	1793	-	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		509					Q9H6F3|Q9NVJ4|Q9NXN6	Frame_Shift_Del	DEL	ENST00000341217.5	37	c.1526delG	CCDS45637.1																																																																																				0.652	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		8	68	NA	NA	NA	NA	NA	8	68	---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66352843	66352851	+	In_Frame_Del	DEL	TCCCTCTTT	TCCCTCTTT	-	rs115207014	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	TCCCTCTTT	TCCCTCTTT	-	-	TCCCTCTTT	TCCCTCTTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr17:66352843_66352851delTCCCTCTTT	ENST00000448504.2	+	6	1398_1406	c.602_610delTCCCTCTTT	c.(601-612)ctccctctttat>cat	p.201_204LPLY>H	ARSG_ENST00000452479.2_In_Frame_Del_p.37_40LPLY>H|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	201					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACGTGGCCCTCCCTCTTTATGAAAACCT	0.493																																							uc002jhc.2		NA																	0				ovary(1)	1						c.(601-612)CTCCCTCTTTAT>CAT		Arylsulfatase G precursor																																				SO:0001651	inframe_deletion	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66352843_66352851delTCCCTCTTT	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.602_610delTCCCTCTTT	17.37:g.66352843_66352851delTCCCTCTTT	ENSP00000407193:p.Leu201_Tyr204delinsHis					ARSG_uc002jhb.1_In_Frame_Del_p.37_40LPLY>H	p.201_204LPLY>H	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1398_1406	+			201_204					Q6UXF2|Q9Y2K4	In_Frame_Del	DEL	ENST00000448504.2	37	c.602_610delTCCCTCTTT	CCDS11676.1																																																																																				0.493	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		17	38	NA	NA	NA	NA	NA	17	38	---	---	---	---
PSG4	5672	broad.mit.edu	37	19	43699272	43699272	+	Frame_Shift_Del	DEL	C	C	-	rs550832966		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr19:43699272delC	ENST00000405312.3	-	4	1100	c.863delG	c.(862-864)cgafs	p.R288fs	PSG4_ENST00000433626.2_Frame_Shift_Del_p.R195fs|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	288	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTCAATGGGTCGCTTTACCCT	0.463																																							uc002ovy.2		NA																	0				ovary(1)	1						c.(862-864)CGAfs		pregnancy specific beta-1-glycoprotein 4 isoform							232.0	222.0	225.0					19																	43699272		2202	4292	6494	SO:0001589	frameshift_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43699272delC		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.863delG	19.37:g.43699272delC	ENSP00000384770:p.Arg288fs					PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Frame_Shift_Del_p.R195fs|PSG4_uc002ovz.2_Intron	p.R288fs	NM_002780	NP_002771	Q00888	PSG4_HUMAN			4	965	-		Prostate(69;0.00682)	288			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Frame_Shift_Del	DEL	ENST00000405312.3	37	c.863delG	CCDS46093.1																																																																																				0.463	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		215	322	NA	NA	NA	NA	NA	215	322	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79386508	79386508	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:79386508delG	ENST00000409839.3	-	2	60	c.24delC	c.(22-24)cccfs	p.P8fs	REG3A_ENST00000305165.2_Frame_Shift_Del_p.P8fs|REG3A_ENST00000393878.1_Frame_Shift_Del_p.P8fs|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	8					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AAGATACACTGGGCAGGGCCA	0.532																																							uc002sod.1		NA																	0				skin(1)	1						c.(22-24)CCCfs		pancreatitis-associated protein precursor							183.0	133.0	150.0					2																	79386508		2203	4300	6503	SO:0001589	frameshift_variant	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79386508delG	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.24delC	2.37:g.79386508delG	ENSP00000386630:p.Pro8fs					REG3A_uc002soe.1_Frame_Shift_Del_p.P8fs|REG3A_uc002sof.1_Frame_Shift_Del_p.P8fs	p.P8fs	NM_138938	NP_620355	Q06141	REG3A_HUMAN			1	279	-			8						Frame_Shift_Del	DEL	ENST00000409839.3	37	c.24delC	CCDS1965.1																																																																																				0.532	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		11	77	NA	NA	NA	NA	NA	11	77	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467481	164467481	+	Frame_Shift_Del	DEL	G	G	-	rs376830180	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:164467481delG	ENST00000333129.3	-	3	1175	c.861delC	c.(859-861)cccfs	p.P287fs	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	287	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GAACAGTGGTGGGGGGTAGGG	0.592																																							uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(859-861)CCCfs		fidgetin							41.0	45.0	44.0					2																	164467481		1981	4138	6119	SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467481delG	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.861delC	2.37:g.164467481delG	ENSP00000333836:p.Pro287fs						p.P287fs	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1172	-			287			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Del	DEL	ENST00000333129.3	37	c.861delC	CCDS2221.2																																																																																				0.592	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		7	94	NA	NA	NA	NA	NA	7	94	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242407622	242407622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr2:242407622delG	ENST00000264042.3	+	18	2131	c.1961delG	c.(1960-1962)tgtfs	p.C654fs		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	654	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACCAAACGCTGTAAGAAGTTG	0.527																																							uc002wbi.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1960-1962)TGTfs		FERM, RhoGEF and pleckstrin domain protein 2							147.0	140.0	142.0					2																	242407622		2203	4300	6503	SO:0001589	frameshift_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242407622delG	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1961delG	2.37:g.242407622delG	ENSP00000264042:p.Cys654fs						p.C654fs	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	18	2078	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	654			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Frame_Shift_Del	DEL	ENST00000264042.3	37	c.1961delG	CCDS33424.1																																																																																				0.527	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			78	128	NA	NA	NA	NA	NA	78	128	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23472391	23472391	+	Frame_Shift_Del	DEL	A	A	-	rs2983288	byFrequency	TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr20:23472391delA	ENST00000246012.1	+	2	444	c.87delA	c.(85-87)acafs	p.T29fs		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	29					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGAATGAGACAGGGGTGCTGA	0.537																																							uc002wth.1		NA																	0					0						c.(85-87)ACAfs		cystatin 8 precursor							157.0	150.0	153.0					20																	23472391		2203	4300	6503	SO:0001589	frameshift_variant	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472391delA	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.87delA	20.37:g.23472391delA	ENSP00000246012:p.Thr29fs						p.T29fs	NM_005492	NP_005483	O60676	CST8_HUMAN			2	444	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		29					Q2M2X6	Frame_Shift_Del	DEL	ENST00000246012.1	37	c.87delA	CCDS13156.1																																																																																				0.537	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			7	164	NA	NA	NA	NA	NA	7	164	---	---	---	---
APOL2	23780	broad.mit.edu	37	22	36623735	36623736	+	In_Frame_Ins	INS	-	-	GGG	rs373105957		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:36623735_36623736insGGG	ENST00000249066.6	-	6	1204_1205	c.728_729insCCC	c.(727-729)ccg>ccCCCg	p.243_243P>PP	APOL2_ENST00000451256.2_In_Frame_Ins_p.355_355P>PP|APOL2_ENST00000358502.5_In_Frame_Ins_p.243_243P>PP	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	243					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAATGATATGCGGGGGTGGGGC	0.564																																							uc003aoz.2		NA																	0					0						c.(727-729)CCG>CCCCCG		apolipoprotein L2																																				SO:0001652	inframe_insertion	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36623735_36623736insGGG	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.726_728dupCCC	22.37:g.36623736_36623738dupGGG	ENSP00000249066:p.Pro243dup					APOL2_uc011amm.1_In_Frame_Ins_p.355_355P>PP|APOL2_uc003apa.2_In_Frame_Ins_p.243_243P>PP	p.243_243P>PP	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN			5	1064_1065	-			243					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	In_Frame_Ins	INS	ENST00000249066.6	37	c.728_729insCCC	CCDS43014.1																																																																																				0.564	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		20	130	NA	NA	NA	NA	NA	20	130	---	---	---	---
KDELR3	11015	broad.mit.edu	37	22	38882078	38882078	+	IGR	DEL	C	C	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr22:38882078delC	ENST00000216014.4	+	0	1728				DDX17_ENST00000444597.1_Frame_Shift_Del_p.R136fs|DDX17_ENST00000396821.3_Frame_Shift_Del_p.R686fs|DDX17_ENST00000381633.3_Frame_Shift_Del_p.R607fs	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GCTGCCCAGACCGGCCTATCC	0.532																																					Ovarian(11;103 529 24120 28493 32980)	Ovarian(55;1085 1454 6392 21425)	uc003avy.3		NA																	0				skin(3)|upper_aerodigestive_tract(1)	4						c.(2056-2058)CGGfs		DEAD box polypeptide 17 isoform 3							136.0	123.0	128.0					22																	38882078		2203	4300	6503	SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38882078delC	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882078delC						DDX17_uc003avw.3_Frame_Shift_Del_p.R138fs|DDX17_uc010gxp.2_Frame_Shift_Del_p.R136fs|DDX17_uc003avx.3_Frame_Shift_Del_p.R684fs	p.R686fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			13	2161	-	Melanoma(58;0.0286)		605					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	c.2058delG	CCDS13972.1																																																																																				0.532	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			8	130	NA	NA	NA	NA	NA	8	130	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189587113	189587113	+	Splice_Site	DEL	C	C	-	rs148052765		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr3:189587113delC	ENST00000264731.3	+	9	1219	c.1130delC	c.(1129-1131)ccg>cg	p.P377fs	TP63_ENST00000449992.1_Splice_Site_p.P198fs|TP63_ENST00000440651.2_Splice_Site_p.A373fs|TP63_ENST00000354600.5_Splice_Site_p.P283fs|TP63_ENST00000320472.5_Splice_Site_p.P377fs|TP63_ENST00000392460.3_Splice_Site_p.P377fs|TP63_ENST00000456148.1_Splice_Site_p.A279fs|TP63_ENST00000418709.2_Splice_Site_p.P377fs|TP63_ENST00000382063.4_Splice_Site_p.P292fs|TP63_ENST00000392463.2_Splice_Site_p.P283fs|TP63_ENST00000437221.1_Splice_Site_p.P283fs|TP63_ENST00000392461.3_Splice_Site_p.P283fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	377	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTCCACCAGCGTTTCGTCAG	0.363										HNSCC(45;0.13)																													uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1129-1131)CCGfs		tumor protein p63 isoform 1							121.0	106.0	111.0					3																	189587113		2203	4300	6503	SO:0001630	splice_region_variant	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189587113delC	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1130-1C>-	3.37:g.189587113delC		HNSCC(45;0.13)				TP63_uc003frx.2_Frame_Shift_Del_p.P377fs|TP63_uc003frz.2_Frame_Shift_Del_p.P377fs|TP63_uc010hzc.1_Frame_Shift_Del_p.P377fs|TP63_uc003fsa.2_Frame_Shift_Del_p.P283fs|TP63_uc003fsb.2_Frame_Shift_Del_p.P283fs|TP63_uc003fsc.2_Frame_Shift_Del_p.P283fs|TP63_uc003fsd.2_Frame_Shift_Del_p.P283fs|TP63_uc010hzd.1_Frame_Shift_Del_p.P198fs|TP63_uc003fse.1_Frame_Shift_Del_p.A254fs	p.P377fs	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	9	1219	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		377			Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Frame_Shift_Del	DEL	ENST00000264731.3	37	c.1130delC	CCDS3293.1																																																																																				0.363	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	Frame_Shift_Del	13	70	NA	NA	NA	NA	NA	13	70	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41018522	41018523	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr5:41018522_41018523insT	ENST00000399564.4	-	27	3133_3134	c.2683_2684insA	c.(2683-2685)atgfs	p.M895fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.M450fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	895																	AACAAGCCACATTTGGAGAAGC	0.366																																							uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(2683-2685)ATGfs		HEAT repeat family member 7B2																																				SO:0001589	frameshift_variant	133558						binding	g.chr5:41018522_41018523insT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2684dupA	5.37:g.41018525_41018525dupT	ENSP00000382476:p.Met895fs					HEATR7B2_uc003jmi.3_Frame_Shift_Ins_p.M450fs	p.M895fs	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			27	3173_3174	-			895					Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	ENST00000399564.4	37	c.2683_2684insA	CCDS47202.1																																																																																				0.366	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		10	40	NA	NA	NA	NA	NA	10	40	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82580348	82580348	+	Frame_Shift_Del	DEL	T	T	-	rs369211962		TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:82580348delT	ENST00000333891.9	-	6	9893	c.9556delA	c.(9556-9558)acafs	p.T3186fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.T3186fs|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCGGATGCTGTGGTTAAAGTG	0.438																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(9556-9558)ACAfs		piccolo isoform 1							53.0	50.0	51.0					7																	82580348		1920	4146	6066	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580348delT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9556delA	7.37:g.82580348delT	ENSP00000334319:p.Thr3186fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.T3186fs|PCLO_uc010lec.2_Frame_Shift_Del_p.T151fs	p.T3186fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	9845	-			3117						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.9556delA	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		16	70	NA	NA	NA	NA	NA	16	70	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92837962	92837962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr7:92837962delA	ENST00000394468.2	-	4	1020	c.943delT	c.(943-945)tgcfs	p.C316fs	HEPACAM2_ENST00000440868.1_Frame_Shift_Del_p.C304fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Del_p.C339fs|HEPACAM2_ENST00000341723.4_Frame_Shift_Del_p.C304fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	316	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TAAGCACAGCACACATAGTCC	0.428																																							uc003umm.2		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(943-945)TGCfs		HEPACAM family member 2 isoform 1							168.0	146.0	153.0					7																	92837962		2203	4300	6503	SO:0001589	frameshift_variant	253012					integral to membrane		g.chr7:92837962delA	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.943delT	7.37:g.92837962delA	ENSP00000377980:p.Cys316fs					HEPACAM2_uc003uml.2_Frame_Shift_Del_p.C303fs|HEPACAM2_uc010lff.2_Frame_Shift_Del_p.C303fs|HEPACAM2_uc011khy.1_Frame_Shift_Del_p.C338fs	p.C315fs	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			4	966	-			315			Ig-like C2-type 2.|Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Frame_Shift_Del	DEL	ENST00000394468.2	37	c.943delT	CCDS43616.1																																																																																				0.428	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		23	131	NA	NA	NA	NA	NA	23	131	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109686588	109686589	+	In_Frame_Ins	INS	-	-	AGCTCA			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chr9:109686588_109686589insAGCTCA	ENST00000277225.5	+	3	684_685	c.395_396insAGCTCA	c.(394-399)ggagct>ggAGCTCAagct	p.135_136insQA	ZNF462_ENST00000457913.1_In_Frame_Ins_p.135_136insQA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	135					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGGTCCATGGAGCTCAAGCTG	0.441																																							uc004bcz.2		NA																	0				ovary(5)	5						c.(394-396)GGA>GGAGCTCAA		zinc finger protein 462																																				SO:0001652	inframe_insertion	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109686588_109686589insAGCTCA	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.396_401dupAGCTCA	9.37:g.109686589_109686594dupAGCTCA	ENSP00000277225:p.Gln134_Ala135dup					ZNF462_uc010mto.2_5'UTR|ZNF462_uc004bda.2_5'UTR	p.134_135insAQ	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	684_685	+			134_135					Q5T0T4|Q8N408	In_Frame_Ins	INS	ENST00000277225.5	37	c.395_396insAGCTCA	CCDS35096.1																																																																																				0.441	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	70	NA	NA	NA	NA	NA	8	70	---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41201812	41201812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:41201812delG	ENST00000399959.2	+	5	1204	c.349delG	c.(349-351)ggcfs	p.G117fs	DDX3X_ENST00000457138.2_Frame_Shift_Del_p.G101fs|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Frame_Shift_Del_p.G161fs|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	117	Interaction with GSK3B.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AAGTGGCTTTGGCAAATTTGA	0.453										HNSCC(61;0.18)																													uc004dfe.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(349-351)GGCfs		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							109.0	106.0	107.0					X																	41201812		2199	4300	6499	SO:0001589	frameshift_variant	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41201812delG	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.349delG	X.37:g.41201812delG	ENSP00000382840:p.Gly117fs	HNSCC(61;0.18)				DDX3X_uc010nhf.1_Frame_Shift_Del_p.G101fs|DDX3X_uc004dff.2_Frame_Shift_Del_p.G117fs|DDX3X_uc011mkq.1_Frame_Shift_Del_p.G101fs|DDX3X_uc011mkr.1_Frame_Shift_Del_p.G117fs|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.G117fs	NM_001356	NP_001347	O00571	DDX3X_HUMAN			5	1204	+			117					A8K538|B4E3E8|O15536	Frame_Shift_Del	DEL	ENST00000399959.2	37	c.349delG	CCDS43931.1																																																																																				0.453	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		10	22	NA	NA	NA	NA	NA	10	22	---	---	---	---
CDX4	1046	broad.mit.edu	37	X	72674320	72674320	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4410-01A-21D-1855-08	TCGA-05-4410-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f85d0d42-436b-4251-a7fd-7d0f5fddd397	e76567fb-2172-446f-87d3-afc4d7ef2b76	g.chrX:72674320delT	ENST00000373514.2	+	3	754	c.754delT	c.(754-756)tccfs	p.S252fs		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	252					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGACTCTGACTCCATCAGCCC	0.448																																							uc011mqk.1		NA																	0					0						c.(754-756)TCCfs		caudal type homeobox 4							121.0	97.0	105.0					X																	72674320		2203	4300	6503	SO:0001589	frameshift_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72674320delT	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.754delT	X.37:g.72674320delT	ENSP00000362613:p.Ser252fs						p.S252fs	NM_005193	NP_005184	O14627	CDX4_HUMAN			3	754	+	Renal(35;0.156)		252					A1A513|Q5JS20	Frame_Shift_Del	DEL	ENST00000373514.2	37	c.754delT	CCDS14424.1																																																																																				0.448	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		15	11	NA	NA	NA	NA	NA	15	11	---	---	---	---
