#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PLEKHO1	51177	broad.mit.edu	37	1	150131552	150131552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:150131552C>T	ENST00000369124.4	+	6	1342	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.T321M|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.T172M	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	355	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCTGGAGACGGAACGGCTG	0.607																																						uc001ett.2																			0				lung(1)	1						c.(1063-1065)ACG>ATG		pleckstrin homology domain containing, family O							46.0	50.0	48.0					1																	150131552		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131552C>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1064C>T	1.37:g.150131552C>T	ENSP00000358120:p.Thr355Met					PLEKHO1_uc001etr.2_Missense_Mutation_p.T183M|PLEKHO1_uc001ets.2_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.2_Missense_Mutation_p.T183M	p.T355M	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1342	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		355			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.1064C>T	CCDS945.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653787	0.88056	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124	T;T	0.49139	0.79;0.81	5.24	5.24	0.73138	.	0.109676	0.64402	D	0.000006	T	0.27900	0.0687	N	0.14661	0.345	0.46586	D	0.999115	D	0.61697	0.99	P	0.48270	0.572	T	0.02837	-1.1104	10	0.29301	T	0.29	-14.9568	17.9952	0.89181	0.0:1.0:0.0:0.0	.	355	Q53GL0	PKHO1_HUMAN	M	172;321;355	ENSP00000025469:T321M;ENSP00000358120:T355M	ENSP00000025469:T321M	T	+	2	0	PLEKHO1	148398176	0.998000	0.40836	0.997000	0.53966	0.921000	0.55340	4.035000	0.57297	2.726000	0.93360	0.655000	0.94253	ACG		0.607	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	
TCHH	7062	broad.mit.edu	37	1	152083688	152083688	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:152083688C>G	ENST00000368804.1	-	2	2004	c.2005G>C	c.(2005-2007)Gag>Cag	p.E669Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	669	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGCTGCTCGAGCCTCTCT	0.662																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2005-2007)GAG>CAG		trichohyalin							47.0	56.0	53.0					1																	152083688		2003	4179	6182	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083688C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2005G>C	1.37:g.152083688C>G	ENSP00000357794:p.Glu669Gln					TCHH_uc009wne.1_Missense_Mutation_p.E669Q	p.E669Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2005	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		669			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2005G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.964	0.747535	0.15710	.	.	ENSG00000159450	ENST00000368804	T	0.05199	3.48	3.98	1.89	0.25635	.	.	.	.	.	T	0.01387	0.0045	N	0.24115	0.695	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.45848	-0.9233	9	0.18276	T	0.48	.	11.2649	0.49104	0.0:0.4782:0.5218:0.0	.	669	Q07283	TRHY_HUMAN	Q	669	ENSP00000357794:E669Q	ENSP00000357794:E669Q	E	-	1	0	TCHH	150350312	0.000000	0.05858	0.010000	0.14722	0.045000	0.14185	-0.166000	0.09954	0.664000	0.31047	-0.458000	0.05436	GAG		0.662	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
NUP210L	91181	broad.mit.edu	37	1	154110601	154110601	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:154110601C>A	ENST00000368559.3	-	6	902	c.831G>T	c.(829-831)atG>atT	p.M277I	NUP210L_ENST00000271854.3_Missense_Mutation_p.M277I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	277					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCCCTTGAACCATTTTTGCAA	0.343																																						uc001fdw.2																			0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(829-831)ATG>ATT		nucleoporin 210kDa-like isoform 1							100.0	98.0	99.0					1																	154110601		1819	4087	5906	SO:0001583	missense	91181					integral to membrane		g.chr1:154110601C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.831G>T	1.37:g.154110601C>A	ENSP00000357547:p.Met277Ile					NUP210L_uc009woq.2_5'Flank|NUP210L_uc010peh.1_Missense_Mutation_p.M277I	p.M277I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		6	903	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		277					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.831G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	1.021	-0.684963	0.03328	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.04917	3.53;3.53	5.02	4.03	0.46877	.	0.172287	0.41823	D	0.000816	T	0.00666	0.0022	N	0.04746	-0.17	0.30267	N	0.792617	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50701	-0.8797	10	0.02654	T	1	-2.4431	2.8771	0.05635	0.1864:0.5329:0.1792:0.1014	.	277;277	E7EP56;Q5VU65	.;P210L_HUMAN	I	277	ENSP00000357547:M277I;ENSP00000271854:M277I	ENSP00000271854:M277I	M	-	3	0	NUP210L	152377225	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.241000	0.18065	2.607000	0.88179	0.585000	0.79938	ATG		0.343	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158626393G>C	ENST00000368147.4	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	953					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413																																						uc001fst.1																			1	Substitution - Missense(1)		prostate(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2857-2859)GAC>GAG		spectrin, alpha, erythrocytic 1							169.0	172.0	171.0					1																	158626393		1854	4088	5942	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626393G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2859C>G	1.37:g.158626393G>C	ENSP00000357129:p.Asp953Glu						p.D953E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			20	3058	-	all_hematologic(112;0.0378)		953			Spectrin 10.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2859C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292039	0.40594	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.64618	-0.11;-0.11	5.5	-0.31	0.12765	.	0.230977	0.22077	N	0.064944	T	0.12987	0.0315	N	0.11560	0.145	0.28159	N	0.929082	B	0.10296	0.003	B	0.19946	0.027	T	0.32719	-0.9896	10	0.08599	T	0.76	.	6.082	0.19946	0.1474:0.0:0.4682:0.3844	.	953	P02549	SPTA1_HUMAN	E	953	ENSP00000357130:D953E;ENSP00000357129:D953E	ENSP00000357129:D953E	D	-	3	2	SPTA1	156893017	0.999000	0.42202	0.874000	0.34290	0.622000	0.37654	0.345000	0.19979	-0.191000	0.10448	-0.274000	0.10170	GAC		0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158632602	158632602	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158632602C>T	ENST00000368147.4	-	17	2534	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	785					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCTTCTTTCGGGTGGCCAG	0.478																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2353-2355)CGA>CAA		spectrin, alpha, erythrocytic 1							92.0	93.0	93.0					1																	158632602		1926	4134	6060	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632602C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2354G>A	1.37:g.158632602C>T	ENSP00000357129:p.Arg785Gln						p.R785Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			17	2553	-	all_hematologic(112;0.0378)		785			Spectrin 8.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2354G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080208	0.76528	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61040	0.14;0.14	4.41	4.41	0.53225	.	0.000000	0.29624	N	0.011633	T	0.76421	0.3985	M	0.91459	3.21	0.46356	D	0.999006	D	0.89917	1.0	D	0.97110	1.0	T	0.82204	-0.0573	10	0.87932	D	0	.	13.8662	0.63590	0.0:1.0:0.0:0.0	.	785	P02549	SPTA1_HUMAN	Q	785	ENSP00000357130:R785Q;ENSP00000357129:R785Q	ENSP00000357129:R785Q	R	-	2	0	SPTA1	156899226	1.000000	0.71417	0.695000	0.30226	0.397000	0.30659	6.820000	0.75267	2.270000	0.75569	0.655000	0.94253	CGA		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
LAMB3	3914	broad.mit.edu	37	1	209804029	209804029	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:209804029G>A	ENST00000356082.4	-	9	1008	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	LAMB3_ENST00000391911.1_Missense_Mutation_p.R292C|LAMB3_ENST00000367030.3_Missense_Mutation_p.R292C	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	292	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.		R -> L (in dbSNP:rs12091253).		brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGCACAGCGCTCACAATTT	0.597																																						uc001hhg.2																			0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(874-876)CGC>TGC		laminin, beta 3 precursor							62.0	60.0	60.0					1																	209804029		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209804029G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.874C>T	1.37:g.209804029G>A	ENSP00000348384:p.Arg292Cys					LAMB3_uc009xco.2_Missense_Mutation_p.R292C|LAMB3_uc001hhh.2_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C	p.R292C	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	8	1264	-			292			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.874C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960571	0.74016	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.64991	-0.13;-0.13;-0.13	4.95	4.95	0.65309	EGF-like, laminin (4);	0.112554	0.64402	D	0.000009	D	0.82595	0.5071	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.927	D	0.86754	0.1962	10	0.87932	D	0	.	18.2272	0.89921	0.0:0.0:1.0:0.0	.	292;292	B4DL55;Q13751	.;LAMB3_HUMAN	C	292	ENSP00000375778:R292C;ENSP00000348384:R292C;ENSP00000355997:R292C	ENSP00000348384:R292C	R	-	1	0	LAMB3	207870652	1.000000	0.71417	0.865000	0.33974	0.284000	0.27059	8.862000	0.92283	2.474000	0.83562	0.650000	0.86243	CGC		0.597	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
SIPA1L2	57568	broad.mit.edu	37	1	232615447	232615447	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:232615447T>C	ENST00000366630.1	-	6	2369	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T671A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	671	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGTATGTGGTATAGAGAGAG	0.448																																						uc001hvg.2																			0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2011-2013)ACC>GCC		signal-induced proliferation-associated 1 like							174.0	187.0	183.0					1																	232615447		2095	4254	6349	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232615447T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2011A>G	1.37:g.232615447T>C	ENSP00000355589:p.Thr671Ala						p.T671A	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			5	2169	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	671			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2011A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121373	0.77436	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.94184	-3.37;-3.37	5.54	5.54	0.83059	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	L	0.45744	1.44	0.80722	D	1	P	0.51351	0.944	P	0.58266	0.836	D	0.93562	0.6896	10	0.36615	T	0.2	-34.7516	15.9708	0.80019	0.0:0.0:0.0:1.0	.	671	Q9P2F8	SI1L2_HUMAN	A	671	ENSP00000355589:T671A;ENSP00000262861:T671A	ENSP00000262861:T671A	T	-	1	0	SIPA1L2	230682070	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.994000	0.88315	2.231000	0.72958	0.533000	0.62120	ACC		0.448	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
KIAA1804	84451	broad.mit.edu	37	1	233515030	233515030	+	Nonsense_Mutation	SNP	C	C	T	rs373332852		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:233515030C>T	ENST00000366624.3	+	9	2539	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.R206*	NM_032435.2	NP_115811.2																					GAAGAAGAAACGAGAGGGAAT	0.602																																						uc001hvt.3																			0				lung(5)|central_nervous_system(2)|skin(1)	8						c.(2278-2280)CGA>TGA		mixed lineage kinase 4							65.0	73.0	70.0					1																	233515030		2203	4300	6503	SO:0001587	stop_gained	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233515030C>T																												ENST00000366624.3:c.2278C>T	1.37:g.233515030C>T	ENSP00000355583:p.Arg760*					KIAA1804_uc001hvu.3_Nonsense_Mutation_p.R206*	p.R760*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			9	2539	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	760						Nonsense_Mutation	SNP	ENST00000366624.3	37	c.2278C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	40	8.044112	0.98627	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.45	3.51	0.40186	.	0.292889	0.28989	N	0.013482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5871	0.50925	0.3242:0.6758:0.0:0.0	.	.	.	.	X	760;206	.	ENSP00000355581:R206X	R	+	1	2	RP5-862P8.2	231581653	0.005000	0.15991	0.005000	0.12908	0.026000	0.11368	0.728000	0.26013	1.043000	0.40175	0.650000	0.86243	CGA		0.602	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
OR2M4	26245	broad.mit.edu	37	1	248402638	248402638	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:248402638G>T	ENST00000306687.1	+	1	408	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	136					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCCTCATGAATCCGAAAC	0.473																																						uc010pzh.1																			0				breast(2)	2						c.(406-408)ATG>ATT		olfactory receptor, family 2, subfamily M,							166.0	138.0	147.0					1																	248402638		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402638G>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.408G>T	1.37:g.248402638G>T	ENSP00000306688:p.Met136Ile						p.M136I	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	408	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		136			Cytoplasmic (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.408G>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	10.41	1.341617	0.24339	.	.	ENSG00000171180	ENST00000306687	T	0.00551	6.65	3.48	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.123989	0.36167	N	0.002750	T	0.01222	0.0040	M	0.83603	2.65	0.23282	N	0.997984	P	0.49090	0.919	P	0.48770	0.589	T	0.34153	-0.9840	10	0.59425	D	0.04	.	11.1139	0.48249	0.0:0.0:0.8127:0.1873	.	136	Q96R27	OR2M4_HUMAN	I	136	ENSP00000306688:M136I	ENSP00000306688:M136I	M	+	3	0	OR2M4	246469261	1.000000	0.71417	0.867000	0.34043	0.278000	0.26855	3.388000	0.52509	0.755000	0.32990	-0.414000	0.06135	ATG		0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
CALML5	51806	broad.mit.edu	37	10	5540984	5540984	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:5540984C>T	ENST00000380332.3	-	1	549	c.418G>A	c.(418-420)Gcg>Acg	p.A140T		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	140	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCATCCTCGCGAACTCCTCG	0.701																																					GBM(149;1055 3356 43077)	uc001iic.2																			0					0						c.(418-420)GCG>ACG		calmodulin-like 5							21.0	20.0	20.0					10																	5540984		2201	4295	6496	SO:0001583	missense	51806				epidermis development|signal transduction		calcium ion binding|protein binding	g.chr10:5540984C>T	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"""EF-hand domain containing"""	18180	protein-coding gene	gene with protein product	"""calmodulin-like skin protein"""	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.418G>A	10.37:g.5540984C>T	ENSP00000369689:p.Ala140Thr						p.A140T	NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN			1	550	-			140			EF-hand 4.		Q5SQI3|Q8IXU8	Missense_Mutation	SNP	ENST00000380332.3	37	c.418G>A	CCDS7068.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643175	0.47153	.	.	ENSG00000178372	ENST00000380332	T	0.72051	-0.62	4.68	-9.36	0.00629	EF-hand-like domain (1);	1.306410	0.05435	N	0.546657	T	0.36826	0.0981	N	0.04787	-0.16	0.09310	N	1	B	0.31383	0.321	B	0.22601	0.04	T	0.42258	-0.9462	10	0.87932	D	0	-11.4078	0.7424	0.00976	0.204:0.2201:0.1858:0.39	.	140	Q9NZT1	CALL5_HUMAN	T	140	ENSP00000369689:A140T	ENSP00000369689:A140T	A	-	1	0	CALML5	5530984	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.910000	0.04054	-2.600000	0.00451	-0.274000	0.10170	GCG		0.701	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046556.1	NM_017422	
SLK	9748	broad.mit.edu	37	10	105752828	105752828	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:105752828A>G	ENST00000369755.3	+	4	996	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	SLK_ENST00000335753.4_Missense_Mutation_p.I151V	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAATAAGATCATCCACAG	0.333																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(451-453)ATC>GTC		serine/threonine kinase 2							95.0	97.0	96.0					10																	105752828		2203	4299	6502	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105752828A>G		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.451A>G	10.37:g.105752828A>G	ENSP00000358770:p.Ile151Val					SLK_uc001kxp.1_Missense_Mutation_p.I151V	p.I151V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	4	485	+		Colorectal(252;0.178)	151			Protein kinase.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.451A>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702669	0.48307	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69175	-0.38;-0.38	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	N	0.17564	0.495	0.80722	D	1	D;P	0.63880	0.993;0.924	D;D	0.79108	0.992;0.96	T	0.66333	-0.5950	10	0.22706	T	0.39	.	15.2367	0.73436	1.0:0.0:0.0:0.0	.	151;151	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	V	151	ENSP00000336824:I151V;ENSP00000358770:I151V	ENSP00000336824:I151V	I	+	1	0	SLK	105742818	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	6.206000	0.72154	2.018000	0.59344	0.528000	0.53228	ATC		0.333	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
IFITM1	8519	broad.mit.edu	37	11	314342	314342	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:314342G>A	ENST00000408968.3	+	1	490	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	IFITM1_ENST00000328221.5_Missense_Mutation_p.A58T|IFITM1_ENST00000528780.1_Missense_Mutation_p.A58T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	58					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATAGCATTCGCCTACTCCGT	0.612																																						uc001loy.3																			0					0						c.(172-174)GCC>ACC		interferon induced transmembrane protein 1							122.0	128.0	126.0					11																	314342		2083	4207	6290	SO:0001583	missense	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314342G>A	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.172G>A	11.37:g.314342G>A	ENSP00000386187:p.Ala58Thr						p.A58T	NM_003641	NP_003632	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	352	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	58			Cytoplasmic (Potential).		Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	c.172G>A	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768055	0.31320	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.86164	-2.08;-2.08;-2.08	3.14	2.2	0.27929	.	0.672153	0.12768	U	0.440743	T	0.82204	0.4986	L	0.45470	1.425	0.29615	N	0.84665	B	0.29571	0.249	B	0.34301	0.179	T	0.73607	-0.3929	10	0.33940	T	0.23	.	7.5701	0.27902	0.0:0.0:0.7452:0.2548	.	58	P13164	IFM1_HUMAN	T	58;58;58;61	ENSP00000437057:A58T;ENSP00000330825:A58T;ENSP00000386187:A58T	ENSP00000330825:A58T	A	+	1	0	IFITM1	304342	0.998000	0.40836	0.987000	0.45799	0.270000	0.26580	3.341000	0.52151	0.641000	0.30601	0.205000	0.17691	GCC		0.612	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641	
SYT9	143425	broad.mit.edu	37	11	7334771	7334771	+	Missense_Mutation	SNP	C	C	T	rs188796269	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:7334771C>T	ENST00000318881.6	+	3	880	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SYT9_ENST00000396716.2_Missense_Mutation_p.R183W	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	215					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R215W(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGACGGGAGACGGAGTAACAG	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		19696	0.003		0.0	False		,,,				2504	0.0					uc001mfe.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|large_intestine(1)	3						c.(643-645)CGG>TGG		synaptotagmin IX							129.0	132.0	131.0					11																	7334771		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334771C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.643C>T	11.37:g.7334771C>T	ENSP00000324419:p.Arg215Trp					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.R215W	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	880	+			215			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.643C>T	CCDS7778.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.34	3.364978	0.61513	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.08008	3.14;3.14	5.85	4.73	0.59995	.	0.137512	0.51477	D	0.000085	T	0.15349	0.0370	L	0.54323	1.7	0.35292	D	0.782231	P	0.52463	0.953	P	0.50934	0.654	T	0.12400	-1.0549	10	0.72032	D	0.01	.	11.6229	0.51128	0.8441:0.1559:0.0:0.0	.	215	Q86SS6	SYT9_HUMAN	W	183;215	ENSP00000379944:R183W;ENSP00000324419:R215W	ENSP00000324419:R215W	R	+	1	2	SYT9	7291347	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	2.566000	0.45948	1.155000	0.42497	-0.281000	0.10026	CGG		0.398	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
OR5J2	282775	broad.mit.edu	37	11	55944236	55944236	+	Nonsense_Mutation	SNP	T	T	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:55944236T>A	ENST00000312298.1	+	1	143	c.143T>A	c.(142-144)tTa>tAa	p.L48*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATGATCCTCTTAATCCAAATC	0.428																																						uc010rjb.1																			0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(142-144)TTA>TAA		olfactory receptor, family 5, subfamily J,							223.0	202.0	209.0					11																	55944236		2201	4296	6497	SO:0001587	stop_gained	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944236T>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.143T>A	11.37:g.55944236T>A	ENSP00000310788:p.Leu48*						p.L48*	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	143	+	Esophageal squamous(21;0.00693)		48			Cytoplasmic (Potential).		Q6IEU5	Nonsense_Mutation	SNP	ENST00000312298.1	37	c.143T>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	T	9.394	1.076333	0.20227	.	.	ENSG00000174957	ENST00000312298	.	.	.	4.57	3.4	0.38934	.	0.328711	0.21855	N	0.068110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1558	0.20335	0.1453:0.0827:0.0:0.772	.	.	.	.	X	48	.	ENSP00000310788:L48X	L	+	2	0	OR5J2	55700812	0.003000	0.15002	0.027000	0.17364	0.029000	0.11900	1.458000	0.35223	0.698000	0.31739	0.475000	0.43553	TTA		0.428	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492	
POLA2	23649	broad.mit.edu	37	11	65048610	65048610	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:65048610C>A	ENST00000265465.3	+	8	1423	c.892C>A	c.(892-894)Cct>Act	p.P298T	POLA2_ENST00000541089.1_Missense_Mutation_p.P90T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	298					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTCTCTGTTTCCTGGACAGGT	0.512																																						uc001odj.2																			0					0						c.(892-894)CCT>ACT		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						130.0	127.0	128.0					11																	65048610		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65048610C>A	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.892C>A	11.37:g.65048610C>A	ENSP00000265465:p.Pro298Thr					POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.2_5'UTR	p.P298T	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			8	1234	+			298					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.892C>A	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682776	0.88542	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T	0.57752	0.38	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.92833	3.35	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.65443	0.935;0.807	D	0.83923	0.0302	10	0.87932	D	0	-16.7685	16.5719	0.84615	0.0:1.0:0.0:0.0	.	90;298	B4DNB4;Q14181	.;DPOA2_HUMAN	T	298;90	ENSP00000265465:P298T	ENSP00000265465:P298T	P	+	1	0	POLA2	64805186	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.003000	0.76310	2.522000	0.85027	0.555000	0.69702	CCT		0.512	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689	
OR10G7	390265	broad.mit.edu	37	11	123909464	123909464	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:123909464G>A	ENST00000330487.5	-	1	253	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACACCAAGGTCATCAGCAT	0.532																																						uc001pzq.1																			0				ovary(2)	2						c.(244-246)ACC>ATC		olfactory receptor, family 10, subfamily G,							161.0	173.0	169.0					11																	123909464		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909464G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.245C>T	11.37:g.123909464G>A	ENSP00000329689:p.Thr82Ile						p.T82I	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	245	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	82			Extracellular (Potential).		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.245C>T	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	G	7.898	0.733805	0.15574	.	.	ENSG00000182634	ENST00000330487	T	0.00406	7.55	3.39	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.443529	0.18924	N	0.127416	T	0.00241	0.0007	N	0.16656	0.425	0.09310	N	1	P	0.38370	0.628	B	0.41088	0.347	T	0.50866	-0.8777	10	0.87932	D	0	.	3.3872	0.07276	0.1049:0.167:0.5575:0.1707	.	82	Q8NGN6	O10G7_HUMAN	I	82	ENSP00000329689:T82I	ENSP00000329689:T82I	T	-	2	0	OR10G7	123414674	0.000000	0.05858	0.980000	0.43619	0.625000	0.37756	-0.831000	0.04405	1.910000	0.55303	0.455000	0.32223	ACC		0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463	
IQSEC3	440073	broad.mit.edu	37	12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:248252_248254delGAG	ENST00000538872.1	+	4	1841_1843	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	IQSEC3_ENST00000382841.2_In_Frame_Del_p.E276del|RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_In_Frame_Del_p.E579del			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	579	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.7																																						uc001qhw.1																			0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(814-816)GAGdel		IQ motif and Sec7 domain 3			,	23,3845		3,17,1914					,	-1.9	0.3			5	55,7605		9,37,3784	no	coding,coding	IQSEC3	NM_015232.1,NM_001170738.1	,	12,54,5698	A1A1,A1R,RR		0.718,0.5946,0.6766	,	,		78,11450				SO:0001651	inframe_deletion	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248252_248254delGAG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1723_1725delGAG	12.37:g.248261_248263delGAG	ENSP00000437554:p.Glu579del					IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|IQSEC3_uc001qht.1_In_Frame_Del_p.E361del|uc001qhv.1_Intron	p.E276del	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	820_822	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		579			Poly-Glu.		A6NIF2|A6NKV9|Q8TB43	In_Frame_Del	DEL	ENST00000538872.1	37	c.814_816delGAG	CCDS53728.1																																																																																				0.700	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
C3AR1	719	broad.mit.edu	37	12	8211864	8211864	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:8211864G>A	ENST00000307637.4	-	2	1121	c.918C>T	c.(916-918)taC>taT	p.Y306Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	306					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCTCAGACTCGTAGAAGGAAT	0.438																																						uc001qtv.1																			0				ovary(1)	1						c.(916-918)TAC>TAT		complement component 3a receptor 1							123.0	125.0	125.0					12																	8211864		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211864G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.918C>T	12.37:g.8211864G>A							p.Y306Y	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1010	-			306			Extracellular (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.918C>T	CCDS8588.1																																																																																				0.438	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
HECTD4	283450	broad.mit.edu	37	12	112622744	112622744	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:112622744G>A	ENST00000430131.2	-	60	9905	c.8760C>T	c.(8758-8760)agC>agT	p.S2920S	HECTD4_ENST00000377560.5_Silent_p.S3170S|HECTD4_ENST00000550722.1_Silent_p.S3196S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2920					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCCTCCGATGCTGAGCACGG	0.627																																						uc009zwc.2																			0				ovary(1)|lung(1)	2						c.(8758-8760)AGC>AGT		chromosome 12 open reading frame 51							37.0	41.0	39.0					12																	112622744		2198	4291	6489	SO:0001819	synonymous_variant	283450							g.chr12:112622744G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8760C>T	12.37:g.112622744G>A							p.S2920S	NM_001109662	NP_001103132					54	8778	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.8760C>T																																																																																					0.627	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
DDX54	79039	broad.mit.edu	37	12	113600992	113600992	+	Silent	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:113600992G>T	ENST00000306014.5	-	16	2053	c.2026C>A	c.(2026-2028)Cgg>Agg	p.R676R	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Silent_p.R676R	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	676					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGGTCCCGCTGCCGGGCC	0.667																																						uc001tup.2																			0				skin(2)|central_nervous_system(1)	3						c.(2026-2028)CGG>AGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							52.0	59.0	57.0					12																	113600992		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113600992G>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2026C>A	12.37:g.113600992G>T						DDX54_uc001tuq.3_Silent_p.R676R	p.R676R	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			16	2054	-			676					Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.2026C>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296850	0.23650	.	.	ENSG00000123064	ENST00000546898	.	.	.	5.24	4.33	0.51752	.	.	.	.	.	T	0.40423	0.1116	.	.	.	0.22940	N	0.99854	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	11.1197	0.48281	0.0:0.1391:0.7166:0.1443	.	.	.	.	E	78	.	.	A	-	2	0	DDX54	112085375	0.946000	0.32159	0.542000	0.28115	0.963000	0.63663	3.813000	0.55636	1.173000	0.42796	0.643000	0.83706	GCG		0.667	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072	
LTBP2	4053	broad.mit.edu	37	14	74991895	74991895	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991895C>G	ENST00000261978.4	-	15	2848	c.2462G>C	c.(2461-2463)gGg>gCg	p.G821A	LTBP2_ENST00000556690.1_Missense_Mutation_p.G821A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	821					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612																																						uc001xqa.2																			0				liver(1)|skin(1)	2						c.(2461-2463)GGG>GCG		latent transforming growth factor beta binding							264.0	213.0	230.0					14																	74991895		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74991895C>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2462G>C	14.37:g.74991895C>G	ENSP00000261978:p.Gly821Ala						p.G821A	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	15	2849	-			821					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2462G>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	3.005	-0.205103	0.06180	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77358	-1.09;-1.09	4.9	-0.851	0.10716	.	0.541544	0.15301	N	0.269617	T	0.55242	0.1908	L	0.29908	0.895	0.09310	N	1	B	0.24483	0.104	B	0.22386	0.039	T	0.40646	-0.9552	10	0.06891	T	0.86	.	3.8913	0.09120	0.238:0.3037:0.0:0.4583	.	821	Q14767	LTBP2_HUMAN	A	821	ENSP00000261978:G821A;ENSP00000451477:G821A	ENSP00000261978:G821A	G	-	2	0	LTBP2	74061648	0.000000	0.05858	0.008000	0.14137	0.017000	0.09413	-0.749000	0.04813	-0.374000	0.07967	-0.136000	0.14681	GGG		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
LTBP2	4053	broad.mit.edu	37	14	74991927	74991927	+	Splice_Site	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991927C>G	ENST00000261978.4	-	15	2816	c.2430G>C	c.(2428-2430)ggG>ggC	p.G810G	LTBP2_ENST00000556690.1_Splice_Site_p.G810G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	810					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGTGGCATTCCCTGTGGAGG	0.597																																						uc001xqa.2																			0				liver(1)|skin(1)	2						c.(2428-2430)GGG>GGC		latent transforming growth factor beta binding							189.0	157.0	168.0					14																	74991927		2203	4300	6503	SO:0001630	splice_region_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74991927C>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2429-1G>C	14.37:g.74991927C>G							p.G810G	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	15	2817	-			810					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.2430G>C	CCDS9831.1																																																																																				0.597	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	Silent
STON2	85439	broad.mit.edu	37	14	81744671	81744671	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:81744671G>C	ENST00000267540.2	-	4	1184	c.984C>G	c.(982-984)atC>atG	p.I328M	STON2_ENST00000555447.1_Missense_Mutation_p.I328M|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	328					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAAGGGTTGATAGGGGAGG	0.512																																						uc010tvu.1																			0				skin(3)|pancreas(2)	5						c.(982-984)ATC>ATG		stonin 2							86.0	91.0	89.0					14																	81744671		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744671G>C	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.984C>G	14.37:g.81744671G>C	ENSP00000267540:p.Ile328Met					STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.1_Missense_Mutation_p.I125M	p.I328M	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1185	-			328					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.984C>G	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426965	0.43122	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55588	0.51;0.51	5.97	2.75	0.32379	Stonin-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	L	0.59436	1.845	0.33886	D	0.636775	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68116	-0.5494	10	0.37606	T	0.19	-30.1189	7.3675	0.26781	0.2047:0.0:0.6689:0.1265	.	328;328	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	328;340;328	ENSP00000450857:I328M;ENSP00000267540:I328M	ENSP00000267540:I328M	I	-	3	3	STON2	80814424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.213000	0.42844	0.868000	0.35678	0.655000	0.94253	ATC		0.512	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
MOAP1	64112	broad.mit.edu	37	14	93651787	93651787	+	5'Flank	SNP	T	T	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:93651787T>A	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000415050.2_Missense_Mutation_p.S19T|RP11-371E8.4_ENST00000557574.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000283534.4_Intron			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		GCTGAGTGACTCTTTAACGCT	0.502																																						uc010auo.2																			0					0						c.(55-57)TCT>ACT		hypothetical protein LOC26175 isoform 1							121.0	123.0	123.0					14																	93651787		1885	4123	6008	SO:0001631	upstream_gene_variant	26175					integral to membrane		g.chr14:93651787T>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93651787T>A	Exception_encountered					MOAP1_uc001ybj.2_5'Flank|C14orf109_uc001ybk.3_Intron	p.S19T	NM_001098621	NP_001092091	Q8N6I4	CN109_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)	1	413	+		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)	13					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.55T>A	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704560	0.68615	.	.	ENSG00000153485	ENST00000415050	.	.	.	4.1	2.9	0.33743	.	.	.	.	.	T	0.25457	0.0619	N	0.14661	0.345	0.24941	N	0.991853	B	0.20988	0.05	B	0.17098	0.017	T	0.21143	-1.0254	8	0.87932	D	0	-1.3356	7.2291	0.26033	0.0:0.0:0.2275:0.7725	.	13	Q8N6I4	CN109_HUMAN	T	19	.	ENSP00000388431:S19T	S	+	1	0	C14orf109	92721540	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	1.690000	0.37711	0.598000	0.29829	0.378000	0.23410	TCT		0.502	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1		
RLTPR	146206	broad.mit.edu	37	16	67683828	67683828	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr16:67683828C>T	ENST00000334583.6	+	21	2367	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A644V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	680					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGGCCCAGGCGCAGCGCAGC	0.647																																						uc002etn.2																			0				breast(1)	1						c.(2038-2040)GCG>GTG		RGD motif, leucine rich repeats, tropomodulin							34.0	43.0	40.0					16																	67683828		2150	4252	6402	SO:0001583	missense	146206							g.chr16:67683828C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2039C>T	16.37:g.67683828C>T	ENSP00000334958:p.Ala680Val					RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.1_Missense_Mutation_p.A644V	p.A680V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	21	2159	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	680			LRR 16.		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2039C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522946	0.85600	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.54071	0.59;0.59	5.11	5.11	0.69529	.	0.135737	0.49916	D	0.000126	T	0.71854	0.3389	M	0.75777	2.31	0.44531	D	0.997487	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.943	T	0.75224	-0.3393	10	0.66056	D	0.02	-10.9424	15.2694	0.73689	0.0:1.0:0.0:0.0	.	644;680	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	680;644	ENSP00000334958:A680V;ENSP00000441481:A644V	ENSP00000334958:A680V	A	+	2	0	RLTPR	66241329	0.997000	0.39634	0.962000	0.40283	0.749000	0.42624	3.607000	0.54102	2.392000	0.81423	0.561000	0.74099	GCG		0.647	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*6(2)|p.V216fs*31(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(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	CX952222	TP53	X		c.(646-648)GTG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							123.0	111.0	115.0					17																	7578203		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578203C>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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.2_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.1_Missense_Mutation_p.V177M	p.V216M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	840	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.646G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PLXDC1	57125	broad.mit.edu	37	17	37265501	37265501	+	Splice_Site	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:37265501C>T	ENST00000315392.4	-	3	610	c.399G>A	c.(397-399)tcG>tcA	p.S133S	PLXDC1_ENST00000444911.2_Splice_Site_p.S93S|PLXDC1_ENST00000539608.1_Splice_Site_p.S60S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Splice_Site_p.S133S	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	133					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGCACTCACCGAAGCCTGCC	0.657																																						uc002hrg.2																			0				ovary(1)|kidney(1)|skin(1)	3						c.(397-399)TCG>TCA		plexin domain containing 1 precursor							88.0	79.0	82.0					17																	37265501		2203	4300	6503	SO:0001630	splice_region_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37265501C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.399+1G>A	17.37:g.37265501C>T						PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.S133S	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			3	611	-			133			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.399G>A	CCDS11333.1																																																																																				0.657	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405	Silent
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						uc010wfo.1																			4	Substitution - Missense(4)		endometrium(3)|kidney(1)		0						c.(283-285)TGC>AGC		keratin associated protein 4.8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	322	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15.		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
SCN4A	6329	broad.mit.edu	37	17	62036660	62036660	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:62036660C>T	ENST00000435607.1	-	12	2060	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I	SCN4A_ENST00000578147.1_Missense_Mutation_p.V662I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	662					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTCCCTGTACGTTGGCCAGG	0.592																																						uc002jds.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(1984-1986)GTA>ATA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						89.0	89.0	89.0					17																	62036660		2080	4223	6303	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036660C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1984G>A	17.37:g.62036660C>T	ENSP00000396320:p.Val662Ile						p.V662I	NM_000334	NP_000325	P35499	SCN4A_HUMAN			12	2061	-			662			II.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1984G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547899	0.86022	.	.	ENSG00000007314	ENST00000435607	D	0.98512	-4.97	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	L	0.41492	1.28	0.49213	D	0.999763	P	0.51537	0.946	P	0.50490	0.642	D	0.96890	0.9652	10	0.39692	T	0.17	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	662	P35499	SCN4A_HUMAN	I	662	ENSP00000396320:V662I	ENSP00000396320:V662I	V	-	1	0	SCN4A	59390392	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	7.571000	0.82399	2.573000	0.86826	0.556000	0.70494	GTA		0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
PALM	5064	broad.mit.edu	37	19	746653	746653	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:746653G>A	ENST00000338448.5	+	9	1049	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	PALM_ENST00000264560.7_Missense_Mutation_p.A291T|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	335					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		CGAAGACGCGGCTGAGCCCAA	0.647																																						uc002lpm.1																			0					0						c.(1003-1005)GCT>ACT		paralemmin isoform 1							31.0	26.0	28.0					19																	746653		2201	4300	6501	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746653G>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1003G>A	19.37:g.746653G>A	ENSP00000341911:p.Ala335Thr					PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T	p.A335T	NM_002579	NP_002570	O75781	PALM_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)|Lung(535;0.201)	9	1197	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	335					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.1003G>A	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	G	9.767	1.171546	0.21704	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.18657	2.2;2.2	3.6	2.42	0.29668	.	1.519180	0.03675	N	0.244662	T	0.28532	0.0706	M	0.72479	2.2	0.09310	N	1	B;P	0.45634	0.259;0.863	B;B	0.40982	0.108;0.345	T	0.35076	-0.9803	10	0.51188	T	0.08	-11.5054	9.071	0.36493	0.0:0.1566:0.6835:0.1599	.	291;335	O75781-2;O75781	.;PALM_HUMAN	T	335;291;200	ENSP00000341911:A335T;ENSP00000264560:A291T	ENSP00000264560:A291T	A	+	1	0	PALM	697653	0.004000	0.15560	0.069000	0.20011	0.644000	0.38419	0.994000	0.29693	1.936000	0.56123	0.462000	0.41574	GCT		0.647	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579	
SAFB2	9667	broad.mit.edu	37	19	5587954	5587954	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:5587954C>T	ENST00000252542.4	-	19	2827	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	855	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGGTGCTCCTCTAGCCGCTGG	0.652																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2																			0					0						c.(2563-2565)GAG>AAG		scaffold attachment factor B2							18.0	20.0	19.0					19																	5587954		2201	4296	6497	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5587954C>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2563G>A	19.37:g.5587954C>T	ENSP00000252542:p.Glu855Lys						p.E855K	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	19	2775	-			855			Interacts with SAFB1.|Gly-rich.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.2563G>A	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	c	14.28	2.486908	0.44249	.	.	ENSG00000130254	ENST00000252542	T	0.10005	2.92	4.31	3.22	0.36961	.	0.496886	0.18271	N	0.146317	T	0.10208	0.0250	L	0.55481	1.735	0.25868	N	0.983745	P	0.37781	0.608	B	0.28784	0.094	T	0.09773	-1.0659	10	0.42905	T	0.14	-9.9643	12.0824	0.53677	0.0:0.8261:0.1739:0.0	.	855	Q14151	SAFB2_HUMAN	K	855	ENSP00000252542:E855K	ENSP00000252542:E855K	E	-	1	0	SAFB2	5538954	0.783000	0.28701	0.192000	0.23308	0.407000	0.30961	2.901000	0.48695	0.728000	0.32382	0.655000	0.94253	GAG		0.652	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
IFT172	26160	broad.mit.edu	37	2	27670769	27670769	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:27670769C>A	ENST00000260570.3	-	41	4552	c.4449G>T	c.(4447-4449)agG>agT	p.R1483S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1483					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTGAAGATCCTTTTGTAGA	0.502																																						uc002rku.2																			0				large_intestine(1)|ovary(1)	2						c.(4447-4449)AGG>AGT		selective LIM binding factor homolog							105.0	101.0	102.0					2																	27670769		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27670769C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4449G>T	2.37:g.27670769C>A	ENSP00000260570:p.Arg1483Ser					IFT172_uc010ezb.2_RNA	p.R1483S	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			41	4500	-	Acute lymphoblastic leukemia(172;0.155)		1483					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4449G>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611984	0.66558	.	.	ENSG00000138002	ENST00000260570	T	0.45668	0.89	5.37	4.49	0.54785	.	0.053889	0.64402	D	0.000001	T	0.56949	0.2020	M	0.81497	2.545	0.80722	D	1	P	0.50443	0.935	P	0.57324	0.818	T	0.57081	-0.7872	10	0.34782	T	0.22	-14.9958	8.708	0.34367	0.1502:0.7689:0.0:0.0809	.	1483	Q9UG01	IF172_HUMAN	S	1483	ENSP00000260570:R1483S	ENSP00000260570:R1483S	R	-	3	2	IFT172	27524273	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.532000	0.23067	1.277000	0.44412	0.561000	0.74099	AGG		0.502	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
CAPN13	92291	broad.mit.edu	37	2	30959413	30959413	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:30959413G>T	ENST00000295055.8	-	18	1854	c.1678C>A	c.(1678-1680)Caa>Aaa	p.Q560K	CAPN13_ENST00000534090.2_Missense_Mutation_p.Q560K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	560	EF-hand 1.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCCTCTTGGTCTAGCCGC	0.537																																						uc002rnn.2																			0				large_intestine(1)|ovary(1)	2						c.(1678-1680)CAA>AAA		calpain 13							86.0	91.0	89.0					2																	30959413		2021	4179	6200	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30959413G>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1678C>A	2.37:g.30959413G>T	ENSP00000295055:p.Gln560Lys					CAPN13_uc002rnm.2_RNA	p.Q560K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			17	1854	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		560			EF-hand 1.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1678C>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.225999	0.00283	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.28666	1.6;1.6	5.06	2.23	0.28157	EF-hand-like domain (1);	5.695680	0.01015	U	0.003894	T	0.33177	0.0854	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.29119	-1.0022	10	0.59425	D	0.04	.	8.775	0.34756	0.0:0.3095:0.5302:0.1604	.	560	Q6MZZ7	CAN13_HUMAN	K	560	ENSP00000295055:Q560K;ENSP00000431298:Q560K	ENSP00000295055:Q560K	Q	-	1	0	CAPN13	30812917	0.001000	0.12720	0.001000	0.08648	0.058000	0.15608	0.602000	0.24134	0.246000	0.21394	0.552000	0.68991	CAA		0.537	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
RMDN2	151393	broad.mit.edu	37	2	38202445	38202445	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:38202445T>C	ENST00000406384.1	+	4	912	c.718T>C	c.(718-720)Tat>Cat	p.Y240H	RMDN2_ENST00000234195.3_Missense_Mutation_p.Y418H|RMDN2_ENST00000417700.2_Missense_Mutation_p.Y95H|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000407257.1_Missense_Mutation_p.Y418H|RMDN2_ENST00000354545.2_Missense_Mutation_p.Y240H	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	240						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAAGAAACATTATGCTAATAT	0.323																																						uc002rql.2																			0				ovary(1)	1						c.(718-720)TAT>CAT		family with sequence similarity 82, member A1							103.0	103.0	103.0					2																	38202445		2203	4299	6502	SO:0001583	missense	151393					cytoplasm|integral to membrane|microtubule|spindle pole	binding	g.chr2:38202445T>C	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.718T>C	2.37:g.38202445T>C	ENSP00000386004:p.Tyr240His					FAM82A1_uc002rqn.1_Missense_Mutation_p.Y418H|FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rqm.2_Missense_Mutation_p.Y95H	p.Y240H	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN			4	841	+			240					A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.718T>C	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.200543	0.38905	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.12	5.12	0.69794	.	0.587283	0.16890	N	0.195326	T	0.47985	0.1475	M	0.63428	1.95	0.37244	D	0.906264	B;B;B;B	0.29612	0.12;0.251;0.158;0.158	B;B;B;B	0.33042	0.157;0.081;0.139;0.139	T	0.56523	-0.7965	10	0.59425	D	0.04	.	11.2216	0.48857	0.0:0.0:0.0:1.0	.	418;95;240;95	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	H	240;240;418;95;418;95	ENSP00000346549:Y240H;ENSP00000386004:Y240H;ENSP00000385049:Y418H;ENSP00000392977:Y95H;ENSP00000234195:Y418H;ENSP00000416367:Y95H	ENSP00000234195:Y418H	Y	+	1	0	FAM82A1	38055949	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.279000	0.58953	2.144000	0.66660	0.482000	0.46254	TAT		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713	
SULT1C4	27233	broad.mit.edu	37	2	108999906	108999906	+	Silent	SNP	A	A	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:108999906A>T	ENST00000272452.2	+	5	881	c.555A>T	c.(553-555)ggA>ggT	p.G185G	SULT1C4_ENST00000409309.3_Silent_p.G110G	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	185					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATGTGAAAGGATGGTGGGAAG	0.478																																						uc002tea.1																			0					0						c.(553-555)GGA>GGT		sulfotransferase family, cytosolic, 1C, member							131.0	112.0	118.0					2																	108999906		2203	4300	6503	SO:0001819	synonymous_variant	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108999906A>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.555A>T	2.37:g.108999906A>T						SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.G110G	p.G185G	NM_006588	NP_006579	O75897	ST1C4_HUMAN			5	928	+			185					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000272452.2	37	c.555A>T	CCDS2077.1																																																																																				0.478	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588	
RPRM	56475	broad.mit.edu	37	2	154334770	154334770	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:154334770C>T	ENST00000325926.3	-	1	552	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	104					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						CCCACGACCACCGCCTCCACC	0.637																																						uc002tyq.1																			0					0						c.(310-312)GTG>ATG		reprimo, TP53 dependant G2 arrest mediator							36.0	34.0	34.0					2																	154334770		2203	4300	6503	SO:0001583	missense	56475				cell cycle arrest	cytoplasm|integral to membrane	protein binding	g.chr2:154334770C>T	AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"""candidate mediator of the p53 dependent G2 arrest"", ""REPRIMO"""	612171	"""reprimo, TP53 dependant G2 arrest mediator candidate"""			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.310G>A	2.37:g.154334770C>T	ENSP00000314946:p.Val104Met						p.V104M	NM_019845	NP_062819	Q9NS64	RPRM_HUMAN			1	553	-			104					B2R4V1	Missense_Mutation	SNP	ENST00000325926.3	37	c.310G>A	CCDS2198.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067050	0.76301	.	.	ENSG00000177519	ENST00000325926	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	L	0.59436	1.845	0.54753	D	0.999986	D	0.55172	0.97	P	0.59487	0.858	T	0.76035	-0.3106	9	0.66056	D	0.02	0.0544	15.3056	0.73990	0.0:1.0:0.0:0.0	.	104	Q9NS64	RPRM_HUMAN	M	104	.	ENSP00000314946:V104M	V	-	1	0	RPRM	154043016	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.405000	0.80007	2.200000	0.70718	0.591000	0.81541	GTG		0.637	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254856.1	NM_019845	
STAT4	6775	broad.mit.edu	37	2	192011451	192011451	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:192011451G>A	ENST00000392320.2	-	3	475	c.161C>T	c.(160-162)aCg>aTg	p.T54M	STAT4_ENST00000358470.4_Missense_Mutation_p.T54M|STAT4_ENST00000409995.1_Missense_Mutation_p.T54M	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	54					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGAAGAATCGTTGCCATGGT	0.323																																						uc002usm.1																			0				breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(160-162)ACG>ATG		signal transducer and activator of transcription							79.0	76.0	77.0					2																	192011451		2203	4299	6502	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:192011451G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.161C>T	2.37:g.192011451G>A	ENSP00000376134:p.Thr54Met					STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.3_Missense_Mutation_p.T54M|STAT4_uc010zgl.1_Missense_Mutation_p.T54M	p.T54M	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		3	415	-			54					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.161C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731982	0.48939	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064;ENST00000409995;ENST00000450994	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.45	5.45	0.79879	STAT transcription factor, protein interaction (4);	0.193726	0.45606	D	0.000343	T	0.47451	0.1446	L	0.49778	1.585	0.45580	D	0.998529	B;B;B	0.32467	0.372;0.372;0.372	B;B;B	0.29176	0.099;0.099;0.099	T	0.48269	-0.9050	10	0.52906	T	0.07	-30.5114	14.6674	0.68918	0.0712:0.0:0.9288:0.0	.	54;54;54	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	M	54;54;27;54;54	ENSP00000351255:T54M;ENSP00000376134:T54M;ENSP00000403238:T27M;ENSP00000386288:T54M;ENSP00000412397:T54M	ENSP00000351255:T54M	T	-	2	0	STAT4	191719696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.946000	0.56644	2.838000	0.97847	0.655000	0.94253	ACG		0.323	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
CD28	940	broad.mit.edu	37	2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:204599561C>T	ENST00000324106.8	+	4	738	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_ENST00000374481.3_Missense_Mutation_p.R113C|CD28_ENST00000374478.4_Missense_Mutation_p.R78C|CD28_ENST00000458610.2_Missense_Mutation_p.R211C	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	197					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597																																						uc002vah.3																			0					0						c.(589-591)CGC>TGC		CD28 antigen precursor							69.0	75.0	73.0					2																	204599561		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204599561C>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.589C>T	2.37:g.204599561C>T	ENSP00000324890:p.Arg197Cys					CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Missense_Mutation_p.R78C|CD28_uc002vaj.3_RNA	p.R197C	NM_006139	NP_006130	P10747	CD28_HUMAN			4	811	+			197			Cytoplasmic (Potential).		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.589C>T	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844155	0.32606	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.75	3.84	0.44239	.	0.235357	0.27700	N	0.018215	D	0.89255	0.6663	M	0.81682	2.555	0.26573	N	0.973524	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.98	T	0.81393	-0.0953	10	0.87932	D	0	-17.9671	7.0568	0.25104	0.1728:0.7376:0.0:0.0896	.	78;197	P10747-2;P10747	.;CD28_HUMAN	C	113;211;197;78	ENSP00000363605:R113C;ENSP00000393648:R211C;ENSP00000324890:R197C;ENSP00000363602:R78C	ENSP00000324890:R197C	R	+	1	0	CD28	204307806	0.737000	0.28175	0.059000	0.19551	0.012000	0.07955	1.123000	0.31308	1.055000	0.40461	0.655000	0.94253	CGC		0.597	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139	
ANGPT4	51378	broad.mit.edu	37	20	860425	860425	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:860425C>T	ENST00000381922.3	-	6	1120	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2																			0				ovary(2)	2						c.(1018-1020)GTG>ATG		angiopoietin 4 precursor							82.0	75.0	78.0					20																	860425		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:860425C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1018G>A	20.37:g.860425C>T	ENSP00000371347:p.Val340Met					ANGPT4_uc010zpn.1_Missense_Mutation_p.V334M	p.V340M	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			6	1121	-			340			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1018G>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121658	0.20877	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.35236	1.82;1.32	5.44	2.45	0.29901	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.355854	0.25458	N	0.030524	T	0.49372	0.1553	H	0.97707	4.06	0.09310	N	0.999996	D;P	0.55385	0.971;0.945	B;B	0.41860	0.368;0.131	T	0.57957	-0.7721	10	0.87932	D	0	.	5.0409	0.14458	0.1203:0.6288:0.1165:0.1344	.	340;340	B4E3J9;Q9Y264	.;ANGP4_HUMAN	M	340	ENSP00000371347:V340M;ENSP00000439605:V340M	ENSP00000371347:V340M	V	-	1	0	ANGPT4	808425	0.123000	0.22298	0.001000	0.08648	0.205000	0.24178	0.891000	0.28309	0.411000	0.25702	0.655000	0.94253	GTG		0.617	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
PTPRT	11122	broad.mit.edu	37	20	41306569	41306569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:41306569G>A	ENST00000373187.1	-	7	1089	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R364*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R364*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	364	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCACCTGGTCGTGTGAGGAGC	0.562																																						uc002xkg.2																			0				skin(8)|ovary(7)|lung(5)	20						c.(1090-1092)CGA>TGA		protein tyrosine phosphatase, receptor type, T							104.0	105.0	105.0					20																	41306569		1956	4157	6113	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306569G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1090C>T	20.37:g.41306569G>A	ENSP00000362283:p.Arg364*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.R364*	p.R364*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1274	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	364			Extracellular (Potential).|Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.1090C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	39	7.670585	0.98425	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.42	2.03	0.26663	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9061	0.63836	0.0:0.0:0.5718:0.4282	.	.	.	.	X	364	.	ENSP00000348408:R364X	R	-	1	2	PTPRT	40739983	1.000000	0.71417	0.968000	0.41197	0.771000	0.43674	3.574000	0.53863	0.672000	0.31204	0.655000	0.94253	CGA		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
MATN4	8785	broad.mit.edu	37	20	43927042	43927042	+	Silent	SNP	A	A	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43927042A>T	ENST00000372754.1	-	7	1325	c.1317T>A	c.(1315-1317)ccT>ccA	p.P439P	MATN4_ENST00000360607.6_Silent_p.P357P|MATN4_ENST00000372756.1_Silent_p.P398P|MATN4_ENST00000342716.4_Silent_p.P398P|MATN4_ENST00000353917.5_Silent_p.P316P|MATN4_ENST00000372751.4_Silent_p.P249P|MATN4_ENST00000537548.1_Silent_p.P398P			O95460	MATN4_HUMAN	matrilin 4	439	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGCGACCCAGAGGGAACTCGG	0.662																																						uc002xnn.2																			0					0						c.(1192-1194)CCT>CCA		matrilin 4 isoform 1 precursor							51.0	46.0	48.0					20																	43927042		2203	4300	6503	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43927042A>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1317T>A	20.37:g.43927042A>T						MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P	p.P398P	NM_003833	NP_003824	O95460	MATN4_HUMAN			7	1381	-		Myeloproliferative disorder(115;0.0122)	439			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.1194T>A																																																																																					0.662	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
MATN4	8785	broad.mit.edu	37	20	43933002	43933002	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43933002G>A	ENST00000372754.1	-	2	517	c.509C>T	c.(508-510)gCg>gTg	p.A170V	RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.A170V|MATN4_ENST00000372756.1_Missense_Mutation_p.A170V|MATN4_ENST00000342716.4_Missense_Mutation_p.A170V|MATN4_ENST00000353917.5_Missense_Mutation_p.A170V|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.A170V			O95460	MATN4_HUMAN	matrilin 4	170	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACCCCCACCGCGTAAATTTC	0.706																																						uc002xnn.2																			0					0						c.(508-510)GCG>GTG		matrilin 4 isoform 1 precursor							12.0	14.0	13.0					20																	43933002		2179	4238	6417	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933002G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.509C>T	20.37:g.43933002G>A	ENSP00000361840:p.Ala170Val					MATN4_uc002xno.2_Missense_Mutation_p.A170V|MATN4_uc002xnp.2_Missense_Mutation_p.A170V|MATN4_uc010zwr.1_Missense_Mutation_p.A118V|MATN4_uc002xnr.1_Missense_Mutation_p.A170V|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.A170V	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	696	-		Myeloproliferative disorder(115;0.0122)	170			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.509C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.447212	0.96205	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.77	4.77	0.60923	.	0.000000	0.43919	D	0.000519	D	0.91975	0.7458	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	P;D;D	0.91635	0.812;0.999;0.95	D	0.92923	0.6357	10	0.87932	D	0	.	17.0104	0.86405	0.0:0.0:1.0:0.0	.	170;170;170	A6NNA4;O95460-4;O95460-2	.;.;.	V	170	ENSP00000361840:A170V;ENSP00000361842:A170V;ENSP00000243983:A170V;ENSP00000353819:A170V;ENSP00000343164:A170V;ENSP00000440328:A170V	ENSP00000255132:A170V	A	-	2	0	MATN4	43366416	1.000000	0.71417	0.665000	0.29768	0.996000	0.88848	9.633000	0.98432	2.501000	0.84356	0.456000	0.33151	GCG		0.706	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
MMP9	4318	broad.mit.edu	37	20	44641083	44641083	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:44641083G>A	ENST00000372330.3	+	8	1211	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	398					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TTTGTTCCTCGTGGCGGCGCA	0.662																																						uc002xqz.2																			0				ovary(1)|pancreas(1)	2						c.(1192-1194)GTG>ATG		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						53.0	52.0	52.0					20																	44641083		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641083G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1192G>A	20.37:g.44641083G>A	ENSP00000361405:p.Val398Met						p.V398M	NM_004994	NP_004985	P14780	MMP9_HUMAN			8	1211	+		Myeloproliferative disorder(115;0.0122)	398					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1192G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791981	0.70452	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.39056	1.1	4.99	4.99	0.66335	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.058087	0.64402	D	0.000002	T	0.76118	0.3943	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84392	0.0555	10	0.87932	D	0	.	17.4497	0.87588	0.0:0.0:1.0:0.0	.	398	P14780	MMP9_HUMAN	M	398;43	ENSP00000361405:V398M	ENSP00000361405:V398M	V	+	1	0	MMP9	44074490	1.000000	0.71417	0.996000	0.52242	0.237000	0.25408	9.519000	0.98025	2.606000	0.88127	0.561000	0.74099	GTG		0.662	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
MIOX	55586	broad.mit.edu	37	22	50928230	50928230	+	Missense_Mutation	SNP	G	G	A	rs140377157	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr22:50928230G>A	ENST00000216075.6	+	10	877	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	MIOX_ENST00000395732.3_Silent_p.A263A|MIOX_ENST00000395733.3_Silent_p.A224A	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	268					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACAAGCTGCGGCCCTACTAC	0.662																																						uc003bll.1																			0					0						c.(802-804)CGG>CAG		myo-inositol oxygenase		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	66.0	69.0		803	4.2	1.0	22	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	no	missense	MIOX	NM_017584.5	43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	268/286	50928230	4,13002	2203	4300	6503	SO:0001583	missense	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50928230G>A	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.803G>A	22.37:g.50928230G>A	ENSP00000216075:p.Arg268Gln					MIOX_uc003blm.1_Silent_p.A263A|MIOX_uc003bln.1_Silent_p.A224A	p.R268Q	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	917	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	268					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	c.803G>A	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351419	0.61183	2.27E-4	3.49E-4	ENSG00000100253	ENST00000216075;ENST00000451761	.	.	.	5.22	4.2	0.49525	.	0.062093	0.64402	D	0.000007	T	0.46776	0.1410	L	0.39397	1.21	0.80722	D	1	B	0.14438	0.01	B	0.08055	0.003	T	0.46830	-0.9163	9	0.51188	T	0.08	-23.3516	10.8144	0.46567	0.0925:0.0:0.9075:0.0	.	268	Q9UGB7	MIOX_HUMAN	Q	268;248	.	ENSP00000216075:R268Q	R	+	2	0	MIOX	49275096	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.388000	0.44398	2.413000	0.81919	0.655000	0.94253	CGG		0.662	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584	
SCN5A	6331	broad.mit.edu	37	3	38592026	38592026	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr3:38592026C>A	ENST00000333535.4	-	28	5986	c.5837G>T	c.(5836-5838)gGc>gTc	p.G1946V	SCN5A_ENST00000451551.2_Missense_Mutation_p.G1892V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1945V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1913V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1945V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1928V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1892V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1928V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1892V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000413689.1_Missense_Mutation_p.G1946V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1946					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCGATGAGGCCCTCTCGCTC	0.622																																						uc003cio.2																			0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5836-5838)GGC>GTC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						38.0	46.0	44.0					3																	38592026		2070	4192	6262	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592026C>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5837G>T	3.37:g.38592026C>A	ENSP00000328968:p.Gly1946Val					SCN5A_uc003cin.2_Missense_Mutation_p.G1945V|SCN5A_uc003cil.3_Missense_Mutation_p.G1946V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1928V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1913V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1892V	p.G1946V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6031	-	Medulloblastoma(35;0.163)		1946					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5837G>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639836	0.67244	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96073	-3.84;-3.87;-3.87;-3.85;-3.87;-3.84;-3.87;-3.9;-3.85;-3.85	4.95	4.95	0.65309	.	0.108732	0.64402	D	0.000007	D	0.97763	0.9266	M	0.82193	2.58	0.80722	D	1	P;D;D;B;D;B	0.89917	0.784;1.0;0.996;0.404;0.998;0.336	P;D;D;B;D;B	0.91635	0.596;0.999;0.969;0.253;0.979;0.34	D	0.97752	1.0215	10	0.48119	T	0.1	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1892;1913;1928;1946;1945;1946	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1928;1945;1946;1892;1945;1928;1946;1913;1892;1892	ENSP00000398962:G1928V;ENSP00000398266:G1945V;ENSP00000410257:G1946V;ENSP00000388797:G1892V;ENSP00000397915:G1945V;ENSP00000416634:G1928V;ENSP00000328968:G1946V;ENSP00000399524:G1913V;ENSP00000403355:G1892V;ENSP00000413996:G1892V	ENSP00000328968:G1946V	G	-	2	0	SCN5A	38567030	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.624000	0.61254	2.573000	0.86826	0.655000	0.94253	GGC		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SNRK	54861	broad.mit.edu	37	3	43381834	43381834	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr3:43381834A>C	ENST00000296088.7	+	5	1091	c.787A>C	c.(787-789)Att>Ctt	p.I263L	SNRK_ENST00000454177.1_Missense_Mutation_p.I263L|SNRK_ENST00000437827.1_Missense_Mutation_p.I57L|SNRK_ENST00000429705.2_Missense_Mutation_p.I263L	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTTAGAAGAGATTGAAAATCA	0.443																																						uc003cms.3																			0				ovary(3)|stomach(1)|breast(1)|skin(1)	6						c.(787-789)ATT>CTT		SNF related kinase							181.0	177.0	178.0					3																	43381834		1867	4105	5972	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43381834A>C	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.787A>C	3.37:g.43381834A>C	ENSP00000296088:p.Ile263Leu					SNRK_uc003cmt.3_Missense_Mutation_p.I263L|SNRK_uc010hik.2_Missense_Mutation_p.I263L|SNRK_uc011azr.1_Missense_Mutation_p.I57L	p.I263L	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	5	1119	+			263			Protein kinase.			Missense_Mutation	SNP	ENST00000296088.7	37	c.787A>C	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215981	0.79352	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	D;D;D;T	0.82081	-1.57;-1.57;-1.57;-0.68	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102521	0.64402	D	0.000003	T	0.77350	0.4117	N	0.25957	0.775	0.80722	D	1	B	0.34349	0.45	B	0.38056	0.264	T	0.79410	-0.1815	10	0.66056	D	0.02	.	15.5962	0.76583	1.0:0.0:0.0:0.0	.	263	Q9NRH2	SNRK_HUMAN	L	263;263;263;57	ENSP00000401246:I263L;ENSP00000411375:I263L;ENSP00000296088:I263L;ENSP00000409516:I57L	ENSP00000296088:I263L	I	+	1	0	SNRK	43356838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.157000	0.67596	0.533000	0.62120	ATT		0.443	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	
LETM1	3954	broad.mit.edu	37	4	1818642	1818642	+	Splice_Site	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1818642C>T	ENST00000302787.2	-	12	2040		c.e12-1			NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1						cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAAGTCCTAATAAAATT	0.408																																						uc003gdv.2																			0				central_nervous_system(1)	1						c.e12-1		leucine zipper-EF-hand containing transmembrane							78.0	77.0	77.0					4																	1818642		2203	4300	6503	SO:0001630	splice_region_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1818642C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1744-1G>A	4.37:g.1818642C>T							p.D582_splice	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		12	2041	-								B4DED2|Q9UF65	Splice_Site	SNP	ENST00000302787.2	37	c.1744_splice	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	17.67	3.445926	0.63178	.	.	ENSG00000168924	ENST00000302787	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3363	0.90288	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LETM1	1788440	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	6.787000	0.75099	2.505000	0.84491	0.655000	0.94253	.		0.408	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1		Intron
WHSC1	7468	broad.mit.edu	37	4	1978378	1978378	+	Silent	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1978378C>A	ENST00000382895.3	+	23	4229	c.3798C>A	c.(3796-3798)tcC>tcA	p.S1266S	SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.S614S|WHSC1_ENST00000382892.2_Silent_p.S1266S|WHSC1_ENST00000508803.1_Silent_p.S1266S|WHSC1_ENST00000382891.5_Silent_p.S1266S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1266					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACCACCTGTCCTGCCTGGGCC	0.657			T	IGH@	MM																																	uc003gdz.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(3796-3798)TCC>TCA		Wolf-Hirschhorn syndrome candidate 1 protein							66.0	45.0	52.0					4																	1978378		2202	4300	6502	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1978378C>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3798C>A	4.37:g.1978378C>A						WHSC1_uc003geb.3_Silent_p.S1266S|WHSC1_uc003gec.3_Silent_p.S1266S|WHSC1_uc003ged.3_Silent_p.S1266S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.S485S|WHSC1_uc011bvh.1_Silent_p.S327S|WHSC1_uc010icf.2_Silent_p.S614S	p.S1266S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	21	3974	+		all_epithelial(65;1.34e-05)	1266			PHD-type 4; atypical.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.3798C>A	CCDS33940.1																																																																																				0.657	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
FAM193A	8603	broad.mit.edu	37	4	2692666	2692667	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:2692666_2692667delCA	ENST00000324666.5	+	13	2250_2251	c.1899_1900delCA	c.(1897-1902)ttcagafs	p.FR633fs	FAM193A_ENST00000545951.1_Frame_Shift_Del_p.FR633fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.FR633fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.FR633fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.FR655fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	633										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACAGCCAGTTCAGAGTGTCATC	0.53																																						uc010icl.2																			0				ovary(3)	3						c.(1897-1902)TTCAGAfs		hypothetical protein LOC8603																																				SO:0001589	frameshift_variant	8603							g.chr4:2692666_2692667delCA	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1899_1900delCA	4.37:g.2692666_2692667delCA	ENSP00000324587:p.Phe633fs					FAM193A_uc010ick.2_Frame_Shift_Del_p.F833fs|FAM193A_uc003gfd.2_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.1_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.1_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs	p.F633fs	NM_003704	NP_003695	P78312	F193A_HUMAN			13	2250_2251	+			633_634					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	ENST00000324666.5	37	c.1899_1900delCA	CCDS58875.1																																																																																				0.530	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
USP46	64854	broad.mit.edu	37	4	53468067	53468067	+	Silent	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:53468067C>G	ENST00000441222.3	-	7	1060	c.876G>C	c.(874-876)ctG>ctC	p.L292L	USP46_ENST00000508499.1_Silent_p.L285L|USP46_ENST00000451218.2_Silent_p.L265L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	292	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACATGCGGTCCAGGTTCACTG	0.537																																						uc003gzn.2																			0				ovary(1)	1						c.(874-876)CTG>CTC		ubiquitin specific peptidase 46 isoform 1							110.0	107.0	108.0					4																	53468067		2076	4216	6292	SO:0001819	synonymous_variant	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53468067C>G	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.876G>C	4.37:g.53468067C>G						USP46_uc003gzm.3_Silent_p.L285L|USP46_uc011bzr.1_Silent_p.L269L|USP46_uc011bzs.1_Silent_p.L176L	p.L292L	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		7	1061	-			292					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	ENST00000441222.3	37	c.876G>C	CCDS47053.1																																																																																				0.537	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832	
PRR27	401137	broad.mit.edu	37	4	71024299	71024299	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:71024299G>A	ENST00000344526.5	+	3	519	c.330G>A	c.(328-330)ccG>ccA	p.P110P	C4orf40_ENST00000502294.1_Silent_p.P110P|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		110	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGTTTCCCGTTTGTCCCTC	0.532																																						uc003hfa.3																			0					0						c.(328-330)CCG>CCA		hypothetical protein LOC401137 precursor							197.0	199.0	198.0					4																	71024299		2203	4300	6503	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71024299G>A																												ENST00000344526.5:c.330G>A	4.37:g.71024299G>A						C4orf40_uc003hfb.3_Silent_p.P110P	p.P110P	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN			4	403	+			110					A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.330G>A	CCDS3535.1																																																																																				0.532	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1		
PRDM5	11107	broad.mit.edu	37	4	121720881	121720884	+	Frame_Shift_Del	DEL	CAAT	CAAT	-	rs34666716	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:121720881_121720884delCAAT	ENST00000264808.3	-	9	1202_1205	c.962_965delATTG	c.(961-966)gattgtfs	p.DC321fs	PRDM5_ENST00000428209.2_Frame_Shift_Del_p.DC290fs|PRDM5_ENST00000515109.1_Frame_Shift_Del_p.DC290fs	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	321					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTCTTGACAATCAAATATCTC	0.309																																						uc003idn.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(961-966)GATTGTfs		PR domain containing 5																																				SO:0001589	frameshift_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121720881_121720884delCAAT	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.962_965delATTG	4.37:g.121720881_121720884delCAAT	ENSP00000264808:p.Asp321fs					PRDM5_uc003ido.2_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.2_Frame_Shift_Del_p.D290fs	p.D321fs	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			9	1212_1215	-			321_322			C2H2-type 6.		Q0VAI9|Q0VAJ0|Q6NXQ7	Frame_Shift_Del	DEL	ENST00000264808.3	37	c.962_965delATTG	CCDS3716.1																																																																																				0.309	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2		
GPR98	84059	broad.mit.edu	37	5	89981612	89981612	+	Missense_Mutation	SNP	G	G	A	rs572910896		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:89981612G>A	ENST00000405460.2	+	29	6386	c.6290G>A	c.(6289-6291)cGt>cAt	p.R2097H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2097			R -> C (in dbSNP:rs16868974).		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCTCCACGTCTTGGGCCT	0.423																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6289-6291)CGT>CAT		G protein-coupled receptor 98 precursor							89.0	77.0	81.0					5																	89981612		1866	4115	5981	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981612G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6290G>A	5.37:g.89981612G>A	ENSP00000384582:p.Arg2097His					GPR98_uc003kjt.2_5'UTR	p.R2097H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6386	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2097			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6290G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503515	0.85176	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29142	1.58	5.8	5.8	0.92144	.	0.145914	0.64402	D	0.000006	T	0.58032	0.2094	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.58792	-0.7574	10	0.87932	D	0	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	2097	Q8WXG9	GPR98_HUMAN	H	2097	ENSP00000384582:R2097H	ENSP00000296619:R2097H	R	+	2	0	GPR98	90017368	1.000000	0.71417	0.952000	0.39060	0.804000	0.45430	6.189000	0.72051	2.736000	0.93811	0.591000	0.81541	CGT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ADAMTS19	171019	broad.mit.edu	37	5	128957961	128957961	+	Missense_Mutation	SNP	C	C	G	rs571424490		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:128957961C>G	ENST00000274487.4	+	10	1817	c.1672C>G	c.(1672-1674)Ctg>Gtg	p.L558V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	558	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCCCTCCAAGCTGCCAGGGAT	0.468																																						uc003kvb.1																			0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1672-1674)CTG>GTG		ADAM metallopeptidase with thrombospondin type 1							161.0	137.0	145.0					5																	128957961		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128957961C>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1672C>G	5.37:g.128957961C>G	ENSP00000274487:p.Leu558Val					ADAMTS19_uc010jdh.1_RNA	p.L558V	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	10	1672	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	558			Disintegrin.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1672C>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084120	0.36758	.	.	ENSG00000145808	ENST00000274487	T	0.67698	-0.28	4.42	1.35	0.21983	Metallopeptidase, catalytic domain (1);	0.000000	0.53938	D	0.000044	T	0.62405	0.2425	M	0.86028	2.79	0.43673	D	0.996102	P	0.35174	0.488	B	0.31390	0.129	T	0.57447	-0.7810	9	.	.	.	.	6.562	0.22491	0.0:0.5393:0.2532:0.2074	.	558	Q8TE59	ATS19_HUMAN	V	558	ENSP00000274487:L558V	.	L	+	1	2	ADAMTS19	128985860	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	1.050000	0.30404	0.265000	0.21872	0.585000	0.79938	CTG		0.468	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
GABRA6	2559	broad.mit.edu	37	5	161116169	161116169	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:161116169C>A	ENST00000274545.5	+	4	873	c.440C>A	c.(439-441)aCc>aAc	p.T147N	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.T137N			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	147					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTTTATACACCATGAGGTGA	0.373										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(439-441)ACC>AAC		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						76.0	74.0	75.0					5																	161116169		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116169C>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.440C>A	5.37:g.161116169C>A	ENSP00000274545:p.Thr147Asn	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.T147N	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	778	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	147			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.440C>A	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.773530|4.773530	0.90108|0.90108	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	.|T;T;T;T	.|0.79033	.|-1.23;-1.23;-1.23;-1.23	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82779|0.82779	0.5111|0.5111	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|P	.|0.41848	.|0.763	.|P	.|0.52758	.|0.708	T|T	0.83326|0.83326	-0.0015|-0.0015	5|10	.|0.66056	.|D	.|0.02	.|.	19.6287|19.6287	0.95691|0.95691	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147	.|Q16445	.|GBRA6_HUMAN	T|N	87|147;137;94;42	.|ENSP00000274545:T147N;ENSP00000430527:T137N;ENSP00000430212:T94N;ENSP00000427989:T42N	.|ENSP00000274545:T147N	P|T	+|+	1|2	0|0	GABRA6|GABRA6	161048747|161048747	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	7.684000|7.684000	0.84104|0.84104	2.710000|2.710000	0.92621|0.92621	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.373	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
DDX41	51428	broad.mit.edu	37	5	176943782	176943782	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:176943782C>G	ENST00000507955.1	-	2	605	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	28				PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGTCGTCCTCATCTTCCGCC	0.706																																						uc003mho.2																			0					0						c.(82-84)GAG>CAG		DEAD-box protein abstrakt							39.0	34.0	36.0					5																	176943782		2202	4299	6501	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943782C>G	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.82G>C	5.37:g.176943782C>G	ENSP00000422753:p.Glu28Gln					DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	p.E28Q	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		2	103	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	28	PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).				B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.82G>C	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038439	0.55003	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28255	1.62;1.63	5.25	4.31	0.51392	.	0.903588	0.09394	N	0.808220	T	0.29190	0.0726	L	0.52011	1.625	0.41014	D	0.985028	B	0.31100	0.308	B	0.29524	0.103	T	0.09185	-1.0686	10	0.41790	T	0.15	-12.7406	9.9979	0.41911	0.1535:0.698:0.1485:0.0	.	28	Q9UJV9	DDX41_HUMAN	Q	46;28	ENSP00000330349:E46Q;ENSP00000422753:E28Q	ENSP00000330349:E46Q	E	-	1	0	DDX41	176876388	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	2.518000	0.45537	2.618000	0.88619	0.591000	0.81541	GAG		0.706	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	
GPR116	221395	broad.mit.edu	37	6	46826114	46826114	+	Missense_Mutation	SNP	C	C	T	rs573068708	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:46826114C>T	ENST00000283296.7	-	17	3814	c.3526G>A	c.(3526-3528)Gcc>Acc	p.A1176T	GPR116_ENST00000545669.1_Missense_Mutation_p.A605T|GPR116_ENST00000456426.2_Missense_Mutation_p.A1034T|GPR116_ENST00000265417.7_Missense_Mutation_p.A1176T|GPR116_ENST00000362015.4_Missense_Mutation_p.A1176T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1176					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGGGATGGCGAAAGCCAGC	0.547													C|||	3	0.000599042	0.0	0.0	5008	,	,		20896	0.0		0.0	False		,,,				2504	0.0031				NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				central_nervous_system(1)|skin(1)	2						c.(3526-3528)GCC>ACC		G-protein coupled receptor 116 precursor							65.0	58.0	60.0					6																	46826114		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826114C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3526G>A	6.37:g.46826114C>T	ENSP00000283296:p.Ala1176Thr					GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T	p.A1176T	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3815	-			1176			Helical; Name=5; (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3526G>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977168	0.34848	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.38	3.61	0.41365	GPCR, family 2-like (1);	0.482695	0.18919	N	0.127533	T	0.28764	0.0713	L	0.43923	1.385	0.29894	N	0.824939	P;P;P;D;P	0.56287	0.839;0.946;0.841;0.975;0.841	B;P;B;P;B	0.55011	0.124;0.523;0.207;0.766;0.207	T	0.07102	-1.0790	10	0.59425	D	0.04	-6.6867	11.8713	0.52520	0.0:0.8586:0.0:0.1414	.	605;731;1176;1034;1176	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	T	1176;1176;1176;1034;547;1176;605	ENSP00000283296:A1176T;ENSP00000354563:A1176T;ENSP00000412866:A1034T;ENSP00000265417:A1176T;ENSP00000441581:A605T	ENSP00000265417:A1176T	A	-	1	0	GPR116	46934073	0.106000	0.21978	0.012000	0.15200	0.506000	0.33950	0.672000	0.25187	0.768000	0.33290	0.650000	0.86243	GCC		0.547	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
NT5E	4907	broad.mit.edu	37	6	86197137	86197137	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:86197137A>G	ENST00000257770.3	+	5	1083	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C	NT5E_ENST00000369651.3_Missense_Mutation_p.Y345C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	345					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ACAATTGTCTATCTGGATGGC	0.393																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3																			0				ovary(3)|central_nervous_system(1)	4						c.(1033-1035)TAT>TGT		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						153.0	148.0	150.0					6																	86197137		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86197137A>G	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1034A>G	6.37:g.86197137A>G	ENSP00000257770:p.Tyr345Cys					NT5E_uc010kbr.2_Missense_Mutation_p.Y345C	p.Y345C	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	5	1590	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	345					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1034A>G	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.33|13.33	2.203920|2.203920	0.38905|0.38905	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000416334;ENST00000437581|ENST00000369647;ENST00000257770;ENST00000369651	.|T;T	.|0.54279	.|0.58;0.58	5.38|5.38	4.14|4.14	0.48551|0.48551	.|5&apos (3);-Nucleotidase, C-terminal (3);	.|0.356685	.|0.33161	.|N	.|0.005210	T|T	0.65502|0.65502	0.2697|0.2697	M|M	0.86097|0.86097	2.795|2.795	0.48901|0.48901	D|D	0.99972|0.99972	.|D;D	.|0.71674	.|0.998;0.996	.|D;D	.|0.68192	.|0.956;0.935	T|T	0.70346|0.70346	-0.4897|-0.4897	5|10	.|0.54805	.|T	.|0.06	-9.9293|-9.9293	11.2181|11.2181	0.48838|0.48838	0.8628:0.0:0.0:0.1372|0.8628:0.0:0.0:0.1372	.|.	.|345;345	.|B3KQI8;P21589	.|.;5NTD_HUMAN	V|C	110;41|121;345;345	.|ENSP00000257770:Y345C;ENSP00000358665:Y345C	.|ENSP00000257770:Y345C	I|Y	+|+	1|2	0|0	NT5E|NT5E	86253856|86253856	0.997000|0.997000	0.39634|0.39634	0.993000|0.993000	0.49108|0.49108	0.417000|0.417000	0.31264|0.31264	2.876000|2.876000	0.48498|0.48498	2.048000|2.048000	0.60808|0.60808	0.455000|0.455000	0.32223|0.32223	ATC|TAT		0.393	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1		
MDN1	23195	broad.mit.edu	37	6	90362720	90362720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:90362720delC	ENST00000369393.3	-	94	15931	c.15816delG	c.(15814-15816)acgfs	p.T5272fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.T5272fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5272					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGGAAGATCGTGTCCATGA	0.338																																						uc003pnn.1																			0				ovary(8)|skin(2)	10						c.(15814-15816)ACGfs		MDN1, midasin homolog							240.0	218.0	225.0					6																	90362720		2203	4300	6503	SO:0001589	frameshift_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90362720delC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15816delG	6.37:g.90362720delC	ENSP00000358400:p.Thr5272fs						p.T5272fs	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	94	15932	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5272					O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	c.15816delG	CCDS5024.1																																																																																				0.338	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MAP3K7	6885	broad.mit.edu	37	6	91281453	91281453	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:91281453A>G	ENST00000369329.3	-	2	355	c.194T>C	c.(193-195)aTa>aCa	p.I65T	MAP3K7_ENST00000369332.3_Missense_Mutation_p.I65T|MAP3K7_ENST00000369327.3_Missense_Mutation_p.I65T|MAP3K7_ENST00000369325.3_Missense_Mutation_p.I65T	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	65	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCACTTTCTATTTGTTTAAT	0.338																																						uc003pnz.1																			0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(193-195)ATA>ACA		mitogen-activated protein kinase kinase kinase 7							152.0	139.0	143.0					6																	91281453		2203	4299	6502	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91281453A>G	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.194T>C	6.37:g.91281453A>G	ENSP00000358335:p.Ile65Thr					MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T	p.I65T	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	356	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	65			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.194T>C	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396282	0.83011	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.039442	0.85682	D	0.000000	T	0.57666	0.2069	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.76494	0.997;0.989;0.999;0.997	D;D;D;D	0.70935	0.926;0.918;0.971;0.97	T	0.65734	-0.6096	10	0.56958	D	0.05	.	15.7394	0.77876	1.0:0.0:0.0:0.0	.	65;65;65;65	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	T	65	ENSP00000358338:I65T;ENSP00000358335:I65T;ENSP00000358331:I65T;ENSP00000358333:I65T	ENSP00000358331:I65T	I	-	2	0	MAP3K7	91338174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.038000	0.93771	2.122000	0.65172	0.455000	0.32223	ATA		0.338	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
SLC16A10	117247	broad.mit.edu	37	6	111498841	111498841	+	Silent	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:111498841T>C	ENST00000368851.5	+	3	1090	c.915T>C	c.(913-915)ttT>ttC	p.F305F	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	305					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTGCACTTTTTGGATACTTTG	0.363																																						uc003pus.2																			0					0						c.(913-915)TTT>TTC		solute carrier family 16, member 10							85.0	82.0	83.0					6																	111498841		2203	4300	6503	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111498841T>C	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.915T>C	6.37:g.111498841T>C						SLC16A10_uc003pur.3_Silent_p.F305F|SLC16A10_uc003put.2_5'UTR	p.F305F	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	3	1090	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	305			Helical; (Potential).		B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.915T>C	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.167|9.167	1.020063|1.020063	0.19433|0.19433	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000419619;ENST00000439288|ENST00000535637	.|.	.|.	.|.	5.41|5.41	-4.39|-4.39	0.03611|0.03611	.|.	.|.	.|.	.|.	.|.	T|T	0.57577|0.57577	0.2063|0.2063	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70342|0.70342	-0.4898|-0.4898	4|5	.|0.72032	.|D	.|0.01	.|.	13.0675|13.0675	0.59043|0.59043	0.0:0.4397:0.0:0.5603|0.0:0.4397:0.0:0.5603	.|.	.|.	.|.	.|.	S|R	191|305	.|.	.|ENSP00000439389:W305R	L|W	+|+	2|1	0|0	SLC16A10|SLC16A10	111605534|111605534	0.974000|0.974000	0.33945|0.33945	0.966000|0.966000	0.40874|0.40874	0.945000|0.945000	0.59286|0.59286	0.066000|0.066000	0.14489|0.14489	-0.693000|-0.693000	0.05121|0.05121	-0.371000|-0.371000	0.07208|0.07208	TTG|TGG		0.363	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2		
RSPH4A	345895	broad.mit.edu	37	6	116938051	116938051	+	Nonsense_Mutation	SNP	G	G	T	rs555565982		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:116938051G>T	ENST00000229554.5	+	1	402	c.265G>T	c.(265-267)Gag>Tag	p.E89*	RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.E89*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E89*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	89					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTCCGCGGGAGCCCTCTTC	0.647									Kartagener syndrome																													uc003pxe.2																			0					0						c.(265-267)GAG>TAG		radial spoke head 4 homolog A isoform 1							37.0	43.0	41.0					6																	116938051		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938051G>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.265G>T	6.37:g.116938051G>T	ENSP00000229554:p.Glu89*					RSPH4A_uc010kee.2_Nonsense_Mutation_p.E89*	p.E89*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	410	+			89					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.265G>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579075	0.86645	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	.	.	.	5.22	0.212	0.15240	.	1.197660	0.06137	N	0.671774	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-2.8373	6.4319	0.21801	0.1692:0.3772:0.4536:0.0	.	.	.	.	X	89	.	ENSP00000229554:E89X	E	+	1	0	RSPH4A	117044744	0.068000	0.21057	0.013000	0.15412	0.028000	0.11728	0.314000	0.19432	0.118000	0.18165	0.650000	0.86243	GAG		0.647	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
RFX6	222546	broad.mit.edu	37	6	117244279	117244279	+	Missense_Mutation	SNP	C	C	A	rs144863251		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:117244279C>A	ENST00000332958.2	+	14	1463	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	483					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.Q483K(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCAAACAAAATGGAAG	0.363																																						uc003pxm.2																			1	Substitution - Missense(1)	p.Q483K(1)	skin(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1447-1449)CAA>AAA		regulatory factor X, 6							134.0	130.0	131.0					6																	117244279		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117244279C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1447C>A	6.37:g.117244279C>A	ENSP00000332208:p.Gln483Lys						p.Q483K	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			14	1510	+			483					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1447C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078474	0.76528	.	.	ENSG00000185002	ENST00000332958	T	0.56776	0.44	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.42245	1.32	0.80722	D	1	P	0.36144	0.539	B	0.31547	0.132	T	0.15093	-1.0449	10	0.15952	T	0.53	-14.8238	19.0347	0.92972	0.0:1.0:0.0:0.0	.	483	Q8HWS3	RFX6_HUMAN	K	483	ENSP00000332208:Q483K	ENSP00000332208:Q483K	Q	+	1	0	RFX6	117350972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.398000	0.79919	2.587000	0.87381	0.491000	0.48974	CAA		0.363	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
CNKSR3	154043	broad.mit.edu	37	6	154743668	154743668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:154743668delT	ENST00000607772.1	-	9	1461	c.917delA	c.(916-918)aacfs	p.N306fs	CNKSR3_ENST00000433165.2_Frame_Shift_Del_p.N131fs|CNKSR3_ENST00000479339.1_Frame_Shift_Del_p.N226fs	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	306					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCACCGTAGGTTTTTCAGGGG	0.448																																						uc003qpy.2																			0				ovary(2)|breast(1)|skin(1)	4						c.(916-918)AACfs		CNKSR family member 3							124.0	133.0	130.0					6																	154743668		2203	4300	6503	SO:0001589	frameshift_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154743668delT	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.917delA	6.37:g.154743668delT	ENSP00000475915:p.Asn306fs						p.N306fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	9	1422	-		Ovarian(120;0.196)	306					Q5SGD5|Q96N65	Frame_Shift_Del	DEL	ENST00000607772.1	37	c.917delA	CCDS5246.1																																																																																				0.448	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	
DLL1	28514	broad.mit.edu	37	6	170599203	170599203	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:170599203G>A	ENST00000366756.3	-	1	358	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	9					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCACCGCCAGGGCCAGCGCG	0.761																																						uc003qxm.2																			0				lung(4)|ovary(1)	5						c.(25-27)CTG>TTG		delta-like 1 precursor							17.0	23.0	21.0					6																	170599203		2099	4158	6257	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170599203G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.25C>T	6.37:g.170599203G>A						DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L	p.L9L	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	1	495	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	9					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.25C>T	CCDS5313.1																																																																																				0.761	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
HOXA6	3203	broad.mit.edu	37	7	27186942	27186942	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:27186942T>G	ENST00000222728.3	-	1	451	c.427A>C	c.(427-429)Atg>Ctg	p.M143L	RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	143					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CAGGAGTTCATCCGCTGCATC	0.562																																						uc003syo.1																			0				ovary(1)|central_nervous_system(1)	2						c.(427-429)ATG>CTG		homeobox A6							81.0	78.0	79.0					7																	27186942		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27186942T>G		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.427A>C	7.37:g.27186942T>G	ENSP00000222728:p.Met143Leu					uc003syp.1_Missense_Mutation_p.S9A	p.M143L	NM_024014	NP_076919	P31267	HXA6_HUMAN			1	427	-			143					A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.427A>C	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	t	14.92	2.680052	0.47886	.	.	ENSG00000106006	ENST00000222728	D	0.95307	-3.67	5.07	5.07	0.68467	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89795	0.6818	L	0.35341	1.055	0.42896	D	0.994219	B	0.18461	0.028	B	0.14023	0.01	D	0.86754	0.1962	10	0.66056	D	0.02	.	9.3977	0.38412	0.0:0.0798:0.0:0.9202	.	143	P31267	HXA6_HUMAN	L	143	ENSP00000222728:M143L	ENSP00000222728:M143L	M	-	1	0	HOXA6	27153467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.883000	0.69721	1.903000	0.55091	0.529000	0.55759	ATG		0.562	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
NME8	51314	broad.mit.edu	37	7	37903981	37903981	+	Silent	SNP	G	G	C	rs199713986		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:37903981G>C	ENST00000199447.4	+	9	858	c.486G>C	c.(484-486)ccG>ccC	p.P162P	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.P162P	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	162	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTATCAAACCGGATGCTGTGA	0.284																																						uc003tfn.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(484-486)CCG>CCC		thioredoxin domain containing 3							25.0	27.0	26.0					7																	37903981		2191	4287	6478	SO:0001819	synonymous_variant	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37903981G>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.486G>C	7.37:g.37903981G>C							p.P162P	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			9	858	+			162			NDK 1.		Q9NZH1	Silent	SNP	ENST00000199447.4	37	c.486G>C	CCDS5452.1																																																																																				0.284	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
ABCB1	5243	broad.mit.edu	37	7	87179256	87179256	+	Missense_Mutation	SNP	G	G	A	rs142600685		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:87179256G>A	ENST00000265724.3	-	14	1882	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R425C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	489	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CGGCCATAGCGAATGTTTTCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20930	0.0		0.0	False		,,,				2504	0.0					uc003uiz.1																			0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1465-1467)CGC>TGC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	236.0	218.0	224.0		1465	5.3	1.0	7	dbSNP_134	224	0,8600		0,0,4300	yes	missense	ABCB1	NM_000927.4	180	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	489/1281	87179256	6,13000	2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179256G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1465C>T	7.37:g.87179256G>A	ENSP00000265724:p.Arg489Cys					ABCB1_uc011khc.1_Missense_Mutation_p.R425C	p.R489C	NM_000927	NP_000918	P08183	MDR1_HUMAN			14	1883	-	Esophageal squamous(14;0.00164)		489			ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1465C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858540	0.71834	0.001362	0.0	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90955	-2.76;-2.76	6.16	5.29	0.74685	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.048148	0.85682	D	0.000000	D	0.93074	0.7795	M	0.64260	1.97	0.80722	D	1	B;P	0.49862	0.256;0.929	B;P	0.56216	0.116;0.794	D	0.93216	0.6604	10	0.54805	T	0.06	-11.5298	15.7393	0.77876	0.0651:0.0:0.9349:0.0	.	425;489	B5AK60;P08183	.;MDR1_HUMAN	C	270;489;425	ENSP00000265724:R489C;ENSP00000444095:R425C	ENSP00000265724:R489C	R	-	1	0	ABCB1	87017192	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.779000	0.47734	1.622000	0.50330	0.650000	0.86243	CGC		0.428	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
MCM7	4176	broad.mit.edu	37	7	99693696	99693696	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:99693696C>T	ENST00000303887.5	-	11	1941	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_Silent_p.G256G|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	432	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCAGGGCCCCACCCTCTA	0.612																																						uc003usw.1																			0					0						c.(1294-1296)GGG>GGA		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						59.0	55.0	57.0					7																	99693696		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693696C>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1296G>A	7.37:g.99693696C>T						MCM7_uc003usv.1_Silent_p.G256G|MCM7_uc003usx.1_Silent_p.G256G|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank	p.G432G	NM_005916	NP_005907	P33993	MCM7_HUMAN			11	1806	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		432			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.1296G>A	CCDS5683.1																																																																																				0.612	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
MUC17	140453	broad.mit.edu	37	7	100681846	100681846	+	Silent	SNP	C	C	T	rs138267850		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:100681846C>T	ENST00000306151.4	+	3	7213	c.7149C>T	c.(7147-7149)gaC>gaT	p.D2383D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2383	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGCTGACGATACTAGCA	0.498													N|||	1	0.000199681	0.0	0.0	5008	,	,		28825	0.001		0.0	False		,,,				2504	0.0					uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7147-7149)GAC>GAT		mucin 17 precursor							296.0	288.0	291.0					7																	100681846		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681846C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7149C>T	7.37:g.100681846C>T						MUC17_uc010lho.1_RNA	p.D2383D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7202	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2383			Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7149C>T	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
PIK3CG	5294	broad.mit.edu	37	7	106508257	106508257	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:106508257C>T	ENST00000359195.3	+	2	561	c.251C>T	c.(250-252)gCg>gTg	p.A84V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A84V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A84V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	84	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCAGCGTGGCGGCGGACTTC	0.637																																						uc003vdv.3																			0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(250-252)GCG>GTG		phosphoinositide-3-kinase, catalytic, gamma							24.0	27.0	26.0					7																	106508257		2200	4296	6496	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508257C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.251C>T	7.37:g.106508257C>T	ENSP00000352121:p.Ala84Val					PIK3CG_uc003vdu.2_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A84V	p.A84V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	336	+			84					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.251C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.305692	0.00240	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69306	-0.39;-0.39;-0.39	5.52	2.63	0.31362	.	0.361256	0.35320	N	0.003297	T	0.38480	0.1042	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.18276	T	0.48	-8.052	5.7313	0.18040	0.386:0.4717:0.0:0.1423	.	84	P48736	PK3CG_HUMAN	V	84	ENSP00000392258:A84V;ENSP00000419260:A84V;ENSP00000352121:A84V	ENSP00000352121:A84V	A	+	2	0	PIK3CG	106295493	0.424000	0.25490	0.012000	0.15200	0.088000	0.18126	1.084000	0.30828	0.754000	0.32968	0.557000	0.71058	GCG		0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
EBF2	64641	broad.mit.edu	37	8	25766052	25766052	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr8:25766052G>T	ENST00000520164.1	-	7	1108	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	EBF2_ENST00000408929.3_Missense_Mutation_p.L43I	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	191					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCACTTGAGGAAAAATTTT	0.363																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			0				ovary(3)|skin(1)	4						c.(571-573)CTC>ATC		early B-cell factor 2							66.0	65.0	65.0					8																	25766052		1818	4100	5918	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25766052G>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.571C>A	8.37:g.25766052G>T	ENSP00000430241:p.Leu191Ile					PPP2R2A_uc003xek.2_Intron	p.L191I	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	7	588	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	191					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.571C>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656011	0.88056	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.54479	0.58;0.57	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000008	T	0.64853	0.2636	M	0.75615	2.305	0.80722	D	1	B	0.33777	0.425	B	0.41813	0.367	T	0.66184	-0.5987	10	0.87932	D	0	-1.0565	20.3473	0.98799	0.0:0.0:1.0:0.0	.	191	Q9HAK2	COE2_HUMAN	I	191;43	ENSP00000430241:L191I;ENSP00000386178:L43I	ENSP00000386178:L43I	L	-	1	0	EBF2	25821969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.884000	0.98904	0.655000	0.94253	CTC		0.363	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	
TMC1	117531	broad.mit.edu	37	9	75441788	75441789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:75441788_75441789insA	ENST00000297784.5	+	21	2547_2548	c.2007_2008insA	c.(2008-2010)aaafs	p.K670fs	TMC1_ENST00000396237.3_Frame_Shift_Ins_p.K670fs|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.K670fs|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	670					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CCCCCAGTGGCAAAAATAGAAT	0.411																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				ovary(1)	1						c.(2005-2010)GGCAAAfs		transmembrane channel-like 1																																				SO:0001589	frameshift_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75441788_75441789insA	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2012dupA	9.37:g.75441793_75441793dupA	ENSP00000297784:p.Lys670fs					TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs	p.G669fs	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			21	2547_2548	+			669_670			Extracellular (Potential).		A8MVZ2|B1AM91	Frame_Shift_Ins	INS	ENST00000297784.5	37	c.2007_2008insA	CCDS6643.1																																																																																				0.411	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
ACTL7B	10880	broad.mit.edu	37	9	111618206	111618206	+	Missense_Mutation	SNP	G	G	A	rs139165156		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:111618206G>A	ENST00000374667.3	-	1	1033	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	2						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTCCTTGTCGCCATCTGCCT	0.667																																						uc004bdi.2																			0				pancreas(1)	1						c.(4-6)GCG>GTG		actin-like 7B		G	VAL/ALA	0,4406		0,0,2203	51.0	51.0	51.0		5	3.1	0.9	9	dbSNP_134	51	2,8598	2.2+/-6.3	0,2,4298	no	missense	ACTL7B	NM_006686.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	2/416	111618206	2,13004	2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618206G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.5C>T	9.37:g.111618206G>A	ENSP00000363799:p.Ala2Val						p.A2V	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	70	-			2					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.5C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854006	0.32791	0.0	2.33E-4	ENSG00000148156	ENST00000374667	D	0.95238	-3.65	3.99	3.1	0.35709	.	3.053800	0.01834	U	0.034870	D	0.86297	0.5899	N	0.08118	0	0.28052	N	0.933304	P	0.39181	0.663	B	0.21360	0.034	T	0.81239	-0.1023	10	0.87932	D	0	.	8.9636	0.35863	0.0:0.0:0.7784:0.2216	.	2	Q9Y614	ACL7B_HUMAN	V	2	ENSP00000363799:A2V	ENSP00000363799:A2V	A	-	2	0	ACTL7B	110658027	0.083000	0.21467	0.888000	0.34837	0.160000	0.22226	0.798000	0.27014	0.915000	0.36847	-0.218000	0.12543	GCG		0.667	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686	
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612																																						uc004cfe.2																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(790-792)ACG>ATG		alpha 1 type V collagen preproprotein		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116.0	121.0	120.0		791	3.9	1.0	9	dbSNP_134	120	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	264/1839	137620520	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137620520C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.791C>T	9.37:g.137620520C>T	ENSP00000360882:p.Thr264Met						p.T264M	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1173	+		Myeloproliferative disorder(178;0.0341)	264			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.791C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403179	0.42613	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	3.93	3.93	0.45458	.	0.890707	0.09636	U	0.775651	D	0.83166	0.5195	N	0.22421	0.69	0.80722	D	1	P	0.41265	0.744	B	0.36766	0.232	T	0.81127	-0.1074	10	0.59425	D	0.04	.	15.9158	0.79517	0.0:1.0:0.0:0.0	.	264	P20908	CO5A1_HUMAN	M	264	ENSP00000360882:T264M	ENSP00000360882:T264M	T	+	2	0	COL5A1	136760341	0.990000	0.36364	0.994000	0.49952	0.316000	0.28119	6.107000	0.71517	1.724000	0.51502	0.462000	0.41574	ACG		0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
EIF1AX	1964	broad.mit.edu	37	X	20148634	20148634	+	Splice_Site	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:20148634G>A	ENST00000379607.5	-	6	632	c.429C>T	c.(427-429)gaC>gaT	p.D143D	EIF1AX_ENST00000379593.1_Splice_Site_p.D115D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	143					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCTACTTACGTCATCAATAT	0.338																																						uc004czt.2																			0				ovary(1)	1						c.(427-429)GAC>GAT		X-linked eukaryotic translation initiation							157.0	119.0	132.0					X																	20148634		2203	4297	6500	SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148634G>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.429+1C>T	X.37:g.20148634G>A							p.D143D	NM_001412	NP_001403	P47813	IF1AX_HUMAN			6	637	-			143					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Silent	SNP	ENST00000379607.5	37	c.429C>T	CCDS14196.1																																																																																				0.338	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Silent
ZNF674	641339	broad.mit.edu	37	X	46359485	46359485	+	Silent	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:46359485G>T	ENST00000523374.1	-	6	1749	c.1539C>A	c.(1537-1539)atC>atA	p.I513I	ZNF674_ENST00000414387.2_Silent_p.I507I|ZNF674_ENST00000518795.1_5'Flank	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TCTGATGTTTGATGAGAGTTG	0.398																																						uc004dgr.2																			0				breast(2)	2						c.(1537-1539)ATC>ATA		zinc finger family member 674 isoform 1							71.0	67.0	68.0					X																	46359485		2176	4279	6455	SO:0001819	synonymous_variant	641339				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:46359485G>T	AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1539C>A	X.37:g.46359485G>T						ZNF674_uc011mlg.1_Silent_p.I507I	p.I513I	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN			6	1766	-			513			C2H2-type 9.		B4DHE2|E9PHQ4	Silent	SNP	ENST00000523374.1	37	c.1539C>A	CCDS48099.1																																																																																				0.398	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891	
UXT	8409	broad.mit.edu	37	X	47518408	47518408	+	Intron	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:47518408C>T	ENST00000333119.3	-	2	47				UXT_ENST00000460840.1_5'Flank|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000335890.2_5'UTR|RP1-212G6.7_ENST00000591832.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone						centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TCTCTACCCTCTCAACGCTGG	0.642																																						uc011mlt.1																			0					0						c.(82-84)CTC>CTT		SubName: Full=cDNA FLJ53557;							40.0	31.0	34.0					X																	47518408		2203	4300	6503	SO:0001627	intron_variant	100133957							g.chrX:47518408C>T	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.9-73G>A	X.37:g.47518408C>T						UXT_uc004dim.2_5'UTR|UXT_uc004din.2_Intron|LOC100133957_uc011mls.1_Silent_p.L28L	p.L28L	NR_027444						1	157	+								B2R561|Q5JZG3|Q9Y6E5	Silent	SNP	ENST00000333119.3	37	c.84C>T	CCDS14285.1																																																																																				0.642	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477	
ACRC	93953	broad.mit.edu	37	X	70830591	70830591	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:70830591A>G	ENST00000373695.1	+	10	2209	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.S558G			Q96QF7	ACRC_HUMAN	acidic repeat containing	558	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGGCTTATGCAGCACTGGTGA	0.493																																						uc004eae.2																			0				ovary(3)	3						c.(1672-1674)AGC>GGC		ACRC protein							120.0	84.0	96.0					X																	70830591		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70830591A>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1672A>G	X.37:g.70830591A>G	ENSP00000362799:p.Ser558Gly					BCYRN1_uc011mpt.1_Intron	p.S558G	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			11	2173	+	Renal(35;0.156)		558					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1672A>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555446	0.45487	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.45276	0.9;0.9	5.1	2.67	0.31697	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.37865	0.1019	L	0.42245	1.32	0.09310	N	0.999999	P	0.50819	0.939	P	0.50825	0.651	T	0.16837	-1.0389	9	0.27082	T	0.32	.	3.2389	0.06774	0.5305:0.2453:0.2242:0.0	.	558	Q96QF7	ACRC_HUMAN	G	558	ENSP00000362800:S558G;ENSP00000362799:S558G	ENSP00000362799:S558G	S	+	1	0	ACRC	70747316	0.159000	0.22864	0.040000	0.18447	0.069000	0.16628	1.864000	0.39469	1.691000	0.51100	0.371000	0.22339	AGC		0.493	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
RPS4X	6191	broad.mit.edu	37	X	71492579	71492579	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:71492579C>T	ENST00000316084.6	-	7	838	c.734G>A	c.(733-735)cGc>cAc	p.R245H	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	245					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					AATGGTGAGGCGGATACCCTT	0.488																																						uc004ear.2																			0					0						c.(733-735)CGC>CAC		ribosomal protein S4, X-linked X isoform							51.0	42.0	45.0					X																	71492579		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71492579C>T		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.734G>A	X.37:g.71492579C>T	ENSP00000362744:p.Arg245His						p.R245H	NM_001007	NP_000998	P62701	RS4X_HUMAN			7	830	-	Renal(35;0.156)		245					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.734G>A	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204327	0.58234	.	.	ENSG00000198034	ENST00000316084	T	0.27557	1.66	4.52	3.63	0.41609	.	0.000000	0.64402	D	0.000001	T	0.24774	0.0601	L	0.45352	1.415	0.80722	D	1	B	0.14012	0.009	B	0.06405	0.002	T	0.11397	-1.0589	10	0.66056	D	0.02	.	8.9506	0.35788	0.0:0.886:0.0:0.114	.	245	P62701	RS4X_HUMAN	H	245	ENSP00000362744:R245H	ENSP00000362744:R245H	R	-	2	0	RPS4X	71409304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.858000	0.69532	1.970000	0.57323	0.594000	0.82650	CGC		0.488	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007	
COL4A6	1288	broad.mit.edu	37	X	107407829	107407829	+	Splice_Site	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:107407829C>A	ENST00000372216.4	-	40	4173		c.e40+1		COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000394872.2_Splice_Site	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTCAACTTACCTCTTGGCCC	0.592									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.e40+1		type IV alpha 6 collagen isoform A precursor							177.0	167.0	170.0					X																	107407829		2203	4300	6503	SO:0001630	splice_region_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107407829C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4072+1G>T	X.37:g.107407829C>A						COL4A6_uc004env.3_Splice_Site_p.G1357_splice|COL4A6_uc011msn.1_Splice_Site_p.G1333_splice|COL4A6_uc010npk.2_Intron|COL4A6_uc010npj.2_5'Flank	p.G1358_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			40	4175	-								Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	SNP	ENST00000372216.4	37	c.4072_splice	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603301	0.66445	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8165	0.88635	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A6	107294485	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.136000	0.64783	2.335000	0.79485	0.600000	0.82982	.		0.592	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Intron
MAGEC2	51438	broad.mit.edu	37	X	141291591	141291591	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:141291591C>T	ENST00000247452.3	-	3	530	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	61					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAGAATCAGAGAAGAGG	0.532										HNSCC(46;0.14)																												uc004fbu.1																			0				breast(2)	2						c.(181-183)CTG>CTA		melanoma antigen family C, 2							77.0	77.0	77.0					X																	141291591		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291591C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.183G>A	X.37:g.141291591C>T		HNSCC(46;0.14)					p.L61L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	531	-	Acute lymphoblastic leukemia(192;6.56e-05)		61					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.183G>A	CCDS14678.1																																																																																				0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
