#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCHD2	57540	broad.mit.edu	37	1	11561290	11561290	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:11561290G>A	ENST00000294484.6	+	2	379	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G81S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	81					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.G298S(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTCTTCCTGGGCTGCAGCAT	0.612																																						uc001ash.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(241-243)GGC>AGC		patched domain containing 2							85.0	87.0	86.0					1																	11561290		2124	4246	6370	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561290G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.241G>A	1.37:g.11561290G>A	ENSP00000294484:p.Gly81Ser					PTCHD2_uc001asi.1_Missense_Mutation_p.G81S	p.G81S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	379	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	81			Helical; (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.241G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212925	0.58452	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.24538	1.85;1.85	5.91	5.91	0.95273	.	0.228548	0.34580	U	0.003847	T	0.27559	0.0677	L	0.27053	0.805	0.51482	D	0.999926	D	0.56521	0.976	P	0.49799	0.622	T	0.01172	-1.1429	10	0.16420	T	0.52	-28.4776	19.2867	0.94077	0.0:0.0:1.0:0.0	.	81	Q9P2K9	PTHD2_HUMAN	S	81	ENSP00000294484:G81S;ENSP00000374226:G81S	ENSP00000294484:G81S	G	+	1	0	PTCHD2	11483877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.457000	0.80775	2.793000	0.96121	0.655000	0.94253	GGC		PASS	0.612	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		13	32	13	32	---	---	---	---
CLCNKA	1187	broad.mit.edu	37	1	16355720	16355720	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:16355720C>A	ENST00000331433.4	+	12	1172	c.1153C>A	c.(1153-1155)Cag>Aag	p.Q385K	CLCNKA_ENST00000375692.1_Missense_Mutation_p.Q385K|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.Q385K|CLCNKA_ENST00000439316.2_Missense_Mutation_p.Q342K			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	385					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.Q385K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCTCGACCCCCAGCACCTTTG	0.622																																						uc001axu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1153-1155)CAG>AAG		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						90.0	88.0	89.0					1																	16355720		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16355720C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1153C>A	1.37:g.16355720C>A	ENSP00000332771:p.Gln385Lys					CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.Q385K|CLCNKA_uc010obw.1_Missense_Mutation_p.Q342K|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_Missense_Mutation_p.Q32K|CLCNKA_uc010oby.1_Missense_Mutation_p.P114Q	p.Q385K	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	12	1233	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	385					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1153C>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	8.965	0.971410	0.18736	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.84298	-1.77;-1.77;-1.83;-1.77	3.2	2.23	0.28157	Chloride channel, core (1);	0.676525	0.15369	N	0.265953	T	0.74313	0.3700	L	0.33753	1.03	0.34037	D	0.654537	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.17979	0.02;0.013;0.013	T	0.66775	-0.5838	10	0.13853	T	0.58	.	8.6629	0.34103	0.229:0.771:0.0:0.0	.	342;385;385	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	K	385;385;342;385	ENSP00000364844:Q385K;ENSP00000410353:Q385K;ENSP00000414445:Q342K;ENSP00000332771:Q385K	ENSP00000332771:Q385K	Q	+	1	0	CLCNKA	16228307	0.000000	0.05858	1.000000	0.80357	0.563000	0.35712	-0.398000	0.07259	0.629000	0.30376	0.313000	0.20887	CAG		PASS	0.622	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			24	16	24	16	---	---	---	---
PAX7	5081	broad.mit.edu	37	1	19018313	19018313	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:19018313C>A	ENST00000375375.3	+	5	1250	c.652C>A	c.(652-654)Cga>Aga	p.R218R	PAX7_ENST00000400661.3_Silent_p.R216R|PAX7_ENST00000420770.2_Silent_p.R218R	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	218					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R218R(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCGCAAGCAGCGACGCAGTCG	0.642			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(652-654)CGA>AGA		paired box 7 isoform 1							38.0	32.0	34.0					1																	19018313		2202	4300	6502	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018313C>A	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.652C>A	1.37:g.19018313C>A						PAX7_uc001baz.2_Silent_p.R216R|PAX7_uc010oct.1_Silent_p.R218R	p.R218R	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	1250	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	218			Homeobox.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.652C>A	CCDS186.1																																																																																				PASS	0.642	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		6	1	6	1	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39876375	39876375	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:39876375G>T	ENST00000530275.1	+	1	225	c.30G>T	c.(28-30)gaG>gaT	p.E10D	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	10										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			AATTTGCAGAGAGGATAGAAG	0.478																																						uc009vvt.1																			0					0						c.(436-438)GAG>GAT		hypothetical protein LOC643314							93.0	91.0	91.0					1																	39876375		1909	4127	6036	SO:0001583	missense	643314							g.chr1:39876375G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.30G>T	1.37:g.39876375G>T	ENSP00000431179:p.Glu10Asp					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.E146D	NM_015038	NP_055853	O94854	K0754_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)		1	1200	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	10					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.438G>T		.	.	.	.	.	.	.	.	.	.	G	16.11	3.029950	0.54790	.	.	ENSG00000255103	ENST00000530275	T	0.42513	0.97	4.88	2.2	0.27929	.	.	.	.	.	T	0.47377	0.1442	L	0.27053	0.805	0.21220	N	0.999757	D	0.89917	1.0	D	0.91635	0.999	T	0.24154	-1.0168	9	0.87932	D	0	.	7.549	0.27783	0.6041:0.0:0.3959:0.0	.	10	O94854	K0754_HUMAN	D	10	ENSP00000431179:E10D	ENSP00000431179:E10D	E	+	3	2	RP4-562N20.1	39648962	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.321000	0.33678	0.735000	0.32537	-0.378000	0.06908	GAG		PASS	0.478	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		5	103	5	103	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44084851	44084851	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:44084851G>T	ENST00000359947.4	+	27	4964	c.4624G>T	c.(4624-4626)Ggg>Tgg	p.G1542W	PTPRF_ENST00000372413.3_Missense_Mutation_p.G1533W|PTPRF_ENST00000372414.3_Missense_Mutation_p.G1542W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1533W|PTPRF_ENST00000422171.2_Missense_Mutation_p.G901W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1542	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1532W(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTAGACGCAGGGCCCATGGT	0.642																																						uc001cjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(4624-4626)GGG>TGG		protein tyrosine phosphatase, receptor type, F							33.0	30.0	31.0					1																	44084851		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44084851G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4624G>T	1.37:g.44084851G>T	ENSP00000353030:p.Gly1542Trp					PTPRF_uc001cjs.2_Missense_Mutation_p.G1533W|PTPRF_uc001cju.2_Missense_Mutation_p.G931W|PTPRF_uc009vwt.2_Missense_Mutation_p.G1102W|PTPRF_uc001cjv.2_Missense_Mutation_p.G1013W|PTPRF_uc001cjw.2_Missense_Mutation_p.G768W	p.G1542W	NM_002840	NP_002831	P10586	PTPRF_HUMAN			27	4964	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1542			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4624G>T	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.2|23.2|23.2	4.387972|4.387972|4.387972	0.82902|0.82902|0.82902	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895|ENST00000412568;ENST00000414879	T;T;T;T;T;T|.|.	0.37584|.|.	1.19;1.19;1.19;1.19;1.19;1.19|.|.	5.42|5.42|5.42	5.42|5.42|5.42	0.78866|0.78866|0.78866	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);|.|.	0.000000|.|.	0.34906|.|.	N|.|.	0.003592|.|.	D|D|D	0.88351|0.88351|0.88351	0.6413|0.6413|0.6413	H|H|H	0.96460|0.96460|0.96460	3.825|3.825|3.825	0.80722|0.80722|0.80722	D|D|D	1|1|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|D|D	0.91572|0.91572|0.91572	0.5272|0.5272|0.5272	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.6098|19.6098|19.6098	0.95600|0.95600|0.95600	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1187;901;1119;1533;1542|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	W|H|M	1542;1533;1542;1533;901;614|1187|925;966	ENSP00000353030:G1542W;ENSP00000398822:G1533W;ENSP00000361491:G1542W;ENSP00000361490:G1533W;ENSP00000387885:G901W;ENSP00000361484:G614W|.|.	ENSP00000353030:G1542W|.|.	G|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43857438|43857438|43857438	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	9.801000|9.801000|9.801000	0.99128|0.99128|0.99128	2.714000|2.714000|2.714000	0.92807|0.92807|0.92807	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GGG|CAG|AGG		PASS	0.642	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			12	3	12	3	---	---	---	---
USP1	7398	broad.mit.edu	37	1	62916148	62916148	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:62916148G>T	ENST00000339950.4	+	9	2669	c.1854G>T	c.(1852-1854)atG>atT	p.M618I	USP1_ENST00000371146.1_Missense_Mutation_p.M618I	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	618	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.M618I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TTGACCAAATGTGTGAAATAG	0.378																																					Ovarian(122;1846 2315 3982 19504)	uc001daj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1852-1854)ATG>ATT		ubiquitin specific protease 1							80.0	74.0	76.0					1																	62916148		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62916148G>T		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1854G>T	1.37:g.62916148G>T	ENSP00000343526:p.Met618Ile					USP1_uc001dak.1_Missense_Mutation_p.M618I|USP1_uc001dal.1_Missense_Mutation_p.M618I	p.M618I	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	2182	+		all_neural(321;0.0281)	618					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.1854G>T	CCDS621.1	.	.	.	.	.	.	.	.	.	.	G	6.364	0.435213	0.12045	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.17054	2.3;2.3	5.65	3.61	0.41365	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.399986	0.32231	N	0.006381	T	0.10680	0.0261	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	10	0.34782	T	0.22	-2.3429	4.9389	0.13956	0.1433:0.1148:0.6241:0.1179	.	618	O94782	UBP1_HUMAN	I	618	ENSP00000360188:M618I;ENSP00000343526:M618I	ENSP00000343526:M618I	M	+	3	0	USP1	62688736	0.968000	0.33430	0.993000	0.49108	0.997000	0.91878	1.766000	0.38491	0.819000	0.34492	0.655000	0.94253	ATG		PASS	0.378	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		11	20	11	20	---	---	---	---
ANKRD13C	81573	broad.mit.edu	37	1	70819844	70819844	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:70819844G>A	ENST00000370944.4	-	1	561	c.248C>T	c.(247-249)tCc>tTc	p.S83F	HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000432224.1_5'Flank|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S83F|HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000370940.5_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	83					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.S83F(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTCACGGAGGAATTGTGCAG	0.652																																						uc001dex.3																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)TCC>TTC		ankyrin repeat domain 13C							59.0	74.0	69.0					1																	70819844		2203	4299	6502	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70819844G>A		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.248C>T	1.37:g.70819844G>A	ENSP00000359982:p.Ser83Phe					ANKRD13C_uc009wbk.2_Missense_Mutation_p.S83F|ANKRD13C_uc001dey.3_Missense_Mutation_p.S83F|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	p.S83F	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			1	574	-			83					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.248C>T	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388230	0.42308	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.47869	0.96;0.83	2.62	2.62	0.31277	.	1.123250	0.06698	N	0.770946	T	0.33585	0.0868	N	0.24115	0.695	0.23095	N	0.998303	B;D;P	0.59767	0.037;0.986;0.704	B;P;B	0.56865	0.013;0.808;0.198	T	0.31943	-0.9925	10	0.72032	D	0.01	.	8.9163	0.35583	0.0:0.0:1.0:0.0	.	83;83;83	Q8N6S4-2;Q8N6S4-3;Q8N6S4	.;.;AN13C_HUMAN	F	83	ENSP00000359982:S83F;ENSP00000262346:S83F	ENSP00000262346:S83F	S	-	2	0	ANKRD13C	70592432	0.647000	0.27304	0.981000	0.43875	0.962000	0.63368	2.378000	0.44309	1.764000	0.52075	0.462000	0.41574	TCC		PASS	0.652	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		9	19	9	19	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152323767	152323767	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:152323767G>A	ENST00000388718.5	-	3	6567	c.6495C>T	c.(6493-6495)tcC>tcT	p.S2165S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2165					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.S2165S(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)			CTGTCTGTGTGGACTGTCCAT	0.507																																						uc001ezw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6493-6495)TCC>TCT		filaggrin family member 2							352.0	315.0	327.0					1																	152323767		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152323767G>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.6495C>T	1.37:g.152323767G>A						uc001ezv.2_Intron	p.S2165S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6568	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2165			Filaggrin 10.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6495C>T	CCDS30861.1																																																																																				PASS	0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		36	175	36	175	---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156450735	156450735	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:156450735C>T	ENST00000348159.4	-	4	767	c.287G>A	c.(286-288)tGc>tAc	p.C96Y	MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000368240.2_Missense_Mutation_p.C96Y|MEF2D_ENST00000360595.3_Missense_Mutation_p.C96Y|MEF2D_ENST00000464356.2_Intron|MEF2D_ENST00000340875.5_Intron	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	96					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C96Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCTGTCGCAGCCGTTGAA	0.672											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fpc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)TGC>TAC		myocyte enhancer factor 2D							77.0	86.0	83.0					1																	156450735		2203	4299	6502	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156450735C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.287G>A	1.37:g.156450735C>T	ENSP00000271555:p.Cys96Tyr		OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1778	MEF2D_uc001fpb.2_Missense_Mutation_p.C96Y|MEF2D_uc001fpd.2_Missense_Mutation_p.C96Y|MEF2D_uc001fpe.1_Missense_Mutation_p.C96Y|MEF2D_uc009wsa.2_RNA	p.C96Y	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			4	677	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		96					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.287G>A	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698522	0.88830	.	.	ENSG00000116604	ENST00000348159;ENST00000368240;ENST00000360595;ENST00000541336	T;T;T	0.66638	-0.22;-0.22;-0.22	5.08	5.08	0.68730	Holliday junction regulator protein family C-terminal repeat (1);	0.093572	0.85682	D	0.000000	T	0.80999	0.4732	M	0.85462	2.755	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.70016	0.966;0.967;0.959	D	0.84171	0.0434	10	0.87932	D	0	-16.2665	17.4126	0.87491	0.0:1.0:0.0:0.0	.	101;96;96	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	Y	96	ENSP00000271555:C96Y;ENSP00000357223:C96Y;ENSP00000353803:C96Y	ENSP00000271555:C96Y	C	-	2	0	MEF2D	154717359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.422000	0.80217	2.529000	0.85273	0.561000	0.74099	TGC		PASS	0.672	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		37	31	37	31	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158908982	158908982	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:158908982G>A	ENST00000368140.1	+	4	769	c.524G>A	c.(523-525)cGt>cAt	p.R175H	PYHIN1_ENST00000392252.3_Missense_Mutation_p.R166H|PYHIN1_ENST00000368135.4_Missense_Mutation_p.R175H|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R175H|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R166H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	175					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.R175H(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCCATGGGCCGTTCCCCACCT	0.532																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(523-525)CGT>CAT		pyrin and HIN domain family, member 1 alpha 1							133.0	119.0	124.0					1																	158908982		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158908982G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.524G>A	1.37:g.158908982G>A	ENSP00000357122:p.Arg175His					PYHIN1_uc001fta.3_Missense_Mutation_p.R175H|PYHIN1_uc001ftc.2_Missense_Mutation_p.R166H|PYHIN1_uc001ftd.2_Missense_Mutation_p.R175H|PYHIN1_uc001fte.2_Missense_Mutation_p.R166H	p.R175H	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	769	+	all_hematologic(112;0.0378)		175					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.524G>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.453231	0.01071	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T	0.23552	3.5;3.51;3.52;3.53;1.9	2.1	-4.19	0.03835	.	.	.	.	.	T	0.01124	0.0037	N	0.01188	-0.97	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.18903	-1.0322	8	.	.	.	.	1.1022	0.01686	0.4649:0.1177:0.2071:0.2103	.	166;175;166;175;175	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	H	175;166;175;166;175	ENSP00000357122:R175H;ENSP00000357120:R166H;ENSP00000376083:R175H;ENSP00000376082:R166H;ENSP00000357117:R175H	.	R	+	2	0	PYHIN1	157175606	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.823000	0.00181	-4.295000	0.00058	-2.676000	0.00143	CGT		PASS	0.532	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		12	75	12	75	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161518242	161518242	+	Silent	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:161518242G>T	ENST00000436743.1	-	4	442	c.288C>A	c.(286-288)ctC>ctA	p.L96L	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Silent_p.L96L|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Silent_p.L132L|FCGR3A_ENST00000443193.1_Silent_p.L131L	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	96	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L132L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	CCGGGTCACTGAGGGTGGAGA	0.512																																						uc001gat.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(286-288)CTC>CTA		Fc fragment of IgG, low affinity IIIa, 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)						144.0	139.0	141.0					1																	161518242		2203	4298	6501	SO:0001819	synonymous_variant	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518242G>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.288C>A	1.37:g.161518242G>T						FCGR3A_uc001gar.2_Silent_p.L132L|FCGR3A_uc001gas.2_Silent_p.L131L|FCGR3A_uc009wuh.2_Silent_p.L95L|FCGR3A_uc009wui.2_Silent_p.L96L	p.L96L	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	425	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		96			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000436743.1	37	c.288C>A	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766158	0.31228	.	.	ENSG00000203747	ENST00000426740	.	.	.	4.43	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7904	0.40702	0.0:0.0:0.7943:0.2057	.	.	.	.	X	113	.	.	S	-	2	0	FCGR3A	159784866	0.972000	0.33761	0.712000	0.30502	0.713000	0.41058	1.813000	0.38962	1.190000	0.43042	0.591000	0.81541	TCA		PASS	0.512	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		13	105	13	105	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161599599	161599599	+	Intron	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:161599599G>T	ENST00000540048.1	-	2	94				FCGR3B_ENST00000294800.3_Silent_p.L96L|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_Silent_p.L132L|FCGR3B_ENST00000367964.2_Silent_p.L96L|FCGR2B_ENST00000403078.3_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L96L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	CCGGGTCACTGAGGGTGGAGA	0.502																																						uc009wul.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)CTC>CTA		low affinity immunoglobulin gamma Fc region	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)						45.0	53.0	50.0					1																	161599599		2137	4282	6419	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599599G>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+558C>A	1.37:g.161599599G>T							p.L96L	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	562	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		96			Ig-like C2-type 1.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37	c.288C>A		.	.	.	.	.	.	.	.	.	.	G	5.379	0.255086	0.10185	.	.	ENSG00000162747	ENST00000421702	.	.	.	2.79	2.79	0.32731	.	.	.	.	.	T	0.45538	0.1347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41840	-0.9486	4	.	.	.	.	9.21	0.37313	0.0:0.0:1.0:0.0	.	.	.	.	K	117	.	.	Q	-	1	0	FCGR3B	159866223	0.920000	0.31207	0.732000	0.30844	0.091000	0.18340	1.261000	0.32980	1.564000	0.49628	0.388000	0.25769	CAG		PASS	0.502	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		6	57	6	57	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178425887	178425887	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:178425887G>A	ENST00000462775.1	+	11	1945	c.1820G>A	c.(1819-1821)cGt>cAt	p.R607H	RASAL2_ENST00000448150.3_Missense_Mutation_p.R737H|RASAL2_ENST00000367649.3_Missense_Mutation_p.R748H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	607					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.R737H(1)|p.R607H(1)|p.R748H(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCTCTCCCTCGTGTTCTTGCT	0.453																																						uc001glr.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(1819-1821)CGT>CAT		RAS protein activator like 2 isoform 1							219.0	228.0	225.0					1																	178425887		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425887G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1820G>A	1.37:g.178425887G>A	ENSP00000420558:p.Arg607His					RASAL2_uc001glq.2_Missense_Mutation_p.R748H|RASAL2_uc009wxc.2_Missense_Mutation_p.R121H	p.R607H	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			11	1945	+			607					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1820G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992100	0.54041	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.23147	1.92;2.22;1.93	5.16	4.23	0.50019	Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	M	0.81802	2.56	0.58432	D	0.999998	D;P;P	0.59357	0.985;0.925;0.872	B;P;B	0.45343	0.408;0.477;0.431	T	0.51639	-0.8680	10	0.87932	D	0	.	15.8034	0.78473	0.0:0.1362:0.8638:0.0	.	737;607;748	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	H	737;748;607	ENSP00000407768:R737H;ENSP00000356621:R748H;ENSP00000420558:R607H	ENSP00000356621:R748H	R	+	2	0	RASAL2	176692510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.416000	0.80143	1.122000	0.41944	0.655000	0.94253	CGT		PASS	0.453	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		53	214	53	214	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276983	186276983	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:186276983G>T	ENST00000445192.2	+	7	2177	c.2132G>T	c.(2131-2133)gGg>gTg	p.G711V	PRG4_ENST00000367485.4_Missense_Mutation_p.G618V|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.G668V|PRG4_ENST00000367483.4_Missense_Mutation_p.G670V	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	711	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G711V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAAGGGACTGCTCCA	0.587																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2131-2133)GGG>GTG		proteoglycan 4 isoform A							163.0	176.0	172.0					1																	186276983		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276983G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2132G>T	1.37:g.186276983G>T	ENSP00000399679:p.Gly711Val					PRG4_uc001grt.3_Missense_Mutation_p.G670V|PRG4_uc009wyl.2_Missense_Mutation_p.G618V|PRG4_uc009wym.2_Missense_Mutation_p.G577V|PRG4_uc010poo.1_Intron	p.G711V	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2183	+			711			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2132G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	1.287	-0.608723	0.03717	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04917	3.54;3.64;3.53;3.65	1.73	-3.46	0.04767	.	1.015200	0.07918	U	0.975452	T	0.03348	0.0097	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.46076	-0.9217	9	.	.	.	.	3.0448	0.06149	0.5619:0.0:0.2398:0.1983	.	577;618;711;670	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	V	668;577;670;618;711	ENSP00000356456:G668V;ENSP00000356453:G670V;ENSP00000356455:G618V;ENSP00000399679:G711V	.	G	+	2	0	PRG4	184543606	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-2.696000	0.00827	-1.321000	0.02281	0.064000	0.15345	GGG		PASS	0.587	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	192	7	192	---	---	---	---
FAM58BP	339521	broad.mit.edu	37	1	200183203	200183203	+	IGR	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:200183203C>A								NR5A2 (36651 upstream) : RP11-532L16.3 (101359 downstream)																							ACCCCCGTTGCCGTCACTGCC	0.632																																						uc009wzi.1																			0					0						c.(511-513)GCC>GAC		family with sequence similarity 58 member B							36.0	38.0	37.0					1																	200183203		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183203C>A																													1.37:g.200183203C>A							p.A171D	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	548	+	Prostate(682;0.19)		171						Missense_Mutation	SNP		37	c.512C>A																																																																																				0	PASS	0.632									8	31	8	31	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203025576	203025576	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:203025576C>A	ENST00000447715.2	+	23	2555	c.2114C>A	c.(2113-2115)cCc>cAc	p.P705H	PPFIA4_ENST00000414050.2_Missense_Mutation_p.P434H|PPFIA4_ENST00000367240.2_Missense_Mutation_p.P706H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P221H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P221H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P221H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	705					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.P852H(1)|p.P221H(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						CCTTCCTCACCCAGGACGCTG	0.572																																						uc001gyz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(661-663)CCC>CAC		protein tyrosine phosphatase, receptor type, f							45.0	51.0	49.0					1																	203025576		2028	4169	6197	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025576C>A	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.2114C>A	1.37:g.203025576C>A	ENSP00000402576:p.Pro705His					PPFIA4_uc009xaj.2_Missense_Mutation_p.P852H|PPFIA4_uc010pqf.1_Missense_Mutation_p.P434H|PPFIA4_uc001gza.2_Missense_Mutation_p.P221H|PPFIA4_uc001gzb.1_5'Flank	p.P221H	NM_015053	NP_055868	O75335	LIPA4_HUMAN			5	1255	+			221					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.662C>A		.	.	.	.	.	.	.	.	.	.	c	26.5	4.747258	0.89663	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	4.78	4.78	0.61160	.	0.000000	0.45126	D	0.000387	T	0.55178	0.1904	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.91635	0.999;0.872;0.999;0.998	T	0.61973	-0.6952	10	0.87932	D	0	-30.2837	18.0072	0.89213	0.0:1.0:0.0:0.0	.	434;705;221;221	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	H	706;705;221;434;221	ENSP00000356209:P706H;ENSP00000402576:P705H;ENSP00000295706:P221H;ENSP00000400379:P434H;ENSP00000272198:P221H	ENSP00000272198:P221H	P	+	2	0	PPFIA4	201292199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.259000	0.78381	2.489000	0.83994	0.457000	0.33378	CCC		PASS	0.572	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		4	30	4	30	---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221913078	221913078	+	Silent	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:221913078C>T	ENST00000366899.3	-	2	247	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	3					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P3P(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAAAGGAGACGGAGGCATGA	0.483																																						uc001hmy.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(7-9)CCG>CCA		dual specificity phosphatase 10 isoform a							65.0	64.0	64.0					1																	221913078		2203	4300	6503	SO:0001819	synonymous_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221913078C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.9G>A	1.37:g.221913078C>T						DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.P3P	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	191	-			3					D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	c.9G>A	CCDS1528.1																																																																																				PASS	0.483	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		37	27	37	27	---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231047278	231047278	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:231047278G>A	ENST00000366661.4	-	20	2254	c.2247C>T	c.(2245-2247)tgC>tgT	p.C749C	TTC13_ENST00000414259.1_Silent_p.C696C|TTC13_ENST00000366662.4_Silent_p.C695C	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	749								p.C749C(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGATTAAGTTGCAGACAGCAT	0.289																																						uc001huf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2245-2247)TGC>TGT		tetratricopeptide repeat domain 13 isoform a							37.0	40.0	39.0					1																	231047278		2196	4281	6477	SO:0001819	synonymous_variant	79573						binding	g.chr1:231047278G>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2247C>T	1.37:g.231047278G>A						TTC13_uc009xfi.2_Silent_p.C696C|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.C695C|TTC13_uc009xfk.1_Silent_p.C638C	p.C749C	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	20	2278	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	749					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	c.2247C>T	CCDS1588.1																																																																																				PASS	0.289	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		7	13	7	13	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237664052	237664052	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:237664052T>A	ENST00000366574.2	+	21	2562	c.2245T>A	c.(2245-2247)Tta>Ata	p.L749I	RYR2_ENST00000360064.6_Missense_Mutation_p.L747I|RYR2_ENST00000542537.1_Missense_Mutation_p.L733I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	749	B30.2/SPRY 1. {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.L747I(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)			CCAACATCTGTTAAGAACTGA	0.393																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2245-2247)TTA>ATA		cardiac muscle ryanodine receptor							310.0	292.0	298.0					1																	237664052		1914	4135	6049	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.chr1:237664052T>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.2245T>A	1.37:g.237664052T>A	ENSP00000355533:p.Leu749Ile						p.L749I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		21	2365	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	749			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2245T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.484827	0.63962	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60672	0.17;0.17;0.17	5.95	-4.99	0.03010	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49305	D	0.000144	T	0.60183	0.2249	N	0.25332	0.735	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60352	-0.7280	10	0.32370	T	0.25	.	19.4978	0.95081	0.0:0.7124:0.0:0.2876	.	749	Q92736	RYR2_HUMAN	I	749;747;733	ENSP00000355533:L749I;ENSP00000353174:L747I;ENSP00000443798:L733I	ENSP00000353174:L747I	L	+	1	2	RYR2	235730675	0.001000	0.12720	0.065000	0.19835	0.889000	0.51656	-0.100000	0.10990	-0.983000	0.03511	0.528000	0.53228	TTA		PASS	0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		99	105	99	105	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370373	240370373	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:240370373T>G	ENST00000319653.9	+	5	2491	c.2261T>G	c.(2260-2262)gTg>gGg	p.V754G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	754					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.V897G(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)			GAGGGCGGGGTGCTGACACTG	0.542																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2260-2262)GTG>GGG		formin 2							44.0	42.0	43.0					1																	240370373		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.chr1:240370373T>G	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.2261T>G	1.37:g.240370373T>G	ENSP00000318884:p.Val754Gly					FMN2_uc010pye.1_Missense_Mutation_p.V758G	p.V754G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2486	+	Ovarian(103;0.127)	all_cancers(173;0.013)	754					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2261T>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	9.205	1.029533	0.19512	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.27720	1.65	5.37	-5.0	0.03001	.	1.825280	0.02790	N	0.121926	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.44605	-0.9317	10	0.87932	D	0	.	9.2492	0.37545	0.1042:0.4817:0.0:0.414	.	754	Q9NZ56	FMN2_HUMAN	G	191;754	ENSP00000318884:V754G	ENSP00000318884:V754G	V	+	2	0	FMN2	238436996	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.408000	0.07169	-0.489000	0.06716	-0.924000	0.02725	GTG		PASS	0.542	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	16	6	16	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004842	248004842	+	Silent	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:248004842G>T	ENST00000355784.2	-	1	412	c.357C>A	c.(355-357)gcC>gcA	p.A119A		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	119						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119A(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACGGTCATAGGCCATGAAGG	0.607																																						uc001idn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(355-357)GCC>GCA		olfactory receptor, family 11, subfamily L,							46.0	41.0	43.0					1																	248004842		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004842G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.357C>A	1.37:g.248004842G>T							p.A119A	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	357	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		119			Helical; Name=3; (Potential).			Silent	SNP	ENST00000355784.2	37	c.357C>A	CCDS31098.1																																																																																				PASS	0.607	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		7	20	7	20	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11733151	11733151	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:11733151T>C	ENST00000381486.2	+	11	1895	c.1595T>C	c.(1594-1596)aTg>aCg	p.M532T	GREB1_ENST00000234142.5_Missense_Mutation_p.M532T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	532						integral component of membrane (GO:0016021)		p.M532T(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTCCGAGATGTTCCGGCTG	0.662																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1594-1596)ATG>ACG		growth regulation by estrogen in breast cancer 1							27.0	29.0	28.0					2																	11733151		2117	4221	6338	SO:0001583	missense	9687					integral to membrane		g.chr2:11733151T>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1595T>C	2.37:g.11733151T>C	ENSP00000370896:p.Met532Thr					GREB1_uc002rbo.1_Missense_Mutation_p.M166T	p.M532T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	11	1895	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		532					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1595T>C	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	3.668	-0.068195	0.07228	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.38722	3.44;3.44;1.12	4.83	3.67	0.42095	.	0.124766	0.53938	D	0.000050	T	0.21550	0.0519	N	0.21373	0.66	0.41772	D	0.989774	B;P	0.41265	0.002;0.744	B;B	0.35770	0.004;0.21	T	0.13818	-1.0495	10	0.02654	T	1	-38.3174	10.2476	0.43350	0.0:0.0788:0.0:0.9212	.	166;532	C9JIG0;Q4ZG55	.;GREB1_HUMAN	T	532;532;166	ENSP00000370896:M532T;ENSP00000234142:M532T;ENSP00000403886:M166T	ENSP00000234142:M532T	M	+	2	0	GREB1	11650602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.857000	0.55972	0.692000	0.31613	0.482000	0.46254	ATG		PASS	0.662	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		10	12	10	12	---	---	---	---
FAM49A	81553	broad.mit.edu	37	2	16736368	16736368	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:16736368C>G	ENST00000381323.3	-	11	1097	c.877G>C	c.(877-879)Gac>Cac	p.D293H	FAM49A_ENST00000355549.2_Missense_Mutation_p.D293H|FAM49A_ENST00000406434.1_Missense_Mutation_p.D293H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	293						intracellular (GO:0005622)		p.D293H(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)			TCCACACTGTCTGGGGCCTGC	0.453																																						uc010exm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)GAC>CAC		family with sequence similarity 49, member A							55.0	53.0	54.0					2																	16736368		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16736368C>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.877G>C	2.37:g.16736368C>G	ENSP00000370724:p.Asp293His					FAM49A_uc002rck.1_Missense_Mutation_p.D293H	p.D293H	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		10	1025	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		293					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.877G>C	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127948	0.77549	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.45276	0.9;0.9;0.9	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	L	0.40543	1.245	0.80722	D	1	P	0.42248	0.774	P	0.51055	0.657	T	0.43572	-0.9383	10	0.49607	T	0.09	-35.3936	18.4766	0.90795	0.0:1.0:0.0:0.0	.	293	Q9H0Q0	FA49A_HUMAN	H	293	ENSP00000370724:D293H;ENSP00000384771:D293H;ENSP00000347744:D293H	ENSP00000347744:D293H	D	-	1	0	FAM49A	16599849	0.851000	0.29673	0.968000	0.41197	0.981000	0.71138	1.723000	0.38053	2.687000	0.91594	0.655000	0.94253	GAC		PASS	0.453	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		5	36	5	36	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31165143	31165143	+	Silent	SNP	G	G	A	rs541207790	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:31165143G>A	ENST00000349752.5	-	9	1494	c.855C>T	c.(853-855)ttC>ttT	p.F285F	GALNT14_ENST00000406653.1_Silent_p.F265F|GALNT14_ENST00000420311.2_Silent_p.F250F|GALNT14_ENST00000324589.5_Silent_p.F290F|GALNT14_ENST00000356174.3_Silent_p.F252F|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	285	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|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.F285F(1)|p.F285L(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCGATCACGAAGAGCCCTC	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		18593	0.0		0.0	False		,,,				2504	0.002					uc002rnr.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(853-855)TTC>TTT		N-acetylgalactosaminyltransferase 14							124.0	113.0	117.0					2																	31165143		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31165143G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.855C>T	2.37:g.31165143G>A						GALNT14_uc002rnq.2_Silent_p.F265F|GALNT14_uc002rns.2_Silent_p.F290F|GALNT14_uc010ymr.1_Silent_p.F250F|GALNT14_uc010ezo.1_Silent_p.F252F|GALNT14_uc010ezp.1_Intron	p.F285F	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			9	1474	-	Acute lymphoblastic leukemia(172;0.155)		285			Lumenal (Potential).|Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.855C>T	CCDS1773.2																																																																																				PASS	0.498	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		17	43	17	43	---	---	---	---
PROKR1	10887	broad.mit.edu	37	2	68882479	68882479	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:68882479A>T	ENST00000303786.3	+	3	1373	c.953A>T	c.(952-954)aAg>aTg	p.K318M	PROKR1_ENST00000394342.2_Missense_Mutation_p.K318M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	318					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.K318M(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTGAAGGAGAAGCACTACCTC	0.557																																						uc010yqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)AAG>ATG		G protein-coupled receptor 73							196.0	139.0	158.0					2																	68882479		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882479A>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.953A>T	2.37:g.68882479A>T	ENSP00000303775:p.Lys318Met					PROKR1_uc002ses.2_RNA	p.K318M	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			2	953	+			318			Extracellular (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.953A>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587133	0.66105	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.37752	1.18;1.18	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.72894	2.215	0.53688	D	0.999977	D	0.64830	0.994	D	0.68353	0.957	T	0.59726	-0.7400	10	0.62326	D	0.03	.	12.7537	0.57321	1.0:0.0:0.0:0.0	.	318	Q8TCW9	PKR1_HUMAN	M	318	ENSP00000303775:K318M;ENSP00000377874:K318M	ENSP00000303775:K318M	K	+	2	0	PROKR1	68735983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.841000	0.69409	2.326000	0.78906	0.533000	0.62120	AAG		PASS	0.557	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			25	40	25	40	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79253251	79253251	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:79253251C>A	ENST00000272324.5	+	2	216	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	REG3G_ENST00000409471.1_Missense_Mutation_p.S11Y|REG3G_ENST00000393897.2_Missense_Mutation_p.S11Y	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	11					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 region (GO:0005576)	carbohydrate binding (GO:0030246)	p.S11Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGTGTGTCCTGGATGCTG	0.537																																						uc002snw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)TCC>TAC		regenerating islet-derived 3 gamma precursor							202.0	152.0	169.0					2																	79253251		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253251C>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.32C>A	2.37:g.79253251C>A	ENSP00000272324:p.Ser11Tyr					REG3G_uc002snx.2_Missense_Mutation_p.S11Y|REG3G_uc010ffu.2_Missense_Mutation_p.S11Y	p.S11Y	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			2	117	+			11					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.32C>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470916	0.12461	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.17213	4.19;4.19;2.29	4.3	3.43	0.39272	.	0.167338	0.28983	N	0.013503	T	0.27594	0.0678	M	0.66939	2.045	0.25129	N	0.990588	D;D	0.69078	0.972;0.997	P;P	0.58013	0.729;0.831	T	0.07751	-1.0756	10	0.18276	T	0.48	.	8.0279	0.30448	0.0:0.8924:0.0:0.1076	.	11;11	Q3SYE6;Q6UW15	.;REG3G_HUMAN	Y	11	ENSP00000377475:S11Y;ENSP00000272324:S11Y;ENSP00000387105:S11Y	ENSP00000272324:S11Y	S	+	2	0	REG3G	79106759	0.953000	0.32496	0.809000	0.32408	0.004000	0.04260	0.936000	0.28938	1.406000	0.46857	0.650000	0.86243	TCC		PASS	0.537	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		18	39	18	39	---	---	---	---
TEX37	200523	broad.mit.edu	37	2	88828671	88828671	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:88828671C>A	ENST00000303254.3	+	4	364	c.222C>A	c.(220-222)ccC>ccA	p.P74P		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	74						nucleus (GO:0005634)		p.P74P(1)									TCAAAAGACCCCACATGACTG	0.557																																						uc002stb.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(220-222)CCC>CCA		chromosome 2 open reading frame 51							113.0	107.0	109.0					2																	88828671		2203	4300	6503	SO:0001819	synonymous_variant	200523					nucleus		g.chr2:88828671C>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.222C>A	2.37:g.88828671C>A							p.P74P	NM_152670	NP_689883	Q96LM6	TSC21_HUMAN			4	364	+			74						Silent	SNP	ENST00000303254.3	37	c.222C>A	CCDS2003.1																																																																																				PASS	0.557	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		36	54	36	54	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539886	109539886	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:109539886G>A	ENST00000258443.2	-	5	810	c.380C>T	c.(379-381)cCg>cTg	p.P127L	EDAR_ENST00000376651.1_Missense_Mutation_p.P127L|EDAR_ENST00000409271.1_Missense_Mutation_p.P127L	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	127					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.P127L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GATGTTCCTCGGTCTGTTCTC	0.547																																						uc002teq.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(379-381)CCG>CTG		ectodysplasin A receptor precursor							152.0	126.0	135.0					2																	109539886		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539886G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.380C>T	2.37:g.109539886G>A	ENSP00000258443:p.Pro127Leu					EDAR_uc010fjn.2_Missense_Mutation_p.P127L|EDAR_uc010yws.1_Missense_Mutation_p.P127L	p.P127L	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			5	811	-			127			TNFR-Cys 3.|Extracellular (Potential).		B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.380C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617661	0.87359	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90261	-2.58;-2.64;-2.58	5.24	5.24	0.73138	.	0.101452	0.64402	D	0.000001	D	0.92018	0.7471	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.62298	0.9;0.804	D	0.89475	0.3746	10	0.19590	T	0.45	-32.0167	18.8226	0.92103	0.0:0.0:1.0:0.0	.	127;127	E9PC98;Q9UNE0	.;EDAR_HUMAN	L	127	ENSP00000386371:P127L;ENSP00000258443:P127L;ENSP00000365839:P127L	ENSP00000258443:P127L	P	-	2	0	EDAR	108906318	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.089000	0.94137	2.436000	0.82500	0.561000	0.74099	CCG		PASS	0.547	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			25	30	25	30	---	---	---	---
ACTR3	10096	broad.mit.edu	37	2	114688952	114688952	+	Silent	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:114688952A>T	ENST00000263238.2	+	5	731	c.411A>T	c.(409-411)ccA>ccT	p.P137P	ACTR3_ENST00000535589.2_Silent_p.P86P|ACTR3_ENST00000536059.1_Silent_p.P75P	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	137					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.P137P(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						TCAATGTTCCAGGCTTGTACA	0.318																																						uc002tkx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(409-411)CCA>CCT		ARP3 actin-related protein 3 homolog							92.0	91.0	92.0					2																	114688952		2203	4298	6501	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114688952A>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.411A>T	2.37:g.114688952A>T						ACTR3_uc010yyc.1_Silent_p.P75P|ACTR3_uc010yyd.1_Silent_p.P86P	p.P137P	NM_005721	NP_005712	P61158	ARP3_HUMAN			5	731	+			137					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.411A>T	CCDS33277.1																																																																																				PASS	0.318	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		18	24	18	24	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119750717	119750717	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:119750717G>T	ENST00000327097.4	+	16	1405	c.1270G>T	c.(1270-1272)Gtc>Ttc	p.V424F	MARCO_ENST00000541757.1_Missense_Mutation_p.V346F	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	424	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.V424I(1)|p.V424F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTCAGTGTCCGTCAGGATTGT	0.517																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1270-1272)GTC>TTC		macrophage receptor with collagenous structure							117.0	108.0	111.0					2																	119750717		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119750717G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1270G>T	2.37:g.119750717G>T	ENSP00000318916:p.Val424Phe					MARCO_uc010yyf.1_Missense_Mutation_p.V346F	p.V424F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			16	1402	+			424			SRCR.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1270G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267694	0.23136	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.37584	1.19;1.19	6.07	5.18	0.71444	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.410669	0.21850	N	0.068181	T	0.65322	0.2680	M	0.89601	3.045	0.32308	N	0.564073	D	0.89917	1.0	D	0.80764	0.994	T	0.77715	-0.2484	9	.	.	.	.	11.6203	0.51113	0.0823:0.0:0.9177:0.0	.	424	Q9UEW3	MARCO_HUMAN	F	424;424;346	ENSP00000318916:V424F;ENSP00000441769:V346F	.	V	+	1	0	MARCO	119467187	0.975000	0.34042	0.448000	0.26945	0.037000	0.13140	3.462000	0.53042	1.553000	0.49476	0.655000	0.94253	GTC		PASS	0.517	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		12	138	12	138	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122227508	122227508	+	Silent	SNP	C	C	T	rs372168310	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:122227508C>T	ENST00000263710.4	-	9	1130	c.741G>A	c.(739-741)gtG>gtA	p.V247V	CLASP1_ENST00000541859.1_Silent_p.V16V|CLASP1_ENST00000541377.1_Silent_p.V247V|CLASP1_ENST00000455322.2_Silent_p.V247V|CLASP1_ENST00000397587.3_Silent_p.V247V|CLASP1_ENST00000545861.1_Silent_p.V15V|CLASP1_ENST00000409078.3_Silent_p.V247V|CLASP1_ENST00000430234.1_5'UTR	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	247					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.V247V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTTACCATCCACAGAATCTT	0.388													C|||	28	0.00559105	0.0	0.0	5008	,	,		17185	0.0		0.0	False		,,,				2504	0.0286					uc002tnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(739-741)GTG>GTA		CLIP-associating protein 1 isoform 1		C	,,,	1,3729		0,1,1864	92.0	91.0	91.0		741,741,741,741	2.1	1.0	2		91	7,8177		0,7,4085	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLASP1	NM_001142273.1,NM_001142274.1,NM_001207051.1,NM_015282.2	,,,	0,8,5949	TT,TC,CC		0.0855,0.0268,0.0671	,,,	247/1480,247/1472,247/1478,247/1539	122227508	8,11906	1865	4092	5957	SO:0001819	synonymous_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122227508C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.741G>A	2.37:g.122227508C>T						CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.V247V|CLASP1_uc010yza.1_Silent_p.V247V|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Silent_p.V247V	p.V247V	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			9	1131	-	Renal(3;0.0496)		247					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37	c.741G>A																																																																																					PASS	0.388	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		26	64	26	64	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125262047	125262047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:125262047C>A	ENST00000431078.1	+	8	1602	c.1238C>A	c.(1237-1239)tCg>tAg	p.S413*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	413	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S413*(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)		TCTGAGGGCTCGGGAACCCTG	0.542																																						uc002tno.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(10)	10						c.(1237-1239)TCG>TAG		contactin associated protein-like 5 precursor							77.0	79.0	78.0					2																	125262047		1954	4156	6110	SO:0001587	stop_gained	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125262047C>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.1238C>A	2.37:g.125262047C>A	ENSP00000399013:p.Ser413*					CNTNAP5_uc010flu.2_Nonsense_Mutation_p.S414*	p.S413*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1602	+			413			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Nonsense_Mutation	SNP	ENST00000431078.1	37	c.1238C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	42	9.331573	0.99138	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.64	5.64	0.86602	.	0.000000	0.42053	D	0.000779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6837	0.91556	0.0:1.0:0.0:0.0	.	.	.	.	X	413	.	ENSP00000399013:S413X	S	+	2	0	CNTNAP5	124978517	0.989000	0.36119	0.996000	0.52242	0.799000	0.45148	3.899000	0.56288	2.642000	0.89623	0.650000	0.86243	TCG		PASS	0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			4	100	4	100	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141122335	141122335	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:141122335C>A	ENST00000389484.3	-	72	11997	c.11026G>T	c.(11026-11028)Gct>Tct	p.A3676S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3676	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.A3676S(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)		AACTCATCAGCTCTACATATA	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11026-11028)GCT>TCT		low density lipoprotein-related protein 1B							114.0	117.0	116.0					2																	141122335		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141122335C>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.11026G>T	2.37:g.141122335C>A	ENSP00000374135:p.Ala3676Ser	TSP Lung(27;0.18)					p.A3676S	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)	72	11998	-		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)	3676			Extracellular (Potential).|LDL-receptor class A 30.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11026G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241362	0.39598	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95377	-3.69	5.58	4.7	0.59300	.	0.216427	0.38720	N	0.001596	D	0.89812	0.6823	N	0.20986	0.625	0.27431	N	0.954001	B	0.23735	0.09	B	0.24701	0.055	T	0.76501	-0.2936	10	0.09338	T	0.73	.	13.0147	0.58751	0.0:0.9247:0.0:0.0753	.	3676	Q9NZR2	LRP1B_HUMAN	S	3676;3614	ENSP00000374135:A3676S	ENSP00000374135:A3676S	A	-	1	0	LRP1B	140838805	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	1.149000	0.31626	1.483000	0.48342	0.655000	0.94253	GCT		PASS	0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	30	24	30	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149838057	149838057	+	Silent	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:149838057C>T	ENST00000435030.1	+	14	1919	c.1551C>T	c.(1549-1551)gaC>gaT	p.D517D	KIF5C_ENST00000397413.1_Silent_p.D285D|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.D422D			O60282	KIF5C_HUMAN	kinesin family member 5C	517					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D517D(1)|p.D420D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGCTGACAGACGAGCTGGCCC	0.512																																						uc010zbu.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1549-1551)GAC>GAT		kinesin family member 5C							30.0	34.0	32.0					2																	149838057		2073	4237	6310	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149838057C>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1551C>T	2.37:g.149838057C>T						KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Silent_p.D69D	p.D517D	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	14	1919	+			517					O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.1551C>T																																																																																					PASS	0.512	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		7	11	7	11	---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190571740	190571740	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:190571740G>T	ENST00000520309.1	+	9	2075	c.1987G>T	c.(1987-1989)Gct>Tct	p.A663S	ANKAR_ENST00000281412.6_Missense_Mutation_p.A427S|ANKAR_ENST00000438402.2_Missense_Mutation_p.A663S|ANKAR_ENST00000313581.4_Missense_Mutation_p.A663S|ANKAR_ENST00000431575.2_Missense_Mutation_p.A592S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	663						integral component of membrane (GO:0016021)		p.A663S(1)|p.A592S(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTCTATCGGTGCTAACTGGAG	0.313																																						uc002uqw.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1774-1776)GCT>TCT		ankyrin and armadillo repeat containing							78.0	77.0	78.0					2																	190571740		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190571740G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1987G>T	2.37:g.190571740G>T	ENSP00000427882:p.Ala663Ser					ANKAR_uc002uqu.2_RNA	p.A592S	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1774	+			663			ANK 4.		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1774G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864145	0.91511	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	4.98	4.98	0.66077	.	0.302433	0.23780	N	0.044629	D	0.90253	0.6952	M	0.87381	2.88	0.45541	D	0.998496	.	.	.	.	.	.	D	0.91903	0.5533	8	0.87932	D	0	-14.2164	17.1847	0.86863	0.0:0.0:1.0:0.0	.	.	.	.	S	663;663;663;592;427	ENSP00000427882:A663S;ENSP00000313513:A663S;ENSP00000397243:A663S;ENSP00000393043:A592S;ENSP00000281412:A427S	ENSP00000281412:A427S	A	+	1	0	ANKAR	190279985	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.635000	0.74295	2.588000	0.87417	0.655000	0.94253	GCT		PASS	0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		8	33	8	33	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190925015	190925015	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr2:190925015G>T	ENST00000260950.4	-	2	652	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	174					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.L174M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATGAGTCTCAGGATTTGCACA	0.398																																						uc002urp.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(520-522)CTG>ATG		myostatin precursor							168.0	158.0	162.0					2																	190925015		2203	4300	6503	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190925015G>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.520C>A	2.37:g.190925015G>T	ENSP00000260950:p.Leu174Met						p.L174M	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	653	-			174					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.520C>A	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699781	0.48307	.	.	ENSG00000138379	ENST00000260950	T	0.65364	-0.15	5.76	4.89	0.63831	Transforming growth factor-beta, N-terminal (1);	0.082380	0.56097	D	0.000028	T	0.70202	0.3197	L	0.54323	1.7	0.37627	D	0.921524	P	0.48230	0.907	P	0.59761	0.863	T	0.73427	-0.3986	10	0.42905	T	0.14	-5.3903	11.1702	0.48567	0.1414:0.0:0.8586:0.0	.	174	O14793	GDF8_HUMAN	M	174	ENSP00000260950:L174M	ENSP00000260950:L174M	L	-	1	2	MSTN	190633260	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.886000	0.48578	1.435000	0.47434	0.650000	0.86243	CTG		PASS	0.398	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		6	78	6	78	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50012788	50012788	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:50012788G>A	ENST00000266022.4	+	5	1705	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.M350I	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	482	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M482I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CTGATGGCATGCCTGTAAAGA	0.383																																						uc003cyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1444-1446)ATG>ATA		RNA binding motif protein 6							194.0	181.0	185.0					3																	50012788		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50012788G>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1446G>A	3.37:g.50012788G>A	ENSP00000266022:p.Met482Ile					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Missense_Mutation_p.M1I|RBM6_uc003cyd.2_5'UTR|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_Intron	p.M482I	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	5	1579	+			482			RRM.		O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1446G>A	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	6.600	0.479143	0.12581	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.29917	1.55;1.55	5.79	1.43	0.22495	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	1.175070	0.05749	N	0.602681	T	0.20373	0.0490	L	0.28556	0.865	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21008	-1.0258	9	.	.	.	2.5538	3.6011	0.08024	0.1968:0.0929:0.5054:0.2049	.	350;482	E9PGM9;P78332	.;RBM6_HUMAN	I	482;350	ENSP00000266022:M482I;ENSP00000396466:M350I	.	M	+	3	0	RBM6	49987792	0.025000	0.19082	0.472000	0.27241	0.963000	0.63663	0.042000	0.13949	0.347000	0.23924	0.491000	0.48974	ATG		PASS	0.383	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		32	33	32	33	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89456489	89456489	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:89456489C>A	ENST00000336596.2	+	8	1890	c.1665C>A	c.(1663-1665)ctC>ctA	p.L555L	EPHA3_ENST00000494014.1_Silent_p.L555L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	555					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.L555L(1)		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)		CAATTATTCTCCTCACTGTTG	0.413										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - coding silent(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1663-1665)CTC>CTA		ephrin receptor EphA3 isoform a precursor							203.0	169.0	181.0					3																	89456489		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89456489C>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.1665C>A	3.37:g.89456489C>A		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.L555L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	8	1890	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	555			Helical; (Potential).		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1665C>A	CCDS2922.1																																																																																				PASS	0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		14	16	14	16	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983832	97983832	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:97983832C>A	ENST00000383696.2	+	1	745	c.704C>A	c.(703-705)aCa>aAa	p.T235K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T235K(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATATCTTATACAATTATCCTC	0.328																																						uc003dsi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(703-705)ACA>AAA		olfactory receptor, family 5, subfamily H,							41.0	42.0	42.0					3																	97983832		2203	4296	6499	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983832C>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.704C>A	3.37:g.97983832C>A	ENSP00000373196:p.Thr235Lys						p.T235K	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	704	+			235			Cytoplasmic (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.704C>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	11.76	1.735585	0.30774	.	.	ENSG00000230301	ENST00000383696	T	0.00152	8.66	2.19	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.295611	0.24245	N	0.040231	T	0.00328	0.0010	M	0.87758	2.905	0.23645	N	0.99722	D	0.53885	0.963	P	0.59825	0.864	T	0.40608	-0.9554	10	0.51188	T	0.08	.	3.6131	0.08067	0.0:0.6235:0.0:0.3765	.	235	Q8NGV6	OR5H6_HUMAN	K	235	ENSP00000373196:T235K	ENSP00000373196:T235K	T	+	2	0	OR5H6	99466522	0.000000	0.05858	0.577000	0.28562	0.056000	0.15407	-0.524000	0.06222	1.220000	0.43490	0.194000	0.17425	ACA		PASS	0.328	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			5	35	5	35	---	---	---	---
HSPBAP1	79663	broad.mit.edu	37	3	122512524	122512524	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:122512524C>G	ENST00000306103.2	-	1	147	c.4G>C	c.(4-6)Gca>Cca	p.A2P	DIRC2_ENST00000261038.5_5'Flank|HSPBAP1_ENST00000383659.1_Missense_Mutation_p.A2P|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	2						cytoplasm (GO:0005737)		p.A2P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAGCCTGCTGCCATGGCTACC	0.662																																						uc003efu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(4-6)GCA>CCA		Hspb associated protein 1							60.0	62.0	62.0					3																	122512524		2196	4298	6494	SO:0001583	missense	79663					cytoplasm		g.chr3:122512524C>G	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.4G>C	3.37:g.122512524C>G	ENSP00000302562:p.Ala2Pro					DIRC2_uc003efw.3_5'Flank|DIRC2_uc010hrl.2_5'Flank|DIRC2_uc010hrm.2_5'Flank|HSPBAP1_uc003efv.1_Missense_Mutation_p.A2P	p.A2P	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	1	127	-			2					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.4G>C	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919818	0.73098	.	.	ENSG00000169087	ENST00000383659;ENST00000306103	T;T	0.50548	0.74;1.35	4.12	4.12	0.48240	.	1.331040	0.05633	N	0.582037	T	0.55226	0.1907	L	0.47716	1.5	0.33652	D	0.608579	P;P	0.52316	0.95;0.952	P;P	0.50708	0.648;0.601	T	0.56932	-0.7897	10	0.72032	D	0.01	.	12.1928	0.54280	0.0:1.0:0.0:0.0	.	2;2	Q96EW2-2;Q96EW2	.;HBAP1_HUMAN	P	2	ENSP00000373155:A2P;ENSP00000302562:A2P	ENSP00000302562:A2P	A	-	1	0	HSPBAP1	123995214	1.000000	0.71417	0.978000	0.43139	0.284000	0.27059	2.904000	0.48719	2.569000	0.86673	0.655000	0.94253	GCA		PASS	0.662	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		29	28	29	28	---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127820473	127820473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:127820473C>A	ENST00000322623.5	-	5	631	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	RUVBL1_ENST00000464873.1_Nonsense_Mutation_p.E118*|RUVBL1_ENST00000417360.1_Nonsense_Mutation_p.E178*	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	178					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.E178*(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TGCAAACTTTCAAAAATGCTG	0.418																																						uc003ekh.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(532-534)GAA>TAA		RuvB-like 1							174.0	177.0	176.0					3																	127820473		2203	4300	6503	SO:0001587	stop_gained	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127820473C>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.532G>T	3.37:g.127820473C>A	ENSP00000318297:p.Glu178*					RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Nonsense_Mutation_p.E118*|RUVBL1_uc010hss.2_Nonsense_Mutation_p.E178*	p.E178*	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	5	636	-			178					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Nonsense_Mutation	SNP	ENST00000322623.5	37	c.532G>T	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	46	12.915253	0.99706	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.464	19.5486	0.95309	0.0:1.0:0.0:0.0	.	.	.	.	X	118;178;178	.	.	E	-	1	0	RUVBL1	129303163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.624000	0.88883	0.585000	0.79938	GAA		PASS	0.418	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			7	292	7	292	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132400856	132400856	+	Silent	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:132400856G>C	ENST00000337331.5	-	27	3977	c.3891C>G	c.(3889-3891)ctC>ctG	p.L1297L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1297					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.L1297L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCACCCAAGAGTGATGTTT	0.388																																						uc003epe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3889-3891)CTC>CTG		nephrocystin 3							206.0	202.0	203.0					3																	132400856		2203	4300	6503	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132400856G>C	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3891C>G	3.37:g.132400856G>C						NPHP3_uc003eoz.1_Silent_p.L176L|NPHP3_uc003epd.1_Silent_p.L539L	p.L1297L	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			27	3968	-			1297					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.3891C>G	CCDS3078.1																																																																																				PASS	0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		58	30	58	30	---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160952514	160952514	+	Splice_Site	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:160952514G>T	ENST00000460469.1	+	5	812		c.e5-1		NMD3_ENST00000351193.2_Splice_Site|NMD3_ENST00000472947.1_Splice_Site|NMD3_ENST00000478160.1_Splice_Site			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor						protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGTTTTATCAGGTGATGAATG	0.308																																						uc003feb.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e6-1		NMD3 homolog							189.0	180.0	183.0					3																	160952514		2203	4300	6503	SO:0001630	splice_region_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160952514G>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.358-1G>T	3.37:g.160952514G>T						NMD3_uc003fec.2_Splice_Site_p.V120_splice|NMD3_uc003fed.1_Splice_Site_p.V120_splice|NMD3_uc010hwh.2_5'Flank	p.V120_splice	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		6	477	+								D3DNM7|Q9Y2Z6	Splice_Site	SNP	ENST00000460469.1	37	c.358_splice	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975569	0.74360	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2642	0.87081	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NMD3	162435208	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.125000	0.94402	2.376000	0.81061	0.591000	0.81541	.		PASS	0.308	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	Intron	4	47	4	47	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184297281	184297281	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:184297281G>T	ENST00000330394.2	+	10	2270	c.1818G>T	c.(1816-1818)aaG>aaT	p.K606N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	606					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.K606N(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGGAATGAAGGTTTATATTG	0.567																																						uc003foz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1816-1818)AAG>AAT		ephrin receptor EphB3 precursor							91.0	81.0	84.0					3																	184297281		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297281G>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1818G>T	3.37:g.184297281G>T	ENSP00000332118:p.Lys606Asn						p.K606N	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		10	2255	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		606			Cytoplasmic (Potential).		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1818G>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633757	0.67130	.	.	ENSG00000182580	ENST00000330394	T	0.19669	2.13	4.81	1.4	0.22301	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.93507	3.425	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.53954	-0.8365	10	0.87932	D	0	.	8.0366	0.30496	0.3194:0.0:0.6806:0.0	.	606	P54753	EPHB3_HUMAN	N	606	ENSP00000332118:K606N	ENSP00000332118:K606N	K	+	3	2	EPHB3	185779975	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.180000	0.32005	0.331000	0.23511	0.551000	0.68910	AAG		PASS	0.567	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		7	313	7	313	---	---	---	---
NELFA	7469	broad.mit.edu	37	4	1993339	1993339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:1993339G>T	ENST00000411638.2	-	2	329	c.314C>A	c.(313-315)tCg>tAg	p.S105*	NELFA_ENST00000382882.3_Nonsense_Mutation_p.S116*|NELFA_ENST00000542778.1_Intron	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	105					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S105*(1)									CAGGTTAAGCGAGCCTGTGTC	0.532																																						uc003gem.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(346-348)TCG>TAG		Wolf-Hirschhorn syndrome candidate 2 protein							111.0	120.0	117.0					4																	1993339		2203	4300	6503	SO:0001587	stop_gained	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1993339G>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.314C>A	4.37:g.1993339G>T	ENSP00000399165:p.Ser105*					WHSC2_uc003gel.2_Nonsense_Mutation_p.S30*|WHSC2_uc003gen.2_Intron	p.S116*	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		2	587	-			105					A2A2T1|O95392	Nonsense_Mutation	SNP	ENST00000411638.2	37	c.347C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.069226|11.069226	0.99511|0.99511	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000411649|ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.117086	.|0.64402	.|D	.|0.000012	T|.	0.47210|.	0.1433|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37776|.	-0.9691|.	4|.	.|0.02654	.|T	.|1	-15.6368|-15.6368	19.1554|19.1554	0.93507|0.93507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	89|116;109;105;121;35	.|.	.|ENSP00000372335:S116X	R|S	-|-	1|2	0|0	WHSC2|WHSC2	1963137|1963137	1.000000|1.000000	0.71417|0.71417	0.008000|0.008000	0.14137|0.14137	0.045000|0.045000	0.14185|0.14185	9.651000|9.651000	0.98493|0.98493	2.532000|2.532000	0.85374|0.85374	0.462000|0.462000	0.41574|0.41574	CGC|TCG		PASS	0.532	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		4	45	4	45	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3424106	3424106	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:3424106G>A	ENST00000344733.5	+	11	3746	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	RGS12_ENST00000538395.1_Missense_Mutation_p.E290K|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.E948K|RGS12_ENST00000306648.7_Missense_Mutation_p.E346K|RGS12_ENST00000382788.3_Missense_Mutation_p.E948K|RGS12_ENST00000338806.4_Missense_Mutation_p.E300K	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	948					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.E948K(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCCAGTCGGAGGCCTGCAG	0.667																																						uc003ggw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2842-2844)GAG>AAG		regulator of G-protein signalling 12 isoform 1							44.0	39.0	41.0					4																	3424106		2198	4297	6495	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3424106G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2842G>A	4.37:g.3424106G>A	ENSP00000339381:p.Glu948Lys					RGS12_uc003ggv.2_Missense_Mutation_p.E948K|RGS12_uc003ggy.1_Missense_Mutation_p.E346K|RGS12_uc003ggz.2_Missense_Mutation_p.E300K|RGS12_uc010icu.1_Missense_Mutation_p.E147K|RGS12_uc011bvs.1_Missense_Mutation_p.E290K|RGS12_uc003gha.2_Missense_Mutation_p.E290K|RGS12_uc010icv.2_Missense_Mutation_p.E147K|RGS12_uc003ghb.2_Missense_Mutation_p.E147K	p.E948K	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	3746	+			948					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2842G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645731	0.47258	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.35789	1.6;1.6;1.6;1.29;1.3;1.3	4.45	4.45	0.53987	.	0.373648	0.26959	N	0.021630	T	0.38904	0.1058	M	0.65975	2.015	0.58432	D	0.999998	B;P;P;B;P;B;P;P	0.40431	0.042;0.717;0.717;0.12;0.58;0.042;0.462;0.454	B;B;B;B;B;B;B;B	0.42245	0.034;0.227;0.227;0.117;0.381;0.055;0.159;0.234	T	0.27434	-1.0074	10	0.09084	T	0.74	-30.2814	16.1014	0.81175	0.0:0.0:1.0:0.0	.	290;147;147;290;300;346;948;948	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	K	948;948;948;346;300;290	ENSP00000339381:E948K;ENSP00000338509:E948K;ENSP00000372238:E948K;ENSP00000304459:E346K;ENSP00000342133:E300K;ENSP00000438888:E290K	ENSP00000304459:E346K	E	+	1	0	RGS12	3393904	1.000000	0.71417	0.890000	0.34922	0.158000	0.22134	7.391000	0.79828	2.022000	0.59522	0.561000	0.74099	GAG		PASS	0.667	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		6	4	6	4	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25028544	25028544	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:25028544G>A	ENST00000382114.4	-	3	472	c.287C>T	c.(286-288)tCa>tTa	p.S96L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	96						extracellular region (GO:0005576)		p.S96L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GATCGTGAATGAGTTAGAATT	0.383																																						uc003grf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)TCA>TTA		leucine-rich repeat LGI family, member 2							111.0	107.0	108.0					4																	25028544		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25028544G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.287C>T	4.37:g.25028544G>A	ENSP00000371548:p.Ser96Leu						p.S96L	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			3	386	-		Breast(46;0.173)	96			LRR 1.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.287C>T	CCDS3431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.139013|4.139013	0.77775|0.77775	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|D	.|0.90069	.|-2.61	5.92|5.92	5.07|5.07	0.68467|0.68467	.|.	.|0.188987	.|0.47455	.|D	.|0.000223	D|D	0.85978|0.85978	0.5823|0.5823	L|L	0.28115|0.28115	0.83|0.83	0.48696|0.48696	D|D	0.999691|0.999691	.|B	.|0.34264	.|0.446	.|B	.|0.40825	.|0.341	D|D	0.86203|0.86203	0.1620|0.1620	5|10	.|0.66056	.|D	.|0.02	-10.4428|-10.4428	16.3485|16.3485	0.83171|0.83171	0.0:0.0:0.867:0.133|0.0:0.0:0.867:0.133	.|.	.|96	.|Q8N0V4	.|LGI2_HUMAN	Y|L	87|96	.|ENSP00000371548:S96L	.|ENSP00000371548:S96L	H|S	-|-	1|2	0|0	LGI2|LGI2	24637642|24637642	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.993000|0.993000	0.82548|0.82548	9.226000|9.226000	0.95229|0.95229	1.469000|1.469000	0.48083|0.48083	0.655000|0.655000	0.94253|0.94253	CAT|TCA		PASS	0.383	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			34	18	34	18	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73012827	73012827	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:73012827A>C	ENST00000308744.6	+	4	965	c.867A>C	c.(865-867)gaA>gaC	p.E289D	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.E190D|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.E187D	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	289					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.E289D(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)			TGCAAGAAGAAAAATATTACC	0.433																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(865-867)GAA>GAC		neuropeptide FF receptor 2 isoform 1							156.0	156.0	156.0					4																	73012827		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012827A>C	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.867A>C	4.37:g.73012827A>C	ENSP00000307822:p.Glu289Asp					NPFFR2_uc010iig.1_Missense_Mutation_p.E71D|NPFFR2_uc003hgi.2_Missense_Mutation_p.E190D|NPFFR2_uc003hgh.2_Missense_Mutation_p.E187D|NPFFR2_uc003hgj.2_RNA	p.E289D	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	965	+			289			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.867A>C	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	7.039	0.562196	0.13498	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.72394	-0.65;-0.65;-0.65	5.66	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.219310	0.32204	N	0.006427	T	0.52175	0.1718	L	0.37466	1.105	0.48571	D	0.999673	B;B	0.18013	0.007;0.025	B;B	0.21360	0.011;0.034	T	0.28522	-1.0041	10	0.23302	T	0.38	.	3.2665	0.06867	0.5004:0.0:0.2244:0.2752	.	190;289	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	D	289;190;187	ENSP00000307822:E289D;ENSP00000379321:E190D;ENSP00000351599:E187D	ENSP00000307822:E289D	E	+	3	2	NPFFR2	73231691	0.569000	0.26643	0.996000	0.52242	0.012000	0.07955	0.252000	0.18278	0.385000	0.24970	-0.417000	0.06048	GAA		PASS	0.433	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		25	68	25	68	---	---	---	---
THAP6	152815	broad.mit.edu	37	4	76447060	76447060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:76447060C>T	ENST00000311638.3	+	4	471	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	THAP6_ENST00000507556.1_Nonsense_Mutation_p.Q135*|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000514480.1_Nonsense_Mutation_p.Q135*|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507885.1_Nonsense_Mutation_p.Q94*|THAP6_ENST00000380837.3_Intron|THAP6_ENST00000508105.1_Nonsense_Mutation_p.Q94*	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	135						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q135*(1)		lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATTCCAATCCCAGTTCATTTT	0.348																																						uc003him.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(403-405)CAG>TAG		THAP domain containing 6							141.0	140.0	141.0					4																	76447060		2203	4300	6503	SO:0001587	stop_gained	152815					microtubule cytoskeleton	DNA binding|metal ion binding	g.chr4:76447060C>T	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"""THAP (C2CH-type zinc finger) domain containing"""	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.403C>T	4.37:g.76447060C>T	ENSP00000309007:p.Gln135*					THAP6_uc010iis.1_Nonsense_Mutation_p.Q94*|THAP6_uc003hin.2_Intron|THAP6_uc011cbm.1_Nonsense_Mutation_p.Q135*|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.2_Nonsense_Mutation_p.Q135*	p.Q135*	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	500	+			135					B4E146|Q5HYJ7|Q5JPC6	Nonsense_Mutation	SNP	ENST00000311638.3	37	c.403C>T	CCDS3568.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254693	0.80135	.	.	ENSG00000174796	ENST00000311638;ENST00000508105;ENST00000507556;ENST00000507885;ENST00000514480	.	.	.	5.04	5.04	0.67666	.	1.013840	0.07915	N	0.974918	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.3587	14.6167	0.68556	0.0:1.0:0.0:0.0	.	.	.	.	X	135;94;135;94;135	.	ENSP00000309007:Q135X	Q	+	1	0	THAP6	76666084	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	3.704000	0.54815	2.715000	0.92844	0.655000	0.94253	CAG		PASS	0.348	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		32	15	32	15	---	---	---	---
DMP1	1758	broad.mit.edu	37	4	88583873	88583873	+	Missense_Mutation	SNP	G	G	A	rs149603030	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:88583873G>A	ENST00000339673.6	+	6	1042	c.943G>A	c.(943-945)Ggt>Agt	p.G315S	RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.G299S|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	315					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.G315S(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)		AGACAGCAAGGGTGACTCTCA	0.512																																						uc003hqv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(943-945)GGT>AGT		dentin matrix acidic phosphoprotein 1 isoform 1							88.0	86.0	87.0					4																	88583873		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583873G>A	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.943G>A	4.37:g.88583873G>A	ENSP00000340935:p.Gly315Ser					DMP1_uc003hqw.2_Missense_Mutation_p.G299S	p.G315S	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1047	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	315					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.943G>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.393611	0.00200	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.38560	1.13;1.13	5.11	-0.254	0.12992	.	0.688594	0.14195	N	0.335079	T	0.11836	0.0288	N	0.01705	-0.755	0.09310	N	1	B;B	0.18013	0.02;0.025	B;B	0.18871	0.013;0.023	T	0.31138	-0.9954	10	0.02654	T	1	0.503	4.5748	0.12228	0.4268:0.3056:0.2675:0.0	.	299;315	Q13316-2;Q13316	.;DMP1_HUMAN	S	315;299	ENSP00000340935:G315S;ENSP00000282479:G299S	ENSP00000282479:G299S	G	+	1	0	DMP1	88802897	0.048000	0.20356	0.001000	0.08648	0.003000	0.03518	1.169000	0.31871	-0.268000	0.09312	-1.054000	0.02325	GGT		PASS	0.512	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			13	36	13	36	---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103498032	103498032	+	Splice_Site	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:103498032G>T	ENST00000505458.1	+	7	681		c.e7-1		NFKB1_ENST00000600343.1_5'Flank|NFKB1_ENST00000394820.4_Splice_Site|NFKB1_ENST00000226574.4_Splice_Site|NFKB1_ENST00000510638.1_Splice_Site			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1						apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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 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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.?(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TTTTTCTCCAGCTTCGCAAAC	0.388																																						uc011ceq.1																			1	Unknown(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.e7-1		nuclear factor kappa-B, subunit 1 isoform 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						77.0	74.0	75.0					4																	103498032		2203	4300	6503	SO:0001630	splice_region_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103498032G>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.405-1G>T	4.37:g.103498032G>T						NFKB1_uc011cep.1_Splice_Site_p.G136_splice|NFKB1_uc011cer.1_5'Flank	p.G135_splice	NM_003998	NP_003989	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	7	872	+		Hepatocellular(203;0.217)						A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Splice_Site	SNP	ENST00000505458.1	37	c.405_splice	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607314	0.46527	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000507079;ENST00000505458;ENST00000509165	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9047	0.92455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFKB1	103717070	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	8.640000	0.91028	2.457000	0.83068	0.462000	0.41574	.		PASS	0.388	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		Intron	39	18	39	18	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178243682	178243682	+	Missense_Mutation	SNP	G	G	T	rs34112288	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:178243682G>T	ENST00000264596.3	+	2	344	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	76			V -> M (in dbSNP:rs34112288). {ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.V76L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTACAGTGGCGTGGAAACTTT	0.393								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(226-228)GTG>TTG	BER_DNA_glycosylases	nei endonuclease VIII-like 3							207.0	203.0	204.0					4																	178243682		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178243682G>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.226G>T	4.37:g.178243682G>T	ENSP00000264596:p.Val76Leu					NEIL3_uc010irs.2_Intron	p.V76L	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	2	343	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	76					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.226G>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801427	0.70682	.	.	ENSG00000109674	ENST00000264596	T	0.34472	1.36	4.84	4.84	0.62591	DNA glycosylase/AP lyase, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.44850	0.1313	M	0.62016	1.91	0.51767	D	0.999936	P	0.49961	0.93	P	0.49012	0.598	T	0.42548	-0.9445	10	0.49607	T	0.09	-13.3022	13.7988	0.63188	0.0:0.0:1.0:0.0	.	76	Q8TAT5	NEIL3_HUMAN	L	76	ENSP00000264596:V76L	ENSP00000264596:V76L	V	+	1	0	NEIL3	178480676	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	6.224000	0.72265	2.390000	0.81377	0.563000	0.77884	GTG		PASS	0.393	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		12	62	12	62	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13737392	13737392	+	Silent	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:13737392T>C	ENST00000265104.4	-	66	11528	c.11424A>G	c.(11422-11424)caA>caG	p.Q3808Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3808					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q3808Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGAGTTAATTTGAACTTCTG	0.413									Kartagener syndrome																													uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11422-11424)CAA>CAG		dynein, axonemal, heavy chain 5							135.0	137.0	137.0					5																	13737392		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737392T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11424A>G	5.37:g.13737392T>C						DNAH5_uc003jfc.2_Intron	p.Q3808Q	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			66	11466	-	Lung NSC(4;0.00476)		3808			Potential.		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11424A>G	CCDS3882.1																																																																																				PASS	0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		17	70	17	70	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33662055	33662055	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:33662055G>C	ENST00000504830.1	-	6	1341	c.1006C>G	c.(1006-1008)Cct>Gct	p.P336A	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P336A|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	336	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.P336A(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						TGATGAACAGGATTGAGGTCA	0.493										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1006-1008)CCT>GCT		ADAM metallopeptidase with thrombospondin type 1							239.0	196.0	210.0					5																	33662055		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33662055G>C	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.1006C>G	5.37:g.33662055G>C	ENSP00000422554:p.Pro336Ala	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.P336A	p.P336A	NM_030955	NP_112217	P58397	ATS12_HUMAN			6	1169	-			336			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1006C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373154	0.82573	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.62105	0.05;0.05	5.92	5.92	0.95590	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.909;0.999	T	0.76468	-0.2948	10	0.52906	T	0.07	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	336;336	P58397-3;P58397	.;ATS12_HUMAN	A	336	ENSP00000422554:P336A;ENSP00000344847:P336A	ENSP00000344847:P336A	P	-	1	0	ADAMTS12	33697812	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.779000	0.99018	2.822000	0.97130	0.650000	0.86243	CCT		PASS	0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		14	72	14	72	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36049132	36049132	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:36049132C>A	ENST00000282507.3	-	4	803	c.702G>T	c.(700-702)agG>agT	p.R234S	UGT3A2_ENST00000513300.1_Missense_Mutation_p.R200S|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	234					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.R234S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAAACTGGCCTAGAGCCTT	0.418																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(700-702)AGG>AGT		UDP glycosyltransferase 3 family, polypeptide A2							146.0	147.0	147.0					5																	36049132		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049132C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.702G>T	5.37:g.36049132C>A	ENSP00000282507:p.Arg234Ser					UGT3A2_uc011cos.1_Missense_Mutation_p.R200S|UGT3A2_uc011cot.1_Intron	p.R234S	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	795	-	all_lung(31;0.000179)		234			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.702G>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.766074	0.31228	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61742	0.08;0.08	3.45	1.65	0.23941	.	0.165319	0.36932	N	0.002337	T	0.66761	0.2822	M	0.69185	2.1	0.80722	D	1	B;D	0.76494	0.157;0.999	B;D	0.69824	0.105;0.966	T	0.64118	-0.6482	10	0.56958	D	0.05	.	5.5685	0.17184	0.0:0.5468:0.0:0.4532	.	200;234	E9PFK7;Q3SY77	.;UD3A2_HUMAN	S	234;200	ENSP00000282507:R234S;ENSP00000427404:R200S	ENSP00000282507:R234S	R	-	3	2	UGT3A2	36084889	0.996000	0.38824	0.882000	0.34594	0.329000	0.28539	0.419000	0.21247	0.468000	0.27243	0.655000	0.94253	AGG		PASS	0.418	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		101	34	101	34	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37169396	37169396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:37169396C>A	ENST00000508244.1	-	33	6823	c.6730G>T	c.(6730-6732)Gga>Tga	p.G2244*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.G2244*|C5orf42_ENST00000274258.7_Nonsense_Mutation_p.G1124*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2244						integral component of membrane (GO:0016021)		p.G1124*(1)|p.G2244*(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)			GGAATACTTCCTGTATGTAAG	0.448																																						uc011cpa.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(6730-6732)GGA>TGA		hypothetical protein LOC65250							90.0	91.0	91.0					5																	37169396		2203	4300	6503	SO:0001587	stop_gained	65250							g.chr5:37169396C>A		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.6730G>T	5.37:g.37169396C>A	ENSP00000421690:p.Gly2244*					C5orf42_uc011coy.1_Nonsense_Mutation_p.G744*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.G1319*|C5orf42_uc003jkr.1_Nonsense_Mutation_p.G277*	p.G2244*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	6961	-	all_lung(31;0.000616)		2244					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	ENST00000508244.1	37	c.6730G>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	58	31.477544	0.99979	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.53	4.67	0.58626	.	0.341890	0.23384	N	0.048764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	7.3062	0.26449	0.0:0.7689:0.0:0.2311	.	.	.	.	X	2244;2244;1124;1292;1124	.	ENSP00000274258:G1124X	G	-	1	0	C5orf42	37205153	0.001000	0.12720	0.063000	0.19743	0.037000	0.13140	1.270000	0.33086	1.333000	0.45449	0.655000	0.94253	GGA		PASS	0.448	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		6	139	6	139	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109181611	109181611	+	Missense_Mutation	SNP	G	G	T	rs142363192		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:109181611G>T	ENST00000261483.4	+	18	3798	c.2746G>T	c.(2746-2748)Gtc>Ttc	p.V916F		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	916					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.V916F(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCAAGCAAATGTCTATCCCAT	0.378																																						uc003kou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2746-2748)GTC>TTC		mannosidase, alpha, class 2A, member 1							222.0	205.0	211.0					5																	109181611		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109181611G>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2746G>T	5.37:g.109181611G>T	ENSP00000261483:p.Val916Phe						p.V916F	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	18	3709	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	916			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2746G>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	2.500	-0.315321	0.05422	.	.	ENSG00000112893	ENST00000261483	T	0.81330	-1.48	5.51	5.51	0.81932	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.183175	0.48767	D	0.000179	T	0.62502	0.2433	N	0.17922	0.545	0.42996	D	0.994507	B	0.06786	0.001	B	0.15484	0.013	T	0.56123	-0.8031	10	0.06365	T	0.9	-18.2468	8.8737	0.35332	0.0817:0.0:0.7664:0.1519	.	916	Q16706	MA2A1_HUMAN	F	916	ENSP00000261483:V916F	ENSP00000261483:V916F	V	+	1	0	MAN2A1	109209510	1.000000	0.71417	0.792000	0.32020	0.881000	0.50899	1.667000	0.37471	2.756000	0.94617	0.655000	0.94253	GTC		PASS	0.378	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			37	21	37	21	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121188071	121188071	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:121188071G>C	ENST00000321339.1	+	1	422	c.413G>C	c.(412-414)gGc>gCc	p.G138A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	138	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.G138A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CAGCGAGGAGGCCGGATCCGC	0.582																																						uc003kss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)GGC>GCC		ferritin mitochondrial precursor							65.0	67.0	66.0					5																	121188071		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188071G>C	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.413G>C	5.37:g.121188071G>C	ENSP00000313691:p.Gly138Ala						p.G138A	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	422	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	138			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.413G>C	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340931	0.81911	.	.	ENSG00000181867	ENST00000321339	T	0.70869	-0.52	3.6	3.6	0.41247	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	D	0.83257	0.5215	M	0.86268	2.805	0.80722	D	1	D	0.69078	0.997	D	0.64595	0.927	D	0.86327	0.1696	10	0.72032	D	0.01	.	13.5523	0.61738	0.0:0.0:1.0:0.0	.	138	Q8N4E7	FTMT_HUMAN	A	138	ENSP00000313691:G138A	ENSP00000313691:G138A	G	+	2	0	FTMT	121215970	1.000000	0.71417	0.893000	0.35052	0.997000	0.91878	8.984000	0.93482	2.303000	0.77524	0.655000	0.94253	GGC		PASS	0.582	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		25	5	25	5	---	---	---	---
SEPT8	23176	broad.mit.edu	37	5	132099577	132099577	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:132099577G>A	ENST00000378719.2	-	4	592	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	SEPT8_ENST00000296873.7_Missense_Mutation_p.P119S|SEPT8_ENST00000378699.2_Missense_Mutation_p.P59S|SEPT8_ENST00000378701.1_Splice_Site_p.P117S|SEPT8_ENST00000458488.2_Missense_Mutation_p.P119S|SEPT8_ENST00000448933.1_Missense_Mutation_p.P59S|SEPT8_ENST00000378721.4_Splice_Site_p.P117S|SEPT8_ENST00000378706.1_Missense_Mutation_p.P119S	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	119	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.P119S(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAACTATGGGCCTGTAACTA	0.587											OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003kxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(355-357)CCC>TCC		septin 8 isoform a							90.0	88.0	89.0					5																	132099577		1929	4139	6068	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099577G>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.355C>T	5.37:g.132099577G>A	ENSP00000367991:p.Pro119Ser		OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1592	SEPT8_uc003kxs.1_Missense_Mutation_p.P119S|SEPT8_uc003kxu.2_Missense_Mutation_p.P119S|SEPT8_uc011cxi.1_Missense_Mutation_p.P117S|SEPT8_uc003kxv.2_Missense_Mutation_p.P117S|SEPT8_uc003kxt.2_Missense_Mutation_p.P59S	p.P119S	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	593	-		all_cancers(142;0.0751)|Breast(839;0.198)	119					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.355C>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179986	0.78564	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488;ENST00000453480;ENST00000414594;ENST00000371493	T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.80332	2.49	0.80722	D	1	B;B;B;B	0.31640	0.017;0.068;0.333;0.194	B;B;P;B	0.46629	0.061;0.097;0.522;0.136	T	0.68288	-0.5448	10	0.51188	T	0.08	.	11.3337	0.49492	0.0837:0.0:0.9163:0.0	.	117;117;119;119	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	S	119;117;119;59;119;59;117;119;57;59;59	ENSP00000367991:P119S;ENSP00000367993:P117S;ENSP00000296873:P119S;ENSP00000399840:P59S;ENSP00000367978:P119S;ENSP00000367971:P59S;ENSP00000367973:P117S;ENSP00000394766:P119S;ENSP00000407421:P57S;ENSP00000411823:P59S;ENSP00000360548:P59S	ENSP00000296873:P119S	P	-	1	0	SEPT8	132127476	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	8.061000	0.89467	2.196000	0.70406	0.467000	0.42956	CCC		PASS	0.587	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		10	70	10	70	---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156482444	156482444	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:156482444T>G	ENST00000339252.3	-	2	679	c.147A>C	c.(145-147)agA>agC	p.R49S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.R49S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.R49S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.R49S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.R49S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.R49S(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACATGAGCCTCTATTCCAGC	0.502																																						uc010jij.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(145-147)AGA>AGC		hepatitis A virus cellular receptor 1							88.0	82.0	84.0					5																	156482444		1982	4182	6164	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482444T>G	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.147A>C	5.37:g.156482444T>G	ENSP00000344844:p.Arg49Ser					HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.R49S|HAVCR1_uc011ddm.1_Missense_Mutation_p.R49S	p.R49S	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	332	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	49			Extracellular (Potential).|Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.147A>C	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762833	0.49574	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.44	-2.85	0.05734	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.087086	0.47455	D	0.000222	T	0.76948	0.4059	M	0.84326	2.69	0.09310	N	0.999997	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.958	T	0.66118	-0.6003	10	0.87932	D	0	-14.5073	2.3967	0.04392	0.1126:0.2657:0.1158:0.5058	.	49;49	F1CME6;Q96D42	.;HAVR1_HUMAN	S	49	ENSP00000428524:R49S;ENSP00000427898:R49S;ENSP00000344844:R49S;ENSP00000403333:R49S;ENSP00000440258:R49S;ENSP00000428422:R49S	ENSP00000344844:R49S	R	-	3	2	HAVCR1	156415022	0.001000	0.12720	0.027000	0.17364	0.032000	0.12392	-0.166000	0.09954	-0.229000	0.09854	0.528000	0.53228	AGA		PASS	0.502	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			11	9	11	9	---	---	---	---
KCNMB1	3779	broad.mit.edu	37	5	169810700	169810700	+	Silent	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr5:169810700G>T	ENST00000274629.4	-	3	731	c.289C>A	c.(289-291)Cgg>Agg	p.R97R	KCNMB1_ENST00000521859.1_Silent_p.R97R|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	97					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.R97R(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TTCTGGTCCCGAGTGTCCTCC	0.607																																						uc003maq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(289-291)CGG>AGG		potassium large conductance calcium-activated							144.0	108.0	120.0					5																	169810700		2203	4300	6503	SO:0001819	synonymous_variant	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169810700G>T	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.289C>A	5.37:g.169810700G>T						KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Silent_p.R97R	p.R97R	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	3	689	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	97			Extracellular (Potential).		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	c.289C>A	CCDS4373.1																																																																																				PASS	0.607	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			3	30	3	30	---	---	---	---
OR12D3	81797	broad.mit.edu	37	6	29342547	29342547	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr6:29342547T>C	ENST00000396806.3	-	1	521	c.518A>G	c.(517-519)aAt>aGt	p.N173S	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N173S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GAAGAAGTGATTGAGTTTCTG	0.463																																						uc003nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(517-519)AAT>AGT		olfactory receptor, family 12, subfamily D,							84.0	84.0	84.0					6																	29342547		1508	2708	4216	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342547T>C		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.518A>G	6.37:g.29342547T>C	ENSP00000380023:p.Asn173Ser						p.N173S	NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN			1	522	-			173			Extracellular (Potential).		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.518A>G	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	T	3.431	-0.116008	0.06881	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00130	8.69	4.18	0.338	0.15974	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.37561	1.115	0.09310	N	1	B	0.16166	0.016	B	0.18871	0.023	T	0.13872	-1.0493	9	0.22706	T	0.39	-5.1559	5.044	0.14473	0.0:0.1718:0.1553:0.6729	.	173	Q9UGF7	O12D3_HUMAN	S	173	ENSP00000380023:N173S	ENSP00000366348:N173S	N	-	2	0	OR12D3	29450526	0.000000	0.05858	0.007000	0.13788	0.201000	0.24016	0.016000	0.13377	-0.092000	0.12417	0.164000	0.16699	AAT		PASS	0.463	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			19	36	19	36	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32947734	32947734	+	Silent	SNP	A	A	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr6:32947734A>G	ENST00000374825.4	+	11	3672	c.1971A>G	c.(1969-1971)ttA>ttG	p.L657L	BRD2_ENST00000395289.2_Silent_p.L692L|BRD2_ENST00000449085.2_Silent_p.L610L|BRD2_ENST00000443797.2_Silent_p.L537L|BRD2_ENST00000374831.4_Silent_p.L657L|BRD2_ENST00000395287.1_Silent_p.L692L	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	657	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.L692L(1)		central_nervous_system(3)|stomach(2)	5						TCAACAAATTACCTGGGGAGA	0.502																																						uc003ocn.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|stomach(2)	5						c.(1969-1971)TTA>TTG		bromodomain containing 2							54.0	56.0	55.0					6																	32947734		1509	2709	4218	SO:0001819	synonymous_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32947734A>G	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1971A>G	6.37:g.32947734A>G						BRD2_uc003ocq.3_Silent_p.L657L|BRD2_uc003ocp.3_Silent_p.L537L|BRD2_uc010juh.2_Silent_p.L692L	p.L657L	NM_005104	NP_005095	P25440	BRD2_HUMAN			11	3672	+			657			ET.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	c.1971A>G	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554703	0.27739	.	.	ENSG00000204256	ENST00000449025	.	.	.	5.51	0.606	0.17559	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28650	-1.0037	4	.	.	.	-8.4023	8.2072	0.31463	0.6632:0.0:0.3368:0.0	.	.	.	.	C	663	.	.	Y	+	2	0	BRD2	33055712	0.993000	0.37304	0.997000	0.53966	0.997000	0.91878	0.341000	0.19909	-0.029000	0.13827	0.523000	0.50628	TAC		PASS	0.502	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			13	19	13	19	---	---	---	---
UNC5CL	222643	broad.mit.edu	37	6	41002666	41002666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr6:41002666C>A	ENST00000373164.1	-	1	208	c.148G>T	c.(148-150)Gag>Tag	p.E50*	UNC5CL_ENST00000244565.3_Nonsense_Mutation_p.E50*|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	50					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.E50*(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTGGTTCCTCTTGACCATTC	0.597																																						uc003opi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(148-150)GAG>TAG		unc-5 homolog C-like							100.0	92.0	95.0					6																	41002666		2203	4300	6503	SO:0001587	stop_gained	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002666C>A	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.148G>T	6.37:g.41002666C>A	ENSP00000362258:p.Glu50*					UNC5CL_uc010jxe.1_Nonsense_Mutation_p.E50*	p.E50*	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			2	237	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		50			Cytoplasmic (Potential).		Q5TGU1	Nonsense_Mutation	SNP	ENST00000373164.1	37	c.148G>T	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227333	0.39399	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	.	.	.	4.49	2.62	0.31277	.	0.257496	0.27591	N	0.018690	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.212	10.5466	0.45064	0.0:0.6168:0.3832:0.0	.	.	.	.	X	50	.	ENSP00000244565:E50X	E	-	1	0	UNC5CL	41110644	0.002000	0.14202	0.897000	0.35233	0.045000	0.14185	0.197000	0.17197	0.480000	0.27534	-0.300000	0.09419	GAG		PASS	0.597	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		4	42	4	42	---	---	---	---
RMND1	55005	broad.mit.edu	37	6	151766462	151766462	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr6:151766462G>T	ENST00000367303.4	-	2	607	c.485C>A	c.(484-486)cCa>cAa	p.P162Q	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	162					translation (GO:0006412)	mitochondrion (GO:0005739)		p.P162Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		AGACAGAACTGGAAGGTTGGT	0.502																																						uc003qoi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)CCA>CAA		required for meiotic nuclear division 1 homolog							65.0	69.0	68.0					6																	151766462		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151766462G>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.485C>A	6.37:g.151766462G>T	ENSP00000356272:p.Pro162Gln					RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.P162Q|RMND1_uc011eer.1_Missense_Mutation_p.P162Q	p.P162Q	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	665	-		Ovarian(120;0.125)	162					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.485C>A	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013107	0.75161	.	.	ENSG00000155906	ENST00000367303	T	0.46451	0.87	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.97110	1.0;0.905	T	0.45585	-0.9251	10	0.48119	T	0.1	-16.9355	18.8871	0.92383	0.0:0.0:1.0:0.0	.	162;162	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	Q	162	ENSP00000356272:P162Q	ENSP00000356272:P162Q	P	-	2	0	RMND1	151808155	1.000000	0.71417	0.947000	0.38551	0.673000	0.39480	4.919000	0.63383	2.559000	0.86315	0.563000	0.77884	CCA		PASS	0.502	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		4	35	4	35	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155578117	155578117	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr6:155578117C>A	ENST00000461783.3	+	29	6241	c.4968C>A	c.(4966-4968)caC>caA	p.H1656Q	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000360366.4_Missense_Mutation_p.H1680Q|TIAM2_ENST00000367174.2_Missense_Mutation_p.H1032Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.H1656Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.H1685Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.H1000Q|TIAM2_ENST00000275246.7_Missense_Mutation_p.H581Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.H1685Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.H968Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1656					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H1656Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGATCCGTCACCAGTCCCTTG	0.507																																						uc003qqb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(4966-4968)CAC>CAA		T-cell lymphoma invasion and metastasis 2							88.0	82.0	84.0					6																	155578117		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155578117C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4968C>A	6.37:g.155578117C>A	ENSP00000437188:p.His1656Gln					TIAM2_uc003qqe.2_Missense_Mutation_p.H1656Q|TIAM2_uc010kjj.2_Missense_Mutation_p.H1218Q|TIAM2_uc003qqf.2_Missense_Mutation_p.H1032Q|TIAM2_uc011efl.1_Missense_Mutation_p.H1000Q|TIAM2_uc003qqg.2_Missense_Mutation_p.H968Q|TIAM2_uc003qqh.2_Missense_Mutation_p.H581Q|uc003qqi.1_5'Flank	p.H1656Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6241	+		Ovarian(120;0.196)	1656					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4968C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375433	0.61735	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08102	3.61;3.51;3.61;3.43;3.58;3.51;3.41;3.42;3.13	5.85	3.77	0.43336	.	0.265926	0.43416	D	0.000574	T	0.09818	0.0241	L	0.59436	1.845	0.34911	D	0.747514	D;D;D;D	0.57571	0.965;0.98;0.98;0.965	P;P;P;P	0.55615	0.63;0.78;0.78;0.608	T	0.02257	-1.1187	10	0.66056	D	0.02	.	10.541	0.45033	0.0:0.7791:0.0:0.2209	.	1000;1685;1680;1656	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	Q	1656;1902;1685;1656;1032;1680;1685;968;1000;581	ENSP00000437188:H1656Q;ENSP00000407746:H1685Q;ENSP00000327315:H1656Q;ENSP00000356142:H1032Q;ENSP00000353528:H1680Q;ENSP00000433348:H1685Q;ENSP00000407183:H968Q;ENSP00000435335:H1000Q;ENSP00000275246:H581Q	ENSP00000275246:H581Q	H	+	3	2	TIAM2	155619809	0.997000	0.39634	0.999000	0.59377	0.917000	0.54804	0.682000	0.25335	1.481000	0.48307	0.655000	0.94253	CAC		PASS	0.507	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		15	19	15	19	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155750148	155750148	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr6:155750148G>A	ENST00000159060.2	-	9	1027	c.925C>T	c.(925-927)Cac>Tac	p.H309Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	309	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.H309Y(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTTTTCATGTGAAGTTCCAGG	0.493																																						uc003qqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(925-927)CAC>TAC		NADPH oxidase 3							98.0	99.0	98.0					6																	155750148		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750148G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.925C>T	6.37:g.155750148G>A	ENSP00000159060:p.His309Tyr						p.H309Y	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1028	-		Breast(66;0.0183)	309			Extracellular (Potential).|FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.925C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650857	0.67472	.	.	ENSG00000074771	ENST00000159060	D	0.92249	-3.0	5.92	4.11	0.48088	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.634735	0.16279	N	0.221458	D	0.85004	0.5598	L	0.38733	1.17	0.40720	D	0.982658	P	0.35821	0.523	B	0.42138	0.377	D	0.83369	0.0006	10	0.56958	D	0.05	-0.434	11.1796	0.48620	0.0661:0.0:0.8055:0.1284	.	309	Q9HBY0	NOX3_HUMAN	Y	309	ENSP00000159060:H309Y	ENSP00000159060:H309Y	H	-	1	0	NOX3	155791840	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.280000	0.65603	0.806000	0.34183	0.655000	0.94253	CAC		PASS	0.493	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			5	115	5	115	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158900915	158900915	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr6:158900915A>T	ENST00000367097.3	+	7	2516	c.1159A>T	c.(1159-1161)Agc>Tgc	p.S387C	TULP4_ENST00000367094.2_Missense_Mutation_p.S387C	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	387	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S387C(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGCCATCGCCAGCACCTTGCG	0.627																																						uc003qrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1159-1161)AGC>TGC		tubby like protein 4 isoform 1							98.0	87.0	91.0					6																	158900915		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900915A>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1159A>T	6.37:g.158900915A>T	ENSP00000356064:p.Ser387Cys					TULP4_uc011efo.1_Missense_Mutation_p.S387C|TULP4_uc003qrg.2_Missense_Mutation_p.S387C	p.S387C	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2516	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	387			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1159A>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576176	0.86645	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.50001	0.76;0.76	5.63	5.63	0.86233	Tumour necrosis factor-like (1);SOCS protein, C-terminal (3);	0.312437	0.38326	N	0.001734	T	0.44808	0.1311	N	0.24115	0.695	0.45097	D	0.99811	D;P;D	0.71674	0.99;0.911;0.998	P;P;D	0.64877	0.819;0.621;0.93	T	0.53265	-0.8463	10	0.66056	D	0.02	-19.0889	15.8379	0.78814	1.0:0.0:0.0:0.0	.	387;387;387	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	C	387	ENSP00000356064:S387C;ENSP00000356061:S387C	ENSP00000356061:S387C	S	+	1	0	TULP4	158820903	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	3.821000	0.55700	2.142000	0.66516	0.459000	0.35465	AGC		PASS	0.627	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		19	18	19	18	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53104165	53104165	+	Silent	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:53104165C>T	ENST00000408890.4	+	1	817	c.801C>T	c.(799-801)ttC>ttT	p.F267F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	267								p.F267F(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGGGACTTCTGGGAGGCGA	0.642																																						uc003tpz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)TTC>TTT		POM121 membrane glycoprotein-like 12							50.0	56.0	54.0					7																	53104165		2014	4175	6189	SO:0001819	synonymous_variant	285877							g.chr7:53104165C>T		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.801C>T	7.37:g.53104165C>T							p.F267F	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	817	+			267					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.801C>T	CCDS43584.1																																																																																				PASS	0.642	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		18	219	18	219	---	---	---	---
MRPS17	51373	broad.mit.edu	37	7	56020981	56020981	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:56020981C>A	ENST00000285298.4	+	2	222	c.93C>A	c.(91-93)acC>acA	p.T31T	MRPS17_ENST00000426595.1_Silent_p.T126T	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	31					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.T31T(1)		kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGAGTGACCAGGCTTGTTC	0.458																																						uc003trd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)ACC>ACA		mitochondrial ribosomal protein S17 precursor							173.0	152.0	159.0					7																	56020981		2203	4300	6503	SO:0001819	synonymous_variant	51373				translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr7:56020981C>A	AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.93C>A	7.37:g.56020981C>A						MRPS17_uc003trb.2_Silent_p.T126T	p.T31T	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	123	+	Breast(14;0.214)		31					Q86X15	Silent	SNP	ENST00000285298.4	37	c.93C>A	CCDS5520.1																																																																																				PASS	0.458	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2	NM_015969		7	447	7	447	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80439994	80439994	+	Silent	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:80439994G>C	ENST00000265361.3	-	6	1032	c.471C>G	c.(469-471)tcC>tcG	p.S157S	SEMA3C_ENST00000419255.2_Silent_p.S157S|SEMA3C_ENST00000544525.1_Silent_p.S175S|SEMA3C_ENST00000536800.1_Silent_p.S9S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	157	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.S157S(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTCACACTTGGAGTCAATCA	0.358																																						uc003uhj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(469-471)TCC>TCG		semaphorin 3C precursor							156.0	144.0	148.0					7																	80439994		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80439994G>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.471C>G	7.37:g.80439994G>C						SEMA3C_uc011kgw.1_Silent_p.S175S|SEMA3C_uc011kgx.1_Silent_p.S9S	p.S157S	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			6	1033	-			157			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.471C>G	CCDS5596.1																																																																																				PASS	0.358	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		26	41	26	41	---	---	---	---
UFSP1	402682	broad.mit.edu	37	7	100486765	100486765	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:100486765A>T	ENST00000388761.2	-	1	574	c.128T>A	c.(127-129)cTg>cAg	p.L43Q		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	43						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)	p.L43Q(1)		lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCCCCGTGCAGCCCCACTCC	0.701																																						uc003uxc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CTG>CAG		inactive Ufm1-specific protease 1							25.0	26.0	26.0					7																	100486765		2202	4298	6500	SO:0001583	missense	402682							g.chr7:100486765A>T	AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.128T>A	7.37:g.100486765A>T	ENSP00000373413:p.Leu43Gln					uc010lhm.1_5'Flank	p.L43Q	NM_001015072	NP_001015072	Q6NVU6	UFSP1_HUMAN			1	575	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		43					A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Missense_Mutation	SNP	ENST00000388761.2	37	c.128T>A	CCDS34710.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763958	0.49574	.	.	ENSG00000176125	ENST00000388761	T	0.33216	1.42	4.43	3.18	0.36537	.	0.392044	0.20353	N	0.094008	T	0.52725	0.1752	M	0.84683	2.71	0.42665	D	0.993494	D	0.63046	0.992	D	0.63793	0.918	T	0.58741	-0.7583	10	0.72032	D	0.01	-12.0535	8.6305	0.33917	0.8281:0.0:0.0:0.1719	.	43	Q6NVU6	UFSP1_HUMAN	Q	43	ENSP00000373413:L43Q	ENSP00000373413:L43Q	L	-	2	0	UFSP1	100324701	1.000000	0.71417	0.297000	0.24988	0.005000	0.04900	5.569000	0.67391	1.990000	0.58119	0.397000	0.26171	CTG		PASS	0.701	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356751.1	NM_001015072		12	26	12	26	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558921	113558921	+	Missense_Mutation	SNP	C	C	A	rs201521408		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:113558921C>A	ENST00000284601.3	-	1	199	c.131G>T	c.(130-132)cGa>cTa	p.R44L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	44					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.R44L(1)		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						ATCAGAACCTCGTCTACTTGG	0.378																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(130-132)CGA>CTA		protein phosphatase 1, regulatory (inhibitor)							82.0	81.0	81.0					7																	113558921		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558921C>A	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.131G>T	7.37:g.113558921C>A	ENSP00000284601:p.Arg44Leu						p.R44L	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	162	-			44					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.131G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199162	0.79015	.	.	ENSG00000154415	ENST00000284601	T	0.22945	1.93	6.17	6.17	0.99709	.	0.065539	0.64402	D	0.000019	T	0.55893	0.1949	M	0.76002	2.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.53760	-0.8393	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	44	Q16821	PPR3A_HUMAN	L	44	ENSP00000284601:R44L	ENSP00000284601:R44L	R	-	2	0	PPP1R3A	113346157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.783000	0.47766	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		4	96	4	96	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127222187	127222187	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:127222187G>A	ENST00000321407.2	-	2	2633	c.2209C>T	c.(2209-2211)Ctg>Ttg	p.L737L	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	737	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.L737L(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGCGGCCCAGGGAGTCAGGT	0.532																																						uc003vma.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2209-2211)CTG>TTG		Golgi coiled-coil protein 1							227.0	222.0	224.0					7																	127222187		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222187G>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2209C>T	7.37:g.127222187G>A							p.L737L	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	2627	-			737			Potential.|GRIP.		Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.2209C>T	CCDS5796.1																																																																																				PASS	0.532	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		18	68	18	68	---	---	---	---
MKRN1	23608	broad.mit.edu	37	7	140156495	140156495	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:140156495G>A	ENST00000255977.2	-	5	1167	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	MKRN1_ENST00000474576.1_Missense_Mutation_p.R251C|MKRN1_ENST00000480552.1_Silent_p.F98F|MKRN1_ENST00000437223.2_Missense_Mutation_p.R49C|MKRN1_ENST00000443720.2_Missense_Mutation_p.R315C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	315					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R315C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCCACTTGCGAATGCACTTG	0.488																																						uc003vvt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(943-945)CGC>TGC		makorin ring finger protein 1 isoform 1							86.0	74.0	78.0					7																	140156495		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140156495G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.943C>T	7.37:g.140156495G>A	ENSP00000255977:p.Arg315Cys					MKRN1_uc003vvs.2_Missense_Mutation_p.R251C|MKRN1_uc011krd.1_Missense_Mutation_p.R49C|MKRN1_uc003vvv.3_Missense_Mutation_p.R315C|MKRN1_uc003vvu.3_Missense_Mutation_p.R251C	p.R315C	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			5	1168	-	Melanoma(164;0.00956)		315			RING-type.		A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.943C>T	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524863	0.64747	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576;ENST00000443720	T;D;T;D	0.87412	0.96;-2.25;0.96;-2.25	5.82	5.82	0.92795	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.046152	0.85682	N	0.000000	D	0.92996	0.7771	M	0.89287	3.02	0.80722	D	1	D	0.53312	0.959	P	0.52217	0.693	D	0.93658	0.6979	10	0.72032	D	0.01	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	315	Q9UHC7	MKRN1_HUMAN	C	315;251;49;251;315	ENSP00000255977:R315C;ENSP00000439823:R49C;ENSP00000417863:R251C;ENSP00000416369:R315C	ENSP00000255977:R315C	R	-	1	0	MKRN1	139802964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.082000	0.71318	2.767000	0.95098	0.655000	0.94253	CGC		PASS	0.488	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		13	40	13	40	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11995031	11995031	+	Silent	SNP	G	G	C	rs553639667	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:11995031G>C	ENST00000333796.3	-	1	1555	c.1239C>G	c.(1237-1239)ccC>ccG	p.P413P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	413	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P413P(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCTGGAGGCAGGGGTGGTCTC	0.567																																						uc003wvc.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(1237-1239)CCC>CCG		deubiquitinating enzyme 3							52.0	57.0	55.0					8																	11995031		1679	3774	5453	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995031G>C	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1239C>G	8.37:g.11995031G>C						FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.P413P	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	1239	-			413						Silent	SNP	ENST00000333796.3	37	c.1239C>G	CCDS43713.1																																																																																				PASS	0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		39	68	39	68	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55539267	55539267	+	Missense_Mutation	SNP	C	C	T	rs112323560		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:55539267C>T	ENST00000220676.1	+	4	2973	c.2825C>T	c.(2824-2826)aCg>aTg	p.T942M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	942					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T942M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAAATGAAACGAGTGTGGTA	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		19169	0.001		0.0	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(2824-2826)ACG>ATG		retinitis pigmentosa RP1 protein							39.0	42.0	41.0					8																	55539267		2203	4298	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539267C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2825C>T	8.37:g.55539267C>T	ENSP00000220676:p.Thr942Met					RP1_uc011ldy.1_Intron	p.T942M	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2973	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	942						Missense_Mutation	SNP	ENST00000220676.1	37	c.2825C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	1.070	-0.670190	0.03403	.	.	ENSG00000104237	ENST00000220676	T	0.42900	0.96	5.89	-3.15	0.05233	.	0.804795	0.11578	N	0.550082	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12243	-1.0555	10	0.44086	T	0.13	.	0.3765	0.00388	0.3011:0.2:0.2904:0.2085	.	942	P56715	RP1_HUMAN	M	942	ENSP00000220676:T942M	ENSP00000220676:T942M	T	+	2	0	RP1	55701820	0.026000	0.19158	0.000000	0.03702	0.007000	0.05969	0.204000	0.17335	-0.649000	0.05430	-2.316000	0.00254	ACG		PASS	0.303	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		12	34	12	34	---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76470903	76470903	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:76470903C>A	ENST00000354370.1	+	8	1013	c.743C>A	c.(742-744)cCa>cAa	p.P248Q	HNF4G_ENST00000396423.2_Missense_Mutation_p.P285Q			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	248					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P285Q(1)|p.P248Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTTTGATCCAGGTTGGTTT	0.303																																						uc003yaq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(742-744)CCA>CAA		hepatocyte nuclear factor 4, gamma							148.0	155.0	153.0					8																	76470903		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76470903C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.743C>A	8.37:g.76470903C>A	ENSP00000346339:p.Pro248Gln					HNF4G_uc003yar.2_Missense_Mutation_p.P285Q	p.P248Q	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		8	1013	+	Breast(64;0.0448)		248					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.743C>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.479862	0.84747	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.96334	-3.98;-3.98	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.99153	1.0859	10	0.87932	D	0	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	285;248	F1D8Q4;Q14541	.;HNF4G_HUMAN	Q	248;285	ENSP00000346339:P248Q;ENSP00000379701:P285Q	ENSP00000346339:P248Q	P	+	2	0	HNF4G	76633458	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.440000	0.80464	2.809000	0.96659	0.655000	0.94253	CCA		PASS	0.303	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		5	145	5	145	---	---	---	---
PSKH2	85481	broad.mit.edu	37	8	87060971	87060971	+	Missense_Mutation	SNP	G	G	T	rs376367089		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:87060971G>T	ENST00000276616.2	-	3	952	c.878C>A	c.(877-879)gCg>gAg	p.A293E		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A293E(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AAAGTCCTTCGCCAAGTGGGA	0.423																																						uc011lfy.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(877-879)GCG>GAG		protein serine kinase H2							50.0	54.0	53.0					8																	87060971		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87060971G>T	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.878C>A	8.37:g.87060971G>T	ENSP00000276616:p.Ala293Glu						p.A293E	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		3	878	-			293			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.878C>A	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524626	0.64747	.	.	ENSG00000147613	ENST00000276616	T	0.68765	-0.35	4.85	2.05	0.26809	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.79458	0.4449	M	0.82630	2.6	0.32063	N	0.595505	D	0.89917	1.0	D	0.91635	0.999	T	0.77734	-0.2477	9	0.87932	D	0	.	6.2672	0.20934	0.1764:0.1533:0.6703:0.0	.	293	Q96QS6	KPSH2_HUMAN	E	293	ENSP00000276616:A293E	ENSP00000276616:A293E	A	-	2	0	PSKH2	87130087	1.000000	0.71417	0.543000	0.28128	0.815000	0.46073	4.909000	0.63314	0.112000	0.17975	0.555000	0.69702	GCG		PASS	0.423	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		9	30	9	30	---	---	---	---
MATN2	4147	broad.mit.edu	37	8	98943719	98943720	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:98943719_98943720GC>AA	ENST00000520016.1	+	2	805_806	c.681_682GC>AA	c.(679-684)acGCtg>acAAtg	p.L228M	MATN2_ENST00000254898.5_Missense_Mutation_p.L228M|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.L228M|MATN2_ENST00000521689.1_Missense_Mutation_p.L228M			O00339	MATN2_HUMAN	matrilin 2	228	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.L228M(4)|p.T227T(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)			AGATTGAGACGCTGACCTCCGT	0.48																																						uc003yic.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)	2						c.(679-681)ACG>ACA|c.(682-684)CTG>ATG		matrilin 2 isoform a precursor																																				SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943719G>A|g.chr8:98943720C>A	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		Exception_encountered	8.37:g.98943719_98943720delinsAA	ENSP00000430487:p.Leu228Met					MATN2_uc003yib.1_Silent_p.T227T|MATN2_uc010mbh.1_Silent_p.T227T|MATN2_uc003yid.2_Silent_p.T227T|MATN2_uc003yie.1_Silent_p.T227T|MATN2_uc010mbi.1_Silent_p.T101T|MATN2_uc003yib.1_Missense_Mutation_p.L228M|MATN2_uc010mbh.1_Missense_Mutation_p.L228M|MATN2_uc003yid.2_Missense_Mutation_p.L228M|MATN2_uc003yie.1_Missense_Mutation_p.L228M|MATN2_uc010mbi.1_Missense_Mutation_p.L102M	p.T227T|p.L228M	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	912|913	+	Breast(36;1.43e-06)		227|228			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent|Missense_Mutation	SNP	ENST00000520016.1	37	c.681G>A|c.682C>A	CCDS55264.1																																																																																				PASS	0.480	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			17	45	17	45	---	---	---	---
KCNS2	3788	broad.mit.edu	37	8	99441494	99441494	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:99441494C>A	ENST00000287042.4	+	2	1637	c.1287C>A	c.(1285-1287)agC>agA	p.S429R	KCNS2_ENST00000521839.1_Missense_Mutation_p.S429R	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	429					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)	p.S429R(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCATGCGCAGCTGTGACTTTG	0.488																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1285-1287)AGC>AGA		potassium voltage-gated channel,							113.0	115.0	114.0					8																	99441494		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441494C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1287C>A	8.37:g.99441494C>A	ENSP00000287042:p.Ser429Arg						p.S429R	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1637	+	Breast(36;2.4e-06)		429			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1287C>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	7.296	0.612014	0.14066	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96459	-4.02;-4.02	6.07	5.2	0.72013	.	0.044172	0.85682	D	0.000000	D	0.87645	0.6229	N	0.19112	0.55	0.43300	D	0.995293	P	0.43477	0.808	B	0.33392	0.163	D	0.87111	0.2185	10	0.02654	T	1	.	7.8148	0.29252	0.0:0.7267:0.1343:0.1391	.	429	Q9ULS6	KCNS2_HUMAN	R	429	ENSP00000287042:S429R;ENSP00000430712:S429R	ENSP00000287042:S429R	S	+	3	2	KCNS2	99510670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.101000	0.57769	1.582000	0.49881	0.655000	0.94253	AGC		PASS	0.488	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		15	124	15	124	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100789166	100789166	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:100789166C>A	ENST00000358544.2	+	41	7597	c.7486C>A	c.(7486-7488)Ctt>Att	p.L2496I	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2471I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2496					protein transport (GO:0015031)			p.L2471I(1)|p.L2496I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGTCATCACCTTGACCAACT	0.408																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7486-7488)CTT>ATT		vacuolar protein sorting 13B isoform 5							242.0	203.0	216.0					8																	100789166		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100789166C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7486C>A	8.37:g.100789166C>A	ENSP00000351346:p.Leu2496Ile					VPS13B_uc003yiw.2_Missense_Mutation_p.L2471I	p.L2496I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7597	+	Breast(36;3.73e-07)		2496					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7486C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677366	0.47886	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70516	-0.49;-0.49	5.73	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.75613	0.3873	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.918	T	0.73004	-0.4119	10	0.27785	T	0.31	.	14.6143	0.68537	0.0:0.9302:0.0:0.0698	.	2471;2496	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	2471;2496	ENSP00000349685:L2471I;ENSP00000351346:L2496I	ENSP00000349685:L2471I	L	+	1	0	VPS13B	100858342	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.139000	0.42149	1.419000	0.47118	0.650000	0.86243	CTT		PASS	0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		5	97	5	97	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103309124	103309124	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:103309124C>A	ENST00000520539.1	-	28	4268	c.3662G>T	c.(3661-3663)tGc>tTc	p.C1221F	UBR5_ENST00000521922.1_Missense_Mutation_p.C1215F|UBR5_ENST00000220959.4_Missense_Mutation_p.C1221F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1221					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.C1221F(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACTCACTTGCAATCATGACC	0.328																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(3661-3663)TGC>TTC		ubiquitin protein ligase E3 component n-recognin							74.0	73.0	73.0					8																	103309124		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103309124C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3662G>T	8.37:g.103309124C>A	ENSP00000429084:p.Cys1221Phe					UBR5_uc003yks.1_Missense_Mutation_p.C1221F	p.C1221F	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		28	3695	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1221			UBR-type.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3662G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579278	0.86645	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	D;D;D	0.81739	-1.53;-1.53;-1.53	5.86	4.97	0.65823	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.046659	0.85682	D	0.000000	D	0.88644	0.6492	M	0.72479	2.2	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.79784	0.993;0.993	D	0.88835	0.3308	10	0.66056	D	0.02	.	15.9272	0.79628	0.0:0.9324:0.0:0.0676	.	1215;1221	E7EMW7;O95071	.;UBR5_HUMAN	F	1221;1221;1215	ENSP00000429084:C1221F;ENSP00000220959:C1221F;ENSP00000427819:C1215F	ENSP00000220959:C1221F	C	-	2	0	UBR5	103378300	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.835000	0.69368	2.937000	0.99478	0.650000	0.86243	TGC		PASS	0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	15	10	15	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110478882	110478882	+	Missense_Mutation	SNP	G	G	A	rs373099174		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:110478882G>A	ENST00000378402.5	+	50	8593	c.8489G>A	c.(8488-8490)aGc>aAc	p.S2830N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2830					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S2832N(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)			GCTGAGTGGAGCATTGGGTTC	0.468										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8488-8490)AGC>AAC		fibrocystin L precursor		G	ASN/SER	0,3930		0,0,1965	105.0	99.0	101.0		8489	6.2	1.0	8		101	1,8327		0,1,4163	no	missense	PKHD1L1	NM_177531.4	46	0,1,6128	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	2830/4244	110478882	1,12257	1965	4164	6129	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110478882G>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.8489G>A	8.37:g.110478882G>A	ENSP00000367655:p.Ser2830Asn	HNSCC(38;0.096)					p.S2830N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		50	8593	+			2830			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8489G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518420	0.85495	0.0	1.2E-4	ENSG00000205038	ENST00000378402	D	0.86562	-2.14	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	M	0.64676	1.99	0.36132	D	0.846199	B	0.33777	0.425	B	0.42738	0.396	D	0.88634	0.3171	10	0.33940	T	0.23	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	2830	Q86WI1	PKHL1_HUMAN	N	2830	ENSP00000367655:S2830N	ENSP00000367655:S2830N	S	+	2	0	PKHD1L1	110548058	1.000000	0.71417	0.986000	0.45419	0.756000	0.42949	6.488000	0.73637	2.937000	0.99478	0.650000	0.86243	AGC		PASS	0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	12	4	12	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124663821	124663821	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:124663821A>T	ENST00000325995.7	-	1	1369	c.1346T>A	c.(1345-1347)aTc>aAc	p.I449N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	449								p.I449N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ATTTACCTGGATAAGGCGCAC	0.527																																						uc003yqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1345-1347)ATC>AAC		kelch-like 38							143.0	142.0	142.0					8																	124663821		2035	4211	6246	SO:0001583	missense	340359							g.chr8:124663821A>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.1346T>A	8.37:g.124663821A>T	ENSP00000321475:p.Ile449Asn						p.I449N	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	1370	-			449			Kelch 4.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1346T>A	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734664	0.69189	.	.	ENSG00000175946	ENST00000325995	T	0.68765	-0.35	5.48	5.48	0.80851	Kelch-type beta propeller (1);	0.042719	0.85682	D	0.000000	T	0.73705	0.3621	M	0.81341	2.54	0.80722	D	1	P	0.41159	0.74	B	0.43990	0.438	T	0.78674	-0.2112	10	0.87932	D	0	.	15.574	0.76362	1.0:0.0:0.0:0.0	.	449	Q2WGJ6	KLH38_HUMAN	N	449	ENSP00000321475:I449N	ENSP00000321475:I449N	I	-	2	0	KLHL38	124733002	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.281000	0.95811	2.079000	0.62486	0.459000	0.35465	ATC		PASS	0.527	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			21	102	21	102	---	---	---	---
SLURP1	57152	broad.mit.edu	37	8	143823221	143823221	+	Splice_Site	SNP	C	C	A	rs200727790		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:143823221C>A	ENST00000246515.1	-	2	203	c.178G>T	c.(178-180)Gag>Tag	p.E60*		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	60	UPAR/Ly6.				cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.E60*(1)		breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGCCTCACCTGCCTCCACC	0.662																																						uc003ywy.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(178-180)GAG>TAG		ARS component B precursor							84.0	73.0	77.0					8																	143823221		2203	4300	6503	SO:0001630	splice_region_variant	57152				cell activation|cell adhesion	extracellular space	cytokine activity	g.chr8:143823221C>A	AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"""lymphocyte antigen 6-like secreted"", ""ARS component B"""	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.178+1G>T	8.37:g.143823221C>A							p.E60*	NM_020427	NP_065160	P55000	SLUR1_HUMAN			2	204	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		60			UPAR/Ly6.		Q53YJ6|Q6PUA6|Q92483	Nonsense_Mutation	SNP	ENST00000246515.1	37	c.178G>T	CCDS6387.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995585	0.74703	.	.	ENSG00000126233	ENST00000246515	.	.	.	4.17	4.17	0.49024	.	0.489617	0.17603	N	0.168354	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.4654	12.2983	0.54860	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	.	E	-	1	0	SLURP1	143820223	0.313000	0.24554	0.873000	0.34254	0.076000	0.17211	2.122000	0.41987	2.028000	0.59812	0.462000	0.41574	GAG		PASS	0.662	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379741.1	NM_020427	Nonsense_Mutation	6	22	6	22	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144886281	144886281	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr8:144886281C>T	ENST00000320476.3	-	22	3061	c.3055G>A	c.(3055-3057)Gtc>Atc	p.V1019I	SCRIB_ENST00000377533.3_Missense_Mutation_p.V938I|SCRIB_ENST00000356994.2_Missense_Mutation_p.V1019I	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1019	Interaction with ARHGEF7.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.V1019I(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAGCCTCCGACAATACTAAGC	0.617																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(3055-3057)GTC>ATC		scribble isoform b							33.0	35.0	34.0					8																	144886281		2201	4300	6501	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144886281C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3055G>A	8.37:g.144886281C>T	ENSP00000322938:p.Val1019Ile					SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.V1019I	p.V1019I	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		22	3062	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1019			Interaction with ARHGEF7.|PDZ 3.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.3055G>A	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.93|16.93	3.258575|3.258575	0.59321|0.59321	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.|T;T;T	.|0.29655	.|1.56;1.56;1.56	4.49|4.49	4.49|4.49	0.54785|0.54785	.|PDZ/DHR/GLGF (4);	.|.	.|.	.|.	.|.	T|T	0.38108|0.38108	0.1028|0.1028	N|N	0.26130|0.26130	0.795|0.795	0.51767|0.51767	D|D	0.99993|0.99993	.|D;D	.|0.65815	.|0.995;0.994	.|D;P	.|0.64595	.|0.927;0.881	T|T	0.06899|0.06899	-1.0801|-1.0801	5|9	.|0.22706	.|T	.|0.39	.|.	14.6887|14.6887	0.69068|0.69068	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1019;1019	.|Q14160;Q14160-3	.|SCRIB_HUMAN;.	Y|I	14|1019;1019;938;388	.|ENSP00000349486:V1019I;ENSP00000322938:V1019I;ENSP00000366756:V938I	.|ENSP00000322938:V1019I	C|V	-|-	2|1	0|0	SCRIB|SCRIB	144958269|144958269	0.999000|0.999000	0.42202|0.42202	0.813000|0.813000	0.32504|0.32504	0.336000|0.336000	0.28762|0.28762	4.545000|4.545000	0.60698|0.60698	2.176000|2.176000	0.68965|0.68965	0.462000|0.462000	0.41574|0.41574	TGT|GTC		PASS	0.617	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		9	7	9	7	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5988539	5988539	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:5988539C>A	ENST00000399933.3	-	2	599	c.600G>T	c.(598-600)ttG>ttT	p.L200F	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L200F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	200								p.L200F(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTTTTCTCTCAAGTGCCTTG	0.428																																						uc003zjq.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(598-600)TTG>TTT		hypothetical protein LOC158358							84.0	76.0	79.0					9																	5988539		1872	4115	5987	SO:0001583	missense	158358							g.chr9:5988539C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.600G>T	9.37:g.5988539C>A	ENSP00000382815:p.Leu200Phe						p.L200F	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	2	816	-		Acute lymphoblastic leukemia(23;0.158)	200					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.600G>T		.	.	.	.	.	.	.	.	.	.	C	17.86	3.492560	0.64074	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.68	4.68	0.58851	.	0.000000	0.41500	U	0.000867	T	0.66446	0.2790	L	0.48642	1.525	0.36524	D	0.870327	D	0.89917	1.0	D	0.85130	0.997	T	0.72640	-0.4232	9	0.62326	D	0.03	.	8.7366	0.34532	0.0:0.8195:0.0:0.1805	.	200	Q5HYC2	K2026_HUMAN	F	200	.	ENSP00000370870:L200F	L	-	3	2	KIAA2026	5978539	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.909000	0.28558	2.309000	0.77851	0.484000	0.47621	TTG		PASS	0.428	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	37	4	37	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		PASS	0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	1	11	1	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34493264	34493264	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:34493264A>G	ENST00000242317.4	+	9	925	c.754A>G	c.(754-756)Acc>Gcc	p.T252A	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	252					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.T252A(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GAAGGCAAAGACCCCAGTGGC	0.463									Kartagener syndrome																													uc003zum.2																			1	Substitution - Missense(1)		lung(1)		0						c.(754-756)ACC>GCC		dynein, axonemal, intermediate chain 1							113.0	109.0	111.0					9																	34493264		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34493264A>G	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.754A>G	9.37:g.34493264A>G	ENSP00000242317:p.Thr252Ala						p.T252A	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	9	947	+	all_epithelial(49;0.244)		252					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.754A>G	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	A	3.967	-0.009115	0.07727	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.32753	1.44;1.44	5.36	4.23	0.50019	.	0.769944	0.12243	N	0.486312	T	0.11922	0.0290	N	0.05199	-0.095	0.20074	N	0.999934	B	0.02656	0.0	B	0.04013	0.001	T	0.34775	-0.9815	10	0.07482	T	0.82	.	4.828	0.13427	0.839:0.0:0.161:0.0	.	252	Q9UI46	DNAI1_HUMAN	A	241;252;241	ENSP00000242317:T252A;ENSP00000395396:T241A	ENSP00000242317:T252A	T	+	1	0	DNAI1	34483264	0.000000	0.05858	0.992000	0.48379	0.888000	0.51559	0.664000	0.25068	2.040000	0.60383	0.460000	0.39030	ACC		PASS	0.463	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			5	79	5	79	---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289409	107289409	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:107289409A>C	ENST00000277216.3	-	1	81	c.82T>G	c.(82-84)Ttt>Gtt	p.F28V		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28V(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCAGAGCAAAGAAAATGATC	0.413																																						uc011lvn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)TTT>GTT		olfactory receptor, family 13, subfamily C,							95.0	89.0	91.0					9																	107289409		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289409A>C		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.82T>G	9.37:g.107289409A>C	ENSP00000277216:p.Phe28Val						p.F28V	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	82	-			28			Helical; Name=1; (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.82T>G	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.838662	0.51057	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.04551	3.6	4.45	4.45	0.53987	.	0.296375	0.24282	U	0.039898	T	0.16128	0.0388	M	0.87682	2.9	0.09310	N	1	D	0.56746	0.977	P	0.51415	0.669	T	0.08472	-1.0720	10	0.87932	D	0	.	11.98	0.53115	1.0:0.0:0.0:0.0	.	28	Q8NGS5	O13C4_HUMAN	V	28;57	ENSP00000277216:F28V	ENSP00000277216:F28V	F	-	1	0	OR13C4	106329230	0.724000	0.28038	0.152000	0.22495	0.976000	0.68499	5.474000	0.66781	1.982000	0.57802	0.482000	0.46254	TTT		PASS	0.413	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			33	57	33	57	---	---	---	---
C5	727	broad.mit.edu	37	9	123780009	123780009	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:123780009T>C	ENST00000223642.1	-	13	1657	c.1628A>G	c.(1627-1629)tAt>tGt	p.Y543C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	543					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Y543C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GACGATGTAATAGACCAGAAG	0.408																																						uc004bkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1627-1629)TAT>TGT		complement component 5 preproprotein	Eculizumab(DB01257)						117.0	112.0	114.0					9																	123780009		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123780009T>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1628A>G	9.37:g.123780009T>C	ENSP00000223642:p.Tyr543Cys					C5_uc010mvm.1_Missense_Mutation_p.Y543C|C5_uc010mvn.1_Missense_Mutation_p.Y543C	p.Y543C	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	13	1658	-			543					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.1628A>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658359	0.67586	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.69040	-0.37	6.03	6.03	0.97812	Alpha-2-macroglobulin, N-terminal 2 (1);	0.055265	0.85682	D	0.000000	D	0.85600	0.5734	M	0.91972	3.26	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88706	0.3219	10	0.87932	D	0	.	15.7467	0.77949	0.0:0.0:0.0:1.0	.	614;543	Q59GS8;P01031	.;CO5_HUMAN	C	543;614	ENSP00000223642:Y543C	ENSP00000223642:Y543C	Y	-	2	0	C5	122819830	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.732000	0.62029	2.302000	0.77476	0.533000	0.62120	TAT		PASS	0.408	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		25	59	25	59	---	---	---	---
FUT7	2529	broad.mit.edu	37	9	139925444	139925444	+	Silent	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:139925444G>T	ENST00000314412.6	-	2	1765	c.747C>A	c.(745-747)ggC>ggA	p.G249G	C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_5'Flank|ABCA2_ENST00000371605.3_5'Flank|ABCA2_ENST00000265662.5_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	249					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.G249G(1)		NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CTGGCACAGTGCCAGCCACCA	0.622																																						uc004ckq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(745-747)GGC>GGA		fucosyltransferase 7							72.0	87.0	82.0					9																	139925444		2203	4297	6500	SO:0001819	synonymous_variant	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925444G>T	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.747C>A	9.37:g.139925444G>T						ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	p.G249G	NM_004479	NP_004470	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1596	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	249			Lumenal (Potential).		B2R7U7|Q6DK54	Silent	SNP	ENST00000314412.6	37	c.747C>A	CCDS7022.1																																																																																				PASS	0.622	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		41	63	41	63	---	---	---	---
AKR1E2	83592	broad.mit.edu	37	10	4884670	4884670	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr10:4884670C>A	ENST00000298375.7	+	8	882	c.811C>A	c.(811-813)Cca>Aca	p.P271T	AKR1E2_ENST00000532248.1_Missense_Mutation_p.P214T|AKR1E2_ENST00000334019.4_Missense_Mutation_p.P214T|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.P173T	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	271						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.P271T(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATCTATCACCCCAAGTCACAT	0.413																																					NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)CCA>ACA		aldo-keto reductase family 1, member E2							153.0	153.0	153.0					10																	4884670		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4884670C>A	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.811C>A	10.37:g.4884670C>A	ENSP00000298375:p.Pro271Thr					AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.P175T|AKR1E2_uc001ihh.1_Missense_Mutation_p.P214T|AKR1E2_uc009xhw.2_Missense_Mutation_p.P173T|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.P214T	p.P271T	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			8	926	+			271			NADP (By similarity).		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.811C>A	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	C	7.332	0.619035	0.14129	.	.	ENSG00000165568	ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253;ENST00000487985	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.0	1.89	0.25635	NADP-dependent oxidoreductase domain (3);	0.059635	0.64402	D	0.000002	T	0.42108	0.1188	M	0.82433	2.59	0.09310	N	1	P;D;P;P;B	0.71674	0.587;0.998;0.817;0.455;0.314	B;D;P;P;B	0.74023	0.196;0.982;0.596;0.461;0.177	T	0.09975	-1.0650	10	0.72032	D	0.01	.	6.3023	0.21119	0.2117:0.5827:0.2056:0.0	.	175;173;214;271;214	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	T	271;214;214;173;53	ENSP00000298375:P271T;ENSP00000432947:P214T;ENSP00000335034:P214T;ENSP00000335603:P173T	ENSP00000298375:P271T	P	+	1	0	AKR1E2	4874670	0.450000	0.25697	0.004000	0.12327	0.132000	0.20833	3.402000	0.52608	1.016000	0.39470	0.313000	0.20887	CCA		PASS	0.413	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		33	71	33	71	---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17949583	17949583	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr10:17949583C>A	ENST00000331429.2	+	28	4050	c.3947C>A	c.(3946-3948)tCc>tAc	p.S1316Y															p.S1316Y(1)|p.S1316C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTCCGGTCTCCTTTGTCAAC	0.403																																						uc001ipk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3946-3948)TCC>TAC		mannose receptor C type 1 precursor							56.0	58.0	57.0					10																	17949583		2177	4258	6435	SO:0001583	missense	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:17949583C>A																												ENST00000331429.2:c.3947C>A	10.37:g.17949583C>A	ENSP00000332124:p.Ser1316Tyr						p.S1316Y	NM_002438	NP_002429	P22897	MRC1_HUMAN			28	4050	+			1316			Extracellular (Potential).|C-type lectin 8.			Missense_Mutation	SNP	ENST00000331429.2	37	c.3947C>A		.	.	.	.	.	.	.	.	.	.	.	12.15	1.850581	0.32699	.	.	ENSG00000183748	ENST00000331429	T	0.19105	2.17	4.04	4.04	0.47022	.	0.706038	0.11866	U	0.521918	T	0.42223	0.1193	.	.	.	0.31728	N	0.637393	D	0.76494	0.999	D	0.71870	0.975	T	0.52094	-0.8621	8	0.62326	D	0.03	-18.712	9.8365	0.40973	0.3676:0.6324:0.0:0.0	.	1316	B9EJA8	.	Y	1316	ENSP00000332124:S1316Y	ENSP00000332124:S1316Y	S	+	2	0	AL928580.1	17989589	1.000000	0.71417	0.985000	0.45067	0.154000	0.21943	4.463000	0.60128	2.086000	0.62901	0.508000	0.49915	TCC		PASS	0.403	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			9	48	9	48	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50691393	50691393	+	Splice_Site	SNP	T	T	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr10:50691393T>A	ENST00000355832.5	-	9	2069	c.1991A>T	c.(1990-1992)cAg>cTg	p.Q664L	ERCC6_ENST00000542458.1_Splice_Site_p.Q34L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	664	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.Q664L(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGTCATACCTGTTTGCAAGC	0.378								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(1990-1992)CAG>CTG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							130.0	114.0	120.0					10																	50691393		2203	4300	6503	SO:0001630	splice_region_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50691393T>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1992+1A>T	10.37:g.50691393T>A						ERCC6_uc010qgr.1_Missense_Mutation_p.Q34L|ERCC6_uc001jhr.3_Missense_Mutation_p.Q64L	p.Q664L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			9	2145	-			664			Helicase ATP-binding.		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.1991A>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152087	0.78001	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.93189	-3.18;-3.18	5.33	5.33	0.75918	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.93657	0.7974	L	0.53617	1.68	0.80722	D	1	P;B	0.49635	0.926;0.417	P;P	0.50934	0.654;0.542	D	0.94043	0.7311	9	0.59425	D	0.04	-21.1982	15.5831	0.76462	0.0:0.0:0.0:1.0	.	664;73	Q03468;Q59FF6	ERCC6_HUMAN;.	L	664;73;34	ENSP00000348089:Q664L;ENSP00000445134:Q34L	ENSP00000348089:Q664L	Q	-	2	0	ERCC6	50361399	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	2.122000	0.65172	0.528000	0.53228	CAG		PASS	0.378	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	Missense_Mutation	26	11	26	11	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108536394	108536394	+	Silent	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr10:108536394T>C	ENST00000263054.6	-	4	790	c.783A>G	c.(781-783)gaA>gaG	p.E261E	SORCS1_ENST00000344440.6_Silent_p.E261E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	261					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E261E(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)		AAGTTGCCCCTTCATCTGAGC	0.403																																						uc001kym.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(781-783)GAA>GAG		SORCS receptor 1 isoform a							138.0	129.0	132.0					10																	108536394		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108536394T>C	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.783A>G	10.37:g.108536394T>C						SORCS1_uc001kyl.2_Silent_p.E261E|SORCS1_uc009xxs.2_Silent_p.E261E|SORCS1_uc001kyn.1_Silent_p.E261E|SORCS1_uc001kyo.2_Silent_p.E261E	p.E261E	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	4	791	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	261			Lumenal (Potential).|BNR 2.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.783A>G	CCDS7559.1																																																																																				PASS	0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		26	18	26	18	---	---	---	---
FAM204A	63877	broad.mit.edu	37	10	120095118	120095118	+	Silent	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr10:120095118C>T	ENST00000369183.4	-	4	529	c.270G>A	c.(268-270)caG>caA	p.Q90Q	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Silent_p.Q90Q	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	90								p.Q90Q(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						TTGTGCTTTTCTGTTCAGAAT	0.313																																						uc001ldo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)CAG>CAA		hypothetical protein LOC63877							93.0	85.0	88.0					10																	120095118		2201	4299	6500	SO:0001819	synonymous_variant	63877							g.chr10:120095118C>T	AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.270G>A	10.37:g.120095118C>T						C10orf84_uc010qss.1_Silent_p.Q90Q	p.Q90Q	NM_022063	NP_071346	Q9H8W3	F204A_HUMAN		all cancers(201;0.0244)	4	537	-		Colorectal(252;0.101)	90					D3DRC6|Q5T373|Q9H5V5	Silent	SNP	ENST00000369183.4	37	c.270G>A	CCDS7605.1																																																																																				PASS	0.313	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063		13	6	13	6	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127429673	127429673	+	Silent	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr10:127429673T>C	ENST00000356792.4	+	17	2506	c.2274T>C	c.(2272-2274)aaT>aaC	p.N758N	C10orf137_ENST00000337623.3_Silent_p.N724N	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N724N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGCCCAGAATGCAAATAATA	0.438																																						uc001liq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(2272-2274)AAT>AAC		erythroid differentiation-related factor 1							150.0	144.0	146.0					10																	127429673		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127429673T>C																												ENST00000356792.4:c.2274T>C	10.37:g.127429673T>C						C10orf137_uc001lin.2_Silent_p.N724N|C10orf137_uc001lio.1_Silent_p.N724N|C10orf137_uc001lip.1_Silent_p.N462N|C10orf137_uc001lir.2_Silent_p.N252N|C10orf137_uc001lis.1_Silent_p.N84N	p.N758N	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			17	2567	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	758					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.2274T>C	CCDS55733.1																																																																																				PASS	0.438	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			42	24	42	24	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134898363	134898363	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr10:134898363C>A	ENST00000607359.1	+	8	1425	c.1425C>A	c.(1423-1425)ctC>ctA	p.L475L	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L475L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGCTGAGCCTCCCTGAGGAGG	0.647																																						uc001llw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1423-1425)CTC>CTA		RecName: Full=Probable G-protein coupled receptor 123;							39.0	45.0	43.0					10																	134898363		1568	3582	5150	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134898363C>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1425C>A	10.37:g.134898363C>A							p.L475L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	8	1425	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000607359.1	37	c.1425C>A																																																																																					PASS	0.647	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			4	27	4	27	---	---	---	---
LRRC56	115399	broad.mit.edu	37	11	551689	551689	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:551689G>T	ENST00000270115.7	+	10	1335	c.835G>T	c.(835-837)Gag>Tag	p.E279*		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	279								p.E279*(1)		kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTTGACCCCGAGCTGTCCCT	0.687																																						uc010qvz.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(835-837)GAG>TAG		leucine rich repeat containing 56							30.0	35.0	33.0					11																	551689		2199	4300	6499	SO:0001587	stop_gained	115399							g.chr11:551689G>T		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.835G>T	11.37:g.551689G>T	ENSP00000270115:p.Glu279*						p.E279*	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1340	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	279					Q8N3Q4	Nonsense_Mutation	SNP	ENST00000270115.7	37	c.835G>T	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	38	7.005383	0.97998	.	.	ENSG00000161328	ENST00000270115	.	.	.	4.14	0.29	0.15728	.	1.033410	0.07726	N	0.944530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-4.3689	3.148	0.06478	0.3698:0.2169:0.4133:0.0	.	.	.	.	X	279	.	ENSP00000270115:E279X	E	+	1	0	LRRC56	541689	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.735000	0.04888	0.110000	0.17919	0.561000	0.74099	GAG		PASS	0.687	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		3	16	3	16	---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	686886	686886	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:686886G>A	ENST00000382409.3	-	5	1260	c.776C>T	c.(775-777)gCg>gTg	p.A259V	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	259	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A259V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGGTCGGCCCGCGTAGCGAAT	0.607																																						uc001lqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)GCG>GTG		deformed epidermal autoregulatory factor 1							240.0	170.0	194.0					11																	686886		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:686886G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.776C>T	11.37:g.686886G>A	ENSP00000371846:p.Ala259Val					DEAF1_uc009ycf.1_RNA	p.A259V	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	5	1469	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	259			SAND.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.776C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592357	0.86953	.	.	ENSG00000177030	ENST00000382409;ENST00000359958;ENST00000388804	T	0.63913	-0.07	5.05	5.05	0.67936	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	L	0.54323	1.7	0.80722	D	1	D	0.64830	0.994	P	0.60012	0.867	T	0.74191	-0.3745	10	0.72032	D	0.01	-27.7983	13.9159	0.63897	0.0:0.1537:0.8463:0.0	.	259	O75398	DEAF1_HUMAN	V	259;245;182	ENSP00000371846:A259V	ENSP00000353043:A245V	A	-	2	0	DEAF1	676886	1.000000	0.71417	0.889000	0.34880	0.781000	0.44180	7.610000	0.82949	2.497000	0.84241	0.643000	0.83706	GCG		PASS	0.607	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		9	13	9	13	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1093575	1093575	+	Silent	SNP	G	G	C	rs201450769		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:1093575G>C	ENST00000441003.2	+	30	5421	c.5394G>C	c.(5392-5394)acG>acC	p.T1798T	MUC2_ENST00000333592.6_Silent_p.T86T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1754T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					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.T1798T(1)|p.T1754T(1)		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)	ccacaactacGGTGACCGCAA	0.582																																						uc001lsx.1																			2	Substitution - coding silent(2)		lung(2)	lung(1)|breast(1)	2						c.(12478-12480)ACG>ACC		mucin 2 precursor	Pranlukast(DB01411)						92.0	124.0	113.0					11																	1093575		2192	4266	6458	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093575G>C	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.5394G>C	11.37:g.1093575G>C							p.T4160T	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)	31	12507	+		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)	4160					Q14878	Silent	SNP	ENST00000441003.2	37	c.12480G>C																																																																																					PASS	0.582	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	14	3	14	---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6291936	6291936	+	Silent	SNP	C	C	T	rs555393734		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:6291936C>T	ENST00000334619.2	+	4	907	c.714C>T	c.(712-714)taC>taT	p.Y238Y	CCKBR_ENST00000532715.1_Silent_p.Y154Y|CCKBR_ENST00000525462.1_Silent_p.Y238Y	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	238					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.Y238Y(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCGTGGCCTACGGGCTTATCT	0.582																																						uc001mcp.2																			2	Substitution - coding silent(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(712-714)TAC>TAT		cholecystokinin B receptor	Pentagastrin(DB00183)						182.0	129.0	147.0					11																	6291936		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291936C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.714C>T	11.37:g.6291936C>T						CCKBR_uc001mcq.2_Silent_p.Y166Y|CCKBR_uc001mcr.2_Silent_p.Y238Y|CCKBR_uc001mcs.2_Silent_p.Y238Y|CCKBR_uc001mct.1_5'Flank	p.Y238Y	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	907	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	238			Helical; Name=5; (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.714C>T	CCDS7761.1																																																																																				PASS	0.582	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		9	31	9	31	---	---	---	---
OR2AG1	144125	broad.mit.edu	37	11	6806970	6806970	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:6806970G>A	ENST00000307401.4	+	1	723	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGGGGAGGAAGAAAGCCC	0.498																																						uc001mer.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(700-702)AGG>AGA		olfactory receptor, family 2, subfamily AG,							196.0	171.0	179.0					11																	6806970		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806970G>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.702G>A	11.37:g.6806970G>A							p.R234R	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	702	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	234			Cytoplasmic (Potential).		B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.702G>A	CCDS31414.1																																																																																				PASS	0.498	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		27	19	27	19	---	---	---	---
NRIP3	56675	broad.mit.edu	37	11	9005648	9005648	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:9005648G>C	ENST00000309166.3	-	5	699	c.586C>G	c.(586-588)Ctt>Gtt	p.L196V	NRIP3_ENST00000531090.1_3'UTR	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	196							aspartic-type endopeptidase activity (GO:0004190)	p.L196V(1)		large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TGTAGACCAAGGGACAAGTTT	0.388																																						uc001mhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CTT>GTT		nuclear receptor interacting protein 3							152.0	152.0	152.0					11																	9005648		2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9005648G>C	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.586C>G	11.37:g.9005648G>C	ENSP00000310205:p.Leu196Val					NRIP3_uc010rbu.1_3'UTR	p.L196V	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	5	700	-			196					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.586C>G	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582556	0.65992	.	.	ENSG00000175352	ENST00000309166;ENST00000531142	T	0.51325	0.71	5.8	5.8	0.92144	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.137618	0.49916	D	0.000140	T	0.54663	0.1872	M	0.72118	2.19	0.80722	D	1	P	0.34955	0.477	B	0.37888	0.26	T	0.57877	-0.7735	10	0.66056	D	0.02	.	18.8788	0.92349	0.0:0.0:1.0:0.0	.	196	Q9NQ35	NRIP3_HUMAN	V	196;24	ENSP00000310205:L196V	ENSP00000310205:L196V	L	-	1	0	NRIP3	8962224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.917000	0.56424	2.770000	0.95276	0.579000	0.79373	CTT		PASS	0.388	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		58	43	58	43	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17428178	17428178	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:17428178G>T	ENST00000389817.3	-	26	3388	c.3320C>A	c.(3319-3321)gCc>gAc	p.A1107D	ABCC8_ENST00000302539.4_Missense_Mutation_p.A1108D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1107	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|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 ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.A1107D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCTCATGGGGGCTAGGATGAT	0.562																																						uc001mnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3319-3321)GCC>GAC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						92.0	74.0	80.0					11																	17428178		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428178G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3320C>A	11.37:g.17428178G>T	ENSP00000374467:p.Ala1107Asp						p.A1107D	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3446	-			1107			Cytoplasmic (By similarity).|ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3320C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179796	0.94846	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90504	-2.68;-2.68	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	H	0.97635	4.045	0.80722	D	1	P	0.42973	0.796	P	0.58928	0.848	D	0.97445	1.0024	10	0.66056	D	0.02	.	20.136	0.98031	0.0:0.0:1.0:0.0	.	1107	Q09428	ABCC8_HUMAN	D	1107;1108	ENSP00000374467:A1107D;ENSP00000303960:A1108D	ENSP00000303960:A1108D	A	-	2	0	ABCC8	17384754	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.766000	0.98957	2.756000	0.94617	0.655000	0.94253	GCC		PASS	0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		9	4	9	4	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20005751	20005751	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:20005751C>T	ENST00000396087.3	+	12	2894	c.2795C>T	c.(2794-2796)aCc>aTc	p.T932I	NAV2-AS3_ENST00000534036.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.T909I|NAV2_ENST00000396085.1_Missense_Mutation_p.T909I|NAV2_ENST00000527559.2_Missense_Mutation_p.T861I|NAV2_ENST00000360655.4_Missense_Mutation_p.T845I|NAV2_ENST00000540292.1_Missense_Mutation_p.T863I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	932					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.T932I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTACGGGAGACCCTGCAACGA	0.572																																						uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(2794-2796)ACC>ATC		neuron navigator 2 isoform 2							124.0	112.0	116.0					11																	20005751		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20005751C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2795C>T	11.37:g.20005751C>T	ENSP00000379396:p.Thr932Ile					NAV2_uc001mpp.2_Missense_Mutation_p.T845I|NAV2_uc001mpr.3_Missense_Mutation_p.T909I	p.T932I	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			12	3156	+			932					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2795C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148049	0.78001	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28666	1.6;1.72;1.72;1.71;1.61;1.61	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.33673	0.0871	L	0.29908	0.895	0.80722	D	1	B;P	0.49635	0.036;0.926	B;P	0.49085	0.061;0.6	T	0.01010	-1.1482	9	.	.	.	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	909;845	Q8IVL1-3;Q8IVL1-4	.;.	I	845;909;909;932;861;863	ENSP00000353871:T845I;ENSP00000379394:T909I;ENSP00000309577:T909I;ENSP00000379396:T932I;ENSP00000435395:T861I;ENSP00000443489:T863I	.	T	+	2	0	NAV2	19962327	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.994000	0.63901	2.824000	0.97209	0.655000	0.94253	ACC		PASS	0.572	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		27	14	27	14	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26725099	26725099	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:26725099T>A	ENST00000396005.3	-	6	1109	c.800A>T	c.(799-801)aAa>aTa	p.K267I	SLC5A12_ENST00000280467.6_Missense_Mutation_p.K267I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	267					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.K267I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTTTTCTGTTTTGCAAGAGAT	0.358																																						uc001mra.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(799-801)AAA>ATA		solute carrier family 5 (sodium/glucose							120.0	116.0	117.0					11																	26725099		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725099T>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.800A>T	11.37:g.26725099T>A	ENSP00000379326:p.Lys267Ile					SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.K267I	p.K267I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			6	1113	-			267			Cytoplasmic (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.800A>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372445	0.82573	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.90676	-2.71;-2.71;-2.71	5.51	4.36	0.52297	.	0.240311	0.39210	N	0.001424	D	0.95906	0.8667	M	0.92268	3.29	0.50632	D	0.999889	P;D	0.76494	0.816;0.999	P;D	0.76575	0.866;0.988	D	0.95724	0.8769	10	0.72032	D	0.01	.	11.479	0.50314	0.0:0.0714:0.0:0.9286	.	267;267	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	I	267;267;79	ENSP00000379326:K267I;ENSP00000280467:K267I;ENSP00000435053:K79I	ENSP00000280467:K267I	K	-	2	0	SLC5A12	26681675	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.489000	0.53237	0.906000	0.36621	0.477000	0.44152	AAA		PASS	0.358	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		38	22	38	22	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258265	56258265	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:56258265C>A	ENST00000327216.2	-	1	606	c.582G>T	c.(580-582)aaG>aaT	p.K194N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K194N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGACAACTCCTTGTTGTAGG	0.418																																						uc001nix.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(580-582)AAG>AAT		olfactory receptor, family 5, subfamily M,							83.0	84.0	84.0					11																	56258265		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258265C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.582G>T	11.37:g.56258265C>A	ENSP00000323354:p.Lys194Asn						p.K194N	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	582	-	Esophageal squamous(21;0.00352)		194			Extracellular (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.582G>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	5.250	0.231550	0.09969	.	.	ENSG00000181371	ENST00000327216	T	0.00027	8.93	4.35	-4.56	0.03431	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000675	T	0.00073	0.0002	N	0.01086	-1.025	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55509	-0.8130	10	0.02654	T	1	-19.9607	11.1677	0.48552	0.0:0.501:0.0:0.499	.	194	Q8NGP6	OR5M8_HUMAN	N	194	ENSP00000323354:K194N	ENSP00000323354:K194N	K	-	3	2	OR5M8	56014841	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.136000	0.01305	-1.211000	0.02624	-0.843000	0.03049	AAG		PASS	0.418	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		20	82	20	82	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468292	56468292	+	Silent	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:56468292G>T	ENST00000312153.1	+	1	429	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L143L(2)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GTGCATTGCTGGTAGCAGTCT	0.468																																						uc010rjn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(427-429)CTG>CTT		olfactory receptor, family 9, subfamily G,							208.0	193.0	198.0					11																	56468292		2201	4296	6497	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468292G>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.429G>T	11.37:g.56468292G>T							p.L143L	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	429	+			143			Helical; Name=4; (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.429G>T	CCDS31536.1																																																																																				PASS	0.468	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		6	162	6	162	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468738	56468738	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:56468738G>A	ENST00000312153.1	+	1	875	c.875G>A	c.(874-876)aGg>aAg	p.R292K		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R292K(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TACAGCCTAAGGAATAAGGAT	0.393																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(874-876)AGG>AAG		olfactory receptor, family 9, subfamily G,							103.0	110.0	108.0					11																	56468738		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468738G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.875G>A	11.37:g.56468738G>A	ENSP00000309012:p.Arg292Lys						p.R292K	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	875	+			292			Cytoplasmic (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.875G>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103103	0.76983	.	.	ENSG00000174914	ENST00000312153	T	0.39997	1.05	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000010	T	0.70378	0.3217	M	0.88775	2.98	0.32408	N	0.551087	D	0.76494	0.999	D	0.85130	0.997	T	0.79383	-0.1826	10	0.56958	D	0.05	-14.3396	17.5976	0.88016	0.0:0.0:1.0:0.0	.	292	Q8NH87	OR9G1_HUMAN	K	292	ENSP00000309012:R292K	ENSP00000309012:R292K	R	+	2	0	OR9G1	56225314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.094000	0.64523	2.528000	0.85240	0.637000	0.83480	AGG		PASS	0.393	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		9	89	9	89	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59622223	59622223	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:59622223T>A	ENST00000257264.3	-	7	1127	c.1023A>T	c.(1021-1023)agA>agT	p.R341S	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	341	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.R341S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCATTGATTCTCACAGAGT	0.408																																						uc001noj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1021-1023)AGA>AGT		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						145.0	135.0	139.0					11																	59622223		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59622223T>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1023A>T	11.37:g.59622223T>A	ENSP00000257264:p.Arg341Ser						p.R341S	NM_001062	NP_001053	P20061	TCO1_HUMAN			7	1121	-		all_epithelial(135;0.198)	341					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1023A>T	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597934	0.28445	.	.	ENSG00000134827	ENST00000257264	T	0.37058	1.22	5.28	-2.25	0.06888	.	3.729730	0.00972	N	0.003247	T	0.20210	0.0486	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.07751	-1.0756	10	0.09843	T	0.71	.	3.1022	0.06330	0.3362:0.3417:0.0:0.3222	.	341	P20061	TCO1_HUMAN	S	341	ENSP00000257264:R341S	ENSP00000257264:R341S	R	-	3	2	TCN1	59378799	0.001000	0.12720	0.010000	0.14722	0.311000	0.27955	0.273000	0.18662	0.014000	0.14944	-0.262000	0.10625	AGA		PASS	0.408	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		13	54	13	54	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62397403	62397403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:62397403C>T	ENST00000356638.3	-	14	1636	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*	GANAB_ENST00000346178.4_Nonsense_Mutation_p.W562*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.W448*|GANAB_ENST00000540933.1_Nonsense_Mutation_p.W443*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	540					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.W540*(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCATGTCATTCCAGACAAAGA	0.532																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1618-1620)TGG>TGA		neutral alpha-glucosidase AB isoform 2							97.0	85.0	89.0					11																	62397403		2202	4299	6501	SO:0001587	stop_gained	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397403C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1620G>A	11.37:g.62397403C>T	ENSP00000349053:p.Trp540*					GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Nonsense_Mutation_p.W562*|GANAB_uc001nuc.2_Nonsense_Mutation_p.W443*|GANAB_uc010rma.1_Nonsense_Mutation_p.W448*|GANAB_uc010rmb.1_Nonsense_Mutation_p.W426*	p.W540*	NM_198334	NP_938148	Q14697	GANAB_HUMAN			14	1653	-			540					A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	ENST00000356638.3	37	c.1620G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328211	0.97476	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0016	15.8282	0.78730	0.0:1.0:0.0:0.0	.	.	.	.	X	562;540;448;443	.	ENSP00000340466:W562X	W	-	3	0	GANAB	62153979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.612000	0.82975	2.612000	0.88384	0.655000	0.94253	TGG		PASS	0.532	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		20	64	20	64	---	---	---	---
RAB30	27314	broad.mit.edu	37	11	82708291	82708291	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:82708291G>A	ENST00000533486.1	-	3	352	c.68C>T	c.(67-69)aCg>aTg	p.T23M	RAB30_ENST00000532548.1_Missense_Mutation_p.T23M|RAB30_ENST00000534141.1_Missense_Mutation_p.T23M|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Missense_Mutation_p.T23M|RAB30_ENST00000260056.2_Missense_Mutation_p.T23M|RAB30_ENST00000525117.1_Missense_Mutation_p.T23M	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	23					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T23M(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GACGAGGCACGTCTTCCCCAC	0.478																																						uc001ozu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)ACG>ATG		RAB30, member RAS oncogene family							116.0	99.0	105.0					11																	82708291		2203	4300	6503	SO:0001583	missense	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82708291G>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.68C>T	11.37:g.82708291G>A	ENSP00000435189:p.Thr23Met					RAB30_uc009yve.2_Missense_Mutation_p.T21M|RAB30_uc010rst.1_Missense_Mutation_p.T21M|RAB30_uc001ozv.2_Missense_Mutation_p.T21M|RAB30_uc009yvg.1_Missense_Mutation_p.T21M	p.T23M	NM_014488	NP_055303	Q15771	RAB30_HUMAN			3	329	-			23			GTP (By similarity).		Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	ENST00000533486.1	37	c.68C>T	CCDS8264.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203723	0.95033	.	.	ENSG00000137502	ENST00000533486;ENST00000534141;ENST00000260056;ENST00000527633;ENST00000531021;ENST00000534301;ENST00000525117;ENST00000532548;ENST00000526205;ENST00000534103;ENST00000530224;ENST00000533276;ENST00000528379	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.8	5.8	0.92144	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.97924	1.0316	9	.	.	.	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	23;23;23	E9PLM3;Q6MZH2;Q15771	.;.;RAB30_HUMAN	M	23	ENSP00000435189:T23M;ENSP00000434974:T23M;ENSP00000260056:T23M;ENSP00000435089:T23M;ENSP00000434953:T23M;ENSP00000432193:T23M;ENSP00000433243:T23M;ENSP00000437235:T23M;ENSP00000432336:T23M;ENSP00000435542:T23M;ENSP00000436282:T23M;ENSP00000434528:T23M;ENSP00000434106:T23M	.	T	-	2	0	RAB30	82385939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.797000	0.99108	2.755000	0.94549	0.655000	0.94253	ACG		PASS	0.478	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		8	44	8	44	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85447586	85447586	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:85447586A>T	ENST00000528231.1	-	5	818	c.541T>A	c.(541-543)Tca>Aca	p.S181T	SYTL2_ENST00000524452.1_Missense_Mutation_p.S181T|SYTL2_ENST00000527523.1_Missense_Mutation_p.S133T|SYTL2_ENST00000389960.4_Missense_Mutation_p.S181T|SYTL2_ENST00000316356.4_Missense_Mutation_p.S182T	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	181					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S182T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCATTTTTTGACTGTTCATTT	0.323																																						uc010rth.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(541-543)TCA>ACA		synaptotagmin-like 2 isoform g							128.0	125.0	126.0					11																	85447586		2203	4298	6501	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85447586A>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.541T>A	11.37:g.85447586A>T	ENSP00000431701:p.Ser181Thr					SYTL2_uc010rtg.1_Missense_Mutation_p.S182T|SYTL2_uc010rti.1_Missense_Mutation_p.S181T|SYTL2_uc010rtj.1_Missense_Mutation_p.S133T|SYTL2_uc001pbf.3_Missense_Mutation_p.S181T|SYTL2_uc010rtf.1_Missense_Mutation_p.S39T	p.S181T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	5	817	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	181					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.541T>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682626	0.29872	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.28666	1.71;1.75;1.73;1.6;1.71	5.93	3.61	0.41365	.	.	.	.	.	T	0.39253	0.1071	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.59357	0.981;0.981;0.985;0.962;0.981	P;P;P;P;P	0.56278	0.652;0.652;0.661;0.501;0.795	T	0.12502	-1.0545	8	.	.	.	.	5.5645	0.17163	0.7049:0.1466:0.1485:0.0	.	133;181;181;182;39	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	T	181;182;181;133;181	ENSP00000374610:S181T;ENSP00000318803:S182T;ENSP00000431701:S181T;ENSP00000434010:S133T;ENSP00000435238:S181T	.	S	-	1	0	SYTL2	85125234	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	2.154000	0.42291	0.495000	0.27882	-0.313000	0.08912	TCA		PASS	0.323	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		6	22	6	22	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116729359	116729359	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:116729359T>C	ENST00000292055.4	-	20	2539	c.2504A>G	c.(2503-2505)cAt>cGt	p.H835R	SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.H893R|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	835	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.H941R(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CGAAAACAGATGGGGGTGTAA	0.547																																						uc001ppy.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2503-2505)CAT>CGT		serine/threonine-protein kinase QSK							78.0	80.0	79.0					11																	116729359		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729359T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2504A>G	11.37:g.116729359T>C	ENSP00000292055:p.His835Arg					SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Missense_Mutation_p.H138R	p.H835R	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			20	2540	-			835			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2504A>G	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333891	0.60853	.	.	ENSG00000160584	ENST00000375300;ENST00000292055	T;T	0.72167	-0.6;-0.63	5.67	5.67	0.87782	.	0.173264	0.27012	U	0.021369	T	0.59142	0.2172	N	0.24115	0.695	0.80722	D	1	B;B	0.32753	0.383;0.124	B;B	0.29785	0.107;0.05	T	0.63413	-0.6643	10	0.87932	D	0	.	15.9123	0.79482	0.0:0.0:0.0:1.0	.	835;835	Q9Y2K2-3;Q9Y2K2	.;SIK3_HUMAN	R	893;835	ENSP00000364449:H893R;ENSP00000292055:H835R	ENSP00000292055:H835R	H	-	2	0	SIK3	116234569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.020000	0.76419	2.144000	0.66660	0.533000	0.62120	CAT		PASS	0.547	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		52	59	52	59	---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6440025	6440025	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:6440025C>T	ENST00000162749.2	-	6	918	c.619G>A	c.(619-621)Gac>Aac	p.D207N	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.D164N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	207					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.D207N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCACCTGAGTCCTCAGTGCCC	0.557																																						uc001qnu.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(619-621)GAC>AAC		tumor necrosis factor receptor 1 precursor							97.0	79.0	85.0					12																	6440025		2203	4300	6503	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6440025C>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.619G>A	12.37:g.6440025C>T	ENSP00000162749:p.Asp207Asn					TNFRSF1A_uc001qnt.2_Missense_Mutation_p.D99N|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Missense_Mutation_p.D99N|TNFRSF1A_uc009zek.2_Missense_Mutation_p.D164N	p.D207N	NM_001065	NP_001056	P19438	TNR1A_HUMAN			6	900	-			207			Extracellular (Potential).		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.619G>A	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314039	0.60414	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372	D;D;D	0.95554	-3.06;-3.1;-3.74	5.19	4.31	0.51392	.	0.498071	0.15264	N	0.271620	D	0.96445	0.8840	M	0.65498	2.005	0.37997	D	0.934104	D;P	0.89917	1.0;0.894	D;B	0.76575	0.988;0.437	D	0.94301	0.7537	10	0.17369	T	0.5	-28.7507	9.7602	0.40528	0.0:0.9049:0.0:0.0951	.	164;207	F5H061;P19438	.;TNR1A_HUMAN	N	207;164;207	ENSP00000162749:D207N;ENSP00000438343:D164N;ENSP00000442059:D207N	ENSP00000162749:D207N	D	-	1	0	TNFRSF1A	6310286	0.629000	0.27146	0.143000	0.22291	0.009000	0.06853	1.332000	0.33805	1.195000	0.43115	-0.258000	0.10820	GAC		PASS	0.557	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		12	57	12	57	---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6440077	6440077	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:6440077C>A	ENST00000162749.2	-	6	866	c.567G>T	c.(565-567)ctG>ctT	p.L189L	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.L146L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	189					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.L189L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCGTGCACTCCAGGCTTTTCT	0.512																																						uc001qnu.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)	3						c.(565-567)CTG>CTT		tumor necrosis factor receptor 1 precursor							72.0	63.0	66.0					12																	6440077		2203	4300	6503	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6440077C>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.567G>T	12.37:g.6440077C>A						TNFRSF1A_uc001qnt.2_Silent_p.L81L|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Silent_p.L81L|TNFRSF1A_uc009zek.2_Silent_p.L146L	p.L189L	NM_001065	NP_001056	P19438	TNR1A_HUMAN			6	848	-			189			TNFR-Cys 4.|Extracellular (Potential).		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.567G>T	CCDS8542.1																																																																																				PASS	0.512	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		4	45	4	45	---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13208823	13208823	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:13208823C>G	ENST00000197268.8	+	2	496	c.376C>G	c.(376-378)Ccc>Gcc	p.P126A		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	126						integral component of membrane (GO:0016021)		p.P126A(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTTCCTGATCCCCTGTCCTCC	0.577																																						uc001rbi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(376-378)CCC>GCC		hypothetical protein LOC57613							56.0	49.0	51.0					12																	13208823		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208823C>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.376C>G	12.37:g.13208823C>G	ENSP00000197268:p.Pro126Ala					KIAA1467_uc009zhx.1_RNA	p.P126A	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	399	+		Prostate(47;0.184)	126					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.376C>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.573633	0.86542	.	.	ENSG00000084444	ENST00000197268	T	0.24908	1.83	5.33	5.33	0.75918	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.78456	2.415	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.59883	-0.7370	10	0.87932	D	0	-21.4457	19.0711	0.93136	0.0:1.0:0.0:0.0	.	126	A2RU67	K1467_HUMAN	A	126	ENSP00000197268:P126A	ENSP00000197268:P126A	P	+	1	0	KIAA1467	13100090	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.102000	0.71486	2.495000	0.84180	0.598000	0.82781	CCC		PASS	0.577	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		13	33	13	33	---	---	---	---
RASSF8	11228	broad.mit.edu	37	12	26220541	26220541	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:26220541C>T	ENST00000405154.2	+	4	1232	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	RASSF8_ENST00000381352.3_Missense_Mutation_p.R345W|RASSF8_ENST00000542865.1_Missense_Mutation_p.R345W|RASSF8_ENST00000282884.9_Missense_Mutation_p.R345W|RASSF8_ENST00000541490.1_Missense_Mutation_p.R345W	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	345					signal transduction (GO:0007165)			p.R345W(2)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TAAGGAGTTGCGGCAAGTCAA	0.438																																						uc001rgx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1033-1035)CGG>TGG		Ras association (RalGDS/AF-6) domain family							90.0	84.0	86.0					12																	26220541		2203	4300	6503	SO:0001583	missense	11228				signal transduction			g.chr12:26220541C>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.1033C>T	12.37:g.26220541C>T	ENSP00000384491:p.Arg345Trp					RASSF8_uc001rgy.2_Missense_Mutation_p.R345W|RASSF8_uc001rgz.2_Missense_Mutation_p.R345W|RASSF8_uc009zjd.1_Missense_Mutation_p.R345W|RASSF8_uc009zje.1_Missense_Mutation_p.R345W	p.R345W	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			4	1254	+	Colorectal(261;0.0847)		345					A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.1033C>T	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132967	0.77662	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.7	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	M	0.69358	2.11	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.948	D	0.94904	0.8059	10	0.87932	D	0	-28.274	10.9115	0.47112	0.0:0.7993:0.1303:0.0704	.	345;345	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	W	345	ENSP00000370756:R345W;ENSP00000384491:R345W;ENSP00000439839:R345W;ENSP00000443096:R345W;ENSP00000282884:R345W	ENSP00000282884:R345W	R	+	1	2	RASSF8	26111808	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.433000	0.34947	0.839000	0.34971	0.655000	0.94253	CGG		PASS	0.438	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		16	24	16	24	---	---	---	---
KRT18	3875	broad.mit.edu	37	12	53345369	53345369	+	Silent	SNP	C	C	T	rs145578755		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:53345369C>T	ENST00000388835.3	+	4	972	c.762C>T	c.(760-762)gcC>gcT	p.A254A	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Silent_p.A254A|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Silent_p.A254A	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	254	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.A254A(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACATCCGGGCCCAATATGACG	0.587																																						uc001sbe.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(760-762)GCC>GCT		keratin 18		C	,	0,4406		0,0,2203	46.0	50.0	49.0		762,762	-0.4	1.0	12	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KRT18	NM_000224.2,NM_199187.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	254/431,254/431	53345369	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53345369C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.762C>T	12.37:g.53345369C>T						KRT18_uc009zmn.1_Silent_p.A254A|KRT18_uc001sbf.1_Silent_p.A81A|KRT18_uc001sbg.2_Silent_p.A254A|KRT18_uc009zmo.2_Silent_p.A254A|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.A254A	NM_199187	NP_954657	P05783	K1C18_HUMAN			5	831	+			254			Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.762C>T	CCDS31809.1																																																																																				PASS	0.587	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		10	22	10	22	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54115366	54115366	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:54115366C>T	ENST00000550804.1	-	6	703	c.643G>A	c.(643-645)Gag>Aag	p.E215K	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E215K|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E215K|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E182K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	215					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.E215K(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGTCCCTCTCTTCTGTGATC	0.532																																						uc001sef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(643-645)GAG>AAG		coiled-coil transcriptional coactivator isoform							329.0	307.0	315.0					12																	54115366		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115366C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.643G>A	12.37:g.54115366C>T	ENSP00000449960:p.Glu215Lys					CALCOCO1_uc010som.1_Missense_Mutation_p.E182K|CALCOCO1_uc010son.1_Missense_Mutation_p.E92K|CALCOCO1_uc001seh.2_Missense_Mutation_p.E215K|CALCOCO1_uc009znd.2_Missense_Mutation_p.E215K|CALCOCO1_uc001seg.2_Missense_Mutation_p.E92K|CALCOCO1_uc010soo.1_Missense_Mutation_p.E208K	p.E215K	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			6	787	-			215					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.643G>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192492	0.78902	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.0	5.0	0.66597	.	0.000000	0.43110	D	0.000617	T	0.33352	0.0860	L	0.60067	1.865	0.39027	D	0.959858	D;P;P;P;P;P	0.56968	0.978;0.664;0.946;0.802;0.664;0.956	P;B;P;B;B;P	0.54499	0.754;0.283;0.488;0.337;0.373;0.622	T	0.09422	-1.0675	10	0.54805	T	0.06	-21.3943	12.0394	0.53444	0.0:0.826:0.174:0.0	.	208;182;215;215;182;215	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	K	182;215;153;215;215;208;92	ENSP00000397189:E182K;ENSP00000262059:E215K;ENSP00000447647:E215K;ENSP00000449960:E215K	ENSP00000262059:E215K	E	-	1	0	CALCOCO1	52401633	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.495000	0.53280	2.482000	0.83794	0.563000	0.77884	GAG		PASS	0.532	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		6	292	6	292	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56717636	56717636	+	Silent	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:56717636C>T	ENST00000425394.2	-	14	2515	c.2139G>A	c.(2137-2139)caG>caA	p.Q713Q	PAN2_ENST00000440411.3_Silent_p.Q709Q|PAN2_ENST00000548043.1_Silent_p.Q713Q|PAN2_ENST00000257931.5_Silent_p.Q712Q	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.Q709Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCTGTGTATTCTGGTCCAGGC	0.512																																						uc001skx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2137-2139)CAG>CAA		PAN2 polyA specific ribonuclease subunit homolog							101.0	90.0	94.0					12																	56717636		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56717636C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2139G>A	12.37:g.56717636C>T						PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Silent_p.Q712Q|PAN2_uc001sky.2_Silent_p.Q709Q	p.Q713Q	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			14	2512	-			713						Silent	SNP	ENST00000425394.2	37	c.2139G>A	CCDS44922.1																																																																																				PASS	0.512	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		6	37	6	37	---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	101005798	101005798	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:101005798G>A	ENST00000539410.1	+	5	710	c.324G>A	c.(322-324)gtG>gtA	p.V108V	GAS2L3_ENST00000266754.5_Silent_p.V108V|GAS2L3_ENST00000547754.1_Silent_p.V108V|GAS2L3_ENST00000537247.1_Silent_p.V4V			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	108	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.V108V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGAAAAGTGCCCTGTAAGA	0.353																																						uc001thu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(322-324)GTG>GTA		growth arrest-specific 2 like 3							118.0	116.0	116.0					12																	101005798		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101005798G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.324G>A	12.37:g.101005798G>A						GAS2L3_uc009zty.2_Silent_p.V108V|GAS2L3_uc001thv.2_Silent_p.V4V	p.V108V	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			6	550	+			108			CH.		B2RCN2	Silent	SNP	ENST00000539410.1	37	c.324G>A	CCDS9079.1																																																																																				PASS	0.353	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		31	20	31	20	---	---	---	---
PEBP1	5037	broad.mit.edu	37	12	118575878	118575878	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:118575878G>T	ENST00000261313.2	+	2	522	c.170G>T	c.(169-171)gGt>gTt	p.G57V		NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	57						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G57V(1)		ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGTGGGATGGTCTTGATTCA	0.488																																					NSCLC(44;94 1357 12187 49467)	uc001twu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GGT>GTT	Direct_reversal_of_damage	prostatic binding protein							61.0	52.0	55.0					12																	118575878		2203	4300	6503	SO:0001583	missense	5037						ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity	g.chr12:118575878G>T	X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"""Raf kinase inhibitory protein"", ""hippocampal cholinergic neurostimulating peptide"""	604591	"""prostatic binding protein"""	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.170G>T	12.37:g.118575878G>T	ENSP00000261313:p.Gly57Val					PEBP1_uc010szc.1_Missense_Mutation_p.G57V	p.G57V	NM_002567	NP_002558	P30086	PEBP1_HUMAN			2	315	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		57					B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	c.170G>T	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393040	0.42410	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.32515	1.45	4.41	4.41	0.53225	.	0.107784	0.64402	D	0.000005	T	0.43277	0.1240	M	0.83483	2.645	0.80722	D	1	B;B	0.18863	0.031;0.004	B;B	0.28849	0.095;0.015	T	0.48258	-0.9051	10	0.46703	T	0.11	-14.9871	17.1815	0.86856	0.0:0.0:1.0:0.0	.	57;57	B4DRT4;P30086	.;PEBP1_HUMAN	V	57	ENSP00000261313:G57V	ENSP00000261313:G57V	G	+	2	0	PEBP1	117060261	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	7.206000	0.77891	2.283000	0.76528	0.655000	0.94253	GGT		PASS	0.488	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		3	21	3	21	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118693369	118693369	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr12:118693369G>C	ENST00000392533.3	-	3	494	c.4C>G	c.(4-6)Cgt>Ggt	p.R2G	TAOK3_ENST00000419821.2_Missense_Mutation_p.R2G	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	2					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.R2G(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCCTTTACGCATGATGGCC	0.398																																						uc001twx.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(1)	6						c.(4-6)CGT>GGT		TAO kinase 3							129.0	130.0	130.0					12																	118693369		2203	4300	6503	SO:0001583	missense	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.chr12:118693369G>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.4C>G	12.37:g.118693369G>C	ENSP00000376317:p.Arg2Gly					TAOK3_uc001twy.3_Missense_Mutation_p.R2G	p.R2G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			3	299	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.4C>G	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515755	0.64634	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902;ENST00000542532;ENST00000541786;ENST00000539872	T;T;T;T;T;T	0.76186	-1.0;-1.0;1.29;3.28;1.07;1.06	4.88	4.88	0.63580	.	0.000000	0.64402	U	0.000001	T	0.78916	0.4359	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.82293	-0.0529	10	0.87932	D	0	.	18.2245	0.89913	0.0:0.0:1.0:0.0	.	2	Q9H2K8	TAOK3_HUMAN	G	2	ENSP00000416374:R2G;ENSP00000376317:R2G;ENSP00000443465:R2G;ENSP00000438820:R2G;ENSP00000444057:R2G;ENSP00000440315:R2G	ENSP00000376317:R2G	R	-	1	0	TAOK3	117177752	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	7.315000	0.78998	2.548000	0.85928	0.655000	0.94253	CGT		PASS	0.398	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		39	102	39	102	---	---	---	---
SLC7A1	6541	broad.mit.edu	37	13	30104821	30104821	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr13:30104821C>A	ENST00000380752.5	-	5	944	c.558G>T	c.(556-558)tcG>tcT	p.S186S		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	186					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.S186S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGACCATGGCCGACTCTTTCA	0.433																																						uc001uso.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(556-558)TCG>TCT		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						117.0	113.0	114.0					13																	30104821		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30104821C>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.558G>T	13.37:g.30104821C>A							p.S186S	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	5	945	-		Lung SC(185;0.0257)|Breast(139;0.238)	186			Cytoplasmic (Potential).		Q5JR50	Silent	SNP	ENST00000380752.5	37	c.558G>T	CCDS9333.1																																																																																				PASS	0.433	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		47	18	47	18	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	76055559	76055559	+	Silent	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr13:76055559C>T	ENST00000377636.3	-	1	691	c.345G>A	c.(343-345)gcG>gcA	p.A115A	TBC1D4_ENST00000431480.2_Silent_p.A115A|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.A115A	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	115	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.A115A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGATGAATACCGCCGGGTTGG	0.662																																						uc001vjl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(343-345)GCG>GCA		TBC1 domain family, member 4							78.0	91.0	87.0					13																	76055559		2143	4257	6400	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:76055559C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.345G>A	13.37:g.76055559C>T						TBC1D4_uc010aer.2_Silent_p.A115A|TBC1D4_uc010aes.2_Silent_p.A115A	p.A115A	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	1	692	-		Prostate(6;0.014)|Breast(118;0.0982)	115			PID 1.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.345G>A	CCDS41901.1																																																																																				PASS	0.662	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		31	7	31	7	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79946001	79946001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr13:79946001G>C	ENST00000438737.2	-	4	832	c.392C>G	c.(391-393)tCa>tGa	p.S131*	RBM26_ENST00000438724.1_Nonsense_Mutation_p.S131*|RBM26_ENST00000267229.7_Nonsense_Mutation_p.S131*			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	131					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.S131*(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)		TCGGGAGCTTGACTGGGGAGG	0.368																																						uc001vkz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(391-393)TCA>TGA		RNA binding motif protein 26							148.0	153.0	151.0					13																	79946001		2203	4300	6503	SO:0001587	stop_gained	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79946001G>C	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.392C>G	13.37:g.79946001G>C	ENSP00000387531:p.Ser131*					RBM26_uc001vky.2_Nonsense_Mutation_p.S131*|RBM26_uc001vla.2_Nonsense_Mutation_p.S131*|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_5'Flank	p.S131*	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	4	406	-		Acute lymphoblastic leukemia(28;0.0279)	131					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Nonsense_Mutation	SNP	ENST00000438737.2	37	c.392C>G		.	.	.	.	.	.	.	.	.	.	G	41	8.819998	0.98966	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	.	.	.	5.73	5.73	0.89815	.	0.142348	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6241	18.0933	0.89480	0.0:0.0:1.0:0.0	.	.	.	.	X	131;132;131;131	.	.	S	-	2	0	RBM26	78844002	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.815000	0.91973	2.718000	0.92993	0.655000	0.94253	TCA		PASS	0.368	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		9	28	9	28	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26917694	26917694	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:26917694A>T	ENST00000539517.2	-	5	1312	c.995T>A	c.(994-996)tTa>tAa	p.L332*	NOVA1_ENST00000465357.2_Nonsense_Mutation_p.L308*|NOVA1_ENST00000267422.7_Nonsense_Mutation_p.L210*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	335	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.L332*(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)		ACCTAAACCTAAAGTGTTGAG	0.502																																						uc001wpy.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(994-996)TTA>TAA		neuro-oncological ventral antigen 1 isoform 1							47.0	44.0	45.0					14																	26917694		2203	4300	6503	SO:0001587	stop_gained	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917694A>T	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.995T>A	14.37:g.26917694A>T	ENSP00000438875:p.Leu332*					NOVA1_uc001wpz.2_Nonsense_Mutation_p.L308*|NOVA1_uc001wqa.2_Nonsense_Mutation_p.L210*	p.L332*	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1313	-			335			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Nonsense_Mutation	SNP	ENST00000539517.2	37	c.995T>A	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	A	32	5.116193	0.94339	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	.	.	.	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9923	16.3756	0.83387	1.0:0.0:0.0:0.0	.	.	.	.	X	308;332;210	.	ENSP00000267422:L210X	L	-	2	0	NOVA1	25987534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.297000	0.96120	2.270000	0.75569	0.460000	0.39030	TTA		PASS	0.502	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		17	16	17	16	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974483	44974483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:44974483C>A	ENST00000340446.4	-	1	1999	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	570	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E570*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGGGCCTCTTCTATAGAAACT	0.517																																						uc001wvn.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1708-1710)GAA>TAA		fibrous sheath CABYR binding protein							31.0	34.0	33.0					14																	44974483		2203	4300	6503	SO:0001587	stop_gained	84075					cilium		g.chr14:44974483C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1708G>T	14.37:g.44974483C>A	ENSP00000344579:p.Glu570*						p.E570*	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2017	-			570			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	ENST00000340446.4	37	c.1708G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	38	6.953609	0.97960	.	.	ENSG00000189139	ENST00000340446	.	.	.	5.52	2.69	0.31865	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.1797	0.15154	0.0:0.606:0.1505:0.2434	.	.	.	.	X	570	.	ENSP00000344579:E570X	E	-	1	0	FSCB	44044233	0.632000	0.27172	0.027000	0.17364	0.069000	0.16628	0.950000	0.29122	0.393000	0.25203	-0.206000	0.12725	GAA		PASS	0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		17	37	17	37	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975345	44975345	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:44975345C>G	ENST00000340446.4	-	1	1137	c.846G>C	c.(844-846)gaG>gaC	p.E282D	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	282						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E282D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGGTCTGGGCTCCGCTTTAG	0.473																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(844-846)GAG>GAC		fibrous sheath CABYR binding protein							55.0	57.0	56.0					14																	44975345		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975345C>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.846G>C	14.37:g.44975345C>G	ENSP00000344579:p.Glu282Asp						p.E282D	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1155	-			282					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.846G>C	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797461	0.31777	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25579	1.79	4.06	-0.0719	0.13742	.	.	.	.	.	T	0.23133	0.0559	L	0.34521	1.04	0.09310	N	1	D	0.54207	0.965	P	0.52554	0.702	T	0.20907	-1.0261	9	0.14252	T	0.57	-1.6577	7.1473	0.25591	0.0:0.577:0.0:0.423	.	282	Q5H9T9	FSCB_HUMAN	D	282	ENSP00000344579:E282D	ENSP00000344579:E282D	E	-	3	2	FSCB	44045095	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.585000	0.05794	-0.142000	0.11354	0.655000	0.94253	GAG		PASS	0.473	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		19	29	19	29	---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57700535	57700535	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:57700535C>T	ENST00000413566.2	-	9	1140	c.781G>A	c.(781-783)Gtt>Att	p.V261I	EXOC5_ENST00000340918.7_Missense_Mutation_p.V196I	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	261					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.V261I(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATATCTCCAACTTGTTTGTTC	0.308																																						uc001xct.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(781-783)GTT>ATT		SEC10 protein							114.0	105.0	108.0					14																	57700535		1817	4067	5884	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57700535C>T	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.781G>A	14.37:g.57700535C>T	ENSP00000389934:p.Val261Ile					EXOC5_uc001xcs.2_5'Flank|EXOC5_uc010trg.1_Missense_Mutation_p.V206I|EXOC5_uc010trh.1_Missense_Mutation_p.V196I	p.V261I	NM_006544	NP_006535	O00471	EXOC5_HUMAN			9	1032	-			261					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.781G>A	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255489	0.22965	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.32272	1.46;1.5	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	N	0.00793	-1.18	0.80722	D	1	B;B	0.27625	0.183;0.042	B;B	0.24974	0.057;0.026	T	0.29912	-0.9996	10	0.02654	T	1	-16.6649	19.1518	0.93493	0.0:1.0:0.0:0.0	.	196;261	F8W9B8;O00471	.;EXOC5_HUMAN	I	261;196	ENSP00000389934:V261I;ENSP00000342100:V196I	ENSP00000342100:V196I	V	-	1	0	EXOC5	56770288	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.714000	0.84703	2.525000	0.85131	0.585000	0.79938	GTT		PASS	0.308	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		12	37	12	37	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58813807	58813807	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:58813807T>G	ENST00000355431.3	+	14	1517	c.1144T>G	c.(1144-1146)Tcc>Gcc	p.S382A	ARID4A_ENST00000348476.3_Missense_Mutation_p.S382A|ARID4A_ENST00000431317.2_Missense_Mutation_p.S382A|ARID4A_ENST00000395168.3_Missense_Mutation_p.S382A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	382	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S382A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCAGCTGCTTCCTACAATGT	0.279																																						uc001xdp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(1144-1146)TCC>GCC		retinoblastoma-binding protein 1 isoform I							52.0	50.0	51.0					14																	58813807		2203	4295	6498	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58813807T>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1144T>G	14.37:g.58813807T>G	ENSP00000347602:p.Ser382Ala					ARID4A_uc001xdo.2_Missense_Mutation_p.S382A|ARID4A_uc001xdq.2_Missense_Mutation_p.S382A|ARID4A_uc010apg.1_Missense_Mutation_p.S60A	p.S382A	NM_002892	NP_002883	P29374	ARI4A_HUMAN			14	1398	+			382			ARID.		Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.1144T>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782349	0.70222	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.38	5.38	0.77491	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	L	0.27975	0.815	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.982	D;D;D	0.83275	0.99;0.996;0.931	T	0.64228	-0.6457	10	0.23302	T	0.38	-6.1621	15.694	0.77481	0.0:0.0:0.0:1.0	.	382;382;382	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	A	382;382;382;382;60	ENSP00000347602:S382A;ENSP00000344556:S382A;ENSP00000378597:S382A;ENSP00000397368:S382A;ENSP00000416053:S60A	ENSP00000344556:S382A	S	+	1	0	ARID4A	57883560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.182000	0.71995	2.164000	0.68074	0.528000	0.53228	TCC		PASS	0.279	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		9	17	9	17	---	---	---	---
JDP2	122953	broad.mit.edu	37	14	75904629	75904629	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:75904629G>A	ENST00000435893.2	+	2	279	c.6G>A	c.(4-6)atG>atA	p.M2I	JDP2_ENST00000267569.5_Missense_Mutation_p.M13I|JDP2_ENST00000437176.1_Missense_Mutation_p.M2I|JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000419727.2_Missense_Mutation_p.M2I	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	2					negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M2I(1)		lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	CTGCTATGATGCCTGGGCAGA	0.667																																						uc010asj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)ATG>ATA		Jun dimerization protein 2 isoform a							25.0	29.0	28.0					14																	75904629		2203	4300	6503	SO:0001583	missense	122953					nucleus	sequence-specific DNA binding	g.chr14:75904629G>A	AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"""basic leucine zipper proteins"""	17546	protein-coding gene	gene with protein product	"""progesterone receptor co-activator"""	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.6G>A	14.37:g.75904629G>A	ENSP00000399587:p.Met2Ile					JDP2_uc010tvb.1_Missense_Mutation_p.M2I|JDP2_uc010tvc.1_Missense_Mutation_p.M2I|JDP2_uc001xrq.2_Missense_Mutation_p.M13I	p.M2I	NM_001135047	NP_001128519	Q8WYK2	JDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0296)	2	73	+			2					J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	ENST00000435893.2	37	c.6G>A	CCDS9842.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959135	0.74016	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	T;T;T;T	0.57907	0.37;0.37;0.37;0.46	5.61	5.61	0.85477	.	0.042669	0.85682	N	0.000000	T	0.59582	0.2204	L	0.32530	0.975	0.53688	D	0.99997	P	0.45126	0.851	P	0.58391	0.838	T	0.50541	-0.8816	10	0.23302	T	0.38	-12.5534	17.8326	0.88687	0.0:0.0:1.0:0.0	.	2	Q8WYK2	JDP2_HUMAN	I	2;2;2;13	ENSP00000415558:M2I;ENSP00000409787:M2I;ENSP00000399587:M2I;ENSP00000267569:M13I	ENSP00000267569:M13I	M	+	3	0	JDP2	74974382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.922000	0.92789	2.656000	0.90262	0.561000	0.74099	ATG		PASS	0.667	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415505.1	NM_130469		8	6	8	6	---	---	---	---
TMED8	283578	broad.mit.edu	37	14	77810117	77810117	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:77810117T>A	ENST00000216468.7	-	4	432	c.377A>T	c.(376-378)cAg>cTg	p.Q126L		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	126					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.Q126L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATGTTCAGACTGGATCATAAC	0.448																																						uc001xto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)CAG>CTG		transmembrane emp24 protein transport domain							157.0	151.0	153.0					14																	77810117		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77810117T>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.377A>T	14.37:g.77810117T>A	ENSP00000216468:p.Gln126Leu					TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_5'Flank	p.Q126L	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	377	-			126					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.377A>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848386	0.91277	.	.	ENSG00000100580	ENST00000216468	T	0.25912	1.77	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000004	T	0.41305	0.1153	L	0.34521	1.04	0.53005	D	0.99996	D	0.76494	0.999	D	0.78314	0.991	T	0.14924	-1.0455	10	0.45353	T	0.12	.	16.4496	0.83976	0.0:0.0:0.0:1.0	.	126	Q6PL24	TMED8_HUMAN	L	126	ENSP00000216468:Q126L	ENSP00000216468:Q126L	Q	-	2	0	TMED8	76879870	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.161000	0.64935	2.284000	0.76573	0.533000	0.62120	CAG		PASS	0.448	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		41	79	41	79	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94088266	94088266	+	Nonsense_Mutation	SNP	G	G	T	rs78490074	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr14:94088266G>T	ENST00000393151.2	+	30	4687	c.4687G>T	c.(4687-4689)Gag>Tag	p.E1563*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.E1563*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.E1585*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E1386*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1563					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1386*(1)|p.E1585*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAAATCCCCGAGAACCCAGC	0.512																																						uc001ybv.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4222-4224)GAG>TAG		hypothetical protein LOC57578							74.0	71.0	72.0					14																	94088266		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94088266G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4687G>T	14.37:g.94088266G>T	ENSP00000376858:p.Glu1563*					KIAA1409_uc001ybs.1_Nonsense_Mutation_p.E1386*	p.E1408*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4305	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1563					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.4222G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.891691	0.98545	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.98	4.16	0.48862	.	0.152716	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-17.507	12.2732	0.54719	0.1383:0.0:0.8617:0.0	.	.	.	.	X	1386;1563;1585;1563;1585	.	ENSP00000256339:E1386X	E	+	1	0	KIAA1409	93158019	1.000000	0.71417	0.764000	0.31436	0.224000	0.24922	5.281000	0.65609	0.865000	0.35603	-0.191000	0.12829	GAG		PASS	0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	98	4	98	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31354881	31354881	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr15:31354881C>G	ENST00000256552.6	-	9	1137	c.990G>C	c.(988-990)gaG>gaC	p.E330D	TRPM1_ENST00000542188.1_Missense_Mutation_p.E347D|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E308D	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.E308D(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTAGAAGCTGCTCCCTGAGGG	0.343																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(922-924)GAG>GAC		transient receptor potential cation channel,							106.0	94.0	98.0					15																	31354881		1813	4080	5893	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31354881C>G	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.990G>C	15.37:g.31354881C>G	ENSP00000256552:p.Glu330Asp					TRPM1_uc010azy.2_Missense_Mutation_p.E215D|TRPM1_uc001zfl.2_RNA	p.E308D	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	8	1052	-		all_lung(180;1.92e-11)	308			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.924G>C	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	2.778	-0.254053	0.05829	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61158	0.13;0.13;0.13	5.72	-4.79	0.03200	.	0.043135	0.85682	N	0.000000	T	0.25568	0.0622	N	0.05487	-0.04	0.26829	N	0.968624	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.33904	-0.9850	10	0.02654	T	1	-28.951	11.6975	0.51553	0.3451:0.1139:0.5409:0.0	.	302;308	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	D	308;347;330;308	ENSP00000380897:E308D;ENSP00000437849:E347D;ENSP00000256552:E330D	ENSP00000256552:E330D	E	-	3	2	TRPM1	29142173	0.933000	0.31639	0.897000	0.35233	0.943000	0.58893	0.016000	0.13377	-1.263000	0.02455	-0.274000	0.10170	GAG		PASS	0.343	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		8	23	8	23	---	---	---	---
DUOXA2	405753	broad.mit.edu	37	15	45408422	45408422	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr15:45408422C>A	ENST00000323030.5	+	3	591	c.306C>A	c.(304-306)ctC>ctA	p.L102L	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	102					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L102L(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCCGTCTGCTCGTGGGCCTGG	0.567																																						uc001zuo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)CTC>CTA		dual oxidase activator 2							121.0	113.0	116.0					15																	45408422		1986	4145	6131	SO:0001819	synonymous_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408422C>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.306C>A	15.37:g.45408422C>A						DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	p.L102L	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	3	586	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	102			Extracellular (Potential).		B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	c.306C>A	CCDS10118.2																																																																																				PASS	0.567	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		5	155	5	155	---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52561963	52561963	+	Silent	SNP	G	G	T	rs142061334	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr15:52561963G>T	ENST00000261839.7	-	8	1088	c.927C>A	c.(925-927)acC>acA	p.T309T	MYO5C_ENST00000443683.2_Silent_p.T252T|MYO5C_ENST00000541028.1_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	309	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T309T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GAAGCGTGAAGGTCTTTTGAG	0.413																																						uc010bff.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(925-927)ACC>ACA		myosin VC							185.0	167.0	173.0					15																	52561963		1877	4107	5984	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52561963G>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.927C>A	15.37:g.52561963G>T						MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron	p.T309T	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	8	1064	-			309			Myosin head-like.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.927C>A	CCDS42036.1																																																																																				PASS	0.413	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	98	5	98	---	---	---	---
CSNK1G1	53944	broad.mit.edu	37	15	64495336	64495336	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr15:64495336C>G	ENST00000303052.7	-	10	1475	c.1052G>C	c.(1051-1053)cGa>cCa	p.R351P	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R351P|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R351P|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R333P	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	351					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R351P(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						GTGGCTTTCTCGAGTTATTGC	0.453																																						uc002anf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1051-1053)CGA>CCA		casein kinase 1, gamma 1							227.0	179.0	195.0					15																	64495336		2203	4300	6503	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64495336C>G	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.1052G>C	15.37:g.64495336C>G	ENSP00000305777:p.Arg351Pro					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R351P|CSNK1G1_uc002anh.1_Missense_Mutation_p.R351P|CSNK1G1_uc002anj.2_Missense_Mutation_p.R333P	p.R351P	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			10	1532	-			351					Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.1052G>C	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872345	0.72180	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	T;T	0.04654	3.58;3.58	5.14	5.14	0.70334	Casein kinase 1 gamma C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	M	0.63843	1.955	0.80722	D	1	D;B;B;B	0.76494	0.999;0.087;0.012;0.004	D;B;B;B	0.83275	0.996;0.076;0.041;0.016	T	0.06058	-1.0848	10	0.17832	T	0.49	.	17.9636	0.89093	0.0:1.0:0.0:0.0	.	209;351;351;351	Q9H5M4;Q9HCP0-2;Q8IXA3;Q9HCP0	.;.;.;KC1G1_HUMAN	P	351;307;351	ENSP00000305777:R351P;ENSP00000307753:R351P	ENSP00000307753:R351P	R	-	2	0	CSNK1G1	62282389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.561000	0.86390	0.563000	0.77884	CGA		PASS	0.453	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		9	19	9	19	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72542428	72542428	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr15:72542428G>A	ENST00000569795.1	-	19	2111	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.S475F|PARP6_ENST00000260376.7_Missense_Mutation_p.S475F			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	475	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S475F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTCAATGTGGGACCCACTGTA	0.507																																						uc002auc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1423-1425)TCC>TTC		poly (ADP-ribose) polymerase family, member 6							121.0	122.0	121.0					15																	72542428		2016	4184	6200	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72542428G>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1424C>T	15.37:g.72542428G>A	ENSP00000456348:p.Ser475Phe					PARP6_uc002aua.2_Missense_Mutation_p.S321F|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.S476F	p.S475F	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			18	1883	-			475			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.1424C>T	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768797	0.90020	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376	T;T	0.25912	1.77;1.77	5.1	5.1	0.69264	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.998	D;D;D	0.85130	0.997;0.99;0.967	T	0.73357	-0.4008	10	0.87932	D	0	-14.4691	17.2546	0.87052	0.0:0.0:1.0:0.0	.	476;475;408	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	F	476;475;475	ENSP00000403265:S476F;ENSP00000287196:S475F	ENSP00000260376:S475F	S	-	2	0	PARP6	70329482	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.436000	0.97532	2.661000	0.90470	0.650000	0.86243	TCC		PASS	0.507	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		7	41	7	41	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749056	79749056	+	Silent	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr15:79749056C>G	ENST00000305428.3	+	2	642	c.567C>G	c.(565-567)gcC>gcG	p.A189A		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	189						integral component of membrane (GO:0016021)		p.A189A(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAAACCGCGCCGCTTCCCTGG	0.572																																						uc002bew.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(565-567)GCC>GCG		hypothetical protein LOC23251							51.0	55.0	54.0					15																	79749056		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749056C>G	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.567C>G	15.37:g.79749056C>G						KIAA1024_uc010unk.1_Silent_p.A189A	p.A189A	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	642	+			189					A7MD43	Silent	SNP	ENST00000305428.3	37	c.567C>G	CCDS32306.1																																																																																				PASS	0.572	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		14	32	14	32	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19041589	19041589	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr16:19041589T>C	ENST00000304381.5	+	6	885	c.755T>C	c.(754-756)aTt>aCt	p.I252T	TMC7_ENST00000569532.1_Missense_Mutation_p.I252T|TMC7_ENST00000421369.3_Missense_Mutation_p.I142T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	252					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.I252T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CATTACACCATTGATGGGGTG	0.483																																						uc002dfq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(754-756)ATT>ACT		transmembrane channel-like 7 isoform a							147.0	132.0	137.0					16																	19041589		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19041589T>C	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.755T>C	16.37:g.19041589T>C	ENSP00000304710:p.Ile252Thr					TMC7_uc010vao.1_Missense_Mutation_p.I252T|TMC7_uc002dfp.2_Missense_Mutation_p.I252T|TMC7_uc010vap.1_Missense_Mutation_p.I142T	p.I252T	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			6	885	+			252			Extracellular (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.755T>C	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515336	0.27123	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.52754	0.65;0.65	5.63	5.63	0.86233	.	0.215229	0.41396	D	0.000900	T	0.52773	0.1755	L	0.44542	1.39	0.40109	D	0.976465	D;B;B	0.54601	0.967;0.003;0.003	P;B;B	0.54026	0.74;0.017;0.017	T	0.47686	-0.9098	10	0.25751	T	0.34	.	15.8097	0.78547	0.0:0.0:0.0:1.0	.	252;252;252	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	T	252;142	ENSP00000304710:I252T;ENSP00000397081:I142T	ENSP00000304710:I252T	I	+	2	0	TMC7	18949090	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	4.317000	0.59184	2.281000	0.76405	0.533000	0.62120	ATT		PASS	0.483	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		44	27	44	27	---	---	---	---
TMEM159	57146	broad.mit.edu	37	16	21181808	21181808	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr16:21181808G>A	ENST00000233047.4	+	3	615	c.147G>A	c.(145-147)ccG>ccA	p.P49P	TMEM159_ENST00000451578.2_Silent_p.P73P|TMEM159_ENST00000572599.1_Silent_p.P49P|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Silent_p.P49P|TMEM159_ENST00000572258.1_Silent_p.P49P			Q96B96	TM159_HUMAN	transmembrane protein 159	49						integral component of membrane (GO:0016021)		p.P49P(1)		large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		ACAGCCATCCGTTTCTGGCCT	0.537																																						uc002dif.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(145-147)CCG>CCA		transmembrane protein 159							393.0	310.0	338.0					16																	21181808		2200	4300	6500	SO:0001819	synonymous_variant	57146					integral to membrane		g.chr16:21181808G>A	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.147G>A	16.37:g.21181808G>A						TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Silent_p.P73P|TMEM159_uc002dih.3_Silent_p.P49P	p.P49P	NM_020422	NP_065155	Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	3	508	+			49					A6NMA9|B4DEC1|O00323	Silent	SNP	ENST00000233047.4	37	c.147G>A	CCDS10595.1																																																																																				PASS	0.537	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		55	19	55	19	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5039221	5039221	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:5039221C>T	ENST00000574788.1	+	17	2892	c.662C>T	c.(661-663)cCa>cTa	p.P221L	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.P221L|USP6_ENST00000332776.4_Missense_Mutation_p.P221L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	221	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.P221L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CACTCCCTGCCAGGTAGGTGA	0.622			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(661-663)CCA>CTA		ubiquitin specific protease 6							62.0	53.0	56.0					17																	5039221		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5039221C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.662C>T	17.37:g.5039221C>T	ENSP00000460380:p.Pro221Leu					USP6_uc002gav.1_Missense_Mutation_p.P221L|USP6_uc010ckz.1_5'UTR|uc002gba.2_5'Flank|uc002gbb.2_5'Flank	p.P221L	NM_004505	NP_004496	P35125	UBP6_HUMAN			17	2892	+			221			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.662C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173695	0.57584	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.28069	1.63;1.63	0.862	-1.72	0.08107	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	L	0.56769	1.78	0.80722	D	1	P	0.45594	0.862	B	0.36134	0.218	T	0.05616	-1.0874	10	0.48119	T	0.1	.	2.8879	0.05667	0.4942:0.5057:0.0:0.0	.	221	P35125	UBP6_HUMAN	L	221	ENSP00000328010:P221L;ENSP00000250066:P221L	ENSP00000250066:P221L	P	+	2	0	USP6	4979945	1.000000	0.71417	0.264000	0.24511	0.267000	0.26476	3.836000	0.55813	0.132000	0.18615	0.134000	0.15878	CCA		PASS	0.622	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		17	25	17	25	---	---	---	---
ATP1B2	482	broad.mit.edu	37	17	7557573	7557573	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:7557573C>T	ENST00000250111.4	+	4	957	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	184					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)|p.R184W(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CAAGATGAACCGGGTATCTAT	0.557																																						uc002gif.1																			4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|pancreas(1)	2						c.(550-552)CGG>TGG		Na+/K+ -ATPase beta 2 subunit							92.0	89.0	91.0					17																	7557573		2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557573C>T	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.550C>T	17.37:g.7557573C>T	ENSP00000250111:p.Arg184Trp						p.R184W	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	4	1133	+		all_cancers(10;0.000178)|Prostate(122;0.081)	184			Extracellular (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.550C>T	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583589	0.86748	.	.	ENSG00000129244	ENST00000250111	T	0.39229	1.09	5.17	5.17	0.71159	.	0.125717	0.52532	D	0.000067	T	0.64951	0.2645	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	P	0.57620	0.824	T	0.73272	-0.4035	10	0.87932	D	0	-2.1047	11.2892	0.49239	0.1822:0.8177:0.0:0.0	.	184	P14415	AT1B2_HUMAN	W	184	ENSP00000250111:R184W	ENSP00000250111:R184W	R	+	1	2	ATP1B2	7498298	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.962000	0.40442	2.408000	0.81797	0.561000	0.74099	CGG		PASS	0.557	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		37	123	37	123	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	CM971506	TP53	M	rs121913344	c.(916-918)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							120.0	106.0	110.0					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1110	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	60	39	60	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	rs587780075		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:7577138C>G	ENST00000269305.4	-	8	989	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000420246.2_Missense_Mutation_p.R267P|TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000445888.2_Missense_Mutation_p.R267P	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	AAAGCTGTTCCGTCCCAGTAG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(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	CM921040	TP53	M		c.(799-801)CGG>CCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.800G>C	17.37:g.7577138C>G	ENSP00000269305:p.Arg267Pro	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.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P	p.R267P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and 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.800G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857957	0.71834	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99837	0.9926	M	0.90759	3.145	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	D	0.97815	1.0253	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	267;267;267;267;267;256;135	ENSP00000352610:R267P;ENSP00000269305:R267P;ENSP00000398846:R267P;ENSP00000391127:R267P;ENSP00000391478:R267P;ENSP00000425104:R135P	ENSP00000269305:R267P	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		PASS	0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	18	5	18	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	T	rs267605076		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:7578177C>T	ENST00000269305.4	-	6	861	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000420246.2_Splice_Site_p.E224E|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224E|TP53_ENST00000445888.2_Splice_Site_p.E224E	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAAACCAGACCTCAGGCGGCT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|liver(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						c.(670-672)GAG>GAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							81.0	76.0	78.0					17																	7578177		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578177C>T	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.672+1G>A	17.37:g.7578177C>T		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_Silent_p.E224E|TP53_uc002gih.2_Silent_p.E224E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.E92E|TP53_uc010cng.1_Silent_p.E92E|TP53_uc002gii.1_Silent_p.E92E|TP53_uc010cnh.1_Silent_p.E224E|TP53_uc010cni.1_Silent_p.E224E|TP53_uc002gij.2_Silent_p.E224E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Silent_p.E131E|TP53_uc002gio.2_Silent_p.E92E|TP53_uc010vug.1_Silent_p.E185E	p.E224E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	224		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.672G>A	CCDS11118.1																																																																																				PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	11	20	11	20	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9792887	9792887	+	Silent	SNP	T	T	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:9792887T>G	ENST00000262441.5	+	13	2040	c.1527T>G	c.(1525-1527)ggT>ggG	p.G509G	GLP2R_ENST00000574745.1_Silent_p.G329G	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	509					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.G509G(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CCATGCGAGGTCTTGGGGAGC	0.627																																						uc002gmd.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(1525-1527)GGT>GGG		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						40.0	41.0	41.0					17																	9792887		2203	4300	6503	SO:0001819	synonymous_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9792887T>G	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1527T>G	17.37:g.9792887T>G							p.G509G	NM_004246	NP_004237	O95838	GLP2R_HUMAN			13	1527	+			509			Cytoplasmic (Potential).		Q4VAT3	Silent	SNP	ENST00000262441.5	37	c.1527T>G	CCDS11150.1																																																																																				PASS	0.627	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			18	31	18	31	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10359023	10359023	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:10359023C>A	ENST00000255381.2	-	19	2192	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	694	Myosin motor.				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.L694L(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						TCAGCTGATGCAGGACAAGCT	0.488																																						uc002gmn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2080-2082)CTG>CTT		myosin, heavy polypeptide 4, skeletal muscle							114.0	95.0	101.0					17																	10359023		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359023C>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.2082G>T	17.37:g.10359023C>A						uc002gml.1_Intron	p.L694L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			19	2193	-			694			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.2082G>T	CCDS11154.1																																																																																				PASS	0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		17	44	17	44	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10400644	10400644	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:10400644G>T	ENST00000226207.5	-	32	4585	c.4491C>A	c.(4489-4491)gaC>gaA	p.D1497E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1497					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1497E(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTCAAGTTGGTCTAAAGATT	0.338																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4489-4491)GAC>GAA		myosin, heavy chain 1, skeletal muscle, adult							80.0	81.0	81.0					17																	10400644		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10400644G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4491C>A	17.37:g.10400644G>T	ENSP00000226207:p.Asp1497Glu					uc002gml.1_Intron	p.D1497E	NM_005963	NP_005954	P12882	MYH1_HUMAN			32	4585	-			1497			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4491C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848580	0.32699	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.80738	-1.41	5.76	4.79	0.61399	Myosin tail (1);	0.000000	0.45361	U	0.000379	T	0.63792	0.2541	N	0.10782	0.045	0.46725	D	0.999177	B	0.21688	0.059	B	0.32762	0.152	T	0.57177	-0.7856	10	0.06236	T	0.91	.	12.0162	0.53315	0.1392:0.0:0.8608:0.0	.	1497	P12882	MYH1_HUMAN	E	1497;586	ENSP00000226207:D1497E	ENSP00000226207:D1497E	D	-	3	2	MYH1	10341369	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.540000	0.23191	1.555000	0.49500	0.655000	0.94253	GAC		PASS	0.338	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		11	37	11	37	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11532901	11532901	+	Splice_Site	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:11532901G>C	ENST00000262442.4	+	7	1586	c.1518G>C	c.(1516-1518)acG>acC	p.T506T	DNAH9_ENST00000454412.2_Splice_Site_p.T506T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	506	Stem. {ECO:0000250}.				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.T506T(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)		TCCAAAGCACGGTAGGGTTGG	0.512																																						uc002gne.2																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1516-1518)ACG>ACC		dynein, axonemal, heavy chain 9 isoform 2							76.0	72.0	74.0					17																	11532901		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.chr17:11532901G>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.1518+1G>C	17.37:g.11532901G>C							p.T506T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1586	+		Breast(5;0.0122)|all_epithelial(5;0.131)	506			Potential.|Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.1518G>C	CCDS11160.1																																																																																				PASS	0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Silent	13	49	13	49	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27011913	27011913	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:27011913C>A	ENST00000314616.6	+	19	2704	c.2421C>A	c.(2419-2421)gaC>gaA	p.D807E	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D807E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	807	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D807E(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGTGACAGACTTCCTTCGAC	0.478																																						uc002hby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2419-2421)GAC>GAA		suppressor of Ty 6 homolog							96.0	81.0	86.0					17																	27011913		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27011913C>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2421C>A	17.37:g.27011913C>A	ENSP00000319104:p.Asp807Glu					SUPT6H_uc010crt.2_Missense_Mutation_p.D807E	p.D807E	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			19	2511	+	Lung NSC(42;0.00431)		807					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.2421C>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988468	0.53934	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.4	-0.0674	0.13760	YqgF/RNase H-like domain (1);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.49571	1.57	0.80722	D	1	P	0.45672	0.864	B	0.40375	0.327	T	0.25187	-1.0139	9	0.31617	T	0.26	-25.8377	10.3071	0.43687	0.0:0.5692:0.0:0.4308	.	807	Q7KZ85	SPT6H_HUMAN	E	807	.	ENSP00000319104:D807E	D	+	3	2	SUPT6H	24036040	0.999000	0.42202	0.999000	0.59377	0.840000	0.47671	0.707000	0.25704	0.081000	0.16988	-0.781000	0.03364	GAC		PASS	0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		4	62	4	62	---	---	---	---
DDX52	11056	broad.mit.edu	37	17	35993348	35993348	+	Silent	SNP	G	G	A	rs145856014		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:35993348G>A	ENST00000349699.2	-	3	430	c.387C>T	c.(385-387)tcC>tcT	p.S129S	DDX52_ENST00000394367.3_Silent_p.S21S	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	129						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.S129S(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCAACTTTCCGGAAGTTAGTT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		14859	0.0		0.0	False		,,,				2504	0.001					uc002hoi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(385-387)TCC>TCT		ATP-dependent RNA helicase ROK1 isoform a		G		4,4400	8.1+/-20.4	0,4,2198	89.0	93.0	91.0		387	1.8	1.0	17	dbSNP_134	91	0,8596		0,0,4298	no	coding-synonymous	DDX52	NM_007010.3		0,4,6496	AA,AG,GG		0.0,0.0908,0.0308		129/600	35993348	4,12996	2202	4298	6500	SO:0001819	synonymous_variant	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35993348G>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.387C>T	17.37:g.35993348G>A						DDX52_uc002hoh.1_Silent_p.S21S|DDX52_uc002hoj.1_Silent_p.S37S	p.S129S	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			3	425	-		Breast(25;0.00637)|Ovarian(249;0.15)	129					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Silent	SNP	ENST00000349699.2	37	c.387C>T	CCDS11323.1																																																																																				PASS	0.358	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		31	67	31	67	---	---	---	---
GSDMB	55876	broad.mit.edu	37	17	38073399	38073399	+	Silent	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:38073399G>T	ENST00000394179.1	-	2	301	c.171C>A	c.(169-171)acC>acA	p.T57T	GSDMB_ENST00000360317.3_Silent_p.T57T|GSDMB_ENST00000520542.1_Silent_p.T57T|GSDMB_ENST00000394175.2_Silent_p.T57T|GSDMB_ENST00000309481.7_Silent_p.T57T|GSDMB_ENST00000418519.1_Silent_p.T57T			Q8TAX9	GSDMB_HUMAN	gasdermin B	57						cytoplasm (GO:0005737)		p.T57T(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGTCCATCAGGGTGAGGCCTG	0.517																																						uc010cwj.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|pancreas(1)	2						c.(169-171)ACC>ACA		gasdermin B isoform 1							175.0	154.0	161.0					17																	38073399		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38073399G>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.171C>A	17.37:g.38073399G>T						GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Silent_p.T57T|GSDMB_uc002hth.2_Silent_p.T57T|GSDMB_uc010wem.1_Silent_p.T57T	p.T57T	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN			1	176	-			57					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.171C>A																																																																																					PASS	0.517	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		8	174	8	174	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56670914	56670914	+	Splice_Site	SNP	A	A	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:56670914A>G	ENST00000240361.8	-	15	2680		c.e15+1		TEX14_ENST00000389934.3_Splice_Site|TEX14_ENST00000349033.5_Splice_Site			Q8IWB6	TEX14_HUMAN	testis expressed 14						attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.?(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTTGACCCACCTACTGGTA	0.423																																						uc010dcz.1																			2	Unknown(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.e15+1		testis expressed sequence 14 isoform a							186.0	137.0	154.0					17																	56670914		2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56670914A>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2594+1T>C	17.37:g.56670914A>G						TEX14_uc002iwr.1_Splice_Site_p.S859_splice|TEX14_uc002iws.1_Splice_Site_p.S859_splice|TEX14_uc010dda.1_Splice_Site_p.S639_splice	p.S865_splice	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			15	2712	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)							A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	SNP	ENST00000240361.8	37	c.2594_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735341	0.48939	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8975	0.47031	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEX14	54025913	0.980000	0.34600	0.960000	0.40013	0.494000	0.33585	3.860000	0.55995	2.141000	0.66446	0.460000	0.39030	.		PASS	0.423	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Intron	14	31	14	31	---	---	---	---
KCNJ16	3773	broad.mit.edu	37	17	68128628	68128628	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:68128628T>C	ENST00000589377.1	+	2	563	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	KCNJ16_ENST00000392671.1_Missense_Mutation_p.Y134H|KCNJ16_ENST00000585558.1_Missense_Mutation_p.Y169H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.Y134H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.Y134H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.Y173H	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	134					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.Y134H(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)					CACCATAGGATATGGTTATCG	0.438																																						uc002jin.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(400-402)TAT>CAT		potassium inwardly-rectifying channel J16							75.0	63.0	67.0					17																	68128628		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128628T>C	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.400T>C	17.37:g.68128628T>C	ENSP00000465967:p.Tyr134His					KCNJ16_uc002jio.2_Missense_Mutation_p.Y134H|KCNJ16_uc002jip.2_Missense_Mutation_p.Y134H|KCNJ16_uc002jiq.2_Missense_Mutation_p.Y166H	p.Y134H	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	886	+	Breast(10;2.96e-09)		134			Selectivity filter (By similarity).			Missense_Mutation	SNP	ENST00000589377.1	37	c.400T>C	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864611	0.51482	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.98732	-5.1;-5.1;-5.1	5.84	5.84	0.93424	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98897	1.0775	9	.	.	.	.	15.8874	0.79261	0.0:0.0:0.0:1.0	.	134;134	A8K434;Q9NPI9	.;IRK16_HUMAN	H	134	ENSP00000283936:Y134H;ENSP00000376439:Y134H;ENSP00000376438:Y134H	.	Y	+	1	0	KCNJ16	65640223	1.000000	0.71417	0.051000	0.19133	0.053000	0.15095	7.930000	0.87610	2.230000	0.72887	0.528000	0.53228	TAT		PASS	0.438	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		7	62	7	62	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74899417	74899417	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:74899417C>T	ENST00000569840.2	+	5	1052	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.P171S|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P160S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	160					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.P160S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGTGAGGCACCCAGTGACCC	0.647																																						uc002jti.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(511-513)CCC>TCC		N-acetylglucosaminyltranferase VB isoform 2							98.0	85.0	90.0					17																	74899417		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74899417C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.478C>T	17.37:g.74899417C>T	ENSP00000456037:p.Pro160Ser					MGAT5B_uc002jth.2_Missense_Mutation_p.P160S	p.P171S	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			4	614	+			160			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.511C>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.278601	0.80692	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.52057	0.69;0.68	4.49	4.49	0.54785	.	0.061927	0.64402	D	0.000003	T	0.62221	0.2410	M	0.73962	2.25	0.46701	D	0.999169	D;D	0.55385	0.971;0.971	P;P	0.55455	0.776;0.776	T	0.68209	-0.5469	10	0.72032	D	0.01	-26.0454	14.495	0.67680	0.0:1.0:0.0:0.0	.	171;160	Q3V5L5-2;Q3V5L5-5	.;.	S	160;160;171	ENSP00000301618:P160S;ENSP00000391227:P171S	ENSP00000301618:P160S	P	+	1	0	MGAT5B	72411012	0.998000	0.40836	0.897000	0.35233	0.903000	0.53119	4.525000	0.60559	2.315000	0.78130	0.651000	0.88453	CCC		PASS	0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		12	45	12	45	---	---	---	---
SGSH	6448	broad.mit.edu	37	17	78184602	78184602	+	Silent	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:78184602G>T	ENST00000326317.6	-	8	1244	c.1158C>A	c.(1156-1158)ctC>ctA	p.L386L	SGSH_ENST00000534910.1_Silent_p.L183L	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	386			L -> R (in MPS3A). {ECO:0000269|PubMed:9744479}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.L386L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTTGTGCACGAGGCGGAAGT	0.627																																						uc002jxz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1156-1158)CTC>CTA		N-sulfoglucosamine sulfohydrolase precursor							191.0	169.0	176.0					17																	78184602		2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184602G>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1158C>A	17.37:g.78184602G>T						SGSH_uc002jya.3_Silent_p.L183L|SGSH_uc002jxy.2_3'UTR	p.L386L	NM_000199	NP_000190	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1245	-	all_neural(118;0.0952)		386		L -> R (in MPS3A).			A8K5E2	Silent	SNP	ENST00000326317.6	37	c.1158C>A	CCDS11770.1																																																																																				PASS	0.627	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		4	90	4	90	---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79514423	79514423	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:79514423G>C	ENST00000327787.8	-	5	1731	c.1685C>G	c.(1684-1686)gCc>gGc	p.A562G	C17orf70_ENST00000425898.2_Missense_Mutation_p.A211G|C17orf70_ENST00000537152.1_Missense_Mutation_p.A411G			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	562					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A411G(1)|p.A562G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTAGGTGATGGCGGAGCAGGC	0.682																																						uc002kaq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1684-1686)GCC>GGC		Fanconi anemia core complex 100 kDa subunit							59.0	52.0	54.0					17																	79514423		2203	4297	6500	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514423G>C	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1685C>G	17.37:g.79514423G>C	ENSP00000333283:p.Ala562Gly					C17orf70_uc002kao.1_Missense_Mutation_p.A211G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.A411G	p.A562G	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1740	-	all_neural(118;0.0878)|Melanoma(429;0.242)		562					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1685C>G	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812193	0.50527	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.36340	1.26;1.26;1.26	4.49	4.49	0.54785	.	0.184728	0.35096	N	0.003452	T	0.33440	0.0863	L	0.45137	1.4	0.09310	N	1	B;P	0.35745	0.347;0.518	B;B	0.40477	0.135;0.33	T	0.18335	-1.0340	10	0.28530	T	0.3	.	12.0619	0.53566	0.0:0.1743:0.8257:0.0	.	562;211	Q0VG06;E7EVV8	FP100_HUMAN;.	G	562;211;411	ENSP00000333283:A562G;ENSP00000399674:A211G;ENSP00000440151:A411G	ENSP00000333283:A562G	A	-	2	0	C17orf70	77124876	0.996000	0.38824	0.008000	0.14137	0.781000	0.44180	4.561000	0.60809	2.332000	0.79248	0.561000	0.74099	GCC		PASS	0.682	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		35	33	35	33	---	---	---	---
WDR45B	56270	broad.mit.edu	37	17	80575270	80575270	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr17:80575270G>A	ENST00000392325.4	-	8	902	c.708C>T	c.(706-708)atC>atT	p.I236I	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	236								p.I236I(1)									GATTGAAGTTGATGCTGCAGA	0.502																																						uc002kfq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(706-708)ATC>ATT		WDR45-like							98.0	77.0	84.0					17																	80575270		2203	4300	6503	SO:0001819	synonymous_variant	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80575270G>A	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.708C>T	17.37:g.80575270G>A						WDR45L_uc002kfr.2_RNA	p.I236I	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		8	903	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	236			WD 2.		O95328|Q2MCP6|Q6IBN2	Silent	SNP	ENST00000392325.4	37	c.708C>T	CCDS11815.2																																																																																				PASS	0.502	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		12	30	12	30	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21427528	21427528	+	Silent	SNP	A	A	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr18:21427528A>G	ENST00000313654.9	+	32	4273	c.4032A>G	c.(4030-4032)tcA>tcG	p.S1344S	LAMA3_ENST00000399516.3_Silent_p.S1344S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1344	Domain III B.|Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S1344S(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGACACACTCATTCAGCTTCC	0.657																																						uc002kuq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4030-4032)TCA>TCG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						33.0	38.0	36.0					18																	21427528		2114	4222	6336	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21427528A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4032A>G	18.37:g.21427528A>G						LAMA3_uc002kur.2_Silent_p.S1344S	p.S1344S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			32	4118	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1344			Laminin EGF-like 10.|Domain III B.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.4032A>G	CCDS42419.1																																																																																				PASS	0.657	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		24	4	24	4	---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58038736	58038736	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr18:58038736G>T	ENST00000299766.3	-	1	1265	c.847C>A	c.(847-849)Cac>Aac	p.H283N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	283					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.H283N(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AAGTTAAAGTGAGACATGAAG	0.413																																						uc002lie.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(847-849)CAC>AAC		melanocortin 4 receptor							131.0	116.0	121.0					18																	58038736		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038736G>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.847C>A	18.37:g.58038736G>T	ENSP00000299766:p.His283Asn						p.H283N	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	1266	-		Colorectal(73;0.0946)	283			Helical; Name=7; (Potential).		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.847C>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029742	0.54790	.	.	ENSG00000166603	ENST00000299766	T	0.37058	1.22	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.47716	1.5	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.25222	-1.0138	10	0.07175	T	0.84	.	17.6572	0.88181	0.0:0.0:1.0:0.0	.	283	P32245	MC4R_HUMAN	N	283	ENSP00000299766:H283N	ENSP00000299766:H283N	H	-	1	0	MC4R	56189716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.773000	0.95371	0.655000	0.94253	CAC		PASS	0.413	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		5	73	5	73	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2137779	2137779	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:2137779A>T	ENST00000345016.5	-	3	451	c.220T>A	c.(220-222)Tgg>Agg	p.W74R	AP3D1_ENST00000350812.6_Missense_Mutation_p.W74R|AP3D1_ENST00000355272.6_Missense_Mutation_p.W74R|AP3D1_ENST00000356926.4_Missense_Mutation_p.W74R	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	74					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.W74R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		AAGGCGGCCCAGCTGATGTCG	0.522																																						uc002luz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)TGG>AGG		adaptor-related protein complex 3, delta 1							160.0	161.0	160.0					19																	2137779		2007	4176	6183	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2137779A>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.220T>A	19.37:g.2137779A>T	ENSP00000344055:p.Trp74Arg					AP3D1_uc002luy.2_Missense_Mutation_p.W74R|AP3D1_uc002lva.2_Missense_Mutation_p.W74R	p.W74R	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	443	-		Hepatocellular(1079;0.137)	74					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.220T>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322998	0.60634	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.24	5.24	0.73138	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	H	0.96301	3.8	0.36091	D	0.843443	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.81502	-0.0904	10	0.87932	D	0	-22.6548	14.2956	0.66311	1.0:0.0:0.0:0.0	.	74;74;74	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	R	74	ENSP00000349398:W74R;ENSP00000344055:W74R;ENSP00000347416:W74R;ENSP00000342321:W74R	ENSP00000341579:W74R	W	-	1	0	AP3D1	2088779	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.916000	0.92745	1.979000	0.57680	0.460000	0.39030	TGG		PASS	0.522	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			109	26	109	26	---	---	---	---
XAB2	56949	broad.mit.edu	37	19	7685168	7685168	+	Silent	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:7685168C>T	ENST00000358368.4	-	16	2296	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	XAB2_ENST00000534844.1_Silent_p.T750T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	753				SAT -> IP (in Ref. 2; AAF86951). {ECO:0000305}.	blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T750T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CACCGGTGCCCGTGGCACTGC	0.637								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)|skin(1)	4						c.(2257-2259)ACG>ACA	Direct_reversal_of_damage|NER	XPA binding protein 2							64.0	63.0	64.0					19																	7685168		2203	4300	6503	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7685168C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2259G>A	19.37:g.7685168C>T							p.T753T	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			16	2285	-			753	SAT -> IP (in Ref. 2; AAF86951).				Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.2259G>A	CCDS32892.1																																																																																				PASS	0.637	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		4	18	4	18	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9077425	9077425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:9077425C>A	ENST00000397910.4	-	3	10224	c.10021G>T	c.(10021-10023)Gga>Tga	p.G3341*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3342	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.G3341*(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						AATTCCATTCCAGTTGTCTTT	0.498																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10021-10023)GGA>TGA		mucin 16							156.0	145.0	148.0					19																	9077425		1955	4160	6115	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077425C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10021G>T	19.37:g.9077425C>A	ENSP00000381008:p.Gly3341*						p.G3341*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10225	-			3342			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.10021G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	51	18.085029	0.99899	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.89	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.2834	0.26324	0.0:1.0:0.0:0.0	.	.	.	.	X	3341	.	ENSP00000381008:G3341X	G	-	1	0	MUC16	8938425	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	0.140000	0.16056	1.356000	0.45884	0.205000	0.17691	GGA		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	167	5	167	---	---	---	---
ASNA1	439	broad.mit.edu	37	19	12856427	12856427	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:12856427G>T	ENST00000591090.1	+	5	565	c.463G>T	c.(463-465)Gtg>Ttg	p.V155L	ASNA1_ENST00000357332.3_Missense_Mutation_p.V155L					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.V155L(1)		endometrium(1)|lung(6)|ovary(3)	10						CCTCAGGCTGGTGAAGGGCAT	0.667																																						uc002muv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(463-465)GTG>TTG		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)						70.0	71.0	70.0					19																	12856427		2203	4300	6503	SO:0001583	missense	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12856427G>T	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.463G>T	19.37:g.12856427G>T	ENSP00000466379:p.Val155Leu					ASNA1_uc002muw.2_Missense_Mutation_p.V154L	p.V155L	NM_004317	NP_004308	O43681	ASNA_HUMAN			4	477	+			155						Missense_Mutation	SNP	ENST00000591090.1	37	c.463G>T	CCDS32920.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884801	0.72410	.	.	ENSG00000198356	ENST00000357332	T	0.33865	1.39	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.52011	1.625	0.80722	D	1	P;B	0.47604	0.898;0.034	P;B	0.47346	0.544;0.074	T	0.42515	-0.9447	10	0.59425	D	0.04	-38.2276	16.7241	0.85417	0.0:0.0:1.0:0.0	.	137;155	E7EVN0;O43681	.;ASNA_HUMAN	L	155	ENSP00000349887:V155L	ENSP00000349887:V155L	V	+	1	0	ASNA1	12717427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.937000	0.92936	2.233000	0.73108	0.655000	0.94253	GTG		PASS	0.667	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		38	14	38	14	---	---	---	---
SYNE4	163183	broad.mit.edu	37	19	36494565	36494565	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:36494565C>G	ENST00000324444.3	-	7	1092	c.981G>C	c.(979-981)aaG>aaC	p.K327N	SYNE4_ENST00000340477.5_Missense_Mutation_p.K214N	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	327					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)		p.K327N(1)									ATGCTTGCCTCTTCTTGTCCT	0.517																																						uc002ocq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(979-981)AAG>AAC		hypothetical protein LOC163183							56.0	60.0	59.0					19																	36494565		1979	4168	6147	SO:0001583	missense	163183				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding	g.chr19:36494565C>G	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.981G>C	19.37:g.36494565C>G	ENSP00000316130:p.Lys327Asn					C19orf46_uc002ocr.1_Missense_Mutation_p.E268Q|C19orf46_uc002ocs.1_Missense_Mutation_p.K214N|C19orf46_uc010een.1_Missense_Mutation_p.K242N	p.K327N	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	1070	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		327			Cytoplasmic (Potential).		A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	c.981G>C	CCDS42553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.47|10.47	1.359821|1.359821	0.24598|0.24598	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000490730|ENST00000340477;ENST00000324444	T|T;T	0.46063|0.35421	0.88|1.31;1.32	4.79|4.79	3.76|3.76	0.43208|0.43208	.|.	.|0.899768	.|0.09013	.|U	.|0.861288	T|T	0.44767|0.44767	0.1309|0.1309	L|L	0.29908|0.29908	0.895|0.895	0.44880|0.44880	D|D	0.997891|0.997891	D|D;P	0.57257|0.67145	0.979|0.996;0.952	P|D;P	0.50617|0.64410	0.646|0.925;0.601	T|T	0.19063|0.19063	-1.0317|-1.0317	9|10	0.66056|0.48119	D|T	0.02|0.1	-9.5505|-9.5505	8.9352|8.9352	0.35695|0.35695	0.0:0.9022:0.0:0.0978|0.0:0.9022:0.0:0.0978	.|.	268|214;327	D6RAE3|Q8N205-2;Q8N205	.|.;SYNE4_HUMAN	Q|N	268|214;327	ENSP00000422716:E268Q|ENSP00000343152:K214N;ENSP00000316130:K327N	ENSP00000422716:E268Q|ENSP00000316130:K327N	E|K	-|-	1|3	0|2	C19orf46|C19orf46	41186405|41186405	0.972000|0.972000	0.33761|0.33761	0.995000|0.995000	0.50966|0.50966	0.931000|0.931000	0.56810|0.56810	0.548000|0.548000	0.23314|0.23314	1.631000|1.631000	0.50456|0.50456	0.655000|0.655000	0.94253|0.94253	GAG|AAG		PASS	0.517	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		4	22	4	22	---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37440987	37440987	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:37440987G>C	ENST00000333987.7	+	7	1438	c.932G>C	c.(931-933)tGt>tCt	p.C311S	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.C247S|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	311					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.C311S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAAGGATTGTTGGAAAGCC	0.383																																						uc002ofc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(931-933)TGT>TCT		zinc finger protein 568							39.0	43.0	41.0					19																	37440987		2192	4291	6483	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440987G>C	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.932G>C	19.37:g.37440987G>C	ENSP00000334685:p.Cys311Ser					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C235S|ZNF568_uc010efe.2_Missense_Mutation_p.C235S|ZNF568_uc010eff.1_Intron	p.C311S	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	1447	+	Esophageal squamous(110;0.183)		311			C2H2-type 4.		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.932G>C	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838766	0.71373	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	D;D	0.85861	-2.04;-2.04	3.95	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001212	D	0.94215	0.8143	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95599	0.8661	10	0.87932	D	0	.	13.8795	0.63674	0.0:0.0:1.0:0.0	.	311	Q3ZCX4	ZN568_HUMAN	S	311;247	ENSP00000334685:C311S;ENSP00000394514:C247S	ENSP00000334685:C311S	C	+	2	0	ZNF568	42132827	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	6.071000	0.71229	2.187000	0.69744	0.655000	0.94253	TGT		PASS	0.383	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		11	31	11	31	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39108208	39108208	+	Splice_Site	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:39108208C>T	ENST00000591517.1	-	2	185	c.157G>A	c.(157-159)Gat>Aat	p.D53N	EIF3K_ENST00000588934.1_5'Flank|EIF3K_ENST00000248342.4_5'Flank|EIF3K_ENST00000592558.1_5'Flank|EIF3K_ENST00000593149.1_5'Flank|EIF3K_ENST00000538434.1_5'Flank|MAP4K1_ENST00000586296.1_Splice_Site_p.D53N|MAP4K1_ENST00000589130.1_Splice_Site_p.D49N|EIF3K_ENST00000545173.2_5'Flank|MAP4K1_ENST00000396857.2_Splice_Site_p.D53N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	53	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.D53N(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)			CCCTCCTCACCAGGCTCCATC	0.602																																						uc002oix.1																			2	Substitution - Missense(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(157-159)GAT>AAT		mitogen-activated protein kinase kinase kinase							83.0	97.0	93.0					19																	39108208		2156	4250	6406	SO:0001630	splice_region_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39108208C>T	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.157+1G>A	19.37:g.39108208C>T						MAP4K1_uc002oiy.1_Missense_Mutation_p.D53N|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank	p.D53N	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	265	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		53			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.157G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607000	0.87157	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.64618	-0.11	3.77	3.77	0.43336	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.152498	0.41712	D	0.000822	T	0.68274	0.2983	L	0.41710	1.295	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.79784	0.993;0.982	T	0.66548	-0.5896	9	.	.	.	.	11.1048	0.48197	0.0:1.0:0.0:0.0	.	53;53	Q92918-2;Q92918	.;M4K1_HUMAN	N	53	ENSP00000380066:D53N	.	D	-	1	0	MAP4K1	43800048	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.620000	0.67736	1.651000	0.50673	0.404000	0.27445	GAT		PASS	0.602	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	Missense_Mutation	10	26	10	26	---	---	---	---
CEACAM6	4680	broad.mit.edu	37	19	42265295	42265295	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:42265295G>C	ENST00000199764.6	+	3	781	c.563G>C	c.(562-564)aGt>aCt	p.S188T	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	188	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S188T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTCCCGGTCAGTCCCAGGCTG	0.537																																						uc002orm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)AGT>ACT		carcinoembryonic antigen-related cell adhesion							225.0	201.0	209.0					19																	42265295		2203	4299	6502	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42265295G>C	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.563G>C	19.37:g.42265295G>C	ENSP00000199764:p.Ser188Thr						p.S188T	NM_002483	NP_002474	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	3	712	+			188			Ig-like C2-type 1.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.563G>C	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653338	0.14580	.	.	ENSG00000086548	ENST00000199764	T	0.03242	4.0	2.02	0.874	0.19124	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09774	0.0240	L	0.58583	1.82	0.09310	N	1	D	0.71674	0.998	D	0.91635	0.999	T	0.26326	-1.0106	9	0.11182	T	0.66	.	6.2371	0.20768	0.0:0.3185:0.6815:0.0	.	188	P40199	CEAM6_HUMAN	T	188	ENSP00000199764:S188T	ENSP00000199764:S188T	S	+	2	0	CEACAM6	46957135	0.003000	0.15002	0.003000	0.11579	0.102000	0.19082	0.510000	0.22723	0.154000	0.19237	0.305000	0.20034	AGT		PASS	0.537	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			87	204	87	204	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44515453	44515453	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr19:44515453A>G	ENST00000429154.2	+	5	1490	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	421					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.K421R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAACCCTTCAAATGTGAGGAT	0.438																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)AAA>AGA		zinc finger protein 230							67.0	73.0	71.0					19																	44515453		2200	4297	6497	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515453A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1262A>G	19.37:g.44515453A>G	ENSP00000409318:p.Lys421Arg						p.K421R	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1513	+		Prostate(69;0.0352)	421			C2H2-type 10; atypical.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1262A>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289827	0.40494	.	.	ENSG00000159882	ENST00000429154	T	0.07444	3.19	2.55	1.5	0.22942	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	L	0.52364	1.645	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.34576	-0.9823	9	0.72032	D	0.01	.	3.7004	0.08380	0.6446:0.2221:0.1334:0.0	.	421	Q9UIE0	ZN230_HUMAN	R	421	ENSP00000409318:K421R	ENSP00000409318:K421R	K	+	2	0	ZNF230	49207293	0.000000	0.05858	0.002000	0.10522	0.869000	0.49853	-1.127000	0.03251	0.210000	0.20664	0.172000	0.16884	AAA		PASS	0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			47	21	47	21	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2384287	2384287	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr20:2384287C>A	ENST00000202625.2	+	9	1215	c.1154C>A	c.(1153-1155)gCt>gAt	p.A385D	TGM6_ENST00000381423.1_Missense_Mutation_p.A385D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	385					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A385D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTGCACCTGGCTCACGATGGC	0.622																																						uc002wfy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1153-1155)GCT>GAT		transglutaminase 6	L-Glutamine(DB00130)						107.0	88.0	95.0					20																	2384287		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384287C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1154C>A	20.37:g.2384287C>A	ENSP00000202625:p.Ala385Asp					TGM6_uc010gal.1_Missense_Mutation_p.A385D	p.A385D	NM_198994	NP_945345	O95932	TGM3L_HUMAN			9	1215	+			385					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1154C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	2.166	-0.391018	0.04932	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.95447	-3.71;-3.71	4.9	3.96	0.45880	.	0.323097	0.34531	N	0.003888	D	0.85669	0.5750	N	0.12611	0.24	0.30217	N	0.797193	B;B	0.18741	0.03;0.006	B;B	0.15870	0.014;0.003	T	0.74842	-0.3527	10	0.02654	T	1	-32.9049	6.6389	0.22899	0.1751:0.7345:0.0:0.0904	.	385;385	O95932-2;O95932	.;TGM3L_HUMAN	D	385	ENSP00000202625:A385D;ENSP00000370831:A385D	ENSP00000202625:A385D	A	+	2	0	TGM6	2332287	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.085000	0.50151	1.454000	0.47793	0.549000	0.68633	GCT		PASS	0.622	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		31	45	31	45	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50406807	50406807	+	Missense_Mutation	SNP	C	C	T	rs41274696	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr20:50406807C>T	ENST00000217086.4	-	2	2326	c.2215G>A	c.(2215-2217)Gcc>Acc	p.A739T	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	739					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A739T(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTAAAAGGGGCAGGACCCACT	0.592																																						uc002xwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2215-2217)GCC>ACC		sal-like 4							50.0	45.0	46.0					20																	50406807		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406807C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2215G>A	20.37:g.50406807C>T	ENSP00000217086:p.Ala739Thr					SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.A739T	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	2316	-			739					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2215G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	6.930	0.541365	0.13250	.	.	ENSG00000101115	ENST00000217086	T	0.08720	3.06	5.54	-0.135	0.13477	.	0.344504	0.21307	N	0.076718	T	0.05410	0.0143	L	0.43152	1.355	0.41749	D	0.989654	B	0.06786	0.001	B	0.06405	0.002	T	0.38329	-0.9666	10	0.32370	T	0.25	-4.2469	0.6228	0.00781	0.35:0.2933:0.1359:0.2208	.	739	Q9UJQ4	SALL4_HUMAN	T	739	ENSP00000217086:A739T	ENSP00000217086:A739T	A	-	1	0	SALL4	49840214	0.232000	0.23762	0.007000	0.13788	0.245000	0.25701	1.302000	0.33459	0.032000	0.15435	-0.314000	0.08810	GCC		PASS	0.592	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	20	7	20	---	---	---	---
OGFR	11054	broad.mit.edu	37	20	61444873	61444873	+	Nonsense_Mutation	SNP	G	G	T	rs141833389	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr20:61444873G>T	ENST00000290291.6	+	7	1931	c.1906G>T	c.(1906-1908)Gag>Tag	p.E636*	OGFR_ENST00000370461.1_Nonsense_Mutation_p.E584*	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	636	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.E636*(1)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CGAGCCAGCCGAGAGCCCATC	0.731																																						uc002ydj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1906-1908)GAG>TAG		opioid growth factor receptor							12.0	15.0	14.0					20																	61444873		2113	4214	6327	SO:0001587	stop_gained	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444873G>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1906G>T	20.37:g.61444873G>T	ENSP00000290291:p.Glu636*					OGFR_uc002ydk.2_Nonsense_Mutation_p.E619*|OGFR_uc002ydl.2_Nonsense_Mutation_p.E584*|uc011aam.1_Silent_p.R4R	p.E636*	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN			7	1941	+	Breast(26;3.65e-08)		636			6.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Nonsense_Mutation	SNP	ENST00000290291.6	37	c.1906G>T	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	52	19.946776	0.99925	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	.	.	.	1.45	0.151	0.14888	.	.	.	.	.	.	.	.	.	.	.	0.49798	D	0.999828	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.2972	0.26399	0.174:0.0:0.826:0.0	.	.	.	.	X	636;616;471;584	.	ENSP00000290291:E636X	E	+	1	0	OGFR	60915318	0.000000	0.05858	0.029000	0.17559	0.033000	0.12548	0.144000	0.16135	-0.136000	0.11475	0.089000	0.15464	GAG		PASS	0.731	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			6	6	6	6	---	---	---	---
KRTAP6-2	337967	broad.mit.edu	37	21	31971186	31971186	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr21:31971186C>A	ENST00000334897.3	-	1	33	c.8G>T	c.(7-9)gGc>gTc	p.G3V	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	3						intermediate filament (GO:0005882)		p.G3V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GTAGTAGCTGCCGCACATCGT	0.522																																						uc011adc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GGC>GTC		keratin associated protein 6-2							191.0	159.0	170.0					21																	31971186		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971186C>A	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.8G>T	21.37:g.31971186C>A	ENSP00000334560:p.Gly3Val					KRTAP22-1_uc011add.1_5'Flank	p.G3V	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN			1	8	-			3						Missense_Mutation	SNP	ENST00000334897.3	37	c.8G>T	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676526	0.29783	.	.	ENSG00000186930	ENST00000334897	T	0.55234	0.53	4.38	4.38	0.52667	.	0.478843	0.15810	U	0.243516	T	0.69405	0.3107	.	.	.	0.40987	D	0.984821	D	0.67145	0.996	D	0.65323	0.934	T	0.72374	-0.4313	9	0.87932	D	0	.	12.742	0.57257	0.0:1.0:0.0:0.0	.	3	Q3LI66	KRA62_HUMAN	V	3	ENSP00000334560:G3V	ENSP00000334560:G3V	G	-	2	0	KRTAP6-2	30893057	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.451000	0.35145	2.740000	0.93945	0.650000	0.86243	GGC		PASS	0.522	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			21	31	21	31	---	---	---	---
GAL3ST1	9514	broad.mit.edu	37	22	30951444	30951444	+	Silent	SNP	G	G	A	rs35962480		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr22:30951444G>A	ENST00000402321.1	-	3	1085	c.768C>T	c.(766-768)gaC>gaT	p.D256D	GAL3ST1_ENST00000401975.1_Silent_p.D256D|GAL3ST1_ENST00000338911.5_Silent_p.D256D|GAL3ST1_ENST00000443111.2_Silent_p.D256D|GAL3ST1_ENST00000406361.1_Silent_p.D256D|GAL3ST1_ENST00000406955.1_Silent_p.D256D|GAL3ST1_ENST00000402369.1_Silent_p.D256D			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	256					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.D256D(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCAGCGACTCGTCGAAGTACT	0.642																																						uc003aig.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)GAC>GAT		galactose-3-O-sulfotransferase 1							81.0	81.0	81.0					22																	30951444		2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951444G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.768C>T	22.37:g.30951444G>A						GAL3ST1_uc003aih.1_Silent_p.D256D|GAL3ST1_uc003aii.1_Silent_p.D256D|GAL3ST1_uc010gvz.1_Silent_p.D256D	p.D256D	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	908	-			256			Lumenal (Potential).		Q96C63	Silent	SNP	ENST00000402321.1	37	c.768C>T	CCDS13879.1																																																																																				PASS	0.642	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	135	6	135	---	---	---	---
GAL3ST1	9514	broad.mit.edu	37	22	30951744	30951744	+	Silent	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr22:30951744G>A	ENST00000402321.1	-	3	785	c.468C>T	c.(466-468)aaC>aaT	p.N156N	GAL3ST1_ENST00000401975.1_Silent_p.N156N|GAL3ST1_ENST00000338911.5_Silent_p.N156N|GAL3ST1_ENST00000443111.2_Silent_p.N156N|GAL3ST1_ENST00000406361.1_Silent_p.N156N|GAL3ST1_ENST00000406955.1_Silent_p.N156N|GAL3ST1_ENST00000402369.1_Silent_p.N156N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	156					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.N156N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGAAGATGGCGTTGGTCGGCA	0.657																																						uc003aig.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)AAC>AAT		galactose-3-O-sulfotransferase 1							79.0	83.0	82.0					22																	30951744		2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951744G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.468C>T	22.37:g.30951744G>A						GAL3ST1_uc003aih.1_Silent_p.N156N|GAL3ST1_uc003aii.1_Silent_p.N156N|GAL3ST1_uc010gvz.1_Silent_p.N156N	p.N156N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	608	-			156			Lumenal (Potential).		Q96C63	Silent	SNP	ENST00000402321.1	37	c.468C>T	CCDS13879.1																																																																																				PASS	0.657	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		31	51	31	51	---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31674411	31674411	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr22:31674411G>T	ENST00000331728.4	+	16	2015	c.1901G>T	c.(1900-1902)cGg>cTg	p.R634L	LIMK2_ENST00000333611.4_Missense_Mutation_p.R613L|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000444929.2_Missense_Mutation_p.R388L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	634					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R634L(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGCCTGACCCGGGACTCACCT	0.662																																						uc003akh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1900-1902)CGG>CTG		LIM domain kinase 2 isoform 2a							83.0	89.0	87.0					22																	31674411		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31674411G>T	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1901G>T	22.37:g.31674411G>T	ENSP00000332687:p.Arg634Leu					LIMK2_uc003aki.2_Missense_Mutation_p.R388L|LIMK2_uc003akk.2_Missense_Mutation_p.R613L|LIMK2_uc011aln.1_Missense_Mutation_p.R551L	p.R634L	NM_005569	NP_005560	P53671	LIMK2_HUMAN			16	2046	+			634					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1901G>T	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	27.0	4.789315	0.90367	.	.	ENSG00000182541	ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611	T;T;T	0.74106	-0.81;-0.71;-0.77	5.37	5.37	0.77165	.	.	.	.	.	T	0.82226	0.4991	M	0.63428	1.95	0.42692	D	0.993586	D;P;P	0.57257	0.979;0.649;0.906	P;B;P	0.56343	0.796;0.253;0.492	D	0.84384	0.0551	9	0.72032	D	0.01	.	18.0911	0.89476	0.0:0.0:1.0:0.0	.	666;388;634	F5GY29;E7EUC1;P53671	.;.;LIMK2_HUMAN	L	388;634;666;613	ENSP00000409522:R388L;ENSP00000332687:R634L;ENSP00000330470:R613L	ENSP00000332687:R634L	R	+	2	0	LIMK2	30004411	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	2.501000	0.84356	0.563000	0.77884	CGG		PASS	0.662	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		59	83	59	83	---	---	---	---
CDC42EP1	11135	broad.mit.edu	37	22	37964144	37964144	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr22:37964144C>T	ENST00000249014.4	+	3	913	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	165					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R165C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CACCATCTCCCGCCTGCCCCG	0.632																																						uc003asz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)CGC>TGC		CDC42 effector protein 1							80.0	91.0	87.0					22																	37964144		2203	4300	6503	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37964144C>T	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.493C>T	22.37:g.37964144C>T	ENSP00000249014:p.Arg165Cys						p.R165C	NM_152243	NP_689449	Q00587	BORG5_HUMAN			3	896	+	Melanoma(58;0.0574)		165					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.493C>T	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809198	0.70797	.	.	ENSG00000128283	ENST00000249014	T	0.31510	1.49	5.01	3.92	0.45320	.	0.071709	0.56097	D	0.000033	T	0.49372	0.1553	L	0.60455	1.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	T	0.51466	-0.8702	10	0.62326	D	0.03	-21.4052	13.8171	0.63299	0.1538:0.8462:0.0:0.0	.	165	Q00587	BORG5_HUMAN	C	165	ENSP00000249014:R165C	ENSP00000249014:R165C	R	+	1	0	CDC42EP1	36294090	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.722000	0.54948	2.316000	0.78162	0.462000	0.41574	CGC		PASS	0.632	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		53	80	53	80	---	---	---	---
APOBEC3A	200315	broad.mit.edu	37	22	39357613	39357613	+	Silent	SNP	C	C	T	rs141631289		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr22:39357613C>T	ENST00000402255.1	+	4	600	c.396C>T	c.(394-396)taC>taT	p.Y132Y	APOBEC3A_ENST00000249116.2_Silent_p.Y132Y			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	132					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)	p.Y132Y(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TCTATGATTACGACCCCCTAT	0.572																																						uc003awn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(394-396)TAC>TAT		phorbolin 1		C		1,4245		0,1,2122	59.0	66.0	64.0		396	-0.6	0.0	22	dbSNP_134	64	2,8136		0,2,4067	no	coding-synonymous	APOBEC3A	NM_145699.3		0,3,6189	TT,TC,CC		0.0246,0.0236,0.0242		132/200	39357613	3,12381	2123	4069	6192	SO:0001819	synonymous_variant	200315				cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39357613C>T	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"""Apolipoprotein B mRNA editing enzymes"""	17343	protein-coding gene	gene with protein product	"""phorbolin I"""	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.396C>T	22.37:g.39357613C>T						APOBEC3A_uc011aob.1_Silent_p.Y114Y|APOBEC3A_uc011aoc.1_Silent_p.Y132Y	p.Y132Y	NM_145699	NP_663745	P31941	ABC3A_HUMAN			3	566	+	Melanoma(58;0.04)		132					A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	c.396C>T	CCDS13981.1																																																																																				PASS	0.572	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699		8	107	8	107	---	---	---	---
RBX1	9978	broad.mit.edu	37	22	41349630	41349630	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr22:41349630G>A	ENST00000216225.8	+	2	190	c.150G>A	c.(148-150)atG>atA	p.M50I	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	50					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M50I(1)		large_intestine(1)|lung(3)|skin(1)	5						ACCACATTATGGATCTTTGTA	0.458																																						uc003azk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(148-150)ATG>ATA		ring-box 1							205.0	179.0	188.0					22																	41349630		2203	4300	6503	SO:0001583	missense	9978				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding	g.chr22:41349630G>A	AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"""RING-type (C3HC4) zinc fingers"""	9928	protein-coding gene	gene with protein product	"""regulator of cullins 1"""	603814	"""ring-box 1"""			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.150G>A	22.37:g.41349630G>A	ENSP00000216225:p.Met50Ile					XPNPEP3_uc011aoy.1_RNA	p.M50I	NM_014248	NP_055063	P62877	RBX1_HUMAN			2	168	+			50					B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	c.150G>A	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332760	0.95733	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, RING-H2-type (1);	0.039462	0.85682	D	0.000000	D	0.84575	0.5502	M	0.87547	2.89	0.80722	D	1	D	0.62365	0.991	D	0.70487	0.969	D	0.86560	0.1840	9	0.87932	D	0	.	18.8188	0.92088	0.0:0.0:1.0:0.0	.	50	P62877	RBX1_HUMAN	I	50	.	ENSP00000216225:M50I	M	+	3	0	RBX1	39679576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.202000	0.95026	2.722000	0.93159	0.655000	0.94253	ATG		PASS	0.458	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		18	71	18	71	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42608247	42608247	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr22:42608247C>T	ENST00000359486.3	-	1	3201	c.3065G>A	c.(3064-3066)cGg>cAg	p.R1022Q	TCF20_ENST00000335626.4_Missense_Mutation_p.R1022Q|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1022					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1022Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCTCTGCTCCGCCCAGGAGA	0.547																																						uc003bcj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3064-3066)CGG>CAG		transcription factor 20 isoform 1							50.0	52.0	51.0					22																	42608247		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608247C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3065G>A	22.37:g.42608247C>T	ENSP00000352463:p.Arg1022Gln					TCF20_uc003bck.1_Missense_Mutation_p.R1022Q|TCF20_uc003bnt.2_Missense_Mutation_p.R1022Q	p.R1022Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	3199	-			1022					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3065G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066952	0.93898	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.69435	-0.4;-0.4	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.73877	0.3643	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.978	T	0.74589	-0.3615	10	0.51188	T	0.08	-22.7994	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1022;1022	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Q	1022	ENSP00000352463:R1022Q;ENSP00000335561:R1022Q	ENSP00000335561:R1022Q	R	-	2	0	TCF20	40938191	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	5.311000	0.65786	2.804000	0.96469	0.655000	0.94253	CGG		PASS	0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		14	37	14	37	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35974179	35974179	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chrX:35974179A>C	ENST00000297866.5	+	8	1342	c.1276A>C	c.(1276-1278)Atg>Ctg	p.M426L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	426								p.M426L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACCTTGTTTCATGGGTGAACG	0.363																																						uc004ddj.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1276-1278)ATG>CTG		hypothetical protein LOC170063							81.0	76.0	78.0					X																	35974179		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35974179A>C	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1276A>C	X.37:g.35974179A>C	ENSP00000297866:p.Met426Leu					CXorf22_uc010ngv.2_RNA	p.M426L	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			8	1335	+			426					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1276A>C	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	0.118	-1.128822	0.01756	.	.	ENSG00000165164	ENST00000297866	T	0.57595	0.39	5.14	-4.42	0.03579	.	0.715691	0.14948	N	0.289065	T	0.30823	0.0777	L	0.55103	1.725	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.44817	-0.9303	10	0.06625	T	0.88	-14.1028	0.5586	0.00675	0.313:0.2093:0.2707:0.207	.	426	Q6ZTR5	CX022_HUMAN	L	426	ENSP00000297866:M426L	ENSP00000297866:M426L	M	+	1	0	CXorf22	35884100	0.015000	0.18098	0.002000	0.10522	0.004000	0.04260	0.150000	0.16263	-1.230000	0.02561	-2.179000	0.00317	ATG		PASS	0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		18	19	18	19	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64749609	64749609	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chrX:64749609T>C	ENST00000374811.3	-	5	704	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	LAS1L_ENST00000312391.8_Missense_Mutation_p.I222V|LAS1L_ENST00000374804.5_Missense_Mutation_p.I180V|LAS1L_ENST00000374807.5_Missense_Mutation_p.I222V	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	222					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I222V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TGTTCTGTGATGTCATCAACA	0.488																																						uc004dwa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(664-666)ATC>GTC		LAS1-like							255.0	212.0	226.0					X																	64749609		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64749609T>C	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.664A>G	X.37:g.64749609T>C	ENSP00000363944:p.Ile222Val					LAS1L_uc004dwc.1_Missense_Mutation_p.I222V|LAS1L_uc004dwd.1_Missense_Mutation_p.I180V	p.I222V	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			5	736	-			222					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.664A>G	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.822806	0.00589	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.4	-1.24	0.09435	.	0.830462	0.10773	N	0.635746	T	0.19446	0.0467	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.30357	-0.9981	9	0.11485	T	0.65	.	8.8605	0.35253	0.0:0.4834:0.0:0.5166	.	180;222;222	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	V	222;222;180;222	.	ENSP00000308649:I222V	I	-	1	0	LAS1L	64666334	0.015000	0.18098	0.001000	0.08648	0.024000	0.10985	0.086000	0.14935	-0.269000	0.09298	-0.323000	0.08544	ATC		PASS	0.488	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		46	11	46	11	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100117753	100117753	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chrX:100117753C>T	ENST00000372966.3	-	5	599	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	NOX1_ENST00000372964.1_Missense_Mutation_p.A132T|NOX1_ENST00000217885.5_Missense_Mutation_p.A132T|NOX1_ENST00000372960.4_Missense_Mutation_p.A95T	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	132	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.A132T(2)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCATCTGTGGCCTGTCGGCTT	0.463																																						uc004egj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(394-396)GCC>ACC		NADPH oxidase 1 isoform long							148.0	148.0	148.0					X																	100117753		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117753C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.394G>A	X.37:g.100117753C>T	ENSP00000362057:p.Ala132Thr					uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.A132T|NOX1_uc010nne.2_Missense_Mutation_p.A95T	p.A132T	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			5	600	-			132			Extracellular (Potential).|Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.394G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	6.186	0.402451	0.11696	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885;ENST00000372960	D;D;D;D	0.99098	-3.76;-5.42;-3.84;-3.83	4.46	3.55	0.40652	Flavoprotein transmembrane component (1);	0.601209	0.16749	N	0.201107	D	0.96522	0.8865	L	0.34521	1.04	0.09310	N	1	P;B;B	0.35493	0.505;0.014;0.254	B;B;B	0.39738	0.308;0.026;0.102	D	0.92483	0.5994	10	0.23302	T	0.38	-0.5815	6.4258	0.21768	0.0:0.7131:0.1841:0.1028	.	95;132;132	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	T	132;132;132;132;95	ENSP00000362057:A132T;ENSP00000362055:A132T;ENSP00000217885:A132T;ENSP00000362051:A95T	ENSP00000217885:A132T	A	-	1	0	NOX1	100004409	0.006000	0.16342	0.193000	0.23327	0.766000	0.43426	1.329000	0.33770	0.961000	0.38030	0.600000	0.82982	GCC		PASS	0.463	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		56	70	56	70	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107834432	107834432	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chrX:107834432C>T	ENST00000361603.2	+	20	1554	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	COL4A5_ENST00000328300.6_Missense_Mutation_p.P437L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	437	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.P437L(1)		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						CCAGGGCCTCCTGGCCCTGCT	0.468									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1309-1311)CCT>CTT		type IV collagen alpha 5 isoform 2 precursor							64.0	71.0	69.0					X																	107834432		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834432C>T	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.1310C>T	X.37:g.107834432C>T	ENSP00000354505:p.Pro437Leu					COL4A5_uc011mso.1_Missense_Mutation_p.P437L|COL4A5_uc004eob.1_Missense_Mutation_p.P45L	p.P437L	NM_033380	NP_203699	P29400	CO4A5_HUMAN			20	1512	+			437			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1310C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	c	19.04	3.750815	0.69533	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94000	-3.33;-3.33	5.14	5.14	0.70334	.	0.061582	0.64402	D	0.000004	D	0.97204	0.9086	M	0.88377	2.95	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	0.97740	1.0208	10	0.56958	D	0.05	.	17.8133	0.88623	0.0:1.0:0.0:0.0	.	437;45;437	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	L	437	ENSP00000331902:P437L;ENSP00000354505:P437L	ENSP00000331902:P437L	P	+	2	0	COL4A5	107721088	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.316000	0.65815	2.140000	0.66376	0.540000	0.68198	CCT		PASS	0.468	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			33	10	33	10	---	---	---	---
AKAP14	158798	broad.mit.edu	37	X	119048814	119048814	+	Silent	SNP	C	C	A			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chrX:119048814C>A	ENST00000371431.3	+	5	688	c.414C>A	c.(412-414)acC>acA	p.T138T	AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	138					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.T138T(1)		endometrium(4)|large_intestine(1)|lung(8)	13						CCTACTTCACCATGAAGGTCT	0.443																																						uc004ese.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)ACC>ACA		A kinase (PRKA) anchor protein 14 isoform a							214.0	167.0	183.0					X																	119048814		2203	4300	6503	SO:0001819	synonymous_variant	158798					cytoplasm		g.chrX:119048814C>A	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.414C>A	X.37:g.119048814C>A						AKAP14_uc004esf.2_Intron	p.T138T	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN			5	552	+			138					A6NNZ0|Q86UN4|Q86UN5	Silent	SNP	ENST00000371431.3	37	c.414C>A	CCDS14591.1																																																																																				PASS	0.443	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		6	123	6	123	---	---	---	---
RP11-451O13.1	0	broad.mit.edu	37	1	157918376	157918376	+	RNA	DEL	G	G	-	rs3832020	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr1:157918376delG	ENST00000452528.1	+	0	556																											CCTGCCAGAAGCACCATACAG	0.517											OREG0013904	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|G|-|deletion	1036	0.206869	0.202	0.1542	5008	,	,		21253	0.0863		0.3171	False		,,,				2504	0.2618					uc001frl.1																			0													Homo sapiens cDNA FLJ32876 fis, clone TESTI2004073.																																						0							g.chr1:157918376delG																													1.37:g.157918376delG			OREG0013904	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1789									4		+									RNA	DEL	ENST00000452528.1	37	c.556delG																																																																																						0.517	RP11-451O13.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432264.1			4	6	4	6	---	---	---	---
LOC101929607	101929607	broad.mit.edu	37	3	107182708	107182708	+	lincRNA	DEL	C	C	-			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:107182708delC	ENST00000609293.1	+	0	1436																											AGCAAAACAGCCAAGCCTTTT	0.358																																						uc003dwj.2																			0													Homo sapiens cDNA clone IMAGE:5312582.																																						0							g.chr3:107182708delC																													3.37:g.107182708delC														3		+									RNA	DEL	ENST00000609293.1	37	c.1436delC																																																																																						0.358	RP11-115H18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471598.1			4	2	4	2	---	---	---	---
VWA5B2	90113	broad.mit.edu	37	3	183955104	183955105	+	Frame_Shift_Ins	INS	-	-	C			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr3:183955104_183955105insC	ENST00000426955.2	+	11	1724_1725	c.1624_1625insC	c.(1624-1626)accfs	p.T542fs	VWA5B2_ENST00000273794.5_Frame_Shift_Ins_p.T323fs|EIF2B5_ENST00000444495.1_Intron	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	553										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						GGCACTGCTGACCCCCCGGGAG	0.629																																						uc011bra.1																			0					0						c.(1624-1626)ACCfs		von Willebrand factor A domain containing 5B2																																				SO:0001589	frameshift_variant	90113							g.chr3:183955104_183955105insC		CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.1630dupC	3.37:g.183955110_183955110dupC	ENSP00000398688:p.Thr542fs					VWA5B2_uc011brb.1_Frame_Shift_Ins_p.T323fs|VWA5B2_uc003fnd.2_Frame_Shift_Ins_p.T262fs	p.T542fs	NM_138345	NP_612354	B9EGN7	B9EGN7_HUMAN			11	1624_1625	+			542					B9EGN7	Frame_Shift_Ins	INS	ENST00000426955.2	37	c.1624_1625insC	CCDS54686.1																																																																																					0.629	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346004.2	XM_291077		7	25	7	25	---	---	---	---
GAK	2580	broad.mit.edu	37	4	898493	898495	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr4:898493_898495delAGA	ENST00000314167.4	-	5	565_567	c.455_457delTCT	c.(454-459)ttctac>tac	p.F152del	GAK_ENST00000511163.1_In_Frame_Del_p.F73del	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACGTCTGGTAGAAGATCTTCAG	0.567																																						uc003gbm.3																			0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(454-459)TTCTAC>TAC		cyclin G associated kinase																																				SO:0001651	inframe_deletion	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:898493_898495delAGA	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.455_457delTCT	4.37:g.898496_898498delAGA	ENSP00000314499:p.Phe152del					GAK_uc003gbn.3_In_Frame_Del_p.F73del|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_In_Frame_Del_p.F16del	p.F152del	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	5	654_656	-			152			Protein kinase.		Q5U4P5|Q9BVY6	In_Frame_Del	DEL	ENST00000314167.4	37	c.455_457delTCT	CCDS3340.1																																																																																					0.567	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		11	16	11	16	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1538685	1538687	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr7:1538685_1538687delTGA	ENST00000404767.3	-	8	1146_1148	c.1061_1063delTCA	c.(1060-1065)ctcacc>ccc	p.354_355LT>P	INTS1_ENST00000389470.4_In_Frame_Del_p.482_483LT>P|INTS1_ENST00000493531.1_5'Flank	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)				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)		CAGGTGGAGGTGAGGAGCCGCAG	0.68																																						uc003skn.2																			0					0						c.(1060-1065)CTCACC>CCC		integrator complex subunit 1																																				SO:0001651	inframe_deletion	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538685_1538687delTGA	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.1061_1063delTCA	7.37:g.1538685_1538687delTGA	ENSP00000385722:p.Leu354_Thr355delinsPro					INTS1_uc003skq.2_In_Frame_Del_p.354_355LT>P	p.354_355LT>P	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	8	1162_1164	-		Ovarian(82;0.0253)	354_355					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	In_Frame_Del	DEL	ENST00000404767.3	37	c.1061_1063delTCA	CCDS47526.1																																																																																					0.680	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			3	3	3	3	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68412348	68412348	+	lincRNA	DEL	A	A	-	rs146411050		TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:68412348delA	ENST00000417843.2	-	0	0				MIR4477B_ENST00000581659.1_RNA																							GAGGGCAAAGAAACGTGGAAT	0.552																																						uc004aew.1																			0													Homo sapiens cDNA, FLJ98602.																																						0							g.chr9:68412348delA																													9.37:g.68412348delA						uc004aex.2_5'Flank								2		+									RNA	DEL	ENST00000417843.2	37	c.510delA																																																																																						0.552	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			8	5	8	5	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133961063	133961065	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr9:133961063_133961065delAAG	ENST00000361069.4	+	25	4316_4318	c.4183_4185delAAG	c.(4183-4185)aagdel	p.K1397del	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1397	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)			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)		CTCCAGTGCCAAGAAGAAGGGCA	0.616																																						uc004caa.1																			0				ovary(2)|pancreas(1)	3						c.(4183-4185)AAGdel		laminin, gamma 3 precursor				1,4263		0,1,2131						2.9	0.4			107	0,8254		0,0,4127	no	coding	LAMC3	NM_006059.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001651	inframe_deletion	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133961063_133961065delAAG	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.4183_4185delAAG	9.37:g.133961069_133961071delAAG	ENSP00000354360:p.Lys1397del					LAMC3_uc010mze.1_In_Frame_Del_p.K85del	p.K1397del	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	25	4281_4283	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1397			Domain II and I.		B1APX9|B1APY0|Q59H72	In_Frame_Del	DEL	ENST00000361069.4	37	c.4183_4185delAAG	CCDS6938.1																																																																																					0.616	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		25	15	25	15	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130331416	130331416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr11:130331416delG	ENST00000299164.2	+	2	990	c.990delG	c.(988-990)ctgfs	p.L330fs		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGACACCCTGGGCATGGCTG	0.597																																						uc010scd.1																			0				large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(988-990)CTGfs		a disintegrin-like and metalloprotease							109.0	86.0	94.0					11																	130331416		2201	4297	6498	SO:0001589	frameshift_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130331416delG	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.990delG	11.37:g.130331416delG	ENSP00000299164:p.Leu330fs						p.L330fs	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	2	990	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	330			Peptidase M12B.		Q32MI6	Frame_Shift_Del	DEL	ENST00000299164.2	37	c.990delG	CCDS8488.1																																																																																					0.597	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		28	44	28	44	---	---	---	---
PIEZO1	9780	broad.mit.edu	37	16	88800396	88800398	+	In_Frame_Del	DEL	CTG	CTG	-	rs144777557|rs144269709|rs62639697	byFrequency	TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chr16:88800396_88800398delCTG	ENST00000301015.9	-	17	2491_2493	c.2245_2247delCAG	c.(2245-2247)cagdel	p.Q749del	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	749					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.Q749delQ(1)|p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						cctcctcctcctgctgctgctgc	0.665																																						uc010vpb.1																			2	Insertion - In frame(1)|Deletion - In frame(1)		prostate(1)|breast(1)		0						c.(2245-2247)CAGdel		family with sequence similarity 38, member A				527,2913		93,341,1286						-0.9	0.5		dbSNP_129	10	963,5733		197,569,2582	no	coding	PIEZO1	NM_001142864.2		290,910,3868	A1A1,A1R,RR		14.3817,15.3198,14.7001				1490,8646				SO:0001651	inframe_deletion	9780					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity	g.chr16:88800396_88800398delCTG	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2245_2247delCAG	16.37:g.88800405_88800407delCTG	ENSP00000301015:p.Gln749del					FAM38A_uc002flr.3_In_Frame_Del_p.Q317del|FAM38A_uc010cib.2_In_Frame_Del_p.Q286del|uc010vpc.1_Intron	p.Q749del	NM_001142864	NP_001136336	Q92508	PIEZ1_HUMAN			17	2248_2250	-			749					A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Del	DEL	ENST00000301015.9	37	c.2245_2247delCAG	CCDS54058.1																																																																																					0.665	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		0	7	0	7	---	---	---	---
ARAF	369	broad.mit.edu	37	X	47424714	47424714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2792-01A-01D-0983-08	TCGA-66-2792-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b704a17a-9ee9-4555-b2bb-250ac1ec5bed	55e476a9-f8cb-4765-965d-c98e43c6742d	g.chrX:47424714delC	ENST00000377045.4	+	6	716	c.522delC	c.(520-522)cgcfs	p.R174fs	ARAF_ENST00000377039.2_Frame_Shift_Del_p.R174fs|ARAF_ENST00000290277.6_Frame_Shift_Del_p.R174fs	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	174					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCTCGAACCGCCCCCTGAATG	0.572																																						uc011mlq.1																			0				large_intestine(3)|lung(2)|ovary(1)|skin(1)	7						c.(520-522)CGCfs		v-raf murine sarcoma 3611 viral oncogene	Adenosine triphosphate(DB00171)						57.0	53.0	54.0					X																	47424714		2203	4300	6503	SO:0001589	frameshift_variant	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47424714delC	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.522delC	X.37:g.47424714delC	ENSP00000366244:p.Arg174fs					ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Frame_Shift_Del_p.R40fs|ARAF_uc011mlp.1_Frame_Shift_Del_p.R174fs|ARAF_uc004dic.1_5'UTR	p.R174fs	NM_001654	NP_001645	P10398	ARAF_HUMAN			6	655	+			174					P07557|Q5H9B2|Q5H9B3	Frame_Shift_Del	DEL	ENST00000377045.4	37	c.522delC	CCDS35232.1																																																																																					0.572	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			4	8	4	8	---	---	---	---
