#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ASB9	140462	broad.mit.edu	37	X	15267054	15267054	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chrX:15267054G>A	ENST00000380488.4	-	6	845	c.572C>T	c.(571-573)gCg>gTg	p.A191V	ASB9_ENST00000380485.3_Missense_Mutation_p.A191V|ASB9_ENST00000546332.1_Missense_Mutation_p.A191V|ASB9_ENST00000380483.3_Missense_Mutation_p.A181V|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	191					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTCACGTCCGCTCCTAAACA	0.532																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(571-573)gCg>gTg		ankyrin repeat and SOCS box containing 9							52.0	44.0	47.0					X																	15267054		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15267054G>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.572C>T	X.37:g.15267054G>A	ENSP00000369855:p.Ala191Val					ASB9_ENST00000380488.4_Missense_Mutation_p.A191V|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.A191V|ASB9_ENST00000380483.3_Missense_Mutation_p.A181V	p.A191V	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			7	1055	-	Hepatocellular(33;0.183)		191					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.572C>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562092	0.27915	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.80653	-1.4;0.19;0.19;0.19	5.83	3.1	0.35709	Ankyrin repeat-containing domain (4);	0.150635	0.64402	N	0.000015	D	0.85699	0.5757	M	0.66560	2.04	0.47819	D	0.999526	P;D;D;D	0.63046	0.488;0.986;0.991;0.992	B;D;P;P	0.63113	0.228;0.911;0.6;0.711	D	0.84168	0.0432	10	0.66056	D	0.02	-5.3201	10.2401	0.43308	0.2224:0.0:0.7776:0.0	.	162;181;191;191	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	V	181;191;191;191	ENSP00000369850:A181V;ENSP00000369852:A191V;ENSP00000369855:A191V;ENSP00000438943:A191V	ENSP00000369850:A181V	A	-	2	0	ASB9	15176975	1.000000	0.71417	0.253000	0.24343	0.005000	0.04900	3.272000	0.51616	0.216000	0.20781	0.600000	0.82982	GCG		0.532	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			12	22	0	0	0	1	0	12	22				
ESPNP	284729	broad.mit.edu	37	1	17017717	17017717	+	RNA	SNP	C	C	T	rs12561804	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:17017717C>T	ENST00000492551.1	-	0	2010					NR_026567.1				espin pseudogene																		GCTCACCTCTCTTCTTCCAGC	0.622																																						ENST00000492551.1																			0																																																			284729							g.chr1:17017717C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017717C>T								NR_026567.1						0	2010	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			9	24	0	0	0	1	0	9	24				
MDC1	9656	broad.mit.edu	37	6	30680011	30680011	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr6:30680011C>T	ENST00000376406.3	-	5	2355	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T	MDC1_ENST00000376405.2_Missense_Mutation_p.A570T|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	570					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGAGGCCAGGCTTCCTCTAGA	0.507								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1708-1710)Gcc>Acc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							62.0	61.0	61.0					6																	30680011		1510	2709	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680011C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1708G>A	6.37:g.30680011C>T	ENSP00000365588:p.Ala570Thr					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A570T	p.A570T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	2355	-			570					A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1708G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589901	0.28357	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03181	4.11;4.02	4.27	2.45	0.29901	.	0.747973	0.10971	N	0.613820	T	0.02047	0.0064	L	0.56769	1.78	0.09310	N	1	B;B;P;B	0.47409	0.244;0.037;0.895;0.037	B;B;P;B	0.44518	0.082;0.033;0.452;0.018	T	0.45659	-0.9246	10	0.52906	T	0.07	0.0043	5.5226	0.16941	0.0:0.6851:0.2038:0.1111	.	570;442;570;570	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	T	570;570;570;442	ENSP00000365588:A570T;ENSP00000365587:A570T	ENSP00000365587:A570T	A	-	1	0	MDC1	30787990	0.000000	0.05858	0.009000	0.14445	0.033000	0.12548	-0.210000	0.09345	0.429000	0.26202	0.462000	0.41574	GCC		0.507	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		7	64	0	0	0	1	0	7	64				
RPL34	6164	broad.mit.edu	37	4	109543293	109543293	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr4:109543293T>G	ENST00000394668.2	+	3	164	c.98T>G	c.(97-99)cTt>cGt	p.L33R	RPL34_ENST00000506397.1_Missense_Mutation_p.L33R|RPL34_ENST00000394665.1_Missense_Mutation_p.L33R|RPL34-AS1_ENST00000507248.1_lincRNA|RPL34_ENST00000502534.1_Missense_Mutation_p.L33R|RPL34_ENST00000394667.3_Missense_Mutation_p.L33R	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	33					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		ATTGTTTACCTTTATACCAAG	0.413																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(97-99)cTt>cGt		ribosomal protein L34							65.0	71.0	69.0					4																	109543293		2203	4300	6503	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109543293T>G	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"""L ribosomal proteins"""	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.98T>G	4.37:g.109543293T>G	ENSP00000378163:p.Leu33Arg					RPL34_ENST00000394667.3_Missense_Mutation_p.L33R|RPL34_ENST00000394665.1_Missense_Mutation_p.L33R|RPL34_ENST00000502534.1_Missense_Mutation_p.L33R|RPL34_ENST00000506397.1_Missense_Mutation_p.L33R	p.L33R	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	3	164	+		Hepatocellular(203;0.217)	33					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.98T>G	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440189	0.83993	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	L	0.58302	1.8	0.80722	D	1	D	0.63046	0.992	D	0.67382	0.951	T	0.77405	-0.2600	9	0.66056	D	0.02	.	15.077	0.72084	0.0:0.0:0.0:1.0	.	33	P49207	RL34_HUMAN	R	33	.	ENSP00000378160:L33R	L	+	2	0	RPL34	109762742	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.647000	0.83462	2.092000	0.63282	0.533000	0.62120	CTT		0.413	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		5	74	0	0	0	1	0	5	74				
DNM1P47	100216544	broad.mit.edu	37	15	102303120	102303120	+	RNA	SNP	C	C	G	rs547715901	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr15:102303120C>G	ENST00000561463.1	+	0	11166									DNM1 pseudogene 47																		CTTCTCAGAGCTGCTGTCCAA	0.592													.|||	3	0.000599042	0.0015	0.0014	5008	,	,		36190	0.0		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			100216544							g.chr15:102303120C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303120C>G														0	11166	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	34	0	0	0	1	0	3	34				
CSDE1	7812	broad.mit.edu	37	1	115272878	115272878	+	Splice_Site	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:115272878C>T	ENST00000358528.4	-	12	1783		c.e12+1		CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000438362.2_Splice_Site	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAAACCTACCTTCTCTTTG	0.368																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e12+1		cold shock domain containing E1, RNA-binding							138.0	142.0	141.0					1																	115272878		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272878C>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1356+1G>A	1.37:g.115272878C>T						CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site		NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1873	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37		CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557140	0.86231	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSDE1	115074401	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.448000	0.80631	2.666000	0.90696	0.655000	0.94253	.		0.368	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Intron	10	71	0	0	0	1	0	10	71				
BTBD10	84280	broad.mit.edu	37	11	13441043	13441043	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr11:13441043G>C	ENST00000278174.5	-	4	793	c.548C>G	c.(547-549)tCc>tGc	p.S183C	BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Missense_Mutation_p.S135C|BTBD10_ENST00000530907.1_Missense_Mutation_p.S191C	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	183	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGTAAAAATGGATGGGTCTAC	0.338																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(547-549)tCc>tGc		BTB (POZ) domain containing 10							124.0	128.0	127.0					11																	13441043		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13441043G>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.548C>G	11.37:g.13441043G>C	ENSP00000278174:p.Ser183Cys					BTBD10_ENST00000530907.1_Missense_Mutation_p.S191C|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Missense_Mutation_p.S135C	p.S183C	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	4	793	-			183			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.548C>G	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220020	0.79464	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.50277	0.75;0.75;0.75	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.64170	1.965	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;D;D;D	0.64595	0.874;0.927;0.927;0.927	T	0.68644	-0.5354	10	0.72032	D	0.01	-49.2739	18.8084	0.92048	0.0:0.0:1.0:0.0	.	152;191;183;183	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	C	183;191;135	ENSP00000278174:S183C;ENSP00000431186:S191C;ENSP00000435257:S135C	ENSP00000278174:S183C	S	-	2	0	BTBD10	13397619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.727000	0.84838	2.534000	0.85438	0.650000	0.86243	TCC		0.338	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		7	108	0	0	0	1	0	7	108				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	37	0	0	0	1	0	3	37				
TM9SF4	9777	broad.mit.edu	37	20	30732974	30732974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr20:30732974G>T	ENST00000398022.2	+	7	968	c.733G>T	c.(733-735)Gag>Tag	p.E245*	TM9SF4_ENST00000217315.5_Nonsense_Mutation_p.E228*	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	245						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCACCAAGGAGAATCAGCT	0.557																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(682-684)Gag>Tag		transmembrane 9 superfamily protein member 4							130.0	113.0	119.0					20																	30732974		2203	4300	6503	SO:0001587	stop_gained	9777					integral to membrane		g.chr20:30732974G>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.733G>T	20.37:g.30732974G>T	ENSP00000381104:p.Glu245*					TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.E245*	p.E228*			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	1022	+			245					B0QYT7|Q9NUA3	Nonsense_Mutation	SNP	ENST00000398022.2	37	c.682G>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	39	7.329571	0.98214	.	.	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-13.8986	17.783	0.88529	0.0:0.0:1.0:0.0	.	.	.	.	X	245;171;228	.	ENSP00000217315:E228X	E	+	1	0	TM9SF4	30196635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.910000	0.69931	2.873000	0.98535	0.561000	0.74099	GAG		0.557	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		11	64	1	0	0.00829132	1	0.00852163	11	64				
A2M	2	broad.mit.edu	37	12	9242536	9242536	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr12:9242536C>T	ENST00000318602.7	-	21	2987	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	894					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCTTTCCTTCCGTGTTCAGGA	0.393																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2680-2682)Gga>Aga		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						76.0	74.0	75.0					12																	9242536		1877	4108	5985	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9242536C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2680G>A	12.37:g.9242536C>T	ENSP00000323929:p.Gly894Arg						p.G894R	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			21	2987	-			894					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2680G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819719	0.71028	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.62788	-0.0	5.68	5.68	0.88126	.	0.077649	0.56097	D	0.000040	T	0.60547	0.2277	M	0.63428	1.95	0.51012	D	0.999909	P	0.46395	0.877	B	0.37304	0.246	T	0.66803	-0.5831	10	0.54805	T	0.06	.	18.364	0.90384	0.0:1.0:0.0:0.0	.	894	P01023	A2MG_HUMAN	R	894;909	ENSP00000323929:G894R	ENSP00000323929:G894R	G	-	1	0	A2M	9133803	1.000000	0.71417	0.953000	0.39169	0.488000	0.33401	5.372000	0.66156	2.674000	0.91012	0.655000	0.94253	GGA		0.393	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		11	65	0	0	0	1	0	11	65				
KSR1	8844	broad.mit.edu	37	17	25932726	25932726	+	Silent	SNP	C	C	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr17:25932726C>T	ENST00000319524.6	+	15	1947	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	KSR1_ENST00000398988.3_Silent_p.D512D|KSR1_ENST00000268763.6_Silent_p.D512D|KSR1_ENST00000509603.2_Silent_p.D627D			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAACCAGGACCACCTGAAGC	0.667																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1534-1536)gaC>gaT		kinase suppressor of ras 1							19.0	21.0	20.0					17																	25932726		2035	4185	6220	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932726C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1947C>T	17.37:g.25932726C>T						KSR1_ENST00000509603.2_Silent_p.D627D|KSR1_ENST00000268763.6_Silent_p.D512D|KSR1_ENST00000319524.6_Silent_p.D649D	p.D512D	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	1981	+	Lung NSC(42;0.00836)		647					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1536C>T		.	.	.	.	.	.	.	.	.	.	C	9.963	1.223407	0.22457	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.67	2.62	0.31277	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46176	-0.9210	4	.	.	.	.	7.4933	0.27475	0.0:0.5783:0.0:0.4217	.	.	.	.	S	363	.	.	P	+	1	0	KSR1	22956853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.167000	0.31847	0.342000	0.23796	0.655000	0.94253	CCA		0.667	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		11	20	0	0	0	1	0	11	20				
TTN	7273	broad.mit.edu	37	2	179418227	179418227	+	Splice_Site	SNP	A	A	T			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:179418227A>T	ENST00000591111.1	-	284	84805		c.e284+1		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGGTACATACCAAGTATAT	0.343																																						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.e334+1		titin							88.0	86.0	87.0					2																	179418227		1845	4088	5933	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418227A>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.84580+1T>A	2.37:g.179418227A>T						TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		334	89728	-								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	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	A	17.30	3.354156	0.61293	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0863	0.81056	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179126473	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	.		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	12	71	0	0	0	1	0	12	71				
CALCRL	10203	broad.mit.edu	37	2	188211041	188211041	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:188211041G>A	ENST00000409998.1	-	16	2037	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	CALCRL_ENST00000392370.3_Missense_Mutation_p.A419V|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.A419V			Q16602	CALRL_HUMAN	calcitonin receptor-like	419					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGTGTAAGACGCACTACGAAG	0.373																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(1255-1257)gCg>gTg		calcitonin receptor-like							128.0	120.0	123.0					2																	188211041		2203	4299	6502	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188211041G>A	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1256C>T	2.37:g.188211041G>A	ENSP00000386972:p.Ala419Val					CALCRL_ENST00000410068.1_Missense_Mutation_p.A419V|CALCRL_ENST00000392370.3_Missense_Mutation_p.A419V|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	p.A419V			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		16	2037	-			419					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.1256C>T	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291314	0.59976	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.64260	-0.09;-0.09;-0.09	5.7	5.7	0.88788	.	0.097167	0.43416	D	0.000572	T	0.51075	0.1653	L	0.31926	0.97	0.54753	D	0.99998	B	0.16166	0.016	B	0.11329	0.006	T	0.42361	-0.9456	10	0.28530	T	0.3	.	14.1147	0.65146	0.074:0.0:0.926:0.0	.	419	Q16602	CALRL_HUMAN	V	419	ENSP00000376177:A419V;ENSP00000386972:A419V;ENSP00000387190:A419V	ENSP00000376177:A419V	A	-	2	0	CALCRL	187919286	1.000000	0.71417	0.994000	0.49952	0.894000	0.52154	7.623000	0.83113	2.673000	0.90976	0.655000	0.94253	GCG		0.373	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		10	73	0	0	0	1	0	10	73				
ZNF324	25799	broad.mit.edu	37	19	58983066	58983066	+	Missense_Mutation	SNP	G	G	A	rs201782487		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr19:58983066G>A	ENST00000536459.2	+	4	1916	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.G403S|ZNF324_ENST00000535298.1_Missense_Mutation_p.G180S			O75467	Z324A_HUMAN	zinc finger protein 324	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGCTCTGCGGTGCTGCCTT	0.662																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1207-1209)Ggt>Agt		zinc finger protein 324							40.0	38.0	39.0					19																	58983066		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983066G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1207G>A	19.37:g.58983066G>A	ENSP00000444812:p.Gly403Ser					ZNF324_ENST00000535298.1_Missense_Mutation_p.G180S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G403S	p.G403S			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1916	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	403					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1207G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453252	0.63290	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.57752	0.38;0.38;0.38	3.66	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000664	T	0.59945	0.2231	L	0.28608	0.87	0.49299	D	0.999773	D	0.89917	1.0	D	0.97110	1.0	T	0.64309	-0.6438	10	0.72032	D	0.01	.	13.654	0.62327	0.0:0.0:1.0:0.0	.	403	O75467	Z324A_HUMAN	S	403;403;393;180	ENSP00000196482:G403S;ENSP00000444812:G403S;ENSP00000439588:G180S	ENSP00000196482:G403S	G	+	1	0	ZNF324	63674878	1.000000	0.71417	0.142000	0.22268	0.145000	0.21501	5.891000	0.69782	2.330000	0.79161	0.400000	0.26472	GGT		0.662	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	54	0	0	0	1	0	3	54				
UBN1	29855	broad.mit.edu	37	16	4920308	4920308	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr16:4920308T>G	ENST00000396658.4	+	8	1980	c.1277T>G	c.(1276-1278)cTc>cGc	p.L426R	UBN1_ENST00000590769.1_Missense_Mutation_p.L426R|UBN1_ENST00000545171.1_Missense_Mutation_p.L426R|UBN1_ENST00000262376.6_Missense_Mutation_p.L426R|UBN1_ENST00000585857.1_3'UTR	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	426					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GATGCCCTGCTCAAGCGTGCT	0.572																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1276-1278)cTc>cGc		ubinuclein 1							87.0	71.0	76.0					16																	4920308		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4920308T>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1277T>G	16.37:g.4920308T>G	ENSP00000379894:p.Leu426Arg					UBN1_ENST00000590769.1_Missense_Mutation_p.L426R|UBN1_ENST00000545171.1_Missense_Mutation_p.L426R|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.L426R	p.L426R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			8	1980	+			426					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.1277T>G	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.227717	0.58668	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46451	0.87;0.87;0.87	5.33	4.25	0.50352	.	0.498899	0.20388	N	0.093303	T	0.46112	0.1376	L	0.39147	1.195	0.32938	D	0.518063	P;P	0.42203	0.731;0.773	P;P	0.51742	0.549;0.678	T	0.60429	-0.7265	10	0.87932	D	0	-0.715	10.558	0.45129	0.0:0.0755:0.0:0.9245	.	426;426	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	R	426	ENSP00000262376:L426R;ENSP00000442379:L426R;ENSP00000379894:L426R	ENSP00000262376:L426R	L	+	2	0	UBN1	4860309	1.000000	0.71417	0.919000	0.36401	0.914000	0.54420	5.118000	0.64673	2.029000	0.59856	0.533000	0.62120	CTC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		6	41	0	0	0	1	0	6	41				
PSD4	23550	broad.mit.edu	37	2	113940295	113940295	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:113940295C>G	ENST00000245796.6	+	2	457	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Missense_Mutation_p.Q88E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	88					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCCTTGCCAGGAGCAAAC	0.637																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(262-264)Cag>Gag		pleckstrin and Sec7 domain containing 4							48.0	51.0	50.0					2																	113940295		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940295C>G	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.262C>G	2.37:g.113940295C>G	ENSP00000245796:p.Gln88Glu					PSD4_ENST00000441564.2_Missense_Mutation_p.Q88E|PSD4_ENST00000465917.1_3'UTR	p.Q88E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	457	+			88					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.262C>G	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.886429	0.00527	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.13420	2.81;2.59	3.15	-6.31	0.02001	.	3.902190	0.00649	N	0.000541	T	0.07188	0.0182	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39461	-0.9613	10	0.06099	T	0.92	.	10.8558	0.46798	0.1949:0.6668:0.1383:0.0	.	88;88	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	E	88	ENSP00000245796:Q88E;ENSP00000413997:Q88E	ENSP00000245796:Q88E	Q	+	1	0	PSD4	113656766	0.691000	0.27709	0.000000	0.03702	0.014000	0.08584	0.709000	0.25734	-2.334000	0.00630	-1.086000	0.02197	CAG		0.637	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		7	45	0	0	0	1	0	7	45				
PTGS1	5742	broad.mit.edu	37	9	125140786	125140786	+	Missense_Mutation	SNP	C	C	T	rs200494275	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr9:125140786C>T	ENST00000362012.2	+	4	291	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.R96C|PTGS1_ENST00000540753.1_Missense_Mutation_p.R71C	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	96					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CACTCACGGGCGCTGGTTCTG	0.632													C|||	3	0.000599042	0.0	0.0	5008	,	,		19078	0.0		0.003	False		,,,				2504	0.0					ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(286-288)Cgc>Tgc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						78.0	79.0	79.0					9																	125140786		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125140786C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.286C>T	9.37:g.125140786C>T	ENSP00000354612:p.Arg96Cys					PTGS1_ENST00000540753.1_Missense_Mutation_p.R71C|PTGS1_ENST00000223423.4_Missense_Mutation_p.R96C|PTGS1_ENST00000373698.5_5'UTR	p.R96C	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			4	291	+			96					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.286C>T	CCDS6842.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	16.98	3.270406	0.59540	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.68	4.77	0.60923	.	0.445774	0.27388	N	0.019583	T	0.67515	0.2901	L	0.47190	1.495	0.80722	D	1	D;D;D	0.65815	0.975;0.979;0.995	P;B;P	0.54924	0.582;0.33;0.764	T	0.69435	-0.5146	10	0.72032	D	0.01	-10.3523	6.9641	0.24613	0.2721:0.6421:0.0:0.0858	.	71;96;96	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	C	71;96;96;54	ENSP00000437709:R71C;ENSP00000354612:R96C;ENSP00000223423:R96C;ENSP00000411606:R54C	ENSP00000223423:R96C	R	+	1	0	PTGS1	124180607	0.353000	0.24904	0.918000	0.36340	0.846000	0.48090	1.570000	0.36439	1.373000	0.46208	0.563000	0.77884	CGC		0.632	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			7	70	0	0	0	1	0	7	70				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	24	0	0	0	1	0	4	24				
DST	667	broad.mit.edu	37	6	56504748	56504748	+	Silent	SNP	G	G	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr6:56504748G>A	ENST00000361203.3	-	15	1972	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	DST_ENST00000421834.2_Silent_p.L655L|DST_ENST00000244364.6_Silent_p.L329L|DST_ENST00000312431.6_Silent_p.L655L|DST_ENST00000370769.4_Silent_p.L655L|DST_ENST00000370765.6_Silent_p.L329L|DST_ENST00000370754.5_Silent_p.L833L|DST_ENST00000370788.2_Silent_p.L655L|DST_ENST00000446842.2_Silent_p.L329L|DST_ENST00000518935.1_Silent_p.L329L			Q03001	DYST_HUMAN	dystonin	655					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGCTTCTTTGAGACTAGATT	0.323																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2497-2499)ctC>ctT		dystonin							52.0	56.0	55.0					6																	56504748		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504748G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1965C>T	6.37:g.56504748G>A						DST_ENST00000370769.4_Silent_p.L655L|DST_ENST00000370788.2_Silent_p.L655L|DST_ENST00000446842.2_Silent_p.L329L|DST_ENST00000361203.3_Silent_p.L655L|DST_ENST00000370765.6_Silent_p.L329L|DST_ENST00000421834.2_Silent_p.L655L|DST_ENST00000312431.6_Silent_p.L655L|DST_ENST00000518935.1_Silent_p.L329L|DST_ENST00000244364.6_Silent_p.L329L	p.L833L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		18	2498	-	Lung NSC(77;0.103)		655					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.2499C>T																																																																																					0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		23	104	0	0	0	1	0	23	104				
MUC17	140453	broad.mit.edu	37	7	100682737	100682737	+	Missense_Mutation	SNP	C	C	A	rs71286275		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:100682737C>A	ENST00000306151.4	+	3	8104	c.8040C>A	c.(8038-8040)agC>agA	p.S2680R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2680	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGGTAGCAGCATGCCAA	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8038-8040)agC>agA		mucin 17, cell surface associated							227.0	231.0	230.0					7																	100682737		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682737C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8040C>A	7.37:g.100682737C>A	ENSP00000302716:p.Ser2680Arg						p.S2680R	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8104	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2680			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8040C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.968	-0.437304	0.04636	.	.	ENSG00000169876	ENST00000306151	T	0.03635	3.86	0.827	0.827	0.18835	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.51140	-0.8743	9	0.24483	T	0.36	.	7.6253	0.28208	0.0:1.0:0.0:0.0	.	2680	Q685J3	MUC17_HUMAN	R	2680	ENSP00000302716:S2680R	ENSP00000302716:S2680R	S	+	3	2	MUC17	100469457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.688000	0.05150	0.750000	0.32877	0.134000	0.15878	AGC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	338	1	0	7.48243e-07	1	8.14264e-07	9	338				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	152	0	0	0	1	0	6	152				
IGHV1-45	28466	broad.mit.edu	37	14	106963220	106963220	+	RNA	SNP	A	A	C			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr14:106963220A>C	ENST00000390621.2	-	0	119									immunoglobulin heavy variable 1-45																		CACCAGCTGCATCTGGGAGTA	0.567																																						ENST00000390621.2																			0																				71.0	70.0	71.0					14																	106963220		1939	4146	6085			28466							g.chr14:106963220A>C	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963220A>C														0	119	-									RNA	SNP	ENST00000390621.2	37																																																																																						0.567	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		12	85	0	0	0	1	0	12	85				
APC	324	broad.mit.edu	37	5	112176079	112176079	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr5:112176079G>C	ENST00000457016.1	+	16	5168	c.4788G>C	c.(4786-4788)caG>caC	p.Q1596H	APC_ENST00000508376.2_Missense_Mutation_p.Q1596H|APC_ENST00000257430.4_Missense_Mutation_p.Q1596H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1596	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCCAGCCCAGACTGCTTCAA	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4786-4788)caG>caC		adenomatous polyposis coli							119.0	125.0	123.0					5																	112176079		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176079G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4788G>C	5.37:g.112176079G>C	ENSP00000413133:p.Gln1596His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.Q1596H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q1596H	p.Q1596H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5168	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1596			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4788G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652420	0.47362	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90069	-2.61;-2.61;-2.61	6.16	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	N	0.19112	0.55	0.34135	D	0.665766	D;D	0.67145	0.996;0.996	P;P	0.59703	0.862;0.862	D	0.85817	0.1383	9	.	.	.	-8.0613	7.1739	0.25734	0.2251:0.0:0.7749:0.0	.	1598;1596	Q4LE70;P25054	.;APC_HUMAN	H	1596	ENSP00000413133:Q1596H;ENSP00000257430:Q1596H;ENSP00000427089:Q1596H	.	Q	+	3	2	APC	112203978	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.790000	0.47821	2.937000	0.99478	0.650000	0.86243	CAG		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		28	130	0	0	0	1	0	28	130				
ITLN2	142683	broad.mit.edu	37	1	160920865	160920865	+	Missense_Mutation	SNP	A	A	T	rs141731306		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:160920865A>T	ENST00000368029.3	-	4	466	c.409T>A	c.(409-411)Tct>Act	p.S137T	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	137	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCTGCAGATCCAAAGGTG	0.597																																						ENST00000368029.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(409-411)Tct>Act		intelectin 2							205.0	172.0	183.0					1																	160920865		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160920865A>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.409T>A	1.37:g.160920865A>T	ENSP00000357008:p.Ser137Thr						p.S137T	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	466	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		137			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.409T>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653491	0.29425	.	.	ENSG00000158764	ENST00000368029	T	0.16324	2.35	4.09	1.39	0.22231	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.366899	0.20435	U	0.092385	T	0.02848	0.0085	L	0.31804	0.96	0.20489	N	0.999893	B;B	0.23128	0.037;0.08	B;B	0.24006	0.034;0.05	T	0.44892	-0.9298	10	0.22706	T	0.39	-7.3603	3.3526	0.07158	0.4354:0.0:0.1068:0.4579	.	136;137	A6NI51;Q8WWU7	.;ITLN2_HUMAN	T	137	ENSP00000357008:S137T	ENSP00000357008:S137T	S	-	1	0	ITLN2	159187489	0.942000	0.31987	0.999000	0.59377	0.973000	0.67179	0.433000	0.21477	0.096000	0.17463	0.459000	0.35465	TCT		0.597	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		13	97	0	0	0	1	0	13	97				
CRAMP1L	57585	broad.mit.edu	37	16	1723958	1723958	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr16:1723958A>G	ENST00000397412.3	+	21	3821	c.3722A>G	c.(3721-3723)cAa>cGa	p.Q1241R	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q1241R|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.Q616R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q1238R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1241	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GACCTGGCCCAAGAGCTGTCC	0.562																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3721-3723)cAa>cGa		Crm, cramped-like (Drosophila)							90.0	93.0	92.0					16																	1723958		2072	4225	6297	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1723958A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3722A>G	16.37:g.1723958A>G	ENSP00000380559:p.Gln1241Arg					CRAMP1L_ENST00000262317.4_Missense_Mutation_p.Q616R|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q1241R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q1238R	p.Q1241R			Q96RY5	CRML_HUMAN			21	3821	+			1241			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.3722A>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	34	5.294039	0.95546	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	L	0.36672	1.1	0.51012	D	0.999906	D	0.69078	0.997	D	0.77557	0.99	T	0.64782	-0.6326	9	0.33141	T	0.24	-13.8003	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1241	Q96RY5	CRML_HUMAN	R	1241;1241;1238;616	.	ENSP00000262317:Q616R	Q	+	2	0	CRAMP1L	1663959	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.645000	0.91049	2.326000	0.78906	0.533000	0.62120	CAA		0.562	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			10	65	0	0	0	1	0	10	65				
ALDH2	217	broad.mit.edu	37	12	112223106	112223106	+	Silent	SNP	C	C	A			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr12:112223106C>A	ENST00000261733.2	+	4	457	c.396C>A	c.(394-396)gtC>gtA	p.V132V	ALDH2_ENST00000416293.3_Silent_p.V85V|RP11-162P23.2_ENST00000546840.2_Nonsense_Mutation_p.S129*	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	132					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	AGCCCTATGTCATCTCCTACC	0.517			T	HMGA2	leiomyoma																																	ENST00000546840.2				Dom	yes		12	12q24.2	217		aldehyde dehydrogenase 2 family (mitochondrial)			M					0											c.(385-387)tCa>tAa									175.0	152.0	160.0					12																	112223106		2203	4300	6503	SO:0001819	synonymous_variant	217							g.chr12:112223106C>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.396C>A	12.37:g.112223106C>A						ALDH2_ENST00000416293.3_Silent_p.V85V|ALDH2_ENST00000261733.2_Silent_p.V132V	p.S129*							5	386	+								B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Nonsense_Mutation	SNP	ENST00000261733.2	37	c.386C>A	CCDS9155.1																																																																																				0.517	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		16	91	1	0	8.00594e-06	1	8.46342e-06	16	91				
ALS2	57679	broad.mit.edu	37	2	202606482	202606482	+	Silent	SNP	A	A	G			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:202606482A>G	ENST00000264276.6	-	11	2638	c.2266T>C	c.(2266-2268)Ttg>Ctg	p.L756L	ALS2_ENST00000457679.2_Silent_p.L68L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	756	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAGCTGCTCAATGAGGCTCCA	0.473																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2266-2268)Ttg>Ctg		amyotrophic lateral sclerosis 2 (juvenile)							66.0	65.0	66.0					2																	202606482		1956	4180	6136	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202606482A>G	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2266T>C	2.37:g.202606482A>G						ALS2_ENST00000457679.2_Silent_p.L68L	p.L756L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			11	2638	-			756			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.2266T>C	CCDS42800.1																																																																																				0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	35	0	0	0	1	0	5	35				
THSD7A	221981	broad.mit.edu	37	7	11514012	11514012	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:11514012G>C	ENST00000423059.4	-	8	2452	c.2201C>G	c.(2200-2202)aCa>aGa	p.T734R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	734	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACTTTTCTTGTCTGCATGCC	0.512										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2200-2202)aCa>aGa		thrombospondin, type I, domain containing 7A							106.0	105.0	105.0					7																	11514012		2023	4194	6217	SO:0001583	missense	221981					integral to membrane		g.chr7:11514012G>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2201C>G	7.37:g.11514012G>C	ENSP00000406482:p.Thr734Arg	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.T734R	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2452	-			734			TSP type-1 7.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2201C>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342489	0.81911	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61510	0.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	L	0.45228	1.405	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.64223	-0.6458	10	0.26408	T	0.33	.	18.9303	0.92563	0.0:0.0:1.0:0.0	.	734	Q9UPZ6	THS7A_HUMAN	R	734	ENSP00000406482:T734R	ENSP00000262042:T734R	T	-	2	0	THSD7A	11480537	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.813000	0.99286	2.550000	0.86006	0.563000	0.77884	ACA		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	62	0	0	0	1	0	3	62				
SLC4A2	6522	broad.mit.edu	37	7	150768535	150768535	+	Silent	SNP	G	G	A	rs531007948	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:150768535G>A	ENST00000485713.1	+	14	3074	c.2034G>A	c.(2032-2034)acG>acA	p.T678T	SLC4A2_ENST00000413384.2_Silent_p.T678T|SLC4A2_ENST00000461735.1_Silent_p.T664T|SLC4A2_ENST00000310317.5_Silent_p.T596T|SLC4A2_ENST00000392826.2_Silent_p.T669T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	678				AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 7; CAA27556). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCGGCGGACGGGGCGGCCCT	0.677																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2032-2034)acG>acA		solute carrier family 4 (anion exchanger), member 2																																				SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150768535G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2034G>A	7.37:g.150768535G>A						SLC4A2_ENST00000392826.2_Silent_p.T669T|SLC4A2_ENST00000413384.2_Silent_p.T678T|SLC4A2_ENST00000461735.1_Silent_p.T664T|SLC4A2_ENST00000310317.5_Silent_p.T596T	p.T678T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	3074	+			678	AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 6; CAA27556).				B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.2034G>A	CCDS5917.1																																																																																				0.677	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		7	16	0	0	0	1	0	7	16				
RPTN	126638	broad.mit.edu	37	1	152127903	152127903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:152127903delG	ENST00000316073.3	-	3	1736	c.1672delC	c.(1672-1674)cacfs	p.H558fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	558	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H558D(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCGTAGTGGGAACTCTGG	0.507																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.H558D(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1672-1674)acfs		repetin							675.0	601.0	624.0					1																	152127903		1568	3582	5150	SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127903delG	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1672delC	1.37:g.152127903delG	ENSP00000317895:p.His558fs						p.H558fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1736	-			558			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1672delC	CCDS41397.1																																																																																				0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	810						7	810	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155340331	155340340	+	Frame_Shift_Del	DEL	TTGATGAATC	TTGATGAATC	-			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:155340331_155340340delTTGATGAATC	ENST00000368346.3	-	12	7295_7304	c.6656_6665delGATTCATCAA	c.(6655-6666)cgattcatcaacfs	p.RFIN2219fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.RFIN2214fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2219	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACAGCTATGGTTGATGAATCGGGCCTCATT	0.448																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6655-6666)ccfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155340331_155340340delTTGATGAATC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6656_6665delGATTCATCAA	1.37:g.155340331_155340340delTTGATGAATC	ENSP00000357330:p.Arg2219fs					ASH1L_ENST00000392403.3_Frame_Shift_Del_p.RFIN2214fs	p.RFIN2219fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		12	7295_7304	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2219			SET.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.6656_6665delGATTCATCAA																																																																																					0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		15	203						15	203	---	---	---	---
CCR4	1233	broad.mit.edu	37	3	32995645	32995659	+	In_Frame_Del	DEL	TCTTTGCCGTGGTGG	TCTTTGCCGTGGTGG	-	rs147951720|rs147092765	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr3:32995645_32995659delTCTTTGCCGTGGTGG	ENST00000330953.5	+	2	899_913	c.731_745delTCTTTGCCGTGGTGG	c.(730-747)atctttgccgtggtggtc>atc	p.FAVVV245del		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	245					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GTGAAGATGATCTTTGCCGTGGTGGTCCTCTTCCT	0.47																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(730-747)atc>a		chemokine (C-C motif) receptor 4																																				SO:0001651	inframe_deletion	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995645_32995659delTCTTTGCCGTGGTGG	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.731_745delTCTTTGCCGTGGTGG	3.37:g.32995645_32995659delTCTTTGCCGTGGTGG	ENSP00000332659:p.Phe245_Val249del						p.IFAVVV244del	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	899_913	+			244					Q9ULY6|Q9ULY7	In_Frame_Del	DEL	ENST00000330953.5	37	c.731_745delTCTTTGCCGTGGTGG	CCDS2656.1																																																																																				0.470	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			17	23						17	23	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085901	11085903	+	RNA	DEL	CAT	CAT	-	rs28477888		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr21:11085901_11085903delCAT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccaccatcaccaccatc	0.567																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085901_11085903delCAT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085901_11085903delCAT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.567	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
