#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
FRAS1	80144	broad.mit.edu	37	4	79462267	79462267	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:79462267A>C	ENST00000264895.6	+	74	12468	c.12028A>C	c.(12028-12030)Aca>Cca	p.T4010P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	4006					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAAGATGGAACAGAAGTTTA	0.353																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(12028-12030)Aca>Cca		Fraser syndrome 1							26.0	25.0	26.0					4																	79462267		1872	4101	5973	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79462267A>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.12028A>C	4.37:g.79462267A>C	ENSP00000264895:p.Thr4010Pro						p.T4010P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			74	12468	+			4005					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.12028A>C	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.204764|4.204764	0.79127|0.79127	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.57273	.|0.41	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.054136	.|0.64402	.|D	.|0.000001	T|T	0.69913|0.69913	0.3164|0.3164	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.72343|0.72343	-0.4322|-0.4322	5|10	.|0.72032	.|D	.|0.01	.|.	16.2087|16.2087	0.82144|0.82144	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4010	.|E9PHH6	.|.	T|P	2238|4010	.|ENSP00000264895:T4010P	.|ENSP00000264895:T4010P	N|T	+|+	2|1	0|0	FRAS1|FRAS1	79681291|79681291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	9.118000|9.118000	0.94355|0.94355	2.233000|2.233000	0.73108|0.73108	0.482000|0.482000	0.46254|0.46254	AAC|ACA		0.353	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		3	64	0	0	0	1	0	3	64				
ABHD16B	140701	broad.mit.edu	37	20	62493651	62493651	+	Missense_Mutation	SNP	C	C	T	rs369503558		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr20:62493651C>T	ENST00000369916.3	+	1	1086	c.758C>T	c.(757-759)gCc>gTc	p.A253V	TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank|TPD52L2_ENST00000217121.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	253							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						GGCTTCACGGCCACCTGGGCC	0.672																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(757-759)gCc>gTc		abhydrolase domain containing 16B							37.0	28.0	31.0					20																	62493651		2201	4298	6499	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493651C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.758C>T	20.37:g.62493651C>T	ENSP00000358932:p.Ala253Val						p.A253V	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1086	+			253						Missense_Mutation	SNP	ENST00000369916.3	37	c.758C>T	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371139	0.82573	.	.	ENSG00000183260	ENST00000369916	T	0.62105	0.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.73753	2.245	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.81300	-0.0995	10	0.66056	D	0.02	-13.5425	15.8993	0.79359	0.0:1.0:0.0:0.0	.	253	Q9H3Z7	ABHGB_HUMAN	V	253	ENSP00000358932:A253V	ENSP00000358932:A253V	A	+	2	0	ABHD16B	61964095	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	4.938000	0.63519	2.353000	0.79882	0.491000	0.48974	GCC		0.672	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			6	13	0	0	0	1	0	6	13				
UGT2B7	7364	broad.mit.edu	37	4	69973922	69973922	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:69973922G>A	ENST00000305231.7	+	5	1238	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	398					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATTGTTTGCCGATCAACCTGA	0.473																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1192-1194)Gat>Aat		UDP glucuronosyltransferase 2 family, polypeptide B7							182.0	170.0	174.0					4																	69973922		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973922G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1192G>A	4.37:g.69973922G>A	ENSP00000304811:p.Asp398Asn					UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	p.D398N	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			5	1238	+			398					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1192G>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927935	0.52759	.	.	ENSG00000171234	ENST00000502942;ENST00000305231	T;T	0.80123	-0.42;-1.34	2.72	2.72	0.32119	.	0.070456	0.53938	U	0.000047	D	0.84502	0.5486	H	0.98594	4.275	0.80722	D	1	P	0.48694	0.914	B	0.34038	0.174	D	0.88924	0.3368	9	.	.	.	.	11.1821	0.48633	0.0:0.0:1.0:0.0	.	398	P16662	UD2B7_HUMAN	N	149;398	ENSP00000426206:D149N;ENSP00000304811:D398N	.	D	+	1	0	UGT2B7	70008511	1.000000	0.71417	0.559000	0.28332	0.028000	0.11728	8.551000	0.90678	1.516000	0.48900	0.491000	0.48974	GAT		0.473	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		13	145	0	0	0	1	0	13	145				
GPR98	84059	broad.mit.edu	37	5	89989828	89989828	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:89989828C>G	ENST00000405460.2	+	33	7351	c.7255C>G	c.(7255-7257)Cct>Gct	p.P2419A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2419					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAGGGGTGCCTGACCCACT	0.488																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7255-7257)Cct>Gct		G protein-coupled receptor 98							81.0	78.0	79.0					5																	89989828		1916	4121	6037	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989828C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7255C>G	5.37:g.89989828C>G	ENSP00000384582:p.Pro2419Ala						p.P2419A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7351	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2419					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7255C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494501	0.44352	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27104	1.69	5.97	5.97	0.96955	.	0.045090	0.85682	D	0.000000	T	0.53045	0.1772	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.45702	-0.9243	10	0.54805	T	0.06	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	2419;2419	E7ETI5;Q8WXG9	.;GPR98_HUMAN	A	2419	ENSP00000384582:P2419A	ENSP00000296619:P2419A	P	+	1	0	GPR98	90025584	0.992000	0.36948	0.996000	0.52242	0.030000	0.12068	3.138000	0.50570	2.835000	0.97688	0.591000	0.81541	CCT		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	16	0	0	0	1	0	15	16				
ALDH1B1	219	broad.mit.edu	37	9	38396184	38396184	+	Silent	SNP	C	C	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:38396184C>A	ENST00000377698.3	+	2	592	c.439C>A	c.(439-441)Cgg>Agg	p.R147R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	147					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CAAGGTGTATCGGTACTTTGC	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(439-441)Cgg>Agg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						116.0	117.0	117.0					9																	38396184		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396184C>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.439C>A	9.37:g.38396184C>A							p.R147R	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	592	+			147					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.439C>A	CCDS6615.1																																																																																				0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			4	126	1	0	0.150653	1	0.150653	4	126				
USP37	57695	broad.mit.edu	37	2	219418378	219418378	+	Silent	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:219418378G>A	ENST00000258399.3	-	5	638	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	USP37_ENST00000418019.1_Silent_p.L76L|USP37_ENST00000415516.1_Silent_p.L4L|USP37_ENST00000454775.1_Silent_p.L76L|USP37_ENST00000338465.5_Silent_p.L76L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	76					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTATCTTGCAGAGTTAACATT	0.393																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(226-228)Ctg>Ttg		ubiquitin specific peptidase 37							136.0	126.0	129.0					2																	219418378		2203	4300	6503	SO:0001819	synonymous_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219418378G>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.226C>T	2.37:g.219418378G>A						USP37_ENST00000338465.5_Silent_p.L76L|USP37_ENST00000418019.1_Silent_p.L76L|USP37_ENST00000454775.1_Silent_p.L76L|USP37_ENST00000415516.1_Silent_p.L4L	p.L76L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	5	638	-		Renal(207;0.0915)	76					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	c.226C>T	CCDS2418.1																																																																																				0.393	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		4	56	0	0	0	1	0	4	56				
ZBTB14	7541	broad.mit.edu	37	18	5291231	5291231	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:5291231T>G	ENST00000357006.4	-	4	1314	c.976A>C	c.(976-978)Atc>Ctc	p.I326L	ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	326					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CCTGTGTGGATTTTTAGGTGT	0.453																																						ENST00000357006.4																			0											c.(976-978)Atc>Ctc		zinc finger and BTB domain containing 14							148.0	145.0	146.0					18																	5291231		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291231T>G	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.976A>C	18.37:g.5291231T>G	ENSP00000349503:p.Ile326Leu					ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L	p.I326L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1314	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.976A>C	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531417	0.45073	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.07327	3.2;3.2	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.06050	0.0157	N	0.10809	0.05	0.80722	D	1	B	0.32467	0.372	B	0.29176	0.099	T	0.41980	-0.9478	10	0.59425	D	0.04	-13.482	16.143	0.81539	0.0:0.0:0.0:1.0	.	326	O43829	ZF161_HUMAN	L	326	ENSP00000349503:I326L;ENSP00000383009:I326L	ENSP00000349503:I326L	I	-	1	0	ZFP161	5281231	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.233000	0.72320	2.206000	0.71126	0.528000	0.53228	ATC		0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		27	55	0	0	0	1	0	27	55				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			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.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	94	0	0	0	1	0	5	94				
COQ9	57017	broad.mit.edu	37	16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592																																						ENST00000262507.6																			2	Substitution - Missense(2)	p.P112S(2)	lung(1)|prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(334-336)Ccc>Tcc		coenzyme Q9							107.0	93.0	98.0					16																	57486804		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486804C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.334C>T	16.37:g.57486804C>T	ENSP00000262507:p.Pro112Ser					COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	403	+			112					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.334C>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697474	0.88830	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.69185	2.1	0.58432	D	0.999995	D;P;D;P;D	0.89917	1.0;0.811;1.0;0.816;1.0	D;P;D;B;D	0.97110	0.999;0.554;0.999;0.288;1.0	T	0.79902	-0.1607	9	0.59425	D	0.04	-10.8459	17.3209	0.87235	0.0:1.0:0.0:0.0	.	112;112;112;112;112	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	112	.	ENSP00000262507:P112S	P	+	1	0	COQ9	56044305	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.783000	0.85696	2.325000	0.78763	0.650000	0.86243	CCC		0.592	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		4	111	0	0	0	1	0	4	111				
RAP2C	57826	broad.mit.edu	37	X	131351120	131351120	+	Silent	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:131351120T>C	ENST00000342983.2	-	2	923	c.177A>G	c.(175-177)gcA>gcG	p.A59A	RAP2C_ENST00000370874.1_Silent_p.A59A|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	59					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTCCTGCGGTGTCCA	0.458																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(175-177)gcA>gcG		RAP2C, member of RAS oncogene family							113.0	108.0	110.0					X																	131351120		2203	4300	6503	SO:0001819	synonymous_variant	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351120T>C	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.177A>G	X.37:g.131351120T>C						RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Silent_p.A59A	p.A59A	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	923	-	Acute lymphoblastic leukemia(192;0.000127)		59					B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	ENST00000342983.2	37	c.177A>G	CCDS14632.1																																																																																				0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		6	136	0	0	0	1	0	6	136				
NOL4	8715	broad.mit.edu	37	18	31709985	31709985	+	Splice_Site	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:31709985C>T	ENST00000261592.5	-	2	562		c.e2-1		NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTACGCCATCCTGGAAACAAA	0.343																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e2-1		nucleolar protein 4							50.0	47.0	48.0					18																	31709985		2202	4299	6501	SO:0001630	splice_region_variant	8715					nucleolus	RNA binding	g.chr18:31709985C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.265-1G>A	18.37:g.31709985C>T						NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site|NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site		NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			2	562	-								B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Splice_Site	SNP	ENST00000261592.5	37		CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419912	0.83559	.	.	ENSG00000101746	ENST00000261592;ENST00000538587	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.866	0.92292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOL4	29963983	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.772000	0.75001	2.710000	0.92621	0.585000	0.79938	.		0.343	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787	Intron	4	39	0	0	0	1	0	4	39				
COTL1	23406	broad.mit.edu	37	16	84623755	84623755	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:84623755C>T	ENST00000262428.4	-	3	436	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	COTL1_ENST00000564057.1_Missense_Mutation_p.A23T	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	92	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)	p.A92T(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CCGGTTTTGGCGCGCTGCAGC	0.597																																						ENST00000262428.4																			1	Substitution - Missense(1)	p.A92T(1)	lung(1)	endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(274-276)Gcc>Acc		coactosin-like 1 (Dictyostelium)							101.0	76.0	84.0					16																	84623755		2199	4300	6499	SO:0001583	missense	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84623755C>T	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.274G>A	16.37:g.84623755C>T	ENSP00000262428:p.Ala92Thr					COTL1_ENST00000564057.1_Missense_Mutation_p.A23T	p.A92T	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			3	436	-			92			ADF-H.		B2RDU3|D3DUL9|Q86XM5	Missense_Mutation	SNP	ENST00000262428.4	37	c.274G>A	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711196	0.96821	.	.	ENSG00000103187	ENST00000262428	T	0.37752	1.18	5.34	5.34	0.76211	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64935	-0.6290	10	0.87932	D	0	.	18.0463	0.89334	0.0:1.0:0.0:0.0	.	92	Q14019	COTL1_HUMAN	T	92	ENSP00000262428:A92T	ENSP00000262428:A92T	A	-	1	0	COTL1	83181256	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.300000	0.78841	2.494000	0.84150	0.561000	0.74099	GCC		0.597	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		4	60	0	0	0	1	0	4	60				
NRROS	375387	broad.mit.edu	37	3	196388024	196388024	+	Missense_Mutation	SNP	G	G	A	rs139647726		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:196388024G>A	ENST00000328557.4	+	3	1713	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	504					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGGAGCCTCGCCCCACTCCA	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		17557	0.0		0.001	False		,,,				2504	0.0					ENST00000328557.4																			0											c.(1510-1512)Gcc>Acc		negative regulator of reactive oxygen species		A	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	84.0	82.0	83.0		1510	-6.6	0.0	3	dbSNP_134	83	0,8600		0,0,4300	no	missense	LRRC33	NM_198565.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	504/693	196388024	1,13005	2203	4300	6503	SO:0001583	missense	375387							g.chr3:196388024G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1510G>A	3.37:g.196388024G>A	ENSP00000328625:p.Ala504Thr						p.A504T	NM_198565.1	NP_940967.1					3	1713	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1510G>A	CCDS3319.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.008	-1.866335	0.00547	2.27E-4	0.0	ENSG00000174004	ENST00000328557	T	0.52295	0.67	5.97	-6.58	0.01836	.	1.222070	0.05601	N	0.576385	T	0.29028	0.0721	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30707	-0.9969	10	0.09843	T	0.71	.	8.578	0.33609	0.5572:0.0:0.2957:0.1471	.	504	Q86YC3	LRC33_HUMAN	T	504	ENSP00000328625:A504T	ENSP00000328625:A504T	A	+	1	0	LRRC33	197872421	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.462000	0.02364	-0.685000	0.05177	-0.726000	0.03593	GCC		0.587	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		32	51	0	0	0	1	0	32	51				
DOCK10	55619	broad.mit.edu	37	2	225740826	225740826	+	Missense_Mutation	SNP	C	C	T	rs377274433		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:225740826C>T	ENST00000258390.7	-	8	927	c.860G>A	c.(859-861)cGc>cAc	p.R287H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R281H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	287	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R287H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGCAGAATGCGGTTGAGGGT	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18599	0.0		0.0	False		,,,				2504	0.0					ENST00000409592.3																			1	Substitution - Missense(1)	p.R287H(1)	endometrium(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(841-843)cGc>cAc		dedicator of cytokinesis 10		C	HIS/ARG	0,3808		0,0,1904	95.0	94.0	94.0		860	4.8	1.0	2		94	1,8271		0,1,4135	no	missense	DOCK10	NM_014689.2	29	0,1,6039	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	287/2187	225740826	1,12079	1904	4136	6040	SO:0001583	missense	55619						GTP binding	g.chr2:225740826C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.860G>A	2.37:g.225740826C>T	ENSP00000258390:p.Arg287His					DOCK10_ENST00000258390.7_Missense_Mutation_p.R287H	p.R281H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	8	955	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	287			PH.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.842G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518875	0.85495	0.0	1.21E-4	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.76060	-0.99;-0.99	5.76	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.124363	0.53938	D	0.000056	T	0.75729	0.3889	L	0.45581	1.43	0.32883	D	0.510848	D;D;D	0.63046	0.991;0.992;0.985	P;P;P	0.62298	0.9;0.895;0.9	T	0.80061	-0.1540	10	0.66056	D	0.02	.	3.7992	0.08751	0.0:0.668:0.0:0.332	.	287;287;281	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	H	281;287	ENSP00000386694:R281H;ENSP00000258390:R287H	ENSP00000258390:R287H	R	-	2	0	DOCK10	225449070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.298000	0.59067	2.721000	0.93114	0.655000	0.94253	CGC		0.488	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	37	0	0	0	1	0	3	37				
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	rs200600060		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.A659V(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1975-1977)gCg>gTg		solute carrier family 7, member 14		G	VAL/ALA	0,4406		0,0,2203	101.0	107.0	105.0		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.A659V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2291	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		4	134	0	0	0	1	0	4	134				
CLEC6A	93978	broad.mit.edu	37	12	8612205	8612205	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612205T>G	ENST00000382073.3	+	3	320	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	45					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACTTACCATTTTACATATGGT	0.393																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(133-135)tTt>tGt		C-type lectin domain family 6, member A							163.0	162.0	162.0					12																	8612205		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8612205T>G	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.134T>G	12.37:g.8612205T>G	ENSP00000371505:p.Phe45Cys						p.F45C	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			3	320	+	Lung SC(5;0.184)		45					A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.134T>G	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.780421	0.31502	.	.	ENSG00000205846	ENST00000382073	T	0.17854	2.25	3.38	2.24	0.28232	.	.	.	.	.	T	0.20129	0.0484	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.13150	-1.0520	9	0.72032	D	0.01	.	5.196	0.15239	0.0:0.1343:0.0:0.8657	.	45	Q6EIG7	CLC6A_HUMAN	C	45	ENSP00000371505:F45C	ENSP00000371505:F45C	F	+	2	0	CLEC6A	8503472	0.042000	0.20092	0.003000	0.11579	0.035000	0.12851	2.174000	0.42482	0.679000	0.31345	0.528000	0.53228	TTT		0.393	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		13	135	0	0	0	1	0	13	135				
CELSR2	1952	broad.mit.edu	37	1	109810235	109810235	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:109810235T>C	ENST00000271332.3	+	16	6140	c.6079T>C	c.(6079-6081)Tcc>Ccc	p.S2027P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2027					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACTGCACGTCCATCACCTT	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(6079-6081)Tcc>Ccc		cadherin, EGF LAG seven-pass G-type receptor 2							111.0	110.0	110.0					1																	109810235		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109810235T>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6079T>C	1.37:g.109810235T>C	ENSP00000271332:p.Ser2027Pro						p.S2027P	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	16	6140	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2027					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6079T>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626263	0.66901	.	.	ENSG00000143126	ENST00000271332	T	0.72835	-0.69	4.6	4.6	0.57074	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	T	0.77405	0.4125	M	0.84683	2.71	0.52099	D	0.999943	D	0.71674	0.998	D	0.64410	0.925	T	0.81382	-0.0958	9	0.87932	D	0	.	6.9851	0.24723	0.1466:0.0:0.1526:0.7008	.	2027	Q9HCU4	CELR2_HUMAN	P	2027	ENSP00000271332:S2027P	ENSP00000271332:S2027P	S	+	1	0	CELSR2	109611758	0.983000	0.35010	0.285000	0.24819	0.872000	0.50106	2.083000	0.41615	1.933000	0.56026	0.402000	0.26972	TCC		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		24	55	0	0	0	1	0	24	55				
HIRA	7290	broad.mit.edu	37	22	19381985	19381985	+	Silent	SNP	C	C	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr22:19381985C>A	ENST00000263208.5	-	8	958	c.702G>T	c.(700-702)ggG>ggT	p.G234G	HIRA_ENST00000546308.1_Silent_p.G190G|HIRA_ENST00000340170.4_Silent_p.G234G|HIRA_ENST00000541063.1_Silent_p.G190G	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	234					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCAGGTAATGCCCATCAGGTG	0.547																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(700-702)ggG>ggT		histone cell cycle regulator							148.0	106.0	120.0					22																	19381985		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19381985C>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.702G>T	22.37:g.19381985C>A						HIRA_ENST00000541063.1_Silent_p.G190G|HIRA_ENST00000340170.4_Silent_p.G234G|HIRA_ENST00000546308.1_Silent_p.G190G	p.G234G	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			8	958	-	Colorectal(54;0.0993)		234					Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.702G>T	CCDS13759.1																																																																																				0.547	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		7	59	1	0	0.0381472	1	0.039321	7	59				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	83	0	0	0	1	0	4	83				
MECOM	2122	broad.mit.edu	37	3	168833702	168833702	+	Missense_Mutation	SNP	G	G	A	rs375314275		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:168833702G>A	ENST00000464456.1	-	7	2594	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	MECOM_ENST00000433243.2_Missense_Mutation_p.A466V|MECOM_ENST00000264674.3_Missense_Mutation_p.A530V|MECOM_ENST00000468789.1_Missense_Mutation_p.A465V|MECOM_ENST00000460814.1_Missense_Mutation_p.A465V|MECOM_ENST00000392736.3_Missense_Mutation_p.A465V|MECOM_ENST00000494292.1_Missense_Mutation_p.A653V|MECOM_ENST00000472280.1_Missense_Mutation_p.A466V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGACACCGCAGTCTGCTC	0.388																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1393-1395)gCg>gTg		MDS1 and EVI1 complex locus		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	284.0	257.0	266.0		1589,1394,1397,1394,1394,1958,1394	5.8	1.0	3		266	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	530/1117,465/1052,466/1044,465/1043,465/1052,653/1240,465/1052	168833702	1,13005	2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833702G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1394C>T	3.37:g.168833702G>A	ENSP00000419770:p.Ala465Val					MECOM_ENST00000468789.1_Missense_Mutation_p.A465V|MECOM_ENST00000472280.1_Missense_Mutation_p.A466V|MECOM_ENST00000264674.3_Missense_Mutation_p.A530V|MECOM_ENST00000460814.1_Missense_Mutation_p.A465V|MECOM_ENST00000433243.2_Missense_Mutation_p.A466V|MECOM_ENST00000392736.3_Missense_Mutation_p.A465V|MECOM_ENST00000494292.1_Missense_Mutation_p.A653V	p.A465V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2594	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1394C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755792	0.69648	0.0	1.16E-4	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06449	3.35;3.34;3.3;3.44;3.31;3.34;3.3;3.44	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	T	0.21962	0.0529	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.971;0.997;0.994	T	0.00731	-1.1590	10	0.22706	T	0.39	-8.7518	20.1162	0.97934	0.0:0.0:1.0:0.0	.	653;466;653;530;465	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	V	530;465;465;466;653;465;465;466	ENSP00000264674:A530V;ENSP00000376493:A465V;ENSP00000419770:A465V;ENSP00000420048:A466V;ENSP00000417899:A653V;ENSP00000419995:A465V;ENSP00000420466:A465V;ENSP00000394302:A466V	ENSP00000264674:A530V	A	-	2	0	MECOM	170316396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.004000	0.88535	2.756000	0.94617	0.655000	0.94253	GCG		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		4	103	0	0	0	1	0	4	103				
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7578206T>C	ENST00000269305.4	-	6	832	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000420246.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCACCACACTATGTCGAAAA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		43	Substitution - Missense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)	ovary(6)|biliary_tract(5)|bone(5)|stomach(4)|oesophagus(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|urinary_tract(1)|liver(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(643-645)Agt>Ggt	Other conserved DNA damage response genes	tumor protein p53							125.0	112.0	116.0					17																	7578206		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578206T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.643A>G	17.37:g.7578206T>C	ENSP00000269305:p.Ser215Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G	p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	215		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.643A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274381	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.28	4.18	0.49190	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90705	3.14	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;0.98;0.996;1.0;1.0;0.999	D	0.97163	0.9839	10	0.87932	D	0	-18.3023	10.6958	0.45899	0.0:0.0:0.1605:0.8394	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215G;ENSP00000352610:S215G;ENSP00000269305:S215G;ENSP00000398846:S215G;ENSP00000391127:S215G;ENSP00000391478:S215G;ENSP00000425104:S83G;ENSP00000423862:S122G	ENSP00000269305:S215G	S	-	1	0	TP53	7518931	1.000000	0.71417	0.471000	0.27229	0.962000	0.63368	6.146000	0.71777	0.919000	0.36945	0.460000	0.39030	AGT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	36	0	0	0	1	0	18	36				
THRAP3	9967	broad.mit.edu	37	1	36752690	36752690	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36752690C>G	ENST00000354618.5	+	4	1083	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	287	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCTCAACTCTGCCGAGTGG	0.602			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(859-861)Ctg>Gtg		thyroid hormone receptor associated protein 3							75.0	76.0	76.0					1																	36752690		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752690C>G	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.859C>G	1.37:g.36752690C>G	ENSP00000346634:p.Leu287Val					THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	1083	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	287			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.859C>G	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	1.319	-0.600134	0.03744	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13196	2.61;2.61	5.85	2.89	0.33648	.	0.501528	0.17975	N	0.155726	T	0.08935	0.0221	L	0.44542	1.39	0.21445	N	0.999684	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.11182	T	0.66	0.1294	3.0006	0.06012	0.2593:0.4832:0.1192:0.1383	.	287	Q9Y2W1	TR150_HUMAN	V	287	ENSP00000346634:L287V;ENSP00000433825:L287V	ENSP00000346634:L287V	L	+	1	2	THRAP3	36525277	0.001000	0.12720	0.879000	0.34478	0.223000	0.24884	0.039000	0.13884	0.336000	0.23639	-0.176000	0.13171	CTG		0.602	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		29	55	0	0	0	1	0	29	55				
GMPPA	29926	broad.mit.edu	37	2	220371481	220371481	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:220371481G>C	ENST00000358215.3	+	13	1593	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N|GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	408					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGCCACACAAGGAGCTGAGCC	0.617																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1222-1224)aaG>aaC		GDP-mannose pyrophosphorylase A							103.0	82.0	89.0					2																	220371481		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371481G>C	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1224G>C	2.37:g.220371481G>C	ENSP00000350949:p.Lys408Asn					GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N	p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	13	1593	+		Renal(207;0.0183)	408					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1224G>C	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017171	0.75161	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.45276	0.9;0.95;0.9;0.9;0.9	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74711	-0.3573	10	0.87932	D	0	-11.5543	10.0768	0.42366	0.0958:0.0:0.9042:0.0	.	461;408	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	N	408;461;408;408;408	ENSP00000315925:K408N;ENSP00000363027:K461N;ENSP00000350949:K408N;ENSP00000363016:K408N;ENSP00000340760:K408N	ENSP00000315925:K408N	K	+	3	2	GMPPA	220079725	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.934000	0.70138	1.977000	0.57605	0.467000	0.42956	AAG		0.617	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		14	27	0	0	0	1	0	14	27				
CLEC6A	93978	broad.mit.edu	37	12	8612215	8612215	+	Silent	SNP	T	T	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612215T>G	ENST00000382073.3	+	3	330	c.144T>G	c.(142-144)ggT>ggG	p.G48G		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	48					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTACATATGGTGAAACTGGCA	0.378																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(142-144)ggT>ggG		C-type lectin domain family 6, member A							164.0	164.0	164.0					12																	8612215		2203	4300	6503	SO:0001819	synonymous_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8612215T>G	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.144T>G	12.37:g.8612215T>G							p.G48G	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			3	330	+	Lung SC(5;0.184)		48					A2RUK3	Silent	SNP	ENST00000382073.3	37	c.144T>G	CCDS31739.1																																																																																				0.378	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		13	134	0	0	0	1	0	13	134				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	54	0	0	0	1	0	23	54				
FTH1P3	2498	broad.mit.edu	37	5	17354246	17354246	+	lincRNA	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:17354246G>A	ENST00000511821.1	+	0	105				FTH1P10_ENST00000401830.3_RNA																							CATTCAGCCCGCTCTCCCAGT	0.473																																						ENST00000511821.1																			0																																																			0							g.chr5:17354246G>A																													5.37:g.17354246G>A						FTH1P10_ENST00000401830.3_RNA								0	105	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.473	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			9	142	0	0	0	1	0	9	142				
ATP7A	538	broad.mit.edu	37	X	77301960	77301960	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:77301960T>C	ENST00000341514.6	+	23	4551	c.4396T>C	c.(4396-4398)Tca>Cca	p.S1466P	ATP7A_ENST00000350425.4_Missense_Mutation_p.S469P|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1388P	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1466					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTCTATAAACTCACTACTGTC	0.443																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4396-4398)Tca>Cca		ATPase, Cu++ transporting, alpha polypeptide							190.0	189.0	190.0					X																	77301960		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301960T>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4396T>C	X.37:g.77301960T>C	ENSP00000345728:p.Ser1466Pro					ATP7A_ENST00000350425.4_Missense_Mutation_p.S469P|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1388P	p.S1466P	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			23	4551	+			1466					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4396T>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690545	0.68271	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.76060	-0.99;-0.99;-0.99	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	L	0.43152	1.355	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.81422	-0.0940	10	0.49607	T	0.09	-7.8071	13.8073	0.63240	0.0:0.0:0.0:1.0	.	1466	Q04656	ATP7A_HUMAN	P	1388;469;1466	ENSP00000343026:S1388P;ENSP00000343678:S469P;ENSP00000345728:S1466P	ENSP00000345728:S1466P	S	+	1	0	ATP7A	77188616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.827000	0.69300	1.634000	0.50500	0.356000	0.21956	TCA		0.443	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		23	271	0	0	0	1	0	23	271				
ITGAE	3682	broad.mit.edu	37	17	3661079	3661079	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:3661079C>T	ENST00000263087.4	-	9	1039	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	314	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCGAATATGCCACCATCGGT	0.547																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(940-942)gGc>gAc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							232.0	213.0	220.0					17																	3661079		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661079C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.941G>A	17.37:g.3661079C>T	ENSP00000263087:p.Gly314Asp						p.G314D	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1039	-			314			VWFA.		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.941G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	2.997	-0.206984	0.06180	.	.	ENSG00000083457	ENST00000263087	D	0.82711	-1.64	5.56	4.49	0.54785	von Willebrand factor, type A (3);	.	.	.	.	T	0.47728	0.1461	N	0.00101	-2.135	0.27436	N	0.953858	B	0.06786	0.001	B	0.04013	0.001	T	0.45600	-0.9250	9	0.15499	T	0.54	.	9.5862	0.39517	0.0:0.0843:0.0:0.9157	.	314	P38570	ITAE_HUMAN	D	314	ENSP00000263087:G314D	ENSP00000263087:G314D	G	-	2	0	ITGAE	3607828	1.000000	0.71417	0.991000	0.47740	0.728000	0.41692	3.752000	0.55172	1.065000	0.40693	-0.492000	0.04666	GGC		0.547	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		5	286	0	0	0	1	0	5	286				
RNGTT	8732	broad.mit.edu	37	6	89638748	89638748	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:89638748C>T	ENST00000369485.4	-	4	509	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RNGTT_ENST00000369475.3_Missense_Mutation_p.R108H|RNGTT_ENST00000265607.6_Missense_Mutation_p.R108H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R48H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	108	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.R108H(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTCACACAGACGAATAAAGGT	0.343																																						ENST00000369485.4																			1	Substitution - Missense(1)	p.R108H(1)	large_intestine(1)	endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(322-324)cGt>cAt		RNA guanylyltransferase and 5'-phosphatase							108.0	110.0	110.0					6																	89638748		2203	4300	6503	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89638748C>T	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.323G>A	6.37:g.89638748C>T	ENSP00000358497:p.Arg108His					RNGTT_ENST00000369475.3_Missense_Mutation_p.R108H|RNGTT_ENST00000265607.6_Missense_Mutation_p.R108H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R48H	p.R108H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	4	509	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	108			TPase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.323G>A	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386717	0.61956	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.82	5.82	0.92795	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.043067	0.85682	D	0.000000	T	0.69993	0.3173	N	0.20986	0.625	0.80722	D	1	B;B;B;B	0.21381	0.044;0.055;0.044;0.055	B;B;B;B	0.16289	0.007;0.015;0.008;0.015	T	0.64879	-0.6303	10	0.33141	T	0.24	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	48;108;108;108	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	H	108;108;48;79;108	ENSP00000358497:R108H;ENSP00000265607:R108H;ENSP00000442609:R48H;ENSP00000358487:R108H	ENSP00000265607:R108H	R	-	2	0	RNGTT	89695467	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.415000	0.59809	2.762000	0.94881	0.561000	0.74099	CGT		0.343	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			7	63	0	0	0	1	0	7	63				
NOTCH1	4851	broad.mit.edu	37	9	139404380	139404380	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:139404380C>T	ENST00000277541.6	-	18	2849	c.2774G>A	c.(2773-2775)gGc>gAc	p.G925D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	925	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGTTGATGCCGTCTGTGCA	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2773-2775)gGc>gAc		notch 1							62.0	74.0	70.0					9																	139404380		2044	4171	6215	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404380C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2774G>A	9.37:g.139404380C>T	ENSP00000277541:p.Gly925Asp	HNSCC(8;0.001)					p.G925D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2849	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	925			EGF-like 24.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2774G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994298	0.54041	.	.	ENSG00000148400	ENST00000277541	D	0.87412	-2.25	4.88	4.88	0.63580	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.174319	0.50627	D	0.000112	D	0.90473	0.7016	M	0.69248	2.105	0.58432	D	0.999995	P	0.49559	0.925	P	0.59012	0.85	D	0.87687	0.2551	10	0.11485	T	0.65	.	16.5962	0.84797	0.0:1.0:0.0:0.0	.	925	P46531	NOTC1_HUMAN	D	925	ENSP00000277541:G925D	ENSP00000277541:G925D	G	-	2	0	NOTCH1	138524201	0.814000	0.29104	0.044000	0.18714	0.295000	0.27426	3.642000	0.54367	2.235000	0.73313	0.655000	0.94253	GGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	93	0	0	0	1	0	4	93				
CROCCP2	84809	broad.mit.edu	37	1	16945760	16945760	+	lincRNA	SNP	A	A	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:16945760A>G	ENST00000412962.1	-	0	1759				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AAAAGGGCACAACGGCAGTCA	0.562																																						ENST00000412962.1																			0																																																			0							g.chr1:16945760A>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945760A>G														0	1759	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.562	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	43	0	0	0	1	0	4	43				
FGA	2243	broad.mit.edu	37	4	155505941	155505941	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:155505941C>A	ENST00000302053.3	-	6	2014	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGAAAATGCCACTTTGGGTA	0.373																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1936-1938)Ggc>Tgc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						46.0	47.0	46.0					4																	155505941		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505941C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1936G>T	4.37:g.155505941C>A	ENSP00000306361:p.Gly646Cys						p.G646C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2014	-	all_hematologic(180;0.215)	Renal(120;0.0458)	646			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1936G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140787	0.77775	.	.	ENSG00000171560	ENST00000302053	D	0.99051	-5.37	5.46	5.46	0.80206	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.99582	0.9849	H	0.98238	4.18	0.80722	D	1	D	0.56287	0.975	D	0.63283	0.913	D	0.97782	1.0233	10	0.87932	D	0	.	19.3153	0.94211	0.0:1.0:0.0:0.0	.	646	P02671	FIBA_HUMAN	C	646	ENSP00000306361:G646C	ENSP00000306361:G646C	G	-	1	0	FGA	155725391	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.456000	0.80751	2.555000	0.86185	0.650000	0.86243	GGC		0.373	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		13	63	1	0	4.3838e-07	1	4.66214e-07	13	63				
PKNOX2	63876	broad.mit.edu	37	11	125299879	125299879	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:125299879G>A	ENST00000298282.9	+	12	1305	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R281H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	345					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GCCCGGAGGCGCATCCTGCAG	0.597																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1033-1035)cGc>cAc		PBX/knotted 1 homeobox 2							111.0	121.0	117.0					11																	125299879		2047	4197	6244	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125299879G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1034G>A	11.37:g.125299879G>A	ENSP00000298282:p.Arg345His					PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.R281H	p.R345H	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1305	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	345					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1034G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362586	0.95877	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.11	5.11	0.69529	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.049509	0.85682	D	0.000000	D	0.99569	0.9845	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.992	D;D;P	0.91635	0.999;0.91;0.735	D	0.97642	1.0149	10	0.87932	D	0	-12.3654	18.9051	0.92456	0.0:0.0:1.0:0.0	.	281;316;345	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	H	316;316;345;281	ENSP00000434732:R316H;ENSP00000433971:R316H;ENSP00000298282:R345H;ENSP00000441470:R281H	ENSP00000298282:R345H	R	+	2	0	PKNOX2	124805089	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.809000	0.99208	2.543000	0.85770	0.655000	0.94253	CGC		0.597	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			4	172	0	0	0	1	0	4	172				
RNF17	56163	broad.mit.edu	37	13	25399793	25399793	+	Missense_Mutation	SNP	A	A	G	rs368259164		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:25399793A>G	ENST00000255324.5	+	16	2180	c.2128A>G	c.(2128-2130)Atc>Gtc	p.I710V	RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	710					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTAAAGACAATCGAGGAATT	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		16546	0.0		0.0	False		,,,				2504	0.001					ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2128-2130)Atc>Gtc		ring finger protein 17		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	68.0	73.0	71.0		2128,2128	3.5	0.8	13		71	0,8600		0,0,4300	no	missense,missense	RNF17	NM_001184993.1,NM_031277.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	710/1620,710/1624	25399793	1,13005	2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25399793A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2128A>G	13.37:g.25399793A>G	ENSP00000255324:p.Ile710Val					RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	16	2180	+		Lung SC(185;0.0225)|Breast(139;0.077)	710					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2128A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	3.973	-0.007919	0.07773	2.27E-4	0.0	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.13420	2.59;2.59;2.59	4.69	3.51	0.40186	Maternal tudor protein (1);	0.394595	0.25944	N	0.027298	T	0.12732	0.0309	L	0.60455	1.87	0.80722	D	1	B;B	0.19200	0.012;0.034	B;B	0.16289	0.011;0.015	T	0.07635	-1.0762	10	0.42905	T	0.14	.	5.055	0.14527	0.7188:0.1838:0.0973:0.0	.	710;710	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	V	710;710;569;34	ENSP00000255324:I710V;ENSP00000371346:I710V;ENSP00000388892:I34V	ENSP00000255324:I710V	I	+	1	0	RNF17	24297793	1.000000	0.71417	0.756000	0.31282	0.064000	0.16182	1.560000	0.36331	0.757000	0.33036	0.402000	0.26972	ATC		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		21	49	0	0	0	1	0	21	49				
SMAD9	4093	broad.mit.edu	37	13	37439796	37439796	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:37439796C>T	ENST00000399275.2	-	4	1020	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SMAD9_ENST00000350148.5_Missense_Mutation_p.R257Q|SMAD9_ENST00000379826.4_Missense_Mutation_p.R294Q			O15198	SMAD9_HUMAN	SMAD family member 9	294	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCACACTTCGGGAGGAAGC	0.473																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(880-882)cGa>cAa		SMAD family member 9							94.0	93.0	93.0					13																	37439796		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37439796C>T		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.881G>A	13.37:g.37439796C>T	ENSP00000382216:p.Arg294Gln					SMAD9_ENST00000350148.5_Missense_Mutation_p.R257Q|SMAD9_ENST00000399275.2_Missense_Mutation_p.R294Q	p.R294Q	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	5	1223	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	294			MH2.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.881G>A	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053403	0.55218	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.97232	-4.19;-4.3;-4.19	5.23	3.48	0.39840	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.055122	0.85682	D	0.000000	D	0.90841	0.7123	N	0.05280	-0.08	0.52501	D	0.999959	B;B	0.19583	0.003;0.037	B;B	0.20184	0.007;0.028	D	0.85624	0.1266	10	0.54805	T	0.06	.	10.2751	0.43506	0.0:0.7898:0.136:0.0742	.	257;294	O15198-2;O15198	.;SMAD9_HUMAN	Q	294;257;294	ENSP00000382216:R294Q;ENSP00000239885:R257Q;ENSP00000369154:R294Q	ENSP00000239885:R257Q	R	-	2	0	SMAD9	36337796	0.976000	0.34144	0.684000	0.30055	0.969000	0.65631	3.207000	0.51106	0.699000	0.31761	0.655000	0.94253	CGA		0.473	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		8	70	0	0	0	1	0	8	70				
OR52E4	390081	broad.mit.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:5906021C>T	ENST00000316987.2	+	1	521	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453																																						ENST00000316987.2																			1	Substitution - Missense(1)	p.R167G(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(499-501)Cgt>Tgt		olfactory receptor, family 52, subfamily E, member 4							154.0	140.0	145.0					11																	5906021		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906021C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.499C>T	11.37:g.5906021C>T	ENSP00000321426:p.Arg167Cys						p.R167C	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	521	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	167					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.499C>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661888	0.47572	.	.	ENSG00000180974	ENST00000316987	T	0.00188	8.59	5.15	0.874	0.19124	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000210	T	0.00468	0.0015	M	0.86953	2.85	0.09310	N	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.44817	-0.9303	10	0.87932	D	0	.	5.7145	0.17952	0.4898:0.3415:0.0:0.1687	.	167	Q8NGH9	O52E4_HUMAN	C	167	ENSP00000321426:R167C	ENSP00000321426:R167C	R	+	1	0	OR52E4	5862597	0.000000	0.05858	0.016000	0.15963	0.913000	0.54294	-0.034000	0.12225	-0.017000	0.14103	0.643000	0.83706	CGT		0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		47	85	0	0	0	1	0	47	85				
PPP1R10	5514	broad.mit.edu	37	6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:30570090C>T	ENST00000376511.2	-	19	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	779	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2335-2337)aGt>aAt		protein phosphatase 1, regulatory subunit 10							160.0	171.0	167.0					6																	30570090		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570090C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2336G>A	6.37:g.30570090C>T	ENSP00000365694:p.Ser779Asn						p.S779N	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2888	-			779			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2336G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109160	0.20714	.	.	ENSG00000204569	ENST00000376511	T	0.56941	0.43	2.09	2.09	0.27110	.	0.273852	0.26635	N	0.023293	T	0.13756	0.0333	N	0.08118	0	0.25064	N	0.991047	B	0.20261	0.043	B	0.14023	0.01	T	0.23190	-1.0195	10	0.32370	T	0.25	-0.2633	11.9186	0.52779	0.0:1.0:0.0:0.0	.	779	Q96QC0	PP1RA_HUMAN	N	779	ENSP00000365694:S779N	ENSP00000365694:S779N	S	-	2	0	PPP1R10	30678069	0.020000	0.18652	0.981000	0.43875	0.939000	0.58152	1.434000	0.34958	1.482000	0.48325	0.491000	0.48974	AGT		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		11	216	0	0	0	1	0	11	216				
TMEM14A	28978	broad.mit.edu	37	6	52548949	52548949	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:52548949G>C	ENST00000211314.4	+	4	399	c.246G>C	c.(244-246)ttG>ttC	p.L82F		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	82						integral component of membrane (GO:0016021)				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTGCTGGTTTGGTTGCAGGTT	0.348																																						ENST00000211314.4																			0				endometrium(2)|lung(2)	4						c.(244-246)ttG>ttC		transmembrane protein 14A							152.0	154.0	153.0					6																	52548949		2203	4300	6503	SO:0001583	missense	28978					integral to membrane		g.chr6:52548949G>C	AF239771	CCDS4943.1	6p12.3	2008-02-05			ENSG00000096092	ENSG00000096092			21076	protein-coding gene	gene with protein product							Standard	NM_014051		Approved	PTD011, C6orf73	uc003pax.3	Q9Y6G1	OTTHUMG00000014856	ENST00000211314.4:c.246G>C	6.37:g.52548949G>C	ENSP00000211314:p.Leu82Phe						p.L82F	NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN			4	399	+	Lung NSC(77;0.118)		82					B2R552	Missense_Mutation	SNP	ENST00000211314.4	37	c.246G>C	CCDS4943.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054581	0.36277	.	.	ENSG00000096092	ENST00000211314	T	0.53640	0.61	5.97	3.19	0.36642	.	0.208640	0.40302	N	0.001130	T	0.16769	0.0403	.	.	.	0.39284	D	0.964614	B	0.28971	0.229	B	0.26693	0.072	T	0.10337	-1.0634	9	0.56958	D	0.05	-27.9493	2.2363	0.04009	0.1792:0.2275:0.4676:0.1257	.	82	Q9Y6G1	TM14A_HUMAN	F	82	ENSP00000211314:L82F	ENSP00000211314:L82F	L	+	3	2	TMEM14A	52656908	0.981000	0.34729	1.000000	0.80357	0.821000	0.46438	-0.012000	0.12699	0.867000	0.35654	0.650000	0.86243	TTG		0.348	TMEM14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040916.1	NM_014051		17	51	0	0	0	1	0	17	51				
DCDC1	341019	broad.mit.edu	37	11	30942332	30942332	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:30942332C>T	ENST00000406071.2	-	0	920				DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N|DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGAATTTCACTGGAAGCATT	0.438																																						ENST00000406071.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31								doublecortin domain containing 1							130.0	106.0	114.0					11																	30942332		2202	4299	6501			341019				intracellular signal transduction			g.chr11:30942332C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-512G>A	11.37:g.30942332C>T						DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N|DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N				P59894	DCDC1_HUMAN			0	920	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Translation_Start_Site	SNP	ENST00000406071.2	37			.	.	.	.	.	.	.	.	.	.	C	2.659	-0.280137	0.05642	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.52	1.95	0.26073	.	0.727071	0.13253	N	0.401954	T	0.31295	0.0792	L	0.60455	1.87	0.09310	N	1	B	0.22276	0.067	B	0.17433	0.018	T	0.20174	-1.0283	9	0.12430	T	0.62	-3.6764	4.8059	0.13319	0.0:0.4223:0.4262:0.1515	.	174	Q6ZRR9	DCDC5_HUMAN	N	174	.	ENSP00000341700:S174N	S	-	2	0	DCDC5	30898908	0.001000	0.12720	0.988000	0.46212	0.112000	0.19704	0.427000	0.21379	1.327000	0.45338	-0.165000	0.13383	AGT		0.438	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807		11	19	0	0	0	1	0	11	19				
MST1L	11223	broad.mit.edu	37	1	17084996	17084996	+	RNA	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:17084996C>T	ENST00000455405.2	-	0	192							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GTGAGTTGCCCGGATGGCCCC	0.602																																						ENST00000455405.2																			0																																																			0							g.chr1:17084996C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084996C>T														0	192	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.602	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	63	0	0	0	1	0	4	63				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			4	170	0	0	0	1	0	4	170				
DNM1P47	100216544	broad.mit.edu	37	15	102304727	102304727	+	RNA	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr15:102304727C>T	ENST00000561463.1	+	0	12773									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.622																																						ENST00000561463.1																			0																																																			0							g.chr15:102304727C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304727C>T														0	12773	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.622	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	15	0	0	0	1	0	5	15				
KRT81	3887	broad.mit.edu	37	12	52685222	52685222	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:52685222G>A	ENST00000327741.5	-	1	96	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	10	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGGCGCGCCCACCAAAT	0.657																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(28-30)Cgc>Tgc		keratin 81							26.0	30.0	28.0					12																	52685222		2179	4231	6410	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685222G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.28C>T	12.37:g.52685222G>A	ENSP00000369349:p.Arg10Cys					KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.R10C	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	96	-			10			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.28C>T	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715976	0.48622	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.83837	-1.77	5.17	4.28	0.50868	.	1.300300	0.06539	U	0.742939	D	0.88351	0.6413	M	0.87758	2.905	0.41694	D	0.989365	D	0.58970	0.984	P	0.48704	0.587	T	0.82794	-0.0281	10	0.87932	D	0	.	8.8261	0.35057	0.0:0.1526:0.6664:0.1811	.	10	Q14533	KRT81_HUMAN	C	10	ENSP00000369349:R10C	ENSP00000369349:R10C	R	-	1	0	KRT81	50971489	0.994000	0.37717	0.954000	0.39281	0.329000	0.28539	3.284000	0.51708	1.156000	0.42514	0.549000	0.68633	CGC		0.657	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		5	18	0	0	0	1	0	5	18				
FLNA	2316	broad.mit.edu	37	X	153585626	153585626	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:153585626G>T	ENST00000369850.3	-	30	5198	c.4962C>A	c.(4960-4962)caC>caA	p.H1654Q	FLNA_ENST00000360319.4_Intron|FLNA_ENST00000344736.4_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000369856.3_Intron	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1654					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCTAGCCCGTGACCTCCGA	0.637																																						ENST00000369850.3																			0				breast(6)	6						c.(4960-4962)caC>caA		filamin A, alpha							65.0	62.0	63.0					X																	153585626		1567	3582	5149	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153585626G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4962C>A	X.37:g.153585626G>T	ENSP00000358866:p.His1654Gln					FLNA_ENST00000344736.4_Intron|FLNA_ENST00000360319.4_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000369856.3_Intron	p.H1654Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN			30	5198	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1654					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4962C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239440	0.58995	.	.	ENSG00000196924	ENST00000369852;ENST00000369850	D	0.85258	-1.96	5.47	5.47	0.80525	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.87406	0.6169	L	0.43152	1.355	0.80722	D	1	D	0.63046	0.992	D	0.68765	0.96	D	0.84623	0.0685	10	0.24483	T	0.36	.	11.2512	0.49026	0.0901:0.0:0.9099:0.0	.	1654	P21333	FLNA_HUMAN	Q	1627;1654	ENSP00000358866:H1654Q	ENSP00000358866:H1654Q	H	-	3	2	FLNA	153238820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.102000	0.50291	2.294000	0.77228	0.529000	0.55759	CAC		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			27	39	1	0	1.55811e-20	1	1.68376e-20	27	39				
AKAP13	11214	broad.mit.edu	37	15	86287010	86287010	+	Silent	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr15:86287010G>A	ENST00000394518.2	+	36	8441	c.8346G>A	c.(8344-8346)aaG>aaA	p.K2782K	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000361243.2_Silent_p.K2786K|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.K1027K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2782	Interaction with ESR1.|Poly-Lys.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAAGGAAAAGAAGGAGAAAA	0.542																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8344-8346)aaG>aaA		A kinase (PRKA) anchor protein 13							41.0	46.0	44.0					15																	86287010		2199	4296	6495	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86287010G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8346G>A	15.37:g.86287010G>A						AKAP13_ENST00000394510.2_Silent_p.K1027K|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2786K	p.K2782K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8441	+			2782			Interaction with ESR1.|Poly-Lys.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.8346G>A	CCDS32319.1																																																																																				0.542	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	61	0	0	0	1	0	6	61				
OTOS	150677	broad.mit.edu	37	2	241078762	241078762	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:241078762G>A	ENST00000391989.2	-	5	325	c.95C>T	c.(94-96)gCg>gTg	p.A32V	MYEOV2_ENST00000307266.3_5'Flank|OTOS_ENST00000319460.1_Missense_Mutation_p.A32V			Q8NHW6	OTOSP_HUMAN	otospiralin	32					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGCAGCTCCGCGTAAGGGTC	0.602																																						ENST00000391989.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(94-96)gCg>gTg		otospiralin							55.0	59.0	58.0					2																	241078762		2203	4300	6503	SO:0001583	missense	150677					extracellular region		g.chr2:241078762G>A		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.95C>T	2.37:g.241078762G>A	ENSP00000375849:p.Ala32Val					OTOS_ENST00000319460.1_Missense_Mutation_p.A32V	p.A32V			Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	5	325	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)	32					Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	c.95C>T	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960556	0.34565	.	.	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.46819	0.86;0.86	3.76	3.76	0.43208	.	0.374328	0.28760	N	0.014240	T	0.26048	0.0635	.	.	.	0.25724	N	0.985348	P	0.39022	0.655	B	0.25759	0.063	T	0.13388	-1.0511	9	0.30854	T	0.27	-11.8738	9.0133	0.36155	0.0:0.0:0.7793:0.2207	.	32	Q8NHW6	OTOSP_HUMAN	V	32	ENSP00000375849:A32V;ENSP00000322486:A32V	ENSP00000322486:A32V	A	-	2	0	OTOS	240727435	0.961000	0.32948	0.152000	0.22495	0.631000	0.37964	3.013000	0.49582	1.843000	0.53566	0.205000	0.17691	GCG		0.602	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961		41	65	0	0	0	1	0	41	65				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	41	0	0	0	1	0	3	41				
OTOF	9381	broad.mit.edu	37	2	26690046	26690046	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:26690046G>A	ENST00000272371.2	-	35	4409	c.4283C>T	c.(4282-4284)aCt>aTt	p.T1428I	OTOF_ENST00000338581.6_Missense_Mutation_p.T661I|OTOF_ENST00000403946.3_Missense_Mutation_p.T1428I|OTOF_ENST00000339598.3_Missense_Mutation_p.T661I|OTOF_ENST00000402415.3_Missense_Mutation_p.T738I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1428					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGTTGAAAGTGTGCAGCCA	0.597																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4282-4284)aCt>aTt		otoferlin							75.0	71.0	72.0					2																	26690046		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26690046G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4283C>T	2.37:g.26690046G>A	ENSP00000272371:p.Thr1428Ile					OTOF_ENST00000402415.3_Missense_Mutation_p.T738I|OTOF_ENST00000339598.3_Missense_Mutation_p.T661I|OTOF_ENST00000338581.6_Missense_Mutation_p.T661I|OTOF_ENST00000403946.3_Missense_Mutation_p.T1428I	p.T1428I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4409	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1428					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4283C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489772	0.84962	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;D;D	0.82433	-1.33;-1.33;-1.35;-1.61;-1.61	5.06	5.06	0.68205	.	0.142359	0.64402	D	0.000006	D	0.87229	0.6125	M	0.71036	2.16	0.80722	D	1	P;B;P;B	0.51537	0.911;0.182;0.946;0.182	P;B;P;B	0.51385	0.649;0.126;0.668;0.177	D	0.87209	0.2246	10	0.42905	T	0.14	-18.0387	18.3847	0.90463	0.0:0.0:1.0:0.0	.	1428;661;738;661	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	661;661;738;1428;1428	ENSP00000345137:T661I;ENSP00000344521:T661I;ENSP00000383906:T738I;ENSP00000272371:T1428I;ENSP00000385255:T1428I	ENSP00000272371:T1428I	T	-	2	0	OTOF	26543550	1.000000	0.71417	0.949000	0.38748	0.991000	0.79684	9.779000	0.99018	2.506000	0.84524	0.655000	0.94253	ACT		0.597	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			4	107	0	0	0	1	0	4	107				
TGFBRAP1	9392	broad.mit.edu	37	2	105912881	105912881	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:105912881G>A	ENST00000393359.2	-	4	1396	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R324C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	324					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCTACTCTGCGGCTTGCTAGA	0.403																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(970-972)Cgc>Tgc		transforming growth factor, beta receptor associated protein 1							94.0	96.0	95.0					2																	105912881		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105912881G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.970C>T	2.37:g.105912881G>A	ENSP00000377027:p.Arg324Cys					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R324C	p.R324C			Q8WUH2	TGFA1_HUMAN			4	1396	-			324					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.970C>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808420	0.70797	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.44482	0.92;0.92	5.91	5.91	0.95273	.	0.523774	0.22611	N	0.057824	T	0.40956	0.1138	L	0.29908	0.895	0.58432	D	0.999997	D	0.53151	0.958	P	0.44860	0.462	T	0.31138	-0.9954	10	0.59425	D	0.04	-2.4023	20.2985	0.98592	0.0:0.0:1.0:0.0	.	324	Q8WUH2	TGFA1_HUMAN	C	324	ENSP00000377027:R324C;ENSP00000258449:R324C	ENSP00000258449:R324C	R	-	1	0	TGFBRAP1	105279313	1.000000	0.71417	0.044000	0.18714	0.682000	0.39822	9.192000	0.94947	2.793000	0.96121	0.655000	0.94253	CGC		0.403	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	111	0	0	0	1	0	4	111				
SSX6	280657	broad.mit.edu	37	X	47969979	47969979	+	IGR	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:47969979T>C								snoU13 (28740 upstream) : SSX6 (6486 downstream)																							ATGACTAAACTAGGTAACAGA	0.428																																						ENST00000376932.2																			0				large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						c.(181-183)cTa>cCa									142.0	105.0	117.0					X																	47969979		2192	4289	6481	SO:0001628	intergenic_variant	0							g.chrX:47969979T>C																													X.37:g.47969979T>C						SSX6_ENST00000319275.3_5'UTR	p.L61P							3	256	+									Missense_Mutation	SNP		37	c.182T>C		.	.	.	.	.	.	.	.	.	.	.	13.23	2.176335	0.38413	.	.	ENSG00000171483	ENST00000376932	T	0.01133	5.29	2.68	2.68	0.31781	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.000000	0.38111	N	0.001815	T	0.04543	0.0124	.	.	.	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.994;0.997	T	0.25882	-1.0119	9	0.87932	D	0	.	6.3271	0.21248	0.0:0.0:0.0:1.0	.	61;61	B7Z813;Q7RTT6	.;SSX6_HUMAN	P	61	ENSP00000366131:L61P	ENSP00000366131:L61P	L	+	2	0	SSX6	47854923	0.998000	0.40836	0.628000	0.29241	0.005000	0.04900	3.056000	0.49923	1.289000	0.44618	0.437000	0.28790	CTA	0	0.428									3	52	0	0	0	1	0	3	52				
ZSWIM8	23053	broad.mit.edu	37	10	75549206	75549206	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr10:75549206G>A	ENST00000605216.1	+	4	756	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R180H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	180							zinc ion binding (GO:0008270)										ATGTTTGACCGCTGCCGGGTC	0.612																																						ENST00000604729.1																			0											c.(538-540)cGc>cAc		zinc finger, SWIM-type containing 8							49.0	60.0	56.0					10																	75549206		2182	4265	6447	SO:0001583	missense	23053							g.chr10:75549206G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.539G>A	10.37:g.75549206G>A	ENSP00000474748:p.Arg180His					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R180H|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R180H	p.R180H							4	836	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.539G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.829264|4.829264	0.90955|0.90955	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000446546|ENST00000398706	.|T	.|0.53206	.|0.63	5.23|5.23	5.23|5.23	0.72850|0.72850	.|Zinc finger, SWIM-type (1);	.|.	.|.	.|.	.|.	T|T	0.74854|0.74854	0.3771|0.3771	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.78314	.|0.991;0.991;0.991	T|T	0.79764|0.79764	-0.1666|-0.1666	5|9	.|0.87932	.|D	.|0	.|.	19.0053|19.0053	0.92848|0.92848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|180;180;180	.|A7E2V4;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.	T|H	265|180	.|ENSP00000381693:R180H	.|ENSP00000381693:R180H	A|R	+|+	1|2	0|0	KIAA0913|KIAA0913	75219212|75219212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	9.592000|9.592000	0.98245|0.98245	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.612	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		6	9	0	0	0	1	0	6	9				
ADAMTS9	56999	broad.mit.edu	37	3	64640136	64640136	+	Splice_Site	SNP	T	T	C			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:64640136T>C	ENST00000498707.1	-	8	1553		c.e8-2		ADAMTS9_ENST00000295903.4_Splice_Site|ADAMTS9_ENST00000459780.1_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCCAGGCCTATTAGAAGGA	0.403																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.e8-2		ADAM metallopeptidase with thrombospondin type 1 motif, 9							102.0	109.0	106.0					3																	64640136		2203	4300	6503	SO:0001630	splice_region_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64640136T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1211-2A>G	3.37:g.64640136T>C						ADAMTS9_ENST00000459780.1_Splice_Site|ADAMTS9_ENST00000295903.4_Splice_Site		NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	8	1553	-		Lung NSC(201;0.00682)						A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Splice_Site	SNP	ENST00000498707.1	37		CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458854	0.26248	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5118	0.75789	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS9	64615176	1.000000	0.71417	0.852000	0.33557	0.090000	0.18270	8.040000	0.89188	2.069000	0.61940	0.533000	0.62120	.		0.403	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		Intron	8	102	0	0	0	1	0	8	102				
LPCAT3	10162	broad.mit.edu	37	12	7086824	7086824	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:7086824C>T	ENST00000261407.4	-	10	1209	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	375					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGAGTGCAGGCCGTGCCAGAG	0.507																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1123-1125)gGc>gAc		lysophosphatidylcholine acyltransferase 3							106.0	113.0	110.0					12																	7086824		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086824C>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1124G>A	12.37:g.7086824C>T	ENSP00000261407:p.Gly375Asp					LPCAT3_ENST00000535021.1_Intron|U47924.19_ENST00000564245.1_RNA	p.G375D	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			10	1209	-			375					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1124G>A	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942338	0.92526	.	.	ENSG00000111684	ENST00000261407	D	0.82433	-1.61	5.29	5.29	0.74685	.	0.048479	0.85682	D	0.000000	D	0.93245	0.7848	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94524	0.7730	10	0.87932	D	0	-20.2163	18.958	0.92668	0.0:1.0:0.0:0.0	.	375	Q6P1A2	MBOA5_HUMAN	D	375	ENSP00000261407:G375D	ENSP00000261407:G375D	G	-	2	0	LPCAT3	6957085	1.000000	0.71417	0.797000	0.32132	0.957000	0.61999	7.487000	0.81328	2.478000	0.83669	0.561000	0.74099	GGC		0.507	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		8	153	0	0	0	1	0	8	153				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	20	0	0	0	1	0	16	20				
IQSEC1	9922	broad.mit.edu	37	3	12950911	12950911	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:12950911T>G	ENST00000273221.4	-	11	2698	c.2482A>C	c.(2482-2484)Acc>Ccc	p.T828P		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	828	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGACGAGGTGAGCCGGATG	0.547																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2482-2484)Acc>Ccc		IQ motif and Sec7 domain 1							84.0	86.0	85.0					3																	12950911		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12950911T>G	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2482A>C	3.37:g.12950911T>G	ENSP00000273221:p.Thr828Pro						p.T828P	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			11	2698	-			828			PH.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2482A>C	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.36|17.36	3.370041|3.370041	0.61624|0.61624	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.51071	.|0.72;0.72	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.|0.050347	.|0.85682	.|D	.|0.000000	T|T	0.61627|0.61627	0.2362|0.2362	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|P;D;P	.|0.61697	.|0.882;0.99;0.882	.|P;P;P	.|0.61003	.|0.683;0.882;0.571	T|T	0.64024|0.64024	-0.6504|-0.6504	4|9	.|0.51188	.|T	.|0.08	.|.	10.6929|10.6929	0.45882|0.45882	0.0:0.0:0.1601:0.8399|0.0:0.0:0.1601:0.8399	.|.	.|814;814;828	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	P|P	828|828;814;814	.|ENSP00000273221:T828P;ENSP00000402299:T814P	.|ENSP00000273221:T828P	H|T	-|-	2|1	0|0	IQSEC1|IQSEC1	12925911|12925911	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.608000|0.608000	0.37181|0.37181	5.031000|5.031000	0.64134|0.64134	1.909000|1.909000	0.55274|0.55274	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.547	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		8	82	0	0	0	1	0	8	82				
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						ENST00000366835.3																			1	Deletion - In frame(1)	p.Q775delQ(1)	breast(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2323-2325)del		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2593_2595	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		8	162						8	162	---	---	---	---
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	lincRNA	INS	-	-	A	rs71402229|rs56728844		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:38710012_38710013insA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252																																						ENST00000417039.1																			0																																																			0							g.chr2:38710012_38710013insA																													2.37:g.38710018_38710018dupA														0	696	-									RNA	INS	ENST00000417039.1	37																																																																																						0.252	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			2	4						2	4	---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7867503	7867504	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:7867503_7867504delCT	ENST00000264669.5	-	2	829_830	c.693_694delAG	c.(691-696)tcaggtfs	p.G232fs	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	232					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCACACAACCTGAACTGTGCA	0.421																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(691-696)tcgtfs		FAST kinase domains 3																																				SO:0001589	frameshift_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867503_7867504delCT	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.693_694delAG	5.37:g.7867503_7867504delCT	ENSP00000264669:p.Gly232fs					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.SG231fs	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	829_830	-			231					Q9BVD3	Frame_Shift_Del	DEL	ENST00000264669.5	37	c.693_694delAG	CCDS3873.1																																																																																				0.421	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		10	78						10	78	---	---	---	---
NUTM2E	283008	broad.mit.edu	37	10	81609654	81609654	+	Frame_Shift_Del	DEL	G	G	-	rs575683892	byFrequency	TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr10:81609654delG	ENST00000429984.3	+	7	2312	c.1929delG	c.(1927-1929)ttgfs	p.L643fs	NUTM2E_ENST00000602967.1_3'UTR			B1AL46	NTM2E_HUMAN	NUT family member 2E	643																	CAGCCCGGTTGGACTCAAGTT	0.597																																						ENST00000429984.3																			0											c.(1927-1929)ttfs																																						SO:0001589	frameshift_variant	0							g.chr10:81609654delG			10q22.3	2013-03-14	2013-03-14	2013-03-14	ENSG00000228570	ENSG00000228570			23448	other	unknown			"""family with sequence similarity 22, member E"""	FAM22E			Standard	NG_012781		Approved			B1AL46	OTTHUMG00000018586	ENST00000429984.3:c.1929delG	10.37:g.81609654delG	ENSP00000407521:p.Leu643fs					NUTM2E_ENST00000602967.1_3'UTR	p.L643fs							7	2312	+								A6NHL0	Frame_Shift_Del	DEL	ENST00000429984.3	37	c.1929delG																																																																																					0.597	NUTM2E-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NG_012781		2	4						2	4	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109831174	109831174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:109831174delC	ENST00000431443.2	+	2	165	c.165delC	c.(163-165)tacfs	p.Y55fs	MYO1H_ENST00000310903.5_Frame_Shift_Del_p.Y55fs	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	55	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGAATCCATACCAGGAGCTCG	0.453																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(163-165)tafs		myosin IH							101.0	97.0	98.0					12																	109831174		1909	4126	6035	SO:0001589	frameshift_variant	283446					myosin complex	motor activity	g.chr12:109831174delC		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.165delC	12.37:g.109831174delC	ENSP00000444076:p.Tyr55fs					MYO1H_ENST00000431443.2_Frame_Shift_Del_p.Y55fs	p.Y55fs			B4DNW6	B4DNW6_HUMAN			3	271	+			181					F5H3C6	Frame_Shift_Del	DEL	ENST00000431443.2	37	c.165delC																																																																																					0.453	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		2	4						2	4	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30396622	30396623	+	In_Frame_Ins	INS	-	-	CCCGGA	rs200987283|rs139860047|rs45471692	byFrequency	TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr14:30396622_30396623insCCCGGA	ENST00000331968.5	-	1	325_326	c.96_97insTCCGGG	c.(94-99)gggccc>gggTCCGGGccc	p.31_32insGS	PRKD1_ENST00000415220.2_In_Frame_Ins_p.31_32insGS	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	31					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGGCCCGGGCCCGGACCCTG	0.762														343	0.0684904	0.003	0.0548	5008	,	,		4659	0.1567		0.0507	False		,,,				2504	0.0941					ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(94-99)ggccgg>ggTCCGGGccgg		protein kinase D1				31,2319		11,9,1155						3.1	1.0		dbSNP_127	3	234,5084		58,118,2483	no	coding	PRKD1	NM_002742.2		69,127,3638	A1A1,A1R,RR		4.4002,1.3191,3.4559				265,7403				SO:0001652	inframe_insertion	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30396622_30396623insCCCGGA		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.91_96dupTCCGGG	14.37:g.30396623_30396628dupCCCGGA	ENSP00000333568:p.Gly30_Ser31dup					PRKD1_ENST00000415220.2_In_Frame_Ins_p.35_36insGP	p.35_36insGP	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	1	325_326	-	Hepatocellular(127;0.0604)		35					A6NL64|B2RAF6	In_Frame_Ins	INS	ENST00000331968.5	37	c.96_97insTCCGGG	CCDS9637.1																																																																																				0.762	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		6	5						6	5	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaa	0.413																																						ENST00000528584.1																			0																																																			0							g.chr15:28900331delA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900331delA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.413	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		3	4						3	4	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		9	107						9	107	---	---	---	---
NEUROD2	4761	broad.mit.edu	37	17	37762632	37762632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:37762632delT	ENST00000302584.4	-	2	441	c.221delA	c.(220-222)aagfs	p.K74fs		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	74					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			gccttcctcctTGACCTCGGC	0.726																																						ENST00000302584.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(220-222)agfs		neuronal differentiation 2							19.0	16.0	17.0					17																	37762632		2193	4290	6483	SO:0001589	frameshift_variant	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762632delT	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.221delA	17.37:g.37762632delT	ENSP00000306754:p.Lys74fs						p.K74fs	NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	441	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		74					Q8TBI7|Q9UQC6	Frame_Shift_Del	DEL	ENST00000302584.4	37	c.221delA	CCDS11338.1																																																																																				0.726	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			4	9						4	9	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100911610	100911612	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:100911610_100911612delGCA	ENST00000328766.5	-	5	1416_1418	c.963_965delTGC	c.(961-966)gctgca>gca	p.321_322AA>A	ARMCX2_ENST00000330154.2_In_Frame_Del_p.321_322AA>A|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_In_Frame_Del_p.321_322AA>A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	321						integral component of membrane (GO:0016021)		p.G316fs*3(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGCAGAGGCTGCAGCAGCTGCTG	0.586																																						ENST00000328766.5																			1	Deletion - Frameshift(1)	p.G316fs*3(1)	ovary(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(961-966)gca>gc		armadillo repeat containing, X-linked 2																																				SO:0001651	inframe_deletion	9823					integral to membrane	binding	g.chrX:100911610_100911612delGCA	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.963_965delTGC	X.37:g.100911613_100911615delGCA	ENSP00000331662:p.Ala323del					ARMCX2_ENST00000330154.2_In_Frame_Del_p.AA321del|ARMCX2_ENST00000356824.4_In_Frame_Del_p.AA321del	p.AA321del	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1416_1418	-			321					O60267|Q5H9D9	In_Frame_Del	DEL	ENST00000328766.5	37	c.963_965delTGC	CCDS14490.1																																																																																				0.586	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		10	135						10	135	---	---	---	---
