#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
FAM13C	220965	broad.mit.edu	37	10	61028449	61028449	+	Missense_Mutation	SNP	G	G	A	rs138913406	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:61028449G>A	ENST00000373868.2	-	8	893	c.806C>T	c.(805-807)cCg>cTg	p.P269L	FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P186L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	269										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAACTCCGCGGCCTGCAGTG	0.493													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17659	0.0		0.0	False		,,,				2504	0.0					ENST00000373868.2	1.000000	6.100000e-01	0.910000	7.000000e-01	0.800000	0.808416	0.800000	0.800000																										0				45						c.(805-807)cCg>cTg		family with sequence similarity 13, member C		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	41.0	39.0	40.0		806,557,557,806	6.0	1.0	10	dbSNP_134	40	0,8600		0,0,4300	yes	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	98,98,98,98	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign,benign,benign,benign	269/488,186/503,186/502,269/586	61028449	7,12999	2203	4300	6503	SO:0001583	missense	220965	43	121398	45				g.chr10:61028449G>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.806C>T	chr10.hg19:g.61028449G>A	ENSP00000362975:p.Pro269Leu	0					FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P186L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L	p.P269L	NM_198215.3	NP_937858.2	1	2	3	2.055323	Q8NE31	FA13C_HUMAN		8	893	-			B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	1	1	hg19	c.806C>T	CCDS7255.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.53	2.563159	0.45694	0.001589	0.0	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;0.9;-0.96;-0.96;-0.96;-0.96	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.142017	0.49916	N	0.000133	T	0.77618	0.4157	L	0.39147	1.195	0.80722	D	1	P;B;B;D;B	0.67145	0.487;0.018;0.296;0.996;0.347	B;B;B;P;B	0.53861	0.13;0.018;0.087;0.736;0.083	T	0.72347	-0.4321	10	0.27082	T	0.32	-3.6719	20.5891	0.99427	0.0:0.0:1.0:0.0	.	269;186;269;269;269	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	186;269;290;290;269;186;269;269;47	ENSP00000362974:P186L;ENSP00000362975:P269L;ENSP00000395661:P290L;ENSP00000277705:P290L;ENSP00000391993:P269L;ENSP00000423896:P186L;ENSP00000392302:P269L;ENSP00000400241:P269L;ENSP00000445068:P47L	ENSP00000277705:P290L	P	-	2	0	0	FAM13C	60698455	60698455	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	3.913000	0.56394	2.876000	0.98609	0.650000	0.86243	CCG	0.541239		TCGA-Q3-AA2A-01A-11D-A377-08	0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2	1	0	1	2	2	2	2	0	0	0	0	55	55	55	55	1	1.930000	-3.442381	1	0.540000			0	50	48	0	181	180	1		1	0		0	0	55	0	0	1.000000	1.239826e-01	0	0	0	3	0	50	181
PPP1R3C	5507	broad.mit.edu	37	10	93389892	93389892	+	Missense_Mutation	SNP	T	T	C	rs373998228		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:93389892T>C	ENST00000238994.5	-	2	830	c.746A>G	c.(745-747)aAt>aGt	p.N249S		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTGACCATCATTGTTGTCCCA	0.453																																						ENST00000238994.5	1.000000	8.400000e-01	1.000000	9.200000e-01	0.990000	0.970667	0.990000	1.000000																										0				12						c.(745-747)aAt>aGt		protein phosphatase 1, regulatory subunit 3C							105.0	94.0	98.0					10																	93389892		2203	4300	6503	SO:0001583	missense	5507	2	121412	39				g.chr10:93389892T>C	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.746A>G	chr10.hg19:g.93389892T>C	ENSP00000238994:p.Asn249Ser	0						p.N249S	NM_005398.5	NP_005389.1	1	2	3	2.055323				2	830	-		Colorectal(252;0.235)		Missense_Mutation	SNP	ENST00000238994.5	1	1	hg19	c.746A>G	CCDS7416.1	1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.270056	0.59540	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.76316	-1.01	5.73	3.31	0.37934	5.73	3.31	0.37934	Putative phosphatase regulatory subunit (2);	0.049016	0.85682	D	0.000000	D	0.90689	0.7079	H	0.97491	4.015	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.90361	0.4373	10	0.87932	D	0	-21.2088	8.006	0.30325	0.121:0.0672:0.0:0.8117	.	249	Q9UQK1	PPR3C_HUMAN	S	249;229;131	ENSP00000238994:N249S	ENSP00000238994:N249S	N	-	2	0	0	PPP1R3C	93379872	93379872	1.000000	0.71417	0.882000	0.34594	0.884000	0.51177	6.240000	0.72363	0.954000	0.37851	0.533000	0.62120	AAT	0.541239		TCGA-Q3-AA2A-01A-11D-A377-08	0.453	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	1	0	1	2	2	2	2	0	0	0	0	83	83	83	83	1	1.930000	-20.000000	1	0.540000	NM_005398		0	119	119	0	322	320	1		1	0		0	0	83	0	0	1.000000	1.802628e-01	0	0	0	3	0	119	322
OR8I2	120586	broad.mit.edu	37	11	55861306	55861306	+	Missense_Mutation	SNP	C	C	A	rs144690814	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:55861306C>A	ENST00000302124.2	+	1	554	c.523C>A	c.(523-525)Cat>Aat	p.H175N		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175						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(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAGCATCAATCATTTTTTTTG	0.443																																						ENST00000302124.2	0.260000	1.200000e-01	0.230000	1.500000e-01	0.180000	0.193911	0.180000	0.190000																										0				53						c.(523-525)Cat>Aat		olfactory receptor, family 8, subfamily I, member 2							156.0	148.0	151.0					11																	55861306		2201	4296	6497	SO:0001583	missense	120586	0	0					g.chr11:55861306C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.523C>A	chr11.hg19:g.55861306C>A	ENSP00000303864:p.His175Asn	0						p.H175N	NM_001003750.1	NP_001003750.1	0	0	0	2.043111	Q8N0Y5	OR8I2_HUMAN		1	554	+	Esophageal squamous(21;0.00693)		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	1	0	hg19	c.523C>A	CCDS31517.1	0	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820045	0.50633	.	.	ENSG00000172154	ENST00000302124	T	0.00164	8.64	4.33	4.33	0.51752	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000848	T	0.00300	0.0009	M	0.84156	2.68	0.34928	D	0.74909	B	0.30634	0.288	B	0.35688	0.208	T	0.60831	-0.7185	10	0.72032	D	0.01	-15.4428	16.2092	0.82147	0.0:1.0:0.0:0.0	.	175	Q8N0Y5	OR8I2_HUMAN	N	175	ENSP00000303864:H175N	ENSP00000303864:H175N	H	+	1	0	0	OR8I2	55617882	55617882	0.998000	0.40836	0.998000	0.56505	0.285000	0.27093	2.855000	0.48333	2.115000	0.64714	0.440000	0.28878	CAT	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	121	121	121	120	1	1.930000	-2.804279	1	0.540000	NM_001003750		0	28	27	0	523	514	0		1			0	0	121	0	0	1.000000	0	0	0	0	0	0	28	523
HRASLS5	117245	broad.mit.edu	37	11	63257751	63257751	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:63257751G>A	ENST00000301790.4	-	2	392	c.233C>T	c.(232-234)cCg>cTg	p.P78L	HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L|HRASLS5_ENST00000540857.1_Missense_Mutation_p.P68L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	78							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAATGTGCCCGGCGGAGGCTG	0.493																																						ENST00000301790.4	1.000000	9.800000e-01	1.000000	9.900000e-01	0.990000	0.999439	0.990000	1.000000																										0				14						c.(232-234)cCg>cTg		HRAS-like suppressor family, member 5							185.0	208.0	200.0					11																	63257751		2201	4298	6499	SO:0001583	missense	117245	0	0					g.chr11:63257751G>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.233C>T	chr11.hg19:g.63257751G>A	ENSP00000301790:p.Pro78Leu	0					HRASLS5_ENST00000540857.1_Missense_Mutation_p.P68L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L	p.P78L			0	0	0	2.043111	Q96KN8	HRSL5_HUMAN		2	392	-			B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	1	1	hg19	c.233C>T	CCDS8044.1	1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114974	0.20795	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.26373	1.74;2.24;1.75	3.67	-1.79	0.07932	3.67	-1.79	0.07932	.	2.087150	0.02276	N	0.068944	T	0.13884	0.0336	N	0.14661	0.345	0.09310	N	1	B;P;B	0.41673	0.041;0.759;0.056	B;B;B	0.28305	0.016;0.088;0.019	T	0.38067	-0.9678	10	0.51188	T	0.08	-2.3493	10.9222	0.47171	0.0:0.0:0.5125:0.4875	.	78;68;78	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	68;78;78	ENSP00000444809:P68L;ENSP00000443873:P78L;ENSP00000301790:P78L	ENSP00000301790:P78L	P	-	2	0	0	HRASLS5	63014327	63014327	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.368000	0.07543	-0.331000	0.08501	-1.142000	0.01873	CCG	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	1	0	1	2	2	2	2	0	0	0	0	287	287	287	286	1	1.930000	-20.000000	1	0.540000	NM_054108		0	428	426	0	1039	1026	1		1			0	0	287	0	0	1.000000	0	0	0	0	0	0	428	1039
ITFG2	55846	broad.mit.edu	37	12	2929350	2929350	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:2929350G>A	ENST00000228799.2	+	5	644	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	169					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACATCTGACAGGGCAGCTGGT	0.597																																						ENST00000228799.2	1.000000	7.000000e-02	0.380000	1.200000e-01	0.190000	0.309385	0.190000	0.170000																										0				19						c.(505-507)Ggg>Agg		integrin alpha FG-GAP repeat containing 2							99.0	72.0	81.0					12																	2929350		2203	4300	6503	SO:0001583	missense	55846	0	0					g.chr12:2929350G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.505G>A	chr12.hg19:g.2929350G>A	ENSP00000228799:p.Gly169Arg	1					ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	p.G169R	NM_018463.3	NP_060933.3	0	3	3	2.104904	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)	5	644	+			A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	0	1	hg19	c.505G>A	CCDS8513.1	0	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914335	0.92178	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T;T	0.73152	-0.72;1.97	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87007	0.2120	10	0.72032	D	0.01	-0.3388	16.5494	0.84464	0.0:0.0:1.0:0.0	.	169	Q969R8	ITFG2_HUMAN	R	169;57	ENSP00000228799:G169R;ENSP00000437870:G57R	ENSP00000228799:G169R	G	+	1	0	0	ITFG2	2799611	2799611	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	9.238000	0.95380	2.384000	0.81235	0.561000	0.74099	GGG	0.561320		TCGA-Q3-AA2A-01A-11D-A377-08	0.597	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	1	0	1	2	2	2	2	0	0	0	0	22	22	22	22	1	1.930000	-8.212047	1	0.540000	NM_018463		0	5	5	0	110	110	0		1	1		0	0	22	0	0	0.938952	4.095629e-01	0	2	0	26	0	5	110
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	9.800000e-01	1.000000	9.900000e-01	0.990000	0.998816	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	0	2	2	2.089950	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	55	55	55	55	1	1.930000	-20.000000	1	0.540000	NM_033360		3289	109	108	4738	241	237	1	1	1	0	1	0	0	55	386	1	1.000000	0	1	1	168	0	376	109	241
BTBD11	121551	broad.mit.edu	37	12	107937864	107937864	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:107937864G>A	ENST00000280758.5	+	3	1966	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	480						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCACAAATGGAATGGGAAAA	0.582																																						ENST00000280758.5	1.000000	4.700000e-01	1.000000	5.500000e-01	0.660000	0.715043	0.660000	0.630000																										0				53						c.(1438-1440)Gaa>Aaa		BTB (POZ) domain containing 11							68.0	60.0	63.0					12																	107937864		2203	4300	6503	SO:0001583	missense	121551	0	0					g.chr12:107937864G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1438G>A	chr12.hg19:g.107937864G>A	ENSP00000280758:p.Glu480Lys	1					BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K	p.E480K	NM_001018072.1	NP_001018082.1	0	2	2	2.089950	A6QL63	BTBDB_HUMAN		3	1966	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	1	1	hg19	c.1438G>A	CCDS31893.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.356457	0.95854	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.74150	-0.3758	10	0.72032	D	0.01	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	480;480;480	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	480;480;480;111;114	ENSP00000280758:E480K;ENSP00000413889:E480K;ENSP00000447319:E480K;ENSP00000447606:E111K;ENSP00000407416:E114K	ENSP00000280758:E480K	E	+	1	0	0	BTBD11	106461994	106461994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	2	2	2	2	0	0	0	0	53	53	53	53	1	1.930000	-20.000000	1	0.540000	NM_152322		0	40	39	0	194	191	1		1			0	0	53	0	0	1.000000	0	0	0	0	0	0	40	194
MTUS2	23281	broad.mit.edu	37	13	29600312	29600312	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:29600312C>T	ENST00000431530.3	+	1	1565	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAAAGTGGCCGCTCAGAAGC	0.502																																						ENST00000431530.3	0.960000	5.600000e-01	0.860000	6.500000e-01	0.750000	0.762238	0.750000	0.750000																										0				20						c.(1507-1509)Cgc>Tgc		microtubule associated tumor suppressor candidate 2							79.0	84.0	83.0					13																	29600312		1973	4142	6115	SO:0001583	missense	23281	2	120900	36				g.chr13:29600312C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1507C>T	chr13.hg19:g.29600312C>T	ENSP00000392057:p.Arg503Cys	0						p.R503C	NM_001033602.2	NP_001028774.2	0	0	0	2.004205	Q5JR59	MTUS2_HUMAN		1	1565	+			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	1	1	hg19	c.1507C>T	CCDS45022.1	0	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130528	0.37630	.	.	ENSG00000132938	ENST00000431530	T	0.12039	2.72	5.92	-8.99	0.00751	5.92	-8.99	0.00751	.	1.333950	0.04700	N	0.415575	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	9	.	.	.	.	5.915	0.19050	0.1411:0.5246:0.2381:0.0962	.	493	Q5JR59	MTUS2_HUMAN	C	503	ENSP00000392057:R503C	.	R	+	1	0	0	MTUS2	28498312	28498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.104000	0.10923	-0.703000	0.05049	-1.283000	0.01379	CGC	0.534978		TCGA-Q3-AA2A-01A-11D-A377-08	0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	1	0	1	2	2	2	2	0	0	0	0	36	36	36	36	1	1.930000	-20.000000	1	0.540000	XM_166270		0	40	40	0	154	150	1		1			0	0	36	0	0	1.000000	0	0	0	0	0	0	40	154
MAB21L1	4081	broad.mit.edu	37	13	36049899	36049899	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:36049899C>T	ENST00000379919.4	-	1	933	c.377G>A	c.(376-378)cGc>cAc	p.R126H	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	126					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCGGATTTTGCGCGCCGAGAG	0.587																																						ENST00000379919.4	0.200000	2.000000e-02	0.150000	5.000000e-02	0.090000	0.105343	0.090000	0.080000																										0				20						c.(376-378)cGc>cAc		mab-21-like 1 (C. elegans)							44.0	45.0	45.0					13																	36049899		2203	4300	6503	SO:0001583	missense	4081	0	0					g.chr13:36049899C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.377G>A	chr13.hg19:g.36049899C>T	ENSP00000369251:p.Arg126His	0					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.R126H	NM_005584.4	NP_005575.1	0	0	0	2.004205	Q13394	MB211_HUMAN		1	933	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	0	1	hg19	c.377G>A	CCDS9353.1	0	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533938	0.85812	.	.	ENSG00000180660	ENST00000379919	T	0.08634	3.07	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06679	-1.0813	10	0.46703	T	0.11	-0.3257	19.7375	0.96212	0.0:1.0:0.0:0.0	.	126	Q13394	MB211_HUMAN	H	126	ENSP00000369251:R126H	ENSP00000369251:R126H	R	-	2	0	0	MAB21L1	34947899	34947899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	CGC	0.534978		TCGA-Q3-AA2A-01A-11D-A377-08	0.587	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	0	0	1	2	2	2	2	0	0	0	0	35	35	35	33	1	1.930000	-3.082443	1	0.540000	NM_005584		0	4	4	0	167	164	0		1			0	0	35	0	0	0.887125	0	0	0	0	0	0	4	167
TFDP1	7027	broad.mit.edu	37	13	114265370	114265370	+	Silent	SNP	C	C	T	rs144432965	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:114265370C>T	ENST00000375370.5	+	3	284	c.72C>T	c.(70-72)ccC>ccT	p.P24P	TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_5'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACCTTAGTCCCGGGAAAGGTA	0.443										TSP Lung(29;0.18)																												ENST00000375370.5	1.000000	7.200000e-01	0.930000	7.800000e-01	0.850000	0.862681	0.850000	0.860000																										0				26						c.(70-72)ccC>ccT		transcription factor Dp-1		C		1,4405	2.1+/-5.4	0,1,2202	155.0	145.0	148.0		72	1.7	1.0	13	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		24/411	114265370	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7027	5	121412	41				g.chr13:114265370C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.72C>T	chr13.hg19:g.114265370C>T		0	TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_5'UTR	p.P24P	NM_007111.4	NP_009042.1	0	0	0	2.004205	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)	3	284	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	1	1	hg19	c.72C>T	CCDS9538.1	1																																																																																								0.534978		TCGA-Q3-AA2A-01A-11D-A377-08	0.443	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	1	0	1	2	2	2	2	0	0	0	0	104	104	104	104	1	1.930000	-3.930518	1	0.540000	NM_007111		0	110	110	0	358	357	1		1	1		0	0	104	0	0	1.000000	9.768027e-01	0	8	0	14	0	110	358
RNASE7	84659	broad.mit.edu	37	14	21511178	21511178	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:21511178C>T	ENST00000298690.4	+	2	284	c.27C>T	c.(25-27)tgC>tgT	p.C9C	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	9					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGGATTCTGCCCCCTTCTGC	0.572																																						ENST00000298690.4	0.250000	3.000000e-02	0.190000	7.000000e-02	0.110000	0.132039	0.110000	0.100000																										0				6						c.(25-27)tgC>tgT		ribonuclease, RNase A family, 7							40.0	39.0	39.0					14																	21511178		2200	4300	6500	SO:0001819	synonymous_variant	84659	1	121404	31				g.chr14:21511178C>T	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.27C>T	chr14.hg19:g.21511178C>T		0					NDRG2_ENST00000403829.3_Intron	p.C9C	NM_032572.3	NP_115961	0	1	1	2.032509	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	2	284	+	all_cancers(95;0.000759)		P80927|P83685|Q546N3	Silent	SNP	ENST00000298690.4	0	1	hg19	c.27C>T	CCDS41914.1	0																																																																																								0.538755		TCGA-Q3-AA2A-01A-11D-A377-08	0.572	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	0	0	1	2	2	2	2	0	0	0	0	29	29	29	29	1	1.930000	-3.442379	1	0.540000	NM_032572		0	4	4	0	133	132	0		1			0	0	29	0	0	0.889776	0	0	0	0	0	0	4	133
C15orf59	388135	broad.mit.edu	37	15	74032307	74032307	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:74032307G>A	ENST00000569673.1	-	3	2037	c.833C>T	c.(832-834)aCg>aTg	p.T278M	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	278										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCAGAACCGTCTGCGTGCT	0.592																																						ENST00000569673.1	0.060000	0	0.050000	1.000000e-02	0.020000	0.032379	0.020000	0.030000																										0				15						c.(832-834)aCg>aTg		chromosome 15 open reading frame 59							101.0	108.0	106.0					15																	74032307		2198	4297	6495	SO:0001583	missense	388135	2	121410	31				g.chr15:74032307G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.833C>T	chr15.hg19:g.74032307G>A	ENSP00000457205:p.Thr278Met	0					C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M|C15orf59_ENST00000558834.1_5'UTR	p.T278M			0	0	0	2.039928	Q2T9L4	CO059_HUMAN		3	2037	-				Missense_Mutation	SNP	ENST00000569673.1	0	1	hg19	c.833C>T	CCDS32289.1	0	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338827	0.81911	.	.	ENSG00000205363	ENST00000379822	T	0.68903	-0.36	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	278	Q2T9L4	CO059_HUMAN	M	278	ENSP00000369150:T278M	ENSP00000369150:T278M	T	-	2	0	0	C15orf59	71819360	71819360	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.060000	0.93907	2.354000	0.79902	0.561000	0.74099	ACG	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.592	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	0	0	1	2	2	2	2	0	0	0	0	211	211	211	202	1	1.930000	-2.538441	1	0.540000	NM_001039614		0	7	7	0	881	860	0		1	0		0	0	211	0	0	0.978896	9.059202e-05	0	0	0	2	0	7	881
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:8988948C>T	ENST00000344836.4	-	28	3177	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	USP7_ENST00000535863.1_Silent_p.A894A|USP7_ENST00000381886.4_Silent_p.A977A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	993					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A993A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTGGAAATGCGCCACTGTGA	0.502																																						ENST00000344836.4	0.050000	0	0.030000	0	0.010000	0.032276	0.010000	0.020000																										1	Substitution - coding silent(1)	p.A993A(1)	large_intestine(1)	48						c.(2977-2979)gcG>gcA		ubiquitin specific peptidase 7 (herpes virus-associated)							266.0	247.0	254.0					16																	8988948		2197	4300	6497	SO:0001819	synonymous_variant	7874	7	121412	45				g.chr16:8988948C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2979G>A	chr16.hg19:g.8988948C>T		0					USP7_ENST00000381886.4_Silent_p.A977A|USP7_ENST00000535863.1_Silent_p.A894A	p.A993A	NM_003470.2	NP_003461.2	1	2	3	2.062951	Q93009	UBP7_HUMAN		28	3177	-			A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	0	1	hg19	c.2979G>A	CCDS32385.1	0																																																																																								0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	0	0	1	2	2	2	2	0	0	0	0	290	290	290	289	1	1.930000	-1.985829	0	0.540000			0	7	7	0	1251	1237	0		1	0		0	0	290	0	0	0.979785	1.738788e-01	0	0	0	117	0	7	1251
DNAH2	146754	broad.mit.edu	37	17	7708357	7708357	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708357G>C	ENST00000572933.1	+	60	10725	c.9265G>C	c.(9265-9267)Gaa>Caa	p.E3089Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3089	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAAGATCTAGAAGAGGCACT	0.582																																						ENST00000572933.1	1.000000	7.500000e-01	1.000000	8.300000e-01	0.910000	0.912645	0.910000	1.000000																										0				189						c.(9265-9267)Gaa>Caa		dynein, axonemal, heavy chain 2							67.0	73.0	71.0					17																	7708357		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7708357G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9265G>C	chr17.hg19:g.7708357G>C	ENSP00000458355:p.Glu3089Gln	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q	p.E3089Q			1	2	3	2.065784	Q9P225	DYH2_HUMAN		60	10725	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.9265G>C	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782129	0.70222	.	.	ENSG00000183914	ENST00000389173	T	0.74209	-0.82	4.88	4.88	0.63580	4.88	4.88	0.63580	Dynein heavy chain, coiled coil stalk (1);	0.057608	0.64402	D	0.000002	T	0.71117	0.3302	L	0.37800	1.135	0.80722	D	1	B	0.28258	0.205	B	0.39152	0.292	T	0.66221	-0.5978	10	0.24483	T	0.36	.	16.9512	0.86246	0.0:0.0:1.0:0.0	.	3089	Q9P225	DYH2_HUMAN	Q	3089	ENSP00000373825:E3089Q	ENSP00000373825:E3089Q	E	+	1	0	0	DNAH2	7649082	7649082	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.930000	0.75858	2.541000	0.85698	0.591000	0.81541	GAA	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	1	2	2	2	2	0	0	0	0	83	83	83	82	1	1.930000	-20.000000	1	0.540000	NM_020877		0	94	94	0	288	286	1		1	0		0	0	83	0	0	1.000000	6.168831e-02	0	0	0	2	0	94	288
DNAH2	146754	broad.mit.edu	37	17	7708641	7708641	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708641G>C	ENST00000572933.1	+	61	10832	c.9372G>C	c.(9370-9372)gaG>gaC	p.E3124D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3124	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGTGGAGATAGTGATGC	0.507																																						ENST00000572933.1	1.000000	7.300000e-01	1.000000	8.100000e-01	0.900000	0.902929	0.900000	1.000000																										0				189						c.(9370-9372)gaG>gaC		dynein, axonemal, heavy chain 2							110.0	106.0	107.0					17																	7708641		2203	4300	6503	SO:0001583	missense	146754	1	121412	35				g.chr17:7708641G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9372G>C	chr17.hg19:g.7708641G>C	ENSP00000458355:p.Glu3124Asp	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D	p.E3124D			1	2	3	2.065784	Q9P225	DYH2_HUMAN		61	10832	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.9372G>C	CCDS32551.1	1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918069	0.73098	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	5.62	2.09	0.27110	5.62	2.09	0.27110	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.43757	1.38	0.80722	D	1	P;P	0.40660	0.48;0.726	B;P	0.51297	0.413;0.665	T	0.42155	-0.9468	10	0.25751	T	0.34	.	10.78	0.46371	0.2594:0.0:0.7406:0.0	.	3085;3124	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3085;3124	ENSP00000373825:E3124D	ENSP00000353818:E3085D	E	+	3	2	2	DNAH2	7649366	7649366	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.613000	0.36900	0.724000	0.32296	0.655000	0.94253	GAG	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	0	2	2	2	2	0	0	0	0	70	70	70	70	1	1.930000	-20.000000	1	0.540000	NM_020877		0	81	81	0	252	249	1		1	0		0	0	70	0	0	1.000000	4.528335e-01	0	0	0	6	0	81	252
DNAH2	146754	broad.mit.edu	37	17	7708672	7708672	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708672G>C	ENST00000572933.1	+	61	10863	c.9403G>C	c.(9403-9405)Ggc>Cgc	p.G3135R	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3135	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATTCTTCGAGGCAACGAGCC	0.502																																						ENST00000572933.1	1.000000	6.200000e-01	0.890000	7.000000e-01	0.780000	0.797155	0.780000	0.790000																										0				189						c.(9403-9405)Ggc>Cgc		dynein, axonemal, heavy chain 2							97.0	93.0	94.0					17																	7708672		2203	4300	6503	SO:0001583	missense	146754	0	0					g.chr17:7708672G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9403G>C	chr17.hg19:g.7708672G>C	ENSP00000458355:p.Gly3135Arg	0					DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R	p.G3135R			1	2	3	2.065784	Q9P225	DYH2_HUMAN		61	10863	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	1	1	hg19	c.9403G>C	CCDS32551.1	0	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014629	0.75161	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.83163	-1.69	5.62	5.62	0.85841	5.62	5.62	0.85841	Dynein heavy chain, coiled coil stalk (1);	0.056220	0.64402	D	0.000001	D	0.86104	0.5853	M	0.83774	2.66	0.80722	D	1	B;B	0.32324	0.314;0.364	B;B	0.35240	0.198;0.188	D	0.85682	0.1301	10	0.51188	T	0.08	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	3096;3135	Q9P225-2;Q9P225	.;DYH2_HUMAN	R	3096;3135	ENSP00000373825:G3135R	ENSP00000353818:G3096R	G	+	1	0	0	DNAH2	7649397	7649397	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.688000	0.74557	2.652000	0.90054	0.655000	0.94253	GGC	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	1	0	0	2	2	2	2	0	0	0	0	70	70	70	69	1	1.930000	-20.000000	1	0.540000	NM_020877		0	62	62	0	230	228	1		1	0		0	0	70	0	0	1.000000	3.794125e-01	0	0	0	5	0	62	230
SLC14A2	8170	broad.mit.edu	37	18	43246996	43246996	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr18:43246996A>G	ENST00000255226.6	+	13	2470	c.1654A>G	c.(1654-1656)Agg>Ggg	p.R552G	SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	552					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGGGAAAAGGGTCAGCAA	0.478																																						ENST00000255226.6	0.180000	2.000000e-02	0.140000	4.000000e-02	0.080000	0.096046	0.080000	0.080000																										0				63						c.(1654-1656)Agg>Ggg		solute carrier family 14 (urea transporter), member 2							91.0	84.0	87.0					18																	43246996		2203	4300	6503	SO:0001583	missense	8170	0	0					g.chr18:43246996A>G	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1654A>G	chr18.hg19:g.43246996A>G	ENSP00000255226:p.Arg552Gly	1					SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G|SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|RP11-116O18.3_ENST00000589510.1_RNA	p.R552G	NM_007163.3	NP_009094.3	0	1	1	1.515976	Q15849	UT2_HUMAN		13	2470	+			A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	0	1	hg19	c.1654A>G	CCDS11924.1	0	.	.	.	.	.	.	.	.	.	.	A	6.688	0.495556	0.12762	.	.	ENSG00000132874	ENST00000255226	T	0.36699	1.24	4.37	4.37	0.52481	4.37	4.37	0.52481	.	0.340286	0.24960	N	0.034236	T	0.31544	0.0800	L	0.50333	1.59	0.32344	N	0.559296	B	0.12630	0.006	B	0.20955	0.032	T	0.34950	-0.9808	10	0.38643	T	0.18	-7.2644	9.2009	0.37258	0.8181:0.1819:0.0:0.0	.	552	Q15849	UT2_HUMAN	G	552	ENSP00000255226:R552G	ENSP00000255226:R552G	R	+	1	2	2	SLC14A2	41500994	41500994	0.038000	0.19896	0.307000	0.25127	0.095000	0.18619	0.812000	0.27211	1.827000	0.53221	0.533000	0.62120	AGG	0.369863		TCGA-Q3-AA2A-01A-11D-A377-08	0.478	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1	0	0	1	2	2	2	2	0	0	0	0	43	43	43	43	1	1.930000	-3.620490	1	0.540000			0	4	4	0	133	130	0		1			0	0	43	0	0	0.886233	0	0	0	0	0	0	4	133
CELF5	60680	broad.mit.edu	37	19	3290280	3290280	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:3290280A>G	ENST00000292672.2	+	11	1275	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CELF5_ENST00000541430.2_Silent_p.R374R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	413	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GAGTTTGGAGACACGGAGCTG	0.542																																						ENST00000292672.2	0.140000	0	0.090000	2.000000e-02	0.050000	0.070352	0.050000	0.050000																										0				13						c.(1237-1239)gAc>gGc		CUGBP, Elav-like family member 5							99.0	87.0	91.0					19																	3290280		2203	4300	6503	SO:0001583	missense	60680	0	0					g.chr19:3290280A>G	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1238A>G	chr19.hg19:g.3290280A>G	ENSP00000292672:p.Asp413Gly	0					CELF5_ENST00000541430.2_Silent_p.R374R	p.D413G	NM_021938.3	NP_068757.2	1	2	3	2.071170	Q8N6W0	CELF5_HUMAN		11	1275	+			D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	0	1	hg19	c.1238A>G	CCDS12106.1	0	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355769	0.82243	.	.	ENSG00000161082	ENST00000292672	T	0.17370	2.28	4.32	4.32	0.51571	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52419	-0.8578	10	0.87932	D	0	-20.3383	12.6476	0.56744	1.0:0.0:0.0:0.0	.	413	Q8N6W0	CELF5_HUMAN	G	413	ENSP00000292672:D413G	ENSP00000292672:D413G	D	+	2	0	0	CELF5	3241280	3241280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.258000	0.95555	1.731000	0.51592	0.443000	0.29094	GAC	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.542	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	0	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	1.930000	-2.796573	1	0.540000	NM_021938		0	4	4	0	297	293	0		1			0	0	59	0	0	0.887854	0	0	0	0	0	0	4	297
KPTN	11133	broad.mit.edu	37	19	47986554	47986554	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:47986554G>A	ENST00000338134.3	-	3	499	c.392C>T	c.(391-393)gCc>gTc	p.A131V	KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000595484.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	131					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCACTCACGGGCAATAGAGTC	0.617											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338134.3	0.100000	0	0.070000	2.000000e-02	0.030000	0.054419	0.030000	0.040000																										0				8						c.(391-393)gCc>gTc		kaptin (actin binding protein)							117.0	130.0	126.0					19																	47986554		2086	4201	6287	SO:0001583	missense	11133	0	0					g.chr19:47986554G>A	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.392C>T	chr19.hg19:g.47986554G>A	ENSP00000337850:p.Ala131Val	0		OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	951	NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA	p.A131V	NM_007059.2	NP_008990.2	1	2	3	2.067468	Q9Y664	KPTN_HUMAN		3	499	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	0	1	hg19	c.392C>T	CCDS42583.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.458714	0.96240	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.51	4.51	0.55191	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84270	0.0488	9	0.72032	D	0.01	-25.3185	16.3782	0.83418	0.0:0.0:1.0:0.0	.	131	Q9Y664	KPTN_HUMAN	V	131	.	ENSP00000337850:A131V	A	-	2	0	0	KPTN	52678366	52678366	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.893000	0.92498	2.214000	0.71695	0.491000	0.48974	GCC	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.617	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2	0	0	1	2	2	2	2	0	0	0	0	130	130	130	130	1	1.930000	-2.023109	0	0.540000			0	5	5	0	485	476	0		1	0		0	0	130	0	0	0.934753	7.122411e-03	0	0	0	10	0	5	485
TSKS	60385	broad.mit.edu	37	19	50243356	50243356	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:50243356G>A	ENST00000246801.3	-	10	1664	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	528					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCTTGGCCCGCAGGGCCTCG	0.627																																						ENST00000246801.3	0.110000	0	0.080000	2.000000e-02	0.040000	0.062896	0.040000	0.040000																										0				38						c.(1582-1584)Cgg>Tgg		testis-specific serine kinase substrate							73.0	76.0	75.0					19																	50243356		2203	4300	6503	SO:0001583	missense	60385	4	121390	44				g.chr19:50243356G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1582C>T	chr19.hg19:g.50243356G>A	ENSP00000246801:p.Arg528Trp	0					TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	p.R528W	NM_021733.1	NP_068379.1	1	2	3	2.067468	Q9UJT2	TSKS_HUMAN		10	1664	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	0	1	hg19	c.1582C>T	CCDS12780.1	0	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454044	0.63290	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.49432	0.78;0.78	4.81	3.72	0.42706	4.81	3.72	0.42706	.	0.287773	0.24566	N	0.037427	T	0.50309	0.1608	N	0.24115	0.695	0.32826	D	0.50336	D	0.89917	1.0	D	0.72338	0.977	T	0.59663	-0.7412	10	0.87932	D	0	-27.3869	9.3425	0.38089	0.0:0.0:0.7707:0.2293	.	528	Q9UJT2	TSKS_HUMAN	W	528;328	ENSP00000246801:R528W;ENSP00000351691:R328W	ENSP00000246801:R528W	R	-	1	2	2	TSKS	54935168	54935168	0.523000	0.26274	0.989000	0.46669	0.875000	0.50365	2.024000	0.41049	2.490000	0.84030	0.609000	0.83330	CGG	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.627	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	0	0	1	2	13	2	2	1	1	1	1	120	120	120	120	1	1.930000	-1.872329	0	0.540000	NM_021733		0	5	5	0	408	388	0		0			1	0	120	0	0	0.036004	0	0	0	0	0	0	5	408
PTPRF	5792	broad.mit.edu	37	1	44064491	44064491	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:44064491G>A	ENST00000359947.4	+	13	2560	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000422171.2_Silent_p.Q97Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	740	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCATGGCCAGATCCGCGGCT	0.647																																						ENST00000359947.4	0.720000	3.800000e-01	0.620000	4.500000e-01	0.520000	0.538772	0.520000	0.520000																										0				72						c.(2218-2220)caG>caA		protein tyrosine phosphatase, receptor type, F							62.0	55.0	58.0					1																	44064491		2203	4300	6503	SO:0001819	synonymous_variant	5792	0	0					g.chr1:44064491G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2220G>A	chr1.hg19:g.44064491G>A		0					PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000422171.2_Silent_p.Q97Q	p.Q740Q	NM_002840.3	NP_002831.2	1	2	3	2.063421	P10586	PTPRF_HUMAN		13	2560	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	1	1	hg19	c.2220G>A	CCDS489.2	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.913|8.913	0.959151|0.959151	0.18507|0.18507	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.58308|0.58308	0.2113|0.2113	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56062|0.56062	-0.8041|-0.8041	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.1759:0.0:0.8241:0.0|0.1759:0.0:0.8241:0.0	.|.	.|.	.|.	.|.	N|K	306;163|397	.|.	.|.	D|R	+|+	1|2	0|0	0|0	PTPRF|PTPRF	43837078|43837078	43837078|43837078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.815000|1.815000	0.38981|0.38981	2.143000|2.143000	0.66587|0.66587	0.449000|0.449000	0.29647|0.29647	GAT|AGA	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0	0	1	2	2	2	2	0	0	0	0	66	66	66	66	1	1.930000	-20.000000	1	0.540000			0	38	38	0	231	228	1		1	1		0	0	66	0	0	1.000000	9.626193e-01	0	5	0	30	0	38	231
PRPF38A	84950	broad.mit.edu	37	1	52870463	52870463	+	Silent	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:52870463C>G	ENST00000257181.9	+	1	228	c.42C>G	c.(40-42)ggC>ggG	p.G14G	ORC1_ENST00000371568.3_5'Flank|PRPF38A_ENST00000474048.1_3'UTR|ORC1_ENST00000371566.1_5'Flank	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	14					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GCATCCATGGCACCAACCCTC	0.463											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257181.9	0.600000	3.300000e-01	0.520000	3.900000e-01	0.450000	0.464831	0.450000	0.450000																										0				9						c.(40-42)ggC>ggG		pre-mRNA processing factor 38A							107.0	97.0	100.0					1																	52870463		2203	4300	6503	SO:0001819	synonymous_variant	84950	0	0					g.chr1:52870463C>G	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.42C>G	chr1.hg19:g.52870463C>G		0		OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	ORC1_ENST00000371566.1_5'Flank|PRPF38A_ENST00000474048.1_3'UTR|ORC1_ENST00000371568.3_5'Flank	p.G14G	NM_032864.3	NP_116253.2	1	2	3	2.063421	Q8NAV1	PR38A_HUMAN		1	228	+			Q96JW1|Q9BVZ8	Silent	SNP	ENST00000257181.9	1	1	hg19	c.42C>G	CCDS567.1	0																																																																																								0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.463	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	1	0	0	2	2	2	2	0	0	0	0	66	66	66	66	1	1.930000	-3.318809	1	0.540000	NM_032864		0	46	46	0	332	330	1		1	1		0	0	66	0	0	1.000000	8.536296e-01	0	6	0	21	0	46	332
BCL9	607	broad.mit.edu	37	1	147084715	147084715	+	Silent	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGGTCCGTCCCCCTACAG	0.502			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3	0.120000	1.000000e-02	0.090000	3.000000e-02	0.050000	0.062573	0.050000	0.060000				Dom	yes			Dom	yes		1	1q21	1q21	607	T	B-cell CLL/lymphoma 9				L	L	IGH@, IGL@		B-ALL		0				7						c.(85-87)cgT>cgC		B-cell CLL/lymphoma 9							87.0	90.0	89.0					1																	147084715		2203	4300	6503	SO:0001819	synonymous_variant	607	0	0					g.chr1:147084715T>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.87T>C	chr1.hg19:g.147084715T>C		0					BCL9_ENST00000473292.1_3'UTR	p.R29R	NM_004326.2	NP_004317.2	0	0	0	2.040689	O00512	BCL9_HUMAN		5	827	+	all_hematologic(923;0.115)		Q5T489	Silent	SNP	ENST00000234739.3	0	1	hg19	c.87T>C	CCDS30833.1	0																																																																																								0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.502	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	0	0	1	2	2	2	2	0	0	0	0	66	66	66	65	1	1.930000	-2.389524	0	0.540000	NM_004326		0	5	5	0	347	339	0		1	0		0	0	66	0	0	0.934126	3.194699e-03	0	0	0	5	0	5	347
ZNFX1	57169	broad.mit.edu	37	20	47871123	47871123	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:47871123G>A	ENST00000396105.1	-	10	3114	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	ZNFX1_ENST00000371754.4_Silent_p.Y956Y|ZNFX1_ENST00000371752.1_Silent_p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	956							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGATGTGCGGTACTGGCGTT	0.512																																						ENST00000396105.1	0.070000	0	0.050000	1.000000e-02	0.020000	0.033123	0.020000	0.030000																										0				60						c.(2866-2868)taC>taT		zinc finger, NFX1-type containing 1							190.0	162.0	172.0					20																	47871123		2203	4300	6503	SO:0001819	synonymous_variant	57169	0	0					g.chr20:47871123G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2868C>T	chr20.hg19:g.47871123G>A		0					ZNFX1_ENST00000371754.4_Silent_p.Y956Y|ZNFX1_ENST00000371752.1_Silent_p.Y956Y	p.Y956Y	NM_021035.2	NP_066363.1	0	1	1	2.032949	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	10	3114	-			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	0	1	hg19	c.2868C>T	CCDS13417.1	0																																																																																								0.538755		TCGA-Q3-AA2A-01A-11D-A377-08	0.512	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	0	0	1	2	16	2	2	1	1	1	1	147	147	147	145	1	1.930000	-2.518560	1	0.540000	NM_021035		0	5	5	0	647	639	0		0	0		1	0	147	0	0	0.011594	9.244146e-03	0	0	0	15	0	5	647
CLTCL1	8218	broad.mit.edu	37	22	19209057	19209057	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:19209057G>T	ENST00000263200.10	-	17	2711	c.2639C>A	c.(2638-2640)gCt>gAt	p.A880D	CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	880	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTAGATTTTAGCCAGTGCATT	0.547			T	?	ALCL																																	ENST00000263200.10	1.000000	4.200000e-01	0.900000	5.500000e-01	0.710000	0.724270	0.710000	1.000000				Dom	yes			Dom	yes		22	22q11.21	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""				L	L	?		ALCL		0				49						c.(2638-2640)gCt>gAt		clathrin, heavy chain-like 1							32.0	32.0	32.0					22																	19209057		2080	4247	6327	SO:0001583	missense	8218	0	0					g.chr22:19209057G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2639C>A	chr22.hg19:g.19209057G>T	ENSP00000445677:p.Ala880Asp	0					CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D	p.A880D	NM_007098.3	NP_009029.3	1	2	3	2.071007	P53675	CLH2_HUMAN		17	2711	-	Colorectal(54;0.0993)		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	1	1	hg19	c.2639C>A	CCDS46662.1	0	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083901	0.55861	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23552	1.9;1.9;1.9	3.63	3.63	0.41609	3.63	3.63	0.41609	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.072624	0.53938	D	0.000042	T	0.60919	0.2306	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	T	0.74902	-0.3506	10	0.87932	D	0	-3.9812	15.456	0.75314	0.0:0.0:1.0:0.0	.	880;880	P53675-2;P53675	.;CLH2_HUMAN	D	880	ENSP00000439662:A880D;ENSP00000445677:A880D;ENSP00000441158:A880D	ENSP00000445677:A880D	A	-	2	0	0	CLTCL1	17589057	17589057	1.000000	0.71417	0.968000	0.41197	0.008000	0.06430	8.761000	0.91691	1.880000	0.54463	0.462000	0.41574	GCT	0.542471		TCGA-Q3-AA2A-01A-11D-A377-08	0.547	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	1	0	1	2	2	2	2	0	0	0	0	15	15	15	15	1	1.930000	-20.000000	1	0.540000	NM_007098		0	14	15	0	60	57	1		1	0		0	0	15	0	0	0.999823	4.101162e-02	0	0	0	2	0	14	60
ITGB1BP1	9270	broad.mit.edu	37	2	9547660	9547660	+	Missense_Mutation	SNP	G	G	A	rs17850889	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:9547660G>A	ENST00000360635.3	-	7	1345	c.449C>T	c.(448-450)gCg>gTg	p.A150V	ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	150	PID.			A -> V (in Ref. 4; AAH12264). {ECO:0000305}.	activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTTTTTCCCGCCCCCAGACC	0.483																																						ENST00000360635.3	1.000000	9.200000e-01	1.000000	9.900000e-01	0.990000	0.994599	0.990000	1.000000																										0				8						c.(448-450)gCg>gTg		integrin beta 1 binding protein 1		G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	164.0	138.0	147.0		449,	5.6	1.0	2	dbSNP_123	147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	ITGB1BP1	NM_004763.3,NM_022334.3	64,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,	150/201,	9547660	3,13003	2203	4300	6503	SO:0001583	missense	9270	17	121412	44				g.chr2:9547660G>A	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.449C>T	chr2.hg19:g.9547660G>A	ENSP00000353850:p.Ala150Val	0					ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_5'UTR	p.A150V			0	1	1	2.032441	O14713	ITBP1_HUMAN		7	1345	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	1	1	hg19	c.449C>T	CCDS1662.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.278080	0.95459	4.54E-4	1.16E-4	ENSG00000119185	ENST00000360635;ENST00000355346;ENST00000359712;ENST00000456913	.	.	.	5.61	5.61	0.85477	5.61	5.61	0.85477	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	N	0.24115	0.695	0.80722	D	1	D;D;P	0.71674	0.998;0.99;0.944	P;P;P	0.55011	0.766;0.688;0.507	T	0.57159	-0.7859	9	0.36615	T	0.2	-23.8728	20.0086	0.97443	0.0:0.0:1.0:0.0	rs17850889	106;150;150	B4DQY5;A8MPU2;O14713	.;.;ITBP1_HUMAN	V	150	.	ENSP00000347504:A150V	A	-	2	0	0	ITGB1BP1	9465111	9465111	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	6.824000	0.75288	2.808000	0.96608	0.655000	0.94253	GCG	0.538755		TCGA-Q3-AA2A-01A-11D-A377-08	0.483	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	1	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	1.930000	-7.863670	1	0.540000	NM_004763, NM_022334		0	87	85	0	201	197	1		1	1		0	0	57	0	0	1.000000	1	0	6	0	125	0	87	201
SLC1A4	6509	broad.mit.edu	37	2	65245311	65245311	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:65245311G>A	ENST00000234256.3	+	6	1384	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	381					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GAACATGGACGGAGCAGCCAT	0.512																																						ENST00000234256.3	0.110000	1.000000e-02	0.080000	3.000000e-02	0.050000	0.060706	0.050000	0.060000																										0				13						c.(1141-1143)Gga>Aga		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						133.0	123.0	126.0					2																	65245311		2203	4300	6503	SO:0001583	missense	6509	0	0					g.chr2:65245311G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1141G>A	chr2.hg19:g.65245311G>A	ENSP00000234256:p.Gly381Arg	0					SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	p.G381R	NM_003038.4	NP_003029.2	0	1	1	2.032441	P43007	SATT_HUMAN		6	1384	+			B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	0	1	hg19	c.1141G>A	CCDS1879.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.576656	0.96565	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	D;D	0.84370	-1.84;-1.84	6.17	6.17	0.99709	6.17	6.17	0.99709	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96776	0.9572	9	.	.	.	-12.7631	20.8794	0.99867	0.0:0.0:1.0:0.0	.	381;83;381	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	R	83;301;381	ENSP00000431942:G83R;ENSP00000234256:G381R	.	G	+	1	0	0	SLC1A4	65098815	65098815	1.000000	0.71417	0.283000	0.24790	0.980000	0.70556	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA	0.538755		TCGA-Q3-AA2A-01A-11D-A377-08	0.512	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	0	0	1	2	2	2	2	0	0	0	0	81	81	81	81	1	1.930000	-2.668004	1	0.540000	NM_003038		0	5	5	0	357	350	0		1	0		0	0	81	0	0	0.934703	4.472958e-03	0	0	0	6	0	5	357
TTN	7273	broad.mit.edu	37	2	179410378	179410378	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:179410378C>T	ENST00000591111.1	-	294	90760	c.90536G>A	c.(90535-90537)gGc>gAc	p.G30179D	TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G31820D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30179	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTCTTTGCCAGTCCCAAC	0.423																																						ENST00000591111.1	0.060000	0	0.050000	1.000000e-02	0.020000	0.034226	0.020000	0.040000																										0				1448						c.(90535-90537)gGc>gAc		titin							195.0	186.0	189.0					2																	179410378		1960	4155	6115	SO:0001583	missense	7273	0	0					g.chr2:179410378C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90536G>A	chr2.hg19:g.179410378C>T	ENSP00000465570:p.Gly30179Asp	0					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G31820D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.G30179D			0	0	0	2.015128	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	294	90760	-			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	0	1	hg19	c.90536G>A		0	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615238	0.66672	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.82	5.82	0.92795	5.82	5.82	0.92795	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64034	0.2562	N	0.25957	0.775	0.53005	D	0.999965	D;D;D;D	0.60160	0.987;0.987;0.987;0.987	P;P;P;P	0.58620	0.842;0.842;0.842;0.842	T	0.66787	-0.5835	9	0.87932	D	0	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	22755;22880;22947;30179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	29252;22755;22947;22880;22752	ENSP00000343764:G29252D;ENSP00000434586:G22755D;ENSP00000340554:G22947D;ENSP00000352154:G22880D	ENSP00000340554:G22947D	G	-	2	0	0	TTN	179118624	179118624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.089000	0.71384	2.756000	0.94617	0.563000	0.77884	GGC	0.534978		TCGA-Q3-AA2A-01A-11D-A377-08	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	2	2	2	2	0	0	0	0	173	173	173	172	1	1.930000	-1.942573	0	0.540000	NM_133378		0	7	7	0	833	828	0		1	0		0	0	173	0	0	0.980131	0	0	0	0	1	0	7	833
CNTN3	5067	broad.mit.edu	37	3	74344358	74344358	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:74344358C>T	ENST00000263665.6	-	18	2458	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	811	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGGCTATTTGCAGAGACTTGA	0.383																																						ENST00000263665.6	1.000000	8.200000e-01	1.000000	9.000000e-01	0.990000	0.965860	0.990000	1.000000																										0				83						c.(2431-2433)Gca>Aca		contactin 3 (plasmacytoma associated)							98.0	91.0	94.0					3																	74344358		2203	4300	6503	SO:0001583	missense	5067	1	121406	33				g.chr3:74344358C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2431G>A	chr3.hg19:g.74344358C>T	ENSP00000263665:p.Ala811Thr	0						p.A811T	NM_020872.1	NP_065923.1	0	0	0	2.040625	Q9P232	CNTN3_HUMAN		18	2458	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	1	1	hg19	c.2431G>A	CCDS33790.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619386	0.87460	.	.	ENSG00000113805	ENST00000263665	T	0.60299	0.2	5.63	5.63	0.86233	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176408	0.50627	D	0.000108	T	0.62196	0.2408	M	0.63843	1.955	0.51233	D	0.999919	B	0.27166	0.17	B	0.37692	0.256	T	0.62863	-0.6764	10	0.59425	D	0.04	.	14.528	0.67902	0.1464:0.8535:0.0:0.0	.	811	Q9P232	CNTN3_HUMAN	T	811	ENSP00000263665:A811T	ENSP00000263665:A811T	A	-	1	0	0	CNTN3	74427048	74427048	1.000000	0.71417	0.435000	0.26784	0.996000	0.88848	5.357000	0.66058	2.649000	0.89929	0.650000	0.86243	GCA	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.383	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	1	2	2	2	2	0	0	0	0	72	72	72	72	1	1.930000	-20.000000	1	0.540000	NM_020872		0	90	88	0	243	240	1		1	1		0	0	72	0	0	1.000000	2.991880e-01	0	3	0	1	0	90	243
GABRR3	200959	broad.mit.edu	37	3	97744480	97744480	+	RNA	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:97744480G>A	ENST00000472788.1	-	0	170					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTCTGAGGCCGCGCTTTGGTA	0.383																																						ENST00000472788.1	1.000000	7.100000e-01	1.000000	8.200000e-01	0.950000	0.926947	0.950000	1.000000																										0				3								gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)						165.0	156.0	159.0					3																	97744480		1839	4090	5929			200959	3	120784	35				g.chr3:97744480G>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		chr3.hg19:g.97744480G>A		0							NM_001105580.2	NP_001099050.1	0	0	0	2.040625	A8MPY1	GBRR3_HUMAN		0	170	-			Q9UIV9	RNA	SNP	ENST00000472788.1	1	1	hg19			1																																																																																								0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.383	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0	0	1	2	2	2	2	0	0	0	0	31	31	31	30	1	1.930000	-20.000000	1	0.540000			0	41	41	0	118	118	0		1			0	0	31	0	0	1.000000	0	0	0	0	0	0	41	118
UROC1	131669	broad.mit.edu	37	3	126218205	126218205	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:126218205G>T	ENST00000290868.2	-	13	1344	c.1291C>A	c.(1291-1293)Cct>Act	p.P431T	UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	431					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACATAGGAAGGGTAGCGGAAC	0.627																																						ENST00000290868.2	1.000000	5.200000e-01	0.890000	6.300000e-01	0.750000	0.766332	0.750000	1.000000																										0				39						c.(1291-1293)Cct>Act		urocanate hydratase 1							114.0	75.0	88.0					3																	126218205		2203	4300	6503	SO:0001583	missense	131669	0	0					g.chr3:126218205G>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1291C>A	chr3.hg19:g.126218205G>T	ENSP00000290868:p.Pro431Thr	0					UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	p.P431T	NM_144639.2	NP_653240.1	0	0	0	2.040625	Q96N76	HUTU_HUMAN		13	1344	-			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	1	1	hg19	c.1291C>A	CCDS3038.1	0	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583912	0.65992	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.64438	-0.1;-0.1	4.89	4.89	0.63831	4.89	4.89	0.63831	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90105	0.4187	10	0.72032	D	0.01	0.5184	15.5628	0.76262	0.0:0.0:1.0:0.0	.	491;431	E9PE13;Q96N76	.;HUTU_HUMAN	T	431;491	ENSP00000290868:P431T;ENSP00000373073:P491T	ENSP00000290868:P431T	P	-	1	0	0	UROC1	127700895	127700895	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.216000	0.95154	2.262000	0.75019	0.585000	0.79938	CCT	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	1	0	1	2	2	2	2	0	0	0	0	27	27	27	27	1	1.930000	-20.000000	1	0.540000	NM_144639		0	27	27	0	105	105	1		1			0	0	27	0	0	1.000000	0	0	0	0	0	0	27	105
C4orf50	389197	broad.mit.edu	37	4	5969155	5969155	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:5969155G>A	ENST00000324058.5	-	5	532	c.443C>T	c.(442-444)aCg>aTg	p.T148M	C4orf50_ENST00000531445.1_Missense_Mutation_p.T622M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	148										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TAAAGCTGCCGTCATCTCAGA	0.532																																						ENST00000324058.5	0.170000	4.000000e-02	0.130000	6.000000e-02	0.090000	0.102103	0.090000	0.100000																										0				15						c.(442-444)aCg>aTg		chromosome 4 open reading frame 50							147.0	128.0	135.0					4																	5969155		2203	4300	6503	SO:0001583	missense	389197	1	121412	40				g.chr4:5969155G>A	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.443C>T	chr4.hg19:g.5969155G>A	ENSP00000317287:p.Thr148Met	0					C4orf50_ENST00000531445.1_Missense_Mutation_p.T622M	p.T148M			1	2	3	2.048279	Q6ZRC1	CD050_HUMAN		5	532	-				Missense_Mutation	SNP	ENST00000324058.5	1	1	hg19	c.443C>T		0	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296676	0.40594	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27720	1.65;1.65	2.99	2.99	0.34606	2.99	2.99	0.34606	.	0.665167	0.13125	N	0.411927	T	0.47340	0.1440	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.17289	-1.0374	10	0.72032	D	0.01	-2.3166	9.7214	0.40306	0.0:0.0:1.0:0.0	.	148	Q6ZRC1	CD050_HUMAN	M	622;148	ENSP00000437121:T622M;ENSP00000317287:T148M	ENSP00000317287:T148M	T	-	2	0	0	C4orf50	6020056	6020056	0.002000	0.14202	0.003000	0.11579	0.140000	0.21249	1.108000	0.31123	1.992000	0.58205	0.655000	0.94253	ACG	0.541239		TCGA-Q3-AA2A-01A-11D-A377-08	0.532	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	99	99	99	99	1	1.930000	-3.404082	1	0.540000	NM_207405		0	12	12	0	458	454	0		1			0	0	99	0	0	0.999091	0	0	0	0	0	0	12	458
BMP3	651	broad.mit.edu	37	4	81967241	81967241	+	Silent	SNP	G	G	A	rs370315521		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:81967241G>A	ENST00000282701.2	+	2	986	c.666G>A	c.(664-666)acG>acA	p.T222T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	222			T -> M (in dbSNP:rs34505126).		cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTAACATTACGTCCAAGGGAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20604	0.0		0.001	False		,,,				2504	0.0					ENST00000282701.2	0.130000	3.000000e-02	0.100000	5.000000e-02	0.070000	0.081389	0.070000	0.080000																										0				29						c.(664-666)acG>acA		bone morphogenetic protein 3		G		0,4406		0,0,2203	117.0	125.0	122.0		666	-2.1	0.2	4		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP3	NM_001201.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		222/473	81967241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	651	8	121412	45				g.chr4:81967241G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.666G>A	chr4.hg19:g.81967241G>A		0						p.T222T	NM_001201.2	NP_001192.2	1	2	3	2.048279	P12645	BMP3_HUMAN		2	986	+			Q4VAS5	Silent	SNP	ENST00000282701.2	0	1	hg19	c.666G>A	CCDS3588.1	0																																																																																								0.541239		TCGA-Q3-AA2A-01A-11D-A377-08	0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	0	0	1	2	2	2	2	0	0	0	0	110	110	110	109	1	1.930000	-2.758140	1	0.540000			0	13	13	0	623	617	0		1			0	0	110	0	0	0.999507	0	0	0	0	0	0	13	623
PCDHGA10	56106	broad.mit.edu	37	5	140794655	140794655	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:140794655A>G	ENST00000398610.2	+	1	1913	c.1913A>G	c.(1912-1914)gAc>gGc	p.D638G	PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCTGGACAGAGACGCG	0.701																																						ENST00000398610.2	0.560000	3.300000e-01	0.500000	3.800000e-01	0.440000	0.449300	0.440000	0.440000																										0				43						c.(1912-1914)gAc>gGc		protocadherin gamma subfamily A, 10							49.0	59.0	56.0					5																	140794655		2203	4295	6498	SO:0001583	missense	56106	0	0					g.chr5:140794655A>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1913A>G	chr5.hg19:g.140794655A>G	ENSP00000381611:p.Asp638Gly	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.D638G	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	0	0	0	2.036714	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1913	+			Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	1	1	hg19	c.1913A>G	CCDS47292.1	0	.	.	.	.	.	.	.	.	.	.	a	17.83	3.486542	0.63962	.	.	ENSG00000253846	ENST00000398610	T	0.65178	-0.14	5.39	5.39	0.77823	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75882	0.3910	M	0.64404	1.975	0.31302	N	0.688228	D;D	0.59767	0.973;0.986	P;D	0.65573	0.786;0.936	T	0.78705	-0.2100	9	0.72032	D	0.01	.	15.1502	0.72692	1.0:0.0:0.0:0.0	.	638;638	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	G	638	ENSP00000381611:D638G	ENSP00000381611:D638G	D	+	2	0	0	PCDHGA10	140774839	140774839	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.721000	0.61951	2.061000	0.61500	0.454000	0.30748	GAC	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.701	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	1	0	1	2	2	2	2	0	0	0	0	122	122	122	119	1	1.930000	-20.000000	1	0.540000	NM_018913		0	56	55	0	411	400	1		1			0	0	122	0	0	1.000000	0	0	0	0	0	0	56	411
OSMR	9180	broad.mit.edu	37	5	38881767	38881767	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:38881767T>C	ENST00000274276.3	+	4	721	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R	OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	107					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCCTTTGGAATGTGCCACACA	0.473																																						ENST00000274276.3	1.000000	7.400000e-01	0.970000	8.100000e-01	0.880000	0.891429	0.880000	1.000000																										0				46						c.(319-321)Tgt>Cgt		oncostatin M receptor							113.0	109.0	110.0					5																	38881767		2203	4300	6503	SO:0001583	missense	9180	0	0					g.chr5:38881767T>C	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.319T>C	chr5.hg19:g.38881767T>C	ENSP00000274276:p.Cys107Arg	0					OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	p.C107R	NM_003999.2	NP_003990.1	0	0	0	2.040364	Q99650	OSMR_HUMAN		4	721	+	all_lung(31;0.000365)		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	1	1	hg19	c.319T>C	CCDS3928.1	1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215522	0.58452	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.098018	0.85682	D	0.000000	T	0.77948	0.4207	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80571	-0.1323	10	0.87932	D	0	.	12.5437	0.56186	0.0:0.0:0.0:1.0	.	107;107	Q99650;Q99650-2	OSMR_HUMAN;.	R	107	ENSP00000422023:C107R;ENSP00000274276:C107R	ENSP00000274276:C107R	C	+	1	0	0	OSMR	38917524	38917524	1.000000	0.71417	0.998000	0.56505	0.409000	0.31022	4.331000	0.59273	2.216000	0.71823	0.533000	0.62120	TGT	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	1	0	1	2	2	2	2	0	0	0	0	109	109	109	108	1	1.930000	-20.000000	1	0.540000	NM_003999		0	105	104	0	331	329	1		1	1		0	0	109	0	0	1.000000	2.479079e-01	0	2	0	2	0	105	331
GALNT10	55568	broad.mit.edu	37	5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	253	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502																																						ENST00000297107.6	0.080000	0	0.060000	1.000000e-02	0.030000	0.040351	0.030000	0.040000																										0				32						c.(757-759)cGc>cAc		polypeptide N-acetylgalactosaminyltransferase 10							180.0	154.0	163.0					5																	153760011		2203	4300	6503	SO:0001583	missense	55568	1	121412	34				g.chr5:153760011G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.758G>A	chr5.hg19:g.153760011G>A	ENSP00000297107:p.Arg253His	0					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H	p.R253H	NM_198321.3	NP_938080.1	0	0	0	2.036714	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)	6	895	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	0	1	hg19	c.758G>A	CCDS4325.1	0	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	0	GALNT10	153740204	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	0	0	1	2	2	2	2	0	0	0	0	125	125	125	125	1	1.930000	-1.860100	0	0.540000	NM_198321		0	5	5	0	537	533	0		1	0		0	0	125	0	0	0.936583	2.833145e-03	0	0	0	7	0	5	537
ELOVL4	6785	broad.mit.edu	37	6	80635984	80635984	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:80635984G>T	ENST00000369816.4	-	2	515	c.215C>A	c.(214-216)cCt>cAt	p.P72H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	72					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CATCTGAAAAGGTTCTCGGTC	0.393																																						ENST00000369816.4	0.980000	6.600000e-01	0.910000	7.300000e-01	0.810000	0.825280	0.810000	0.830000																										0				22						c.(214-216)cCt>cAt		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						89.0	77.0	81.0					6																	80635984		2203	4300	6503	SO:0001583	missense	6785	1	121408	31				g.chr6:80635984G>T	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.215C>A	chr6.hg19:g.80635984G>T	ENSP00000358831:p.Pro72His	0						p.P72H	NM_022726.3	NP_073563.1	0	0	0	2.019237	Q9GZR5	ELOV4_HUMAN		2	515	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	1	1	hg19	c.215C>A	CCDS4992.1	0	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983967	0.93044	.	.	ENSG00000118402	ENST00000369816	T	0.26810	1.71	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78841	-0.2045	10	0.87932	D	0	-9.8818	19.1531	0.93496	0.0:0.0:1.0:0.0	.	72	Q9GZR5	ELOV4_HUMAN	H	72	ENSP00000358831:P72H	ENSP00000358831:P72H	P	-	2	0	0	ELOVL4	80692703	80692703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.753000	0.94483	0.655000	0.94253	CCT	0.537503		TCGA-Q3-AA2A-01A-11D-A377-08	0.393	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1	1	0	1	2	2	2	2	0	0	0	0	68	68	68	68	1	1.930000	-20.000000	1	0.540000			0	77	77	0	268	266	1		1			0	0	68	0	0	1.000000	0	0	0	0	0	0	77	268
ZFAND2A	90637	broad.mit.edu	37	7	1195155	1195155	+	Silent	SNP	T	T	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:1195155T>A	ENST00000316495.3	-	4	475	c.216A>T	c.(214-216)ccA>ccT	p.P72P	ZFAND2A_ENST00000401903.1_Silent_p.P72P	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	72					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCACCACGTCTGGTATCTGGC	0.483																																						ENST00000316495.3	1.000000	8.400000e-01	1.000000	9.100000e-01	0.990000	0.970748	0.990000	1.000000																										0				3						c.(214-216)ccA>ccT		zinc finger, AN1-type domain 2A							181.0	169.0	173.0					7																	1195155		2203	4300	6503	SO:0001819	synonymous_variant	90637	0	0					g.chr7:1195155T>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.216A>T	chr7.hg19:g.1195155T>A		1					ZFAND2A_ENST00000401903.1_Silent_p.P72P	p.P72P	NM_182491.2	NP_872297.2	1	2	3	2.488621	Q8N6M9	ZFN2A_HUMAN		4	475	-		Ovarian(82;0.11)	A4D220	Silent	SNP	ENST00000316495.3	1	1	hg19	c.216A>T	CCDS5323.1	1																																																																																								0.623383		TCGA-Q3-AA2A-01A-11D-A377-08	0.483	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	0	0	1	2	2	2	2	0	0	0	0	116	116	116	116	1	1.930000	-20.000000	1	0.540000	NM_182491		0	138	138	0	493	485	1		1	1		0	0	116	0	0	1.000000	1	0	31	0	56	0	138	493
KRIT1	889	broad.mit.edu	37	7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:91865794G>A	ENST00000340022.2	-	7	1436	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318																																						ENST00000340022.2	1.000000	9.500000e-01	1.000000	9.900000e-01	0.990000	0.997467	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R140*(1)	large_intestine(1)	22						c.(418-420)Cga>Tga		KRIT1, ankyrin repeat containing							99.0	104.0	102.0					7																	91865794		2203	4299	6502	SO:0001587	stop_gained	889	0	0					g.chr7:91865794G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.418C>T	chr7.hg19:g.91865794G>A	ENSP00000344668:p.Arg140*	0					KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*	p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	0	0	0	2.037488	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	7	1436	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	0	1	hg19	c.418C>T	CCDS5624.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.271354	0.98179	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	0.483	0.16820	5.17	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7004	15.7344	0.77831	0.0:0.0:0.2068:0.7932	.	.	.	.	X	140	.	ENSP00000344668:R140X	R	-	1	2	2	KRIT1	91703730	91703730	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.282000	0.33226	0.065000	0.16485	-0.238000	0.12139	CGA	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1	1	0	1	2	2	2	2	0	0	0	0	69	69	69	68	1	1.930000	-8.826397	1	0.540000			0	100	100	0	225	225	1		1	0		0	0	69	0	0	1.000000	2.280106e-01	0	0	0	3	0	100	225
MOSPD3	64598	broad.mit.edu	37	7	100211247	100211247	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100211247G>A	ENST00000393950.2	+	3	711	c.429G>A	c.(427-429)gaG>gaA	p.E143E	MOSPD3_ENST00000424091.2_Silent_p.E133E|MOSPD3_ENST00000379527.2_Silent_p.E143E|MOSPD3_ENST00000223054.4_Silent_p.E143E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	143	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCCCCTTGAGCTTCAGGGAC	0.637																																						ENST00000393950.2	0.350000	1.400000e-01	0.300000	1.800000e-01	0.230000	0.245452	0.230000	0.240000																										0				16						c.(427-429)gaG>gaA		motile sperm domain containing 3							57.0	54.0	55.0					7																	100211247		2203	4300	6503	SO:0001819	synonymous_variant	64598	0	0					g.chr7:100211247G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.429G>A	chr7.hg19:g.100211247G>A		0					MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000379527.2_Silent_p.E143E|MOSPD3_ENST00000424091.2_Silent_p.E133E	p.E143E	NM_023948.4	NP_076438.1	0	0	0	2.037488	O75425	MSPD3_HUMAN		3	711	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	1	1	hg19	c.429G>A	CCDS5701.1	0																																																																																								0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.637	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	1	0	1	2	2	2	2	0	0	0	0	76	76	76	75	1	1.930000	-19.999850	1	0.540000	NM_023948		0	20	20	0	294	292	0		1	1		0	0	76	0	0	0.999996	9.812130e-01	0	6	0	91	0	20	294
CSMD1	64478	broad.mit.edu	37	8	2820823	2820823	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:2820823G>A	ENST00000520002.1	-	61	9933	c.9378C>T	c.(9376-9378)gaC>gaT	p.D3126D	CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602557.1_Silent_p.D3126D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3126	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGTAACCGTCCATGCAGC	0.562																																						ENST00000520002.1	0.070000	0	0.050000	1.000000e-02	0.030000	0.036638	0.030000	0.040000																										0				25						c.(9376-9378)gaC>gaT		CUB and Sushi multiple domains 1							107.0	116.0	113.0					8																	2820823		1971	4163	6134	SO:0001819	synonymous_variant	64478	2	120858	37				g.chr8:2820823G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9378C>T	chr8.hg19:g.2820823G>A		0					CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602557.1_Silent_p.D3126D|CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000602723.1_Silent_p.D2949D	p.D3126D			0	0	0	2.039547	Q96PZ7	CSMD1_HUMAN		61	9933	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	0	1	hg19	c.9378C>T		0	.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004364	0.02112	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.69	-2.77	0.05877	5.69	-2.77	0.05877	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	0.4751	0.00538	0.3679:0.2388:0.1773:0.216	.	.	.	.	W	2543	.	.	R	-	1	2	2	CSMD1	2808230	2808230	0.000000	0.05858	0.047000	0.18901	0.110000	0.19582	-1.200000	0.03029	-0.162000	0.10964	-0.136000	0.14681	CGG	0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	0	1	2	2	2	2	0	0	0	0	121	121	121	121	1	1.930000	-2.498943	0	0.540000	NM_033225		0	5	5	0	589	579	0		1			0	0	121	0	0	0.934951	0	0	0	0	0	0	5	589
SLCO5A1	81796	broad.mit.edu	37	8	70744099	70744099	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:70744099C>T	ENST00000260126.4	-	2	1516	c.810G>A	c.(808-810)gcG>gcA	p.A270A	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.A270A|SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGAATCTGCGCGCAAATGA	0.502																																						ENST00000260126.4	0.130000	2.000000e-02	0.100000	4.000000e-02	0.060000	0.072825	0.060000	0.060000																										1	Substitution - coding silent(1)	p.A270A(1)	lung(1)	53						c.(808-810)gcG>gcA		solute carrier organic anion transporter family, member 5A1							104.0	105.0	105.0					8																	70744099		2203	4300	6503	SO:0001819	synonymous_variant	81796	0	0					g.chr8:70744099C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.810G>A	chr8.hg19:g.70744099C>T		0					RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.A270A|SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA	p.A270A	NM_030958.2	NP_112220.2	0	0	0	2.035975	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)	2	1516	-	Breast(64;0.0654)		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	0	1	hg19	c.810G>A	CCDS6205.1	0																																																																																								0.540000		TCGA-Q3-AA2A-01A-11D-A377-08	0.502	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	1	2	2	2	2	0	0	0	0	88	88	88	87	1	1.930000	-2.509814	1	0.540000	NM_030958		0	7	7	0	397	394	0		1			0	0	88	0	0	0.979940	0	0	0	0	0	0	7	397
C9orf24	84688	broad.mit.edu	37	9	34381380	34381380	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:34381380C>T	ENST00000297623.2	-	4	657	c.459G>A	c.(457-459)cgG>cgA	p.R153R	C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379126.3_Silent_p.R18R|C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379127.1_Silent_p.R18R	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	153					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGGCATTGAGCCGCTCCGGCC	0.612																																						ENST00000297623.2	1.000000	0	0.060000	1.000000e-02	0.030000	0.092904	0.030000	0.040000																										0				5						c.(457-459)cgG>cgA		chromosome 9 open reading frame 24							148.0	131.0	137.0					9																	34381380		2203	4300	6503	SO:0001819	synonymous_variant	84688	0	0					g.chr9:34381380C>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.459G>A	chr9.hg19:g.34381380C>T		0					C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R|C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000481295.1_5'Flank	p.R153R	NM_032596.3	NP_115985.2	1	2	3	2.113925	Q8NCR6	SMRP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	4	657	-			Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	0	1	hg19	c.459G>A	CCDS6554.1	0																																																																																								0.548533		TCGA-Q3-AA2A-01A-11D-A377-08	0.612	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	0	0	1	2	16	2	2	1	1	1	1	123	123	123	122	1	1.930000	-1.964080	0	0.540000	NM_147169		0	5	5	0	560	544	0		0			1	0	123	0	0	0.010500	0	0	0	0	0	0	5	560
