#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ASTN1	460	broad.mit.edu	37	1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:177030386G>C	ENST00000367654.3	-	2	510	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	100					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATATCCTCTGTGTTCCCTGA	0.488																																						ENST00000367654.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(298-300)aCa>aGa		astrotactin 1							135.0	127.0	130.0					1																	177030386		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030386G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.299C>G	1.37:g.177030386G>C	ENSP00000356626:p.Thr100Arg		Somatic				ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR	p.T100R	NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			2	510	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.299C>G		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602112	0.66445	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15139	2.45;2.87;2.87;2.46	6.06	6.06	0.98353	.	0.058147	0.64402	D	0.000001	T	0.21801	0.0525	N	0.22421	0.69	0.80722	D	1	P;P;P	0.49090	0.919;0.919;0.919	P;P;P	0.48704	0.587;0.587;0.587	T	0.00402	-1.1762	10	0.72032	D	0.01	-8.8149	20.2159	0.98296	0.0:0.0:1.0:0.0	.	100;100;100	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	100	ENSP00000356629:T100R;ENSP00000354536:T100R;ENSP00000356626:T100R;ENSP00000395041:T100R	ENSP00000354536:T100R	T	-	2	0	ASTN1	175297009	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	9.689000	0.98673	2.882000	0.98803	0.655000	0.94253	ACA		0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	148	3	148	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:152311552A>G	ENST00000243326.5	+	21	2971	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCTCTTCACTATTGGCAACTC	0.383																																						ENST00000243326.5																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2488-2490)Att>Gtt		RAP1 interacting factor homolog (yeast)							149.0	149.0	149.0					2																	152311552		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311552A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2488A>G	2.37:g.152311552A>G	ENSP00000243326:p.Ile830Val		Somatic				RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V	p.I830V			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	2971	+								A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2488A>G	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.317|6.317	0.426629|0.426629	0.11987|0.11987	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36;-0.36|.	5.55|5.55	-2.28|-2.28	0.06826|0.06826	.|.	0.575385|.	0.18338|.	N|.	0.144297|.	T|T	0.29945|0.29945	0.0749|0.0749	N|N	0.12569|0.12569	0.235|0.235	0.33049|0.33049	D|D	0.53246|0.53246	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.10450|.	0.002;0.005|.	T|T	0.39742|0.39742	-0.9599|-0.9599	10|5	0.18276|.	T|.	0.48|.	-4.6537|-4.6537	12.6802|12.6802	0.56918|0.56918	0.5628:0.0:0.4372:0.0|0.5628:0.0:0.4372:0.0	.|.	830;830|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	V|C	830|821	ENSP00000390181:I830V;ENSP00000414615:I830V;ENSP00000415691:I830V;ENSP00000243326:I830V;ENSP00000416123:I830V|.	ENSP00000243326:I830V|.	I|Y	+|+	1|2	0|0	RIF1|RIF1	152019798|152019798	0.000000|0.000000	0.05858|0.05858	0.214000|0.214000	0.23707|0.23707	0.986000|0.986000	0.74619|0.74619	-0.387000|-0.387000	0.07361|0.07361	-0.387000|-0.387000	0.07809|0.07809	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.383	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			3	137	3	137	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:179408725C>T	ENST00000591111.1	-	296	91447	c.91223G>A	c.(91222-91224)aGc>aAc	p.S30408N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S32049N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30408	Ig-like 137.				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)			GCCCTGCTTGCTCCACGTTAT	0.493																																						ENST00000589042.1																			0				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						c.(96145-96147)aGc>aAc		titin							162.0	154.0	156.0					2																	179408725		1984	4166	6150	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408725C>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.91223G>A	2.37:g.179408725C>T	ENSP00000465570:p.Ser30408Asn		Somatic				TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.S32049N	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		346	96370	-			30408			Fibronectin type-III 132.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.96146G>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517128	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.72	1.84	0.25277	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38639	0.1048	M	0.64260	1.97	0.34144	D	0.666753	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.42732	-0.9434	9	0.87932	D	0	.	8.872	0.35323	0.0:0.5268:0.346:0.1271	.	22984;23109;23176;30408	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29481;22984;23176;23109;22981	ENSP00000343764:S29481N;ENSP00000434586:S22984N;ENSP00000340554:S23176N;ENSP00000352154:S23109N	ENSP00000340554:S23176N	S	-	2	0	TTN	179116971	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.392000	0.34486	0.056000	0.16144	-0.304000	0.09214	AGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	132	27	132	---	---	---	---
ORMDL1	94101	broad.mit.edu	37	2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:190640394G>T	ENST00000325795.3	-	2	1009	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000496543.1_5'Flank|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	75					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCCTGGTCAGGAGTTTCGAAA	0.378																																						ENST00000325795.3																			0				breast(1)|urinary_tract(1)	2						c.(223-225)Cct>Act		ORM1-like 1 (S. cerevisiae)							117.0	115.0	116.0					2																	190640394		2203	4300	6503	SO:0001583	missense	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190640394G>T		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"""ORM1 (S. cerevisiae)-like 1"", ""ORM1-like 1 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.223C>A	2.37:g.190640394G>T	ENSP00000326869:p.Pro75Thr		Somatic				ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T	p.P75T			WXS	Illumina GAIIx	Phase_I	Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		2	1009	-			75					B2R8W3|D3DPH9	Missense_Mutation	SNP	ENST00000325795.3	37	c.223C>A	CCDS2301.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636558	0.47049	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349;ENST00000409519;ENST00000442547;ENST00000458355	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65076	-0.6256	9	0.13470	T	0.59	-14.6347	18.5564	0.91086	0.0:0.0:1.0:0.0	.	75	Q9P0S3	ORML1_HUMAN	T	75	.	ENSP00000326869:P75T	P	-	1	0	ORMDL1	190348639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.556000	0.98127	2.605000	0.88082	0.655000	0.94253	CCT		0.378	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1	NM_016467		21	51	21	51	---	---	---	---
CAMK1	8536	broad.mit.edu	37	3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:9804662A>T	ENST00000256460.3	-	5	542	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CACCTGGAAGATGAGGCGGCT	0.597																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(364-366)aTc>aAc		calcium/calmodulin-dependent protein kinase I							70.0	62.0	64.0					3																	9804662		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804662A>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.365T>A	3.37:g.9804662A>T	ENSP00000256460:p.Ile122Asn		Somatic				OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	p.I122N	NM_003656.4	NP_003647.1	WXS	Illumina GAIIx	Phase_I	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	5	542	-	Medulloblastoma(99;0.227)		122			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.365T>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666240	0.88251	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.67698	-0.28;-0.28	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88171	0.2864	10	0.87932	D	0	-12.9082	14.8392	0.70212	1.0:0.0:0.0:0.0	.	122	Q14012	KCC1A_HUMAN	N	122;78	ENSP00000256460:I122N;ENSP00000404587:I78N	ENSP00000256460:I122N	I	-	2	0	CAMK1	9779662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	1.910000	0.55303	0.379000	0.24179	ATC		0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		16	35	16	35	---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:111793168T>A	ENST00000452346.2	+	14	1695	c.1692T>A	c.(1690-1692)ttT>ttA	p.F564L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	564	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAACTTTTAAGTGTGGCA	0.368																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1690-1692)ttT>ttA		transmembrane protease, serine 7							168.0	155.0	159.0					3																	111793168		1900	4111	6011	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111793168T>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1692T>A	3.37:g.111793168T>A	ENSP00000398236:p.Phe564Leu		Somatic				TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L	p.F564L			WXS	Illumina GAIIx	Phase_I	Q7RTY8	TMPS7_HUMAN			14	1695	+			564			LDL-receptor class A 3.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1692T>A		.	.	.	.	.	.	.	.	.	.	T	17.79	3.476453	0.63737	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.98889	-5.21;-5.21	6.17	2.6	0.31112	.	0.057135	0.64402	D	0.000001	D	0.97207	0.9087	M	0.76002	2.32	0.39556	D	0.969052	B;B	0.26975	0.165;0.042	B;B	0.31442	0.13;0.033	D	0.95075	0.8208	10	0.49607	T	0.09	.	6.9101	0.24331	0.0:0.3212:0.0:0.6788	.	564;438	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	L	564;552;538;438	ENSP00000398236:F564L;ENSP00000411645:F438L	ENSP00000411645:F438L	F	+	3	2	TMPRSS7	113275858	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.281000	0.18810	0.573000	0.29400	0.533000	0.62120	TTT		0.368	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		8	92	8	92	---	---	---	---
ITGB5	3693	broad.mit.edu	37	3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:124527930C>G	ENST00000296181.4	-	9	1498	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	401					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCATCTTGGCAGGTAGCAGT	0.473																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(1201-1203)tGc>tCc		integrin, beta 5							130.0	129.0	130.0					3																	124527930		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124527930C>G	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1202G>C	3.37:g.124527930C>G	ENSP00000296181:p.Cys401Ser		Somatic					p.C401S	NM_002213.3	NP_002204.2	WXS	Illumina GAIIx	Phase_I	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	9	1498	-			401					B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1202G>C	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982989	0.93044	.	.	ENSG00000082781	ENST00000296181	D	0.95272	-3.66	5.63	5.63	0.86233	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98139	1.0435	10	0.87932	D	0	.	19.2722	0.94015	0.0:1.0:0.0:0.0	.	401	P18084	ITB5_HUMAN	S	401	ENSP00000296181:C401S	ENSP00000296181:C401S	C	-	2	0	ITGB5	126010620	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.999000	0.76283	2.656000	0.90262	0.655000	0.94253	TGC		0.473	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		22	129	22	129	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:126207086C>T	ENST00000290868.2	-	18	1798	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	582					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)		GGTGGCTCCGCGACAGGCATC	0.612																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1744-1746)cGc>cAc		urocanate hydratase 1							133.0	131.0	132.0					3																	126207086		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126207086C>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.1745G>A	3.37:g.126207086C>T	ENSP00000290868:p.Arg582His		Somatic				UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	p.R582H	NM_144639.2	NP_653240.1	WXS	Illumina GAIIx	Phase_I	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	18	1798	-			582					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1745G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293710	0.80914	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46451	0.87;0.87	5.46	5.46	0.80206	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83235	-0.0061	10	0.87932	D	0	-13.3842	16.7908	0.85589	0.0:1.0:0.0:0.0	.	642;582	E9PE13;Q96N76	.;HUTU_HUMAN	H	582;642	ENSP00000290868:R582H;ENSP00000373073:R642H	ENSP00000290868:R582H	R	-	2	0	UROC1	127689776	1.000000	0.71417	0.741000	0.31004	0.419000	0.31324	6.909000	0.75735	2.555000	0.86185	0.591000	0.81541	CGC		0.612	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		6	175	6	175	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:140406842G>A	ENST00000286349.3	+	3	1509	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	440	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V440L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGGCCAGGTGGCATTCCT	0.517																																						ENST00000286349.3																			1	Substitution - Missense(1)	p.V440L(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1318-1320)Gtg>Atg		tripartite motif containing 42							69.0	59.0	63.0					3																	140406842		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406842G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1318G>A	3.37:g.140406842G>A	ENSP00000286349:p.Val440Met		Somatic					p.V440M	NM_152616.4	NP_689829.3	WXS	Illumina GAIIx	Phase_I	Q8IWZ5	TRI42_HUMAN			3	1509	+			440			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1318G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768462	0.69878	.	.	ENSG00000155890	ENST00000286349	T	0.41065	1.01	5.48	5.48	0.80851	COS domain (1);	0.103846	0.42420	N	0.000714	T	0.52677	0.1749	L	0.29908	0.895	0.36320	D	0.858201	D	0.71674	0.998	D	0.81914	0.995	T	0.60052	-0.7338	10	0.59425	D	0.04	-25.7256	15.2061	0.73180	0.0:0.0:1.0:0.0	.	440	Q8IWZ5	TRI42_HUMAN	M	440	ENSP00000286349:V440M	ENSP00000286349:V440M	V	+	1	0	TRIM42	141889532	0.958000	0.32768	0.993000	0.49108	0.981000	0.71138	1.392000	0.34486	2.749000	0.94314	0.655000	0.94253	GTG		0.517	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	57	6	57	---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183273149	183273149	+	Splice_Site	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:183273149C>G	ENST00000341319.3	-	1	328	c.293G>C	c.(292-294)aGg>aCg	p.R98T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	98	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCATGCTGACCTGAAATAGTT	0.493																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(292-294)aGg>aCg		kelch-like family member 6							79.0	70.0	73.0					3																	183273149		2203	4300	6503	SO:0001630	splice_region_variant	89857							g.chr3:183273149C>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.293+1G>C	3.37:g.183273149C>G			Somatic					p.R98T	NM_130446.2	NP_569713.2	WXS	Illumina GAIIx	Phase_I	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	328	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		98			BTB.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Splice_Site	SNP	ENST00000341319.3	37	c.293G>C	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892718	0.91889	.	.	ENSG00000172578	ENST00000341319	T	0.69685	-0.42	5.52	5.52	0.82312	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84572	0.0656	9	.	.	.	.	19.505	0.95111	0.0:1.0:0.0:0.0	.	98	Q8WZ60	KLHL6_HUMAN	T	98	ENSP00000341342:R98T	.	R	-	2	0	KLHL6	184755843	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.276000	0.72601	2.604000	0.88044	0.650000	0.86243	AGG		0.493	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	Missense_Mutation	7	94	7	94	---	---	---	---
PPP3CA	5530	broad.mit.edu	37	4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:102001731T>A	ENST00000394854.3	-	8	1596	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	305					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGAAAAAATTGTAATTAGA	0.313																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(913-915)Att>Ttt		protein phosphatase 3, catalytic subunit, alpha isozyme							75.0	75.0	75.0					4																	102001731		2202	4298	6500	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102001731T>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.913A>T	4.37:g.102001731T>A	ENSP00000378323:p.Ile305Phe		Somatic				PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron	p.I305F	NM_000944.4	NP_000935.1	WXS	Illumina GAIIx	Phase_I	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	8	1596	-			305					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.913A>T	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632620	0.87660	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.39	5.39	0.77823	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.240511	0.38663	N	0.001615	T	0.43590	0.1254	M	0.93978	3.48	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.997;0.998;0.998;0.997	P;D;D;P;P	0.70016	0.903;0.967;0.955;0.888;0.879	T	0.58719	-0.7587	10	0.87932	D	0	-9.8314	15.4421	0.75190	0.0:0.0:0.0:1.0	.	305;305;305;207;238	Q08209;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	F	305;305;305;207;238	ENSP00000378323:I305F;ENSP00000320580:I305F;ENSP00000378322:I305F;ENSP00000422990:I207F;ENSP00000429350:I238F	ENSP00000320580:I305F	I	-	1	0	PPP3CA	102220754	1.000000	0.71417	0.995000	0.50966	0.852000	0.48524	7.751000	0.85126	2.054000	0.61138	0.533000	0.62120	ATT		0.313	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		23	35	23	35	---	---	---	---
ESM1	11082	broad.mit.edu	37	5	54281325	54281325	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:54281325C>G	ENST00000381405.4	-	1	166	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.L7L	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	7					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGAGCGTGGTCAGCAGCAAGA	0.597																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(19-21)ctG>ctC		endothelial cell-specific molecule 1							37.0	36.0	36.0					5																	54281325		2203	4300	6503	SO:0001819	synonymous_variant	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281325C>G	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.21G>C	5.37:g.54281325C>G			Somatic				ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	p.L7L	NM_007036.4	NP_008967.1	WXS	Illumina GAIIx	Phase_I	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	166	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	7					B2R4G3|Q15330|Q3V4E3|Q96ES3	Silent	SNP	ENST00000381405.4	37	c.21G>C	CCDS3963.1																																																																																				0.597	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		3	65	3	65	---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150029504G>A	ENST00000394243.1	+	3	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	800	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCCTGCGCCCAGAGCCC	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2398-2400)cGc>cAc		synaptopodin							62.0	79.0	73.0					5																	150029504		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029504G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2399G>A	5.37:g.150029504G>A	ENSP00000377789:p.Arg800His		Somatic				SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	p.R800H	NM_001166208.1	NP_001159680.1	WXS	Illumina GAIIx	Phase_I	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2773	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	800			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2399G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083373	0.55861	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24350	1.86;1.86;1.86	5.06	4.19	0.49359	.	0.000000	0.50627	D	0.000106	T	0.34164	0.0888	L	0.36672	1.1	0.34198	D	0.672871	B;D	0.89917	0.067;1.0	B;D	0.67725	0.011;0.953	T	0.47058	-0.9146	10	0.51188	T	0.08	-17.4588	6.874	0.24137	0.3087:0.0:0.6913:0.0	.	556;800	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	800;800;556;556	ENSP00000377789:R800H;ENSP00000428378:R800H;ENSP00000429268:R556H	ENSP00000302139:R556H	R	+	2	0	SYNPO	150009697	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.992000	0.40737	1.128000	0.42052	0.462000	0.41574	CGC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		32	160	32	160	---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:74111706G>C	ENST00000370336.4	+	4	719	c.561G>C	c.(559-561)aaG>aaC	p.K187N	DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	187					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAAAACAAAGTGGGCAGGTC	0.358																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(559-561)aaG>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							131.0	132.0	131.0					6																	74111706		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74111706G>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.561G>C	6.37:g.74111706G>C	ENSP00000359361:p.Lys187Asn		Somatic				DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	p.K187N	NM_018665.2	NP_061135.2	WXS	Illumina GAIIx	Phase_I	Q9NXZ2	DDX43_HUMAN			4	719	+			187					B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.561G>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265057	0.59431	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.63744	2.25;-0.06	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.45352	1.415	0.43164	D	0.994957	P	0.45986	0.87	B	0.43194	0.411	T	0.37502	-0.9703	10	0.38643	T	0.18	.	10.1106	0.42561	0.0937:0.0:0.9063:0.0	.	187	Q9NXZ2	DDX43_HUMAN	N	187	ENSP00000359361:K187N;ENSP00000441636:K187N	ENSP00000359361:K187N	K	+	3	2	DDX43	74168427	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.705000	0.37867	1.357000	0.45904	-0.136000	0.14681	AAG		0.358	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		52	80	52	80	---	---	---	---
MDFIC	29969	broad.mit.edu	37	7	114655934	114655934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:114655934C>A	ENST00000393486.1	+	5	1276	c.686C>A	c.(685-687)tCa>tAa	p.S229*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.S338*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TGTTGTGAATCATCAGACTGC	0.408																																						ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(1012-1014)tCa>tAa		MyoD family inhibitor domain containing							284.0	252.0	263.0					7																	114655934		2203	4300	6503	SO:0001587	stop_gained	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655934C>A	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.686C>A	7.37:g.114655934C>A	ENSP00000377126:p.Ser229*		Somatic				MDFIC_ENST00000393486.1_Nonsense_Mutation_p.S229*	p.S338*			WXS	Illumina GAIIx	Phase_I	Q9P1T7	MDFIC_HUMAN			5	1276	+			229						Nonsense_Mutation	SNP	ENST00000393486.1	37	c.1013C>A	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	38	6.779567	0.97833	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1559	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	338;229	.	ENSP00000257724:S338X	S	+	2	0	MDFIC	114443170	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.487000	0.81328	2.723000	0.93209	0.655000	0.94253	TCA		0.408	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		4	170	4	170	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:2806884C>A	ENST00000520002.1	-	69	10897	c.10342G>T	c.(10342-10344)Gga>Tga	p.G3448*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3448						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)		AAAGTAAATCCTCCTCTTTCA	0.318																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10342-10344)Gga>Tga		CUB and Sushi multiple domains 1							93.0	84.0	86.0					8																	2806884		1806	4070	5876	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:2806884C>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.10342G>T	8.37:g.2806884C>A	ENSP00000430733:p.Gly3448*		Somatic				CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*	p.G3448*			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		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)	69	10897	-		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)	3448					Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.10342G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	17.101370|17.101370	0.99879|0.99879	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.222920|.	0.38326|.	N|.	0.001725|.	.|T	.|0.70675	.|0.3251	.|.	.|.	.|.	0.46981|0.46981	D|D	0.999278|0.999278	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68187	.|-0.5475	.|4	0.62326|.	D|.	0.03|.	.|.	14.1878|14.1878	0.65617|0.65617	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.	.|.	.|.	.|.	X|M	3271;3448;3309;3447;3270|2849	.|.	ENSP00000320445:G3309X|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2794291|2794291	0.019000|0.019000	0.18553|0.18553	0.963000|0.963000	0.40424|0.40424	0.054000|0.054000	0.15201|0.15201	1.637000|1.637000	0.37155|0.37155	2.783000|2.783000	0.95769|0.95769	0.637000|0.637000	0.83480|0.83480	GGA|AGG		0.318	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		14	32	14	32	---	---	---	---
CENPP	401541	broad.mit.edu	37	9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:95375385C>T	ENST00000375587.3	+	8	1336	c.821C>T	c.(820-822)gCt>gTt	p.A274V	IPPK_ENST00000486841.1_5'Flank|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V|CENPP_ENST00000375579.3_Missense_Mutation_p.A101V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	274					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ATCGAAGCTGCTCTGGAAAGC	0.473																																						ENST00000375587.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(820-822)gCt>gTt		centromere protein P							121.0	120.0	121.0					9																	95375385		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95375385C>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.821C>T	9.37:g.95375385C>T	ENSP00000364737:p.Ala274Val		Somatic				CENPP_ENST00000375579.3_Missense_Mutation_p.A101V|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V	p.A274V	NM_001012267.1	NP_001012267.1	WXS	Illumina GAIIx	Phase_I	Q6IPU0	CENPP_HUMAN			8	1336	+			274					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.821C>T	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887578	0.52014	.	.	ENSG00000188312	ENST00000375587;ENST00000402724;ENST00000375579;ENST00000375576	.	.	.	5.13	5.13	0.70059	.	0.474204	0.20246	N	0.096181	T	0.61751	0.2372	L	0.43923	1.385	0.34390	D	0.694036	P;P	0.41420	0.749;0.749	P;P	0.48368	0.575;0.575	T	0.73329	-0.4017	9	0.72032	D	0.01	-3.2087	17.151	0.86778	0.0:1.0:0.0:0.0	.	101;274	B3KRA5;Q6IPU0	.;CENPP_HUMAN	V	274;233;101;88	.	ENSP00000364726:A88V	A	+	2	0	CENPP	94415206	0.172000	0.23043	0.673000	0.29887	0.141000	0.21300	5.253000	0.65452	2.555000	0.86185	0.462000	0.41574	GCT		0.473	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		46	102	46	102	---	---	---	---
XPA	7507	broad.mit.edu	37	9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:100447235T>A	ENST00000375128.4	-	5	707	c.643A>T	c.(643-645)Aaa>Taa	p.K215*		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	215					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCTTCTGTTTCATTTTTTCT	0.353			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group A"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(643-645)Aaa>Taa	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A							237.0	220.0	226.0					9																	100447235		2203	4299	6502	SO:0001587	stop_gained	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100447235T>A	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.643A>T	9.37:g.100447235T>A	ENSP00000364270:p.Lys215*		Somatic					p.K215*	NM_000380.3	NP_000371.1	WXS	Illumina GAIIx	Phase_I	P23025	XPA_HUMAN			5	707	-		Acute lymphoblastic leukemia(62;0.158)	215					Q5T1U9|Q6LCW7|Q6LD02	Nonsense_Mutation	SNP	ENST00000375128.4	37	c.643A>T	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994788	0.74703	.	.	ENSG00000136936	ENST00000375128	.	.	.	4.98	4.98	0.66077	.	0.144593	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3523	0.66711	0.0:0.0:0.0:1.0	.	.	.	.	X	215	.	ENSP00000364270:K215X	K	-	1	0	XPA	99487056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.994000	0.76251	2.180000	0.69256	0.383000	0.25322	AAA		0.353	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		5	41	5	41	---	---	---	---
IPMK	253430	broad.mit.edu	37	10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:59975932T>C	ENST00000373935.3	-	4	842	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	174					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAGAACCCAATCTCTTCCATT	0.388																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(520-522)Att>Gtt		inositol polyphosphate multikinase							98.0	90.0	93.0					10																	59975932		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59975932T>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.520A>G	10.37:g.59975932T>C	ENSP00000363046:p.Ile174Val		Somatic					p.I174V	NM_152230.4	NP_689416.1	WXS	Illumina GAIIx	Phase_I	Q8NFU5	IPMK_HUMAN			4	842	-			174						Missense_Mutation	SNP	ENST00000373935.3	37	c.520A>G	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690782	0.68271	.	.	ENSG00000151151	ENST00000373935	T	0.18016	2.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.49126	1.545	0.49582	D	0.999804	P	0.37207	0.587	P	0.45406	0.479	T	0.01635	-1.1307	9	.	.	.	-8.2763	13.9987	0.64419	0.0:0.0:0.0:1.0	.	174	Q8NFU5	IPMK_HUMAN	V	174	ENSP00000363046:I174V	.	I	-	1	0	IPMK	59645938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.931000	0.87625	2.182000	0.69389	0.533000	0.62120	ATT		0.388	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		39	85	39	85	---	---	---	---
TLX1NB	100038246	broad.mit.edu	37	10	102849597	102849597	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:102849597G>A	ENST00000445873.1	-	3	1342	c.66C>T	c.(64-66)ctC>ctT	p.L22L	TLX1NB_ENST00000425505.1_5'Flank	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	22																	CTTGGGAAAGGAGAGAGTGCT	0.662																																						ENST00000445873.1																			0											c.(64-66)ctC>ctT		TLX1 neighbor							15.0	18.0	17.0					10																	102849597		1919	4112	6031	SO:0001819	synonymous_variant	100038246							g.chr10:102849597G>A	BC019674	CCDS60615.1	10q24	2014-04-01			ENSG00000236311	ENSG00000236311			37183	protein-coding gene	gene with protein product		612734				17303350	Standard	NM_001085398		Approved	TD1, TDI, APT-B7	uc001ksv.3	P0CAT3	OTTHUMG00000018925	ENST00000445873.1:c.66C>T	10.37:g.102849597G>A			Somatic					p.L22L	NM_001085398.1	NP_001078867.1	WXS	Illumina GAIIx	Phase_I	P0CAT3	TLXNB_HUMAN			3	1342	-			22						Silent	SNP	ENST00000445873.1	37	c.66C>T																																																																																					0.662	TLX1NB-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000049925.2	NM_001085398		8	11	8	11	---	---	---	---
MMP3	4314	broad.mit.edu	37	11	102710883	102710883	+	Silent	SNP	A	A	G	rs150024311		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:102710883A>G	ENST00000299855.5	-	6	1147	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	297					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TGCTGACAGCATCAAAGGACA	0.493																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(889-891)gaT>gaC		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)	A		0,4406		0,0,2203	75.0	80.0	78.0		891	-4.0	0.2	11	dbSNP_134	78	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MMP3	NM_002422.3		0,2,6500	GG,GA,AA		0.0233,0.0,0.0154		297/478	102710883	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102710883A>G	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.891T>C	11.37:g.102710883A>G			Somatic					p.D297D	NM_002422.3	NP_002413.1	WXS	Illumina GAIIx	Phase_I	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	6	1147	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	297			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	c.891T>C	CCDS8323.1																																																																																				0.493	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		4	134	4	134	---	---	---	---
SIAE	54414	broad.mit.edu	37	11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124539286T>G	ENST00000263593.3	-	2	371	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P|SIAE_ENST00000525730.1_5'Flank			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	67					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TTCATGATGGTTTCCTGACCT	0.522											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(199-201)Acc>Ccc		sialic acid acetylesterase							231.0	183.0	199.0					11																	124539286		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124539286T>G	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.199A>C	11.37:g.124539286T>G	ENSP00000263593:p.Thr67Pro		Somatic	OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1535	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P	p.T67P			WXS	Illumina GAIIx	Phase_I	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	2	371	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	67					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.199A>C	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725668	0.30593	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.85013	-1.93;-1.91	5.4	-8.07	0.01098	.	0.726558	0.13161	N	0.409048	T	0.72187	0.3429	L	0.46741	1.465	0.22571	N	0.998978	B;B	0.19583	0.007;0.037	B;B	0.14578	0.01;0.011	T	0.54642	-0.8263	10	0.48119	T	0.1	-3.4248	4.7723	0.13162	0.0937:0.4298:0.1912:0.2853	.	32;67	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	P	67;32	ENSP00000263593:T67P;ENSP00000437877:T32P	ENSP00000263593:T67P	T	-	1	0	SIAE	124044496	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-0.625000	0.05534	-1.950000	0.01030	0.533000	0.62120	ACC		0.522	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		28	64	28	64	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:84454931G>A	ENST00000377084.2	-	1	1597	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	238	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGACCACTCGGCCGATCAGG	0.522																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(712-714)Cga>Tga		SLIT and NTRK-like family, member 1							57.0	59.0	58.0					13																	84454931		2203	4300	6503	SO:0001587	stop_gained	114798					integral to membrane		g.chr13:84454931G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.712C>T	13.37:g.84454931G>A	ENSP00000366288:p.Arg238*		Somatic					p.R238*	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1597	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	238			LRRCT 1.		Q5U5I6|Q96SF9	Nonsense_Mutation	SNP	ENST00000377084.2	37	c.712C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	42	9.797387	0.99267	.	.	ENSG00000178235	ENST00000377084	.	.	.	4.71	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-2.7743	11.6944	0.51536	0.0:0.0:0.4091:0.5909	.	.	.	.	X	238	.	ENSP00000366288:R238X	R	-	1	2	SLITRK1	83352932	0.546000	0.26457	0.995000	0.50966	0.912000	0.54170	0.257000	0.18369	0.571000	0.29365	-0.324000	0.08512	CGA		0.522	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		11	68	11	68	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:23517622T>C	ENST00000267383.5	-	12	2119	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_ENST00000487137.2_Missense_Mutation_p.E638G|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000397359.3_Missense_Mutation_p.E676G|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	676					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCGGACGTCCTCCTCCTCCAG	0.667																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(2026-2028)gAg>gGg		cadherin 24, type 2							77.0	80.0	79.0					14																	23517622		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517622T>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2027A>G	14.37:g.23517622T>C	ENSP00000267383:p.Glu676Gly		Somatic				CDH24_ENST00000267383.5_Missense_Mutation_p.E676G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G	p.E676G	NM_022478.3	NP_071923.2	WXS	Illumina GAIIx	Phase_I	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2286	-	all_cancers(95;3.3e-05)		676					D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.2027A>G	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582449	0.65992	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	3.84	3.84	0.44239	Cadherin, cytoplasmic domain (1);	0.135826	0.48286	D	0.000191	T	0.80082	0.4558	M	0.75615	2.305	0.40257	D	0.978131	D;B	0.56035	0.974;0.439	P;B	0.48189	0.57;0.172	D	0.83766	0.0217	10	0.87932	D	0	.	11.7723	0.51967	0.0:0.0:0.0:1.0	.	638;676	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	G	676;638;171;638;676	ENSP00000380517:E676G;ENSP00000434821:E638G;ENSP00000452493:E638G;ENSP00000267383:E676G	ENSP00000267383:E676G	E	-	2	0	CDH24	22587462	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.913000	0.63341	1.621000	0.50320	0.482000	0.46254	GAG		0.667	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		4	167	4	167	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr15:57837818C>T	ENST00000281282.5	+	17	3607	c.3529C>T	c.(3529-3531)Cgg>Tgg	p.R1177W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1177						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTCAGCAACCGGCGGCTGGA	0.602																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3529-3531)Cgg>Tgg		cingulin-like 1							48.0	38.0	42.0					15																	57837818		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57837818C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3529C>T	15.37:g.57837818C>T	ENSP00000281282:p.Arg1177Trp		Somatic					p.R1177W	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	WXS	Illumina GAIIx	Phase_I	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	17	3607	+			1177					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.3529C>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512031	0.85389	.	.	ENSG00000128849	ENST00000281282	D	0.86497	-2.13	5.39	4.39	0.52855	Myosin tail (1);	0.000000	0.45606	D	0.000346	D	0.95101	0.8413	M	0.93328	3.405	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96272	0.9199	10	0.87932	D	0	-18.1864	16.8173	0.85737	0.1373:0.8627:0.0:0.0	.	1177	Q0VF96	CGNL1_HUMAN	W	1177	ENSP00000281282:R1177W	ENSP00000281282:R1177W	R	+	1	2	CGNL1	55625110	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.876000	0.63079	2.526000	0.85167	0.563000	0.77884	CGG		0.602	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		3	32	3	32	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:10350362C>T	ENST00000255381.2	-	35	5247	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1713					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTTCACTGGCATCCAGAAGC	0.488																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5137-5139)Gcc>Acc		myosin, heavy chain 4, skeletal muscle							150.0	122.0	132.0					17																	10350362		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350362C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5137G>A	17.37:g.10350362C>T	ENSP00000255381:p.Ala1713Thr		Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.A1713T	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	Q9Y623	MYH4_HUMAN			35	5247	-			1713						Missense_Mutation	SNP	ENST00000255381.2	37	c.5137G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080802	0.55753	.	.	ENSG00000141048	ENST00000255381	T	0.79749	-1.3	5.29	5.29	0.74685	Myosin tail (1);	0.000000	0.37136	U	0.002221	T	0.81870	0.4914	M	0.62723	1.935	0.48288	D	0.999624	B	0.17038	0.02	B	0.30029	0.11	T	0.78168	-0.2309	10	0.51188	T	0.08	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1713	Q9Y623	MYH4_HUMAN	T	1713	ENSP00000255381:A1713T	ENSP00000255381:A1713T	A	-	1	0	MYH4	10291087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.028000	0.70889	2.646000	0.89796	0.563000	0.77884	GCC		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		41	66	41	66	---	---	---	---
KRTAP3-3	85293	broad.mit.edu	37	17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:39150283C>G	ENST00000391586.1	-	1	102	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	23	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGATTTGTCAGAGGAGCAG	0.582																																						ENST00000391586.1																			0				lung(2)|prostate(2)	4						c.(67-69)Gac>Cac		keratin associated protein 3-3							90.0	90.0	90.0					17																	39150283		2203	4296	6499	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150283C>G	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.67G>C	17.37:g.39150283C>G	ENSP00000375428:p.Asp23His		Somatic					p.D23H	NM_033185.2	NP_149441.1	WXS	Illumina GAIIx	Phase_I	Q9BYR6	KRA33_HUMAN			1	102	-		Breast(137;0.00043)	23			3 X 5 AA repeats of C-C-X(3).		Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.67G>C	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342901	0.41498	.	.	ENSG00000212899	ENST00000391586	T	0.34472	1.36	5.62	5.62	0.85841	.	0.095279	0.45606	D	0.000351	T	0.58991	0.2161	.	.	.	0.43448	D	0.995631	D	0.63880	0.993	D	0.64877	0.93	T	0.62181	-0.6908	9	0.87932	D	0	.	15.232	0.73398	0.0:1.0:0.0:0.0	.	23	Q9BYR6	KRA33_HUMAN	H	23	ENSP00000375428:D23H	ENSP00000375428:D23H	D	-	1	0	KRTAP3-3	36403809	0.987000	0.35691	0.614000	0.29051	0.005000	0.04900	3.511000	0.53400	2.652000	0.90054	0.650000	0.86243	GAC		0.582	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			9	156	9	156	---	---	---	---
IMPACT	55364	broad.mit.edu	37	18	22008832	22008832	+	Splice_Site	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:22008832G>A	ENST00000284202.4	+	3	306		c.e3-1		Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein						negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTGCATTGTAGGTGATGCTGC	0.373																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.e3-1		impact RWD domain protein							123.0	109.0	114.0					18																	22008832		2203	4300	6503	SO:0001630	splice_region_variant	55364							g.chr18:22008832G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.166-1G>A	18.37:g.22008832G>A			Somatic						NM_018439.3	NP_060909	WXS	Illumina GAIIx	Phase_I	Q9P2X3	IMPCT_HUMAN			3	306	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)							A8MXG0|Q49AM0|Q9H2X4	Splice_Site	SNP	ENST00000284202.4	37		CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124245	0.56613	.	.	ENSG00000154059	ENST00000284202	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.304	0.87190	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IMPACT	20262830	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	7.361000	0.79497	2.434000	0.82447	0.561000	0.74099	.		0.373	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	Intron	6	50	6	50	---	---	---	---
ZNF317	57693	broad.mit.edu	37	19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:9271565A>G	ENST00000247956.6	+	7	1549	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATCGTCAAGAAACCCGTG	0.502																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1243-1245)aAg>aGg		zinc finger protein 317							77.0	78.0	78.0					19																	9271565		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271565A>G	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1244A>G	19.37:g.9271565A>G	ENSP00000247956:p.Lys415Arg		Somatic				ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	p.K415R	NM_020933.4	NP_065984.3	WXS	Illumina GAIIx	Phase_I	Q96PQ6	ZN317_HUMAN			7	1549	+			415					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1244A>G	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053851	0.36277	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.20463	2.07;2.07	2.92	2.92	0.33932	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000444	T	0.16769	0.0403	L	0.31157	0.91	0.32371	N	0.55587	P;B	0.50528	0.936;0.057	P;B	0.44477	0.451;0.032	T	0.17899	-1.0354	10	0.87932	D	0	-32.619	9.5634	0.39383	1.0:0.0:0.0:0.0	.	383;415	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	R	415;383	ENSP00000247956:K415R;ENSP00000353554:K383R	ENSP00000247956:K415R	K	+	2	0	ZNF317	9132565	1.000000	0.71417	0.548000	0.28192	0.662000	0.39071	4.559000	0.60796	1.592000	0.50018	0.402000	0.26972	AAG		0.502	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		24	42	24	42	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12978320	12978320	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:12978320C>T	ENST00000251472.4	+	19	2211	c.2172C>T	c.(2170-2172)caC>caT	p.H724H		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGTCGCAGCACGAGCCCAAGA	0.652																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2170-2172)caC>caT		microtubule associated serine/threonine kinase 1							53.0	61.0	59.0					19																	12978320		2202	4300	6502	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12978320C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2172C>T	19.37:g.12978320C>T			Somatic					p.H724H	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H9	MAST1_HUMAN			19	2211	+			724						Silent	SNP	ENST00000251472.4	37	c.2172C>T	CCDS32921.1																																																																																				0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		5	126	5	126	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17122423	17122423	+	Missense_Mutation	SNP	C	C	A	rs201463563	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:17122423C>A	ENST00000443236.1	-	4	584	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L	CPAMD8_ENST00000388925.4_Missense_Mutation_p.V138L|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	138						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCTGTACACAGGCTTGTCC	0.637													C|||	15	0.00299521	0.0	0.0	5008	,	,		14175	0.0		0.0	False		,,,				2504	0.0153					ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(553-555)Gtg>Ttg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	LEU/VAL	1,3857		0,1,1928	90.0	94.0	93.0		553	0.5	0.9	19		93	2,8276		0,2,4137	yes	missense	CPAMD8	NM_015692.2	32	0,3,6065	AA,AC,CC		0.0242,0.0259,0.0247	benign	185/1933	17122423	3,12133	1929	4139	6068	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122423C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.553G>T	19.37:g.17122423C>A	ENSP00000402505:p.Val185Leu		Somatic				CPAMD8_ENST00000388925.4_Missense_Mutation_p.V138L|CTD-2528A14.1_ENST00000595134.1_RNA	p.V185L	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			4	584	-			138					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.553G>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	3.022	-0.201563	0.06219	2.59E-4	2.42E-4	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.71461	-0.57;-0.57	3.06	0.509	0.16977	Alpha-2-macroglobulin, N-terminal (1);	0.230467	0.26673	U	0.023086	T	0.52948	0.1766	L	0.39467	1.215	0.24548	N	0.994036	B	0.20550	0.046	B	0.22601	0.04	T	0.34428	-0.9829	10	0.37606	T	0.19	.	3.2353	0.06762	0.1707:0.551:0.1677:0.1107	.	138	Q8IZJ3	CPMD8_HUMAN	L	185;138	ENSP00000291440:V185L;ENSP00000373577:V138L	ENSP00000291440:V185L	V	-	1	0	CPAMD8	16983423	0.050000	0.20438	0.897000	0.35233	0.409000	0.31022	0.210000	0.17455	1.281000	0.44480	0.591000	0.81541	GTG		0.637	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		5	173	5	173	---	---	---	---
IFI30	10437	broad.mit.edu	37	19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:18285887C>A	ENST00000407280.3	+	2	345	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	57					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGAAGAAGTCCAATGCACCG	0.582																																						ENST00000407280.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(169-171)tCc>tAc		interferon, gamma-inducible protein 30							59.0	60.0	60.0					19																	18285887		1954	4133	6087	SO:0001583	missense	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18285887C>A	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.170C>A	19.37:g.18285887C>A	ENSP00000384886:p.Ser57Tyr		Somatic				PIK3R2_ENST00000593731.1_3'UTR	p.S57Y	NM_006332.3	NP_006323.2	WXS	Illumina GAIIx	Phase_I	P13284	GILT_HUMAN			2	345	+								Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	c.170C>A	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935869	0.52972	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.22	2.01	0.26516	.	.	.	.	.	T	0.43166	0.1235	L	0.55213	1.73	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.28170	-1.0052	8	0.10377	T	0.69	-41.9989	9.633	0.39791	0.0:0.8211:0.0:0.1789	.	57	P13284	GILT_HUMAN	Y	57	.	ENSP00000384886:S57Y	S	+	2	0	IFI30	18146887	0.406000	0.25344	0.003000	0.11579	0.006000	0.05464	2.129000	0.42055	0.519000	0.28406	0.491000	0.48974	TCC		0.582	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		13	31	13	31	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Interaction with MAGEC2.|Leucine zipper alpha helical coiled-coil region.|RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1126-1128)ctC>ctG		tripartite motif containing 28							71.0	71.0	71.0					19																	59059687		2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59059687C>G		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1128C>G	19.37:g.59059687C>G			Somatic				TRIM28_ENST00000341753.6_Silent_p.L294L	p.L376L	NM_005762.2	NP_005753.1	WXS	Illumina GAIIx	Phase_I	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	8	1417	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	376			Leucine zipper alpha helical coiled-coil region.|RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.1128C>G	CCDS12985.1																																																																																				0.542	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		3	88	3	88	---	---	---	---
OR13H1	347468	broad.mit.edu	37	X	130678204	130678204	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:130678204C>T	ENST00000338616.3	+	1	255	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCACTTTGACCCCAACCTCCA	0.413																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(157-159)Ccc>Tcc		olfactory receptor, family 13, subfamily H, member 1							198.0	164.0	176.0					X																	130678204		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678204C>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.157C>T	X.37:g.130678204C>T	ENSP00000340748:p.Pro53Ser		Somatic					p.P53S	NM_001004486.1	NP_001004486.1	WXS	Illumina GAIIx	Phase_I	Q8NG92	O13H1_HUMAN			1	255	+	Acute lymphoblastic leukemia(192;0.000636)		53					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.157C>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.030886	0.00041	.	.	ENSG00000171054	ENST00000338616	T	0.00514	6.88	4.87	-2.79	0.05841	GPCR, rhodopsin-like superfamily (1);	0.839018	0.09967	N	0.732670	T	0.00271	0.0008	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37572	-0.9700	10	0.02654	T	1	.	7.4986	0.27505	0.0:0.1944:0.1419:0.6637	.	53	Q8NG92	O13H1_HUMAN	S	53	ENSP00000340748:P53S	ENSP00000340748:P53S	P	+	1	0	OR13H1	130505885	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.097000	0.11042	-0.677000	0.05231	-0.881000	0.02953	CCC		0.413	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			70	49	70	49	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37310452	37310453	+	Frame_Shift_Ins	INS	-	-	T	rs532790945		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:37310452_37310453insT	ENST00000233099.5	-	2	200_201	c.105_106insA	c.(103-108)aaagtcfs	p.V36fs	GPATCH11_ENST00000281932.5_5'Flank|HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs|GPATCH11_ENST00000409774.1_5'Flank|GPATCH11_ENST00000608836.1_5'Flank	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	36						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGAA	0.371																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(103-108)aaagtcfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37310452_37310453insT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.106dupA	2.37:g.37310455_37310455dupT	ENSP00000233099:p.Val36fs		Somatic				HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs	p.V36fs	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			2	200_201	-		all_hematologic(82;0.21)	36					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.105_106insA	CCDS33181.1																																																																																				0.371	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		31	58	31	58	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17221576	17221577	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:17221576_17221577insT	ENST00000261381.6	-	10	2253_2254	c.2169_2170insA	c.(2167-2172)aaagtcfs	p.V724fs		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	724					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTTGAAGACTTTTTTCGGCA	0.49																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2167-2172)aaagtcfs		xylosyltransferase I																																				SO:0001589	frameshift_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17221576_17221577insT	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2170dupA	16.37:g.17221582_17221582dupT	ENSP00000261381:p.Val724fs		Somatic					p.V724fs	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			10	2253_2254	-			724					Q9H1B6	Frame_Shift_Ins	INS	ENST00000261381.6	37	c.2169_2170insA	CCDS10569.1																																																																																				0.490	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		22	186	22	186	---	---	---	---
