#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf87	127795	broad.mit.edu	37	1	60456420	60456420	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:60456420G>C	ENST00000371201.3	-	12	1673	c.1566C>G	c.(1564-1566)gaC>gaG	p.D522E	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E|C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	522							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAAGGCCTGGTCGATTTTCT	0.488																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1564-1566)gaC>gaG		chromosome 1 open reading frame 87							240.0	246.0	244.0					1																	60456420		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60456420G>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1566C>G	1.37:g.60456420G>C	ENSP00000360244:p.Asp522Glu		Somatic				C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E|C1orf87_ENST00000486478.1_5'UTR	p.D522E	NM_152377.2	NP_689590.1	WXS	Illumina GAIIx	Phase_I	Q8N0U7	CA087_HUMAN			12	1673	-			522					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.1566C>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391912	0.62066	.	.	ENSG00000162598	ENST00000371201;ENST00000395552	T;T	0.33654	2.02;1.4	4.72	2.65	0.31530	EF-hand-like domain (1);	0.376195	0.22679	N	0.056973	T	0.21631	0.0521	L	0.45581	1.43	0.24962	N	0.991722	P	0.36144	0.539	B	0.30179	0.112	T	0.06972	-1.0797	10	0.22109	T	0.4	-4.5929	3.0716	0.06233	0.2335:0.2622:0.5043:0.0	.	522	Q8N0U7	CA087_HUMAN	E	522;156	ENSP00000360244:D522E;ENSP00000378921:D156E	ENSP00000360244:D522E	D	-	3	2	C1orf87	60229008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.344000	0.52174	1.165000	0.42670	0.563000	0.77884	GAC		0.488	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		50	158	50	158	---	---	---	---
KIAA1614	57710	broad.mit.edu	37	1	180885841	180885841	+	Missense_Mutation	SNP	C	C	T	rs199998538	byFrequency	TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:180885841C>T	ENST00000367588.4	+	2	657	c.602C>T	c.(601-603)cCg>cTg	p.P201L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	201										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGAGGTCCGCTGCTGGGG	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17853	0.0		0.0	False		,,,				2504	0.001					ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(601-603)cCg>cTg		KIAA1614		C	LEU/PRO	0,3808		0,0,1904	79.0	84.0	83.0		602	-2.7	0.0	1		83	1,8205		0,1,4102	yes	missense	KIAA1614	NM_020950.1	98	0,1,6006	TT,TC,CC		0.0122,0.0,0.0083	benign	201/1191	180885841	1,12013	1904	4103	6007	SO:0001583	missense	57710							g.chr1:180885841C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.602C>T	1.37:g.180885841C>T	ENSP00000356560:p.Pro201Leu		Somatic					p.P201L	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	Q5VZ46	K1614_HUMAN			2	657	+			201					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.602C>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	0.324	-0.960035	0.02267	0.0	1.22E-4	ENSG00000135835	ENST00000367588	T	0.04809	3.55	4.57	-2.71	0.05986	.	1.427210	0.05052	N	0.478343	T	0.02304	0.0071	N	0.08118	0	0.23243	N	0.998059	B	0.06786	0.001	B	0.04013	0.001	T	0.46247	-0.9205	9	0.13470	T	0.59	1.9144	4.5024	0.11870	0.2899:0.4285:0.0:0.2816	.	201	Q5VZ46	K1614_HUMAN	L	201	ENSP00000356560:P201L	ENSP00000356560:P201L	P	+	2	0	KIAA1614	179152464	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.046000	0.14035	-0.737000	0.04824	-0.253000	0.11424	CCG		0.612	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		6	105	6	105	---	---	---	---
TATDN3	128387	broad.mit.edu	37	1	212985626	212985626	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:212985626A>G	ENST00000366974.4	+	9	731	c.637A>G	c.(637-639)Ata>Gta	p.I213V	TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V|TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	213					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TTTAACTTCTATATGCTTAGA	0.294																																						ENST00000366974.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(637-639)Ata>Gta		TatD DNase domain containing 3							52.0	54.0	53.0					1																	212985626		2203	4300	6503	SO:0001583	missense	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212985626A>G	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.637A>G	1.37:g.212985626A>G	ENSP00000355941:p.Ile213Val		Somatic				TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V	p.I213V	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	WXS	Illumina GAIIx	Phase_I	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	9	731	+			213					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	c.637A>G	CCDS31019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.33|12.33	1.904788|1.904788	0.33628|0.33628	.|.	.|.	ENSG00000203705|ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000527693|ENST00000526997	.|.	.|.	.|.	5.46|5.46	4.32|4.32	0.51571|0.51571	.|.	0.135624|.	0.64402|.	D|.	0.000003|.	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.58810|0.58810	1.83|1.83	0.30719|0.30719	N|N	0.748427|0.748427	B;B;B;B;B;B|.	0.24426|.	0.015;0.005;0.001;0.103;0.012;0.008|.	B;B;B;B;B;B|.	0.28709|.	0.075;0.093;0.022;0.083;0.045;0.052|.	T|T	0.59627|0.59627	-0.7419|-0.7419	9|6	0.59425|0.59425	D|D	0.04|0.04	-2.9829|-2.9829	12.4831|12.4831	0.55856|0.55856	0.8604:0.1396:0.0:0.0|0.8604:0.1396:0.0:0.0	.|.	160;192;220;220;212;213|.	B7Z2Z9;E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31|.	.;.;.;.;.;TATD3_HUMAN|.	V|C	220;213;192;220;212;24|174	.|.	ENSP00000355940:I212V|ENSP00000436364:Y174C	I|Y	+|+	1|2	0|0	TATDN3|TATDN3	211052249|211052249	0.996000|0.996000	0.38824|0.38824	0.613000|0.613000	0.29037|0.29037	0.484000|0.484000	0.33280|0.33280	3.000000|3.000000	0.49481|0.49481	0.881000|0.881000	0.35993|0.35993	0.528000|0.528000	0.53228|0.53228	ATA|TAT		0.294	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		11	21	11	21	---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67632038	67632038	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:67632038A>C	ENST00000272342.5	+	5	2354	c.2224A>C	c.(2224-2226)Atc>Ctc	p.I742L	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	742						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTATTCTAAGATCTCAAACTG	0.348																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2224-2226)Atc>Ctc		Ewing tumor-associated antigen 1							58.0	61.0	60.0					2																	67632038		2203	4298	6501	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67632038A>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2224A>C	2.37:g.67632038A>C	ENSP00000272342:p.Ile742Leu		Somatic				ETAA1_ENST00000462772.1_Intron	p.I742L	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			5	2354	+			742					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2224A>C	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	6.142	0.394497	0.11638	.	.	ENSG00000143971	ENST00000272342	T	0.16457	2.34	5.83	4.56	0.56223	.	0.636432	0.16331	N	0.219101	T	0.11324	0.0276	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.16867	-1.0388	10	0.26408	T	0.33	-21.9319	9.7986	0.40751	0.8024:0.0:0.0:0.1976	.	742	Q9NY74	ETAA1_HUMAN	L	742	ENSP00000272342:I742L	ENSP00000272342:I742L	I	+	1	0	ETAA1	67485542	0.272000	0.24172	0.127000	0.21898	0.041000	0.13682	2.549000	0.45803	2.225000	0.72522	0.533000	0.62120	ATC		0.348	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		4	32	4	32	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38647629	38647629	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:38647629G>T	ENST00000333535.4	-	10	1300	c.1151C>A	c.(1150-1152)tCc>tAc	p.S384Y	SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000413689.1_Missense_Mutation_p.S384Y			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	384					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTCCCTGCGGACCTGAGGGT	0.572																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1150-1152)tCc>tAc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						46.0	46.0	46.0					3																	38647629		1950	4144	6094	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38647629G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1151C>A	3.37:g.38647629G>T	ENSP00000328968:p.Ser384Tyr		Somatic				SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y	p.S384Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1344	-	Medulloblastoma(35;0.163)		384					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1151C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534077	0.85812	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	M	0.88570	2.965	0.58432	D	0.999991	D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.997;0.999;0.996	D;D;D;D;D;D	0.87578	0.964;0.998;0.964;0.964;0.958;0.939	D	0.99429	1.0935	10	0.87932	D	0	.	19.4202	0.94719	0.0:0.0:1.0:0.0	.	384;384;384;384;384;384	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Y	384	ENSP00000398962:S384Y;ENSP00000398266:S384Y;ENSP00000410257:S384Y;ENSP00000388797:S384Y;ENSP00000397915:S384Y;ENSP00000416634:S384Y;ENSP00000328968:S384Y;ENSP00000399524:S384Y;ENSP00000403355:S384Y;ENSP00000413996:S384Y	ENSP00000328968:S384Y	S	-	2	0	SCN5A	38622633	1.000000	0.71417	0.976000	0.42696	0.876000	0.50452	7.741000	0.84997	2.825000	0.97269	0.655000	0.94253	TCC		0.572	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	33	7	33	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136221497	136221497	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:136221497C>G	ENST00000383202.2	-	8	1057	c.801G>C	c.(799-801)ttG>ttC	p.L267F	STAG1_ENST00000236698.5_Missense_Mutation_p.L267F|STAG1_ENST00000434713.2_Missense_Mutation_p.L41F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	267					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAGTAACTCCAACCTTTCAT	0.348																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(799-801)ttG>ttC		stromal antigen 1							180.0	172.0	175.0					3																	136221497		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136221497C>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.801G>C	3.37:g.136221497C>G	ENSP00000372689:p.Leu267Phe		Somatic				STAG1_ENST00000434713.2_Missense_Mutation_p.L41F|STAG1_ENST00000236698.5_Missense_Mutation_p.L267F	p.L267F	NM_005862.2	NP_005853.2	WXS	Illumina GAIIx	Phase_I	Q8WVM7	STAG1_HUMAN			8	1057	-			267					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.801G>C	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249937	0.80024	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.48522	0.81;0.81;0.81	5.67	3.78	0.43462	STAG (1);Armadillo-type fold (1);	0.072130	0.56097	D	0.000024	T	0.72317	0.3445	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.97110	0.985;1.0;0.991	T	0.77284	-0.2645	10	0.59425	D	0.04	.	11.2316	0.48916	0.0:0.847:0.0:0.153	.	284;267;267	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	F	267;267;41	ENSP00000372689:L267F;ENSP00000236698:L267F;ENSP00000404396:L41F	ENSP00000236698:L267F	L	-	3	2	STAG1	137704187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.928000	0.28831	1.301000	0.44836	0.491000	0.48974	TTG		0.348	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		9	49	9	49	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90052835	90052835	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:90052835C>T	ENST00000405460.2	+	57	11893	c.11797C>T	c.(11797-11799)Ccc>Tcc	p.P3933S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3933	Calx-beta 26. {ECO:0000255}.				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)		GGTGCCTCCACCCTTGAACGT	0.443																																						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.(11797-11799)Ccc>Tcc		G protein-coupled receptor 98							101.0	98.0	99.0					5																	90052835		1854	4091	5945	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.chr5:90052835C>T	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.11797C>T	5.37:g.90052835C>T	ENSP00000384582:p.Pro3933Ser		Somatic					p.P3933S	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	57	11893	+		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)	3933					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11797C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134431	0.56828	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.25912	1.77	5.3	5.3	0.74995	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	N	0.25245	0.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.08066	-1.0740	10	0.24483	T	0.36	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	3933;3933	E7ETI5;Q8WXG9	.;GPR98_HUMAN	S	3933	ENSP00000384582:P3933S	ENSP00000296619:P3933S	P	+	1	0	GPR98	90088591	1.000000	0.71417	0.842000	0.33263	0.157000	0.22087	6.878000	0.75567	2.636000	0.89361	0.467000	0.42956	CCC		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	35	6	35	---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140432441	140432441	+	Silent	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:140432441A>C	ENST00000306549.3	+	1	1463	c.1386A>C	c.(1384-1386)cgA>cgC	p.R462R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTGTTCGAGAAAACAACA	0.418																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1384-1386)cgA>cgC									77.0	75.0	75.0					5																	140432441		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432441A>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1386A>C	5.37:g.140432441A>C			Somatic					p.R462R	NM_013340.2	NP_037472.2	WXS	Illumina GAIIx	Phase_I	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1463	+			462			Cadherin 5.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.1386A>C	CCDS4243.1																																																																																				0.418	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		17	31	17	31	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79713461	79713461	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr6:79713461T>C	ENST00000275034.4	-	16	1806	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	547					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATATTTGCTACTGGACCCA	0.383																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1639-1641)Agc>Ggc		pleckstrin homology domain interacting protein							75.0	72.0	73.0					6																	79713461		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79713461T>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1639A>G	6.37:g.79713461T>C	ENSP00000275034:p.Ser547Gly		Somatic					p.S547G	NM_017934.5	NP_060404	WXS	Illumina GAIIx	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	16	1806	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	547					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1639A>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118956	0.37436	.	.	ENSG00000146247	ENST00000275034	T	0.42513	0.97	5.42	5.42	0.78866	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.41236	1.265	0.80722	D	1	P;P	0.38195	0.622;0.622	B;B	0.36885	0.235;0.235	T	0.04029	-1.0983	9	.	.	.	-11.7237	14.9337	0.70935	0.0:0.0:0.0:1.0	.	547;547	A7J992;Q8WWQ0	.;PHIP_HUMAN	G	547	ENSP00000275034:S547G	.	S	-	1	0	PHIP	79770180	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	3.865000	0.56033	2.176000	0.68965	0.528000	0.53228	AGC		0.383	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			6	14	6	14	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83016314	83016314	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:83016314C>G	ENST00000307792.3	-	15	2187	c.1720G>C	c.(1720-1722)Gga>Cga	p.G574R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	574					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G574R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACTGTTGTCCAAAGCACTGC	0.358																																						ENST00000307792.3																			1	Substitution - Missense(1)	p.G574R(1)	lung(1)	breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1720-1722)Gga>Cga		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							86.0	73.0	77.0					7																	83016314		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83016314C>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1720G>C	7.37:g.83016314C>G	ENSP00000303212:p.Gly574Arg		Somatic				SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	p.G574R	NM_012431.2	NP_036563.1	WXS	Illumina GAIIx	Phase_I	O15041	SEM3E_HUMAN			15	2187	-		Medulloblastoma(109;0.109)	574					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1720G>C	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578048	0.86645	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.31247	1.54;1.5	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.58070	-0.7701	10	0.62326	D	0.03	.	19.6817	0.95967	0.0:1.0:0.0:0.0	.	574	O15041	SEM3E_HUMAN	R	574;514;574	ENSP00000303212:G574R;ENSP00000405052:G514R	ENSP00000303212:G574R	G	-	1	0	SEMA3E	82854250	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.978000	0.76147	2.653000	0.90120	0.650000	0.86243	GGA		0.358	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		7	9	7	9	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123594258	123594258	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:123594258C>A	ENST00000439500.1	+	4	1247	c.634C>A	c.(634-636)Cca>Aca	p.P212T	SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T|SPAM1_ENST00000340011.5_Missense_Mutation_p.P212T	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	212					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATTACTTCGGCCAAATCACTT	0.378																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(634-636)Cca>Aca		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						79.0	84.0	82.0					7																	123594258		2203	4299	6502	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594258C>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.634C>A	7.37:g.123594258C>A	ENSP00000402123:p.Pro212Thr		Somatic				SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P212T	p.P212T	NM_003117.4	NP_003108.2	WXS	Illumina GAIIx	Phase_I	P38567	HYALP_HUMAN			3	991	+			212					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.634C>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218071	0.79352	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	6.17	4.38	0.52667	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	H	0.96633	3.855	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80935	-0.1160	9	.	.	.	-23.9919	11.491	0.50381	0.0:0.8072:0.1259:0.0669	.	212;212	Q8TC30;P38567	.;HYALP_HUMAN	T	212	ENSP00000386028:P212T;ENSP00000417934:P212T;ENSP00000345849:P212T;ENSP00000402123:P212T;ENSP00000223028:P212T	.	P	+	1	0	SPAM1	123381494	1.000000	0.71417	0.100000	0.21137	0.976000	0.68499	7.818000	0.86416	0.941000	0.37499	0.655000	0.94253	CCA		0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			4	26	4	26	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55542611	55542611	+	Missense_Mutation	SNP	C	C	G	rs201860457		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:55542611C>G	ENST00000220676.1	+	4	6317	c.6169C>G	c.(6169-6171)Cag>Gag	p.Q2057E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2057					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTCAGCGGTCAGACAAATGA	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		18027	0.0		0.001	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6169-6171)Cag>Gag		retinitis pigmentosa 1 (autosomal dominant)							65.0	66.0	65.0					8																	55542611		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542611C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6169C>G	8.37:g.55542611C>G	ENSP00000220676:p.Gln2057Glu		Somatic					p.Q2057E	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6317	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2057						Missense_Mutation	SNP	ENST00000220676.1	37	c.6169C>G	CCDS6160.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.489	0.458354	0.12342	.	.	ENSG00000104237	ENST00000220676	T	0.25749	1.78	5.67	-1.66	0.08265	.	0.864090	0.09791	N	0.755345	T	0.21267	0.0512	M	0.62723	1.935	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.38112	-0.9676	10	0.66056	D	0.02	.	1.544	0.02561	0.2209:0.5284:0.1101:0.1406	.	2057	P56715	RP1_HUMAN	E	2057	ENSP00000220676:Q2057E	ENSP00000220676:Q2057E	Q	+	1	0	RP1	55705164	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	-0.095000	0.11077	-0.675000	0.05246	-0.469000	0.05056	CAG		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	34	10	34	---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58118485	58118485	+	Splice_Site	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:58118485C>A	ENST00000373944.3	-	7	662	c.624G>T	c.(622-624)agG>agT	p.R208S	ZWINT_ENST00000318387.2_Splice_Site_p.R88S|ZWINT_ENST00000395405.1_Splice_Site_p.R208S|ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000361148.6_Intron			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	208					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGGTCTGATACCTACAAAGAG	0.517																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(622-624)agG>agT		ZW10 interacting kinetochore protein							81.0	75.0	77.0					10																	58118485		2203	4300	6503	SO:0001630	splice_region_variant	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118485C>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.624-1G>T	10.37:g.58118485C>A			Somatic				ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000395405.1_Splice_Site_p.R208S|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Splice_Site_p.R88S	p.R208S			WXS	Illumina GAIIx	Phase_I	O95229	ZWINT_HUMAN			7	662	-			208					A6NNV6|Q0D2I3|Q9BWD0	Splice_Site	SNP	ENST00000373944.3	37	c.624G>T	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776642	0.31411	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387	T;T;T	0.55052	0.54;0.54;0.54	4.35	2.35	0.29111	.	0.000000	0.51477	D	0.000091	T	0.52208	0.1720	M	0.62723	1.935	0.30325	N	0.787232	P	0.50943	0.94	P	0.50352	0.638	T	0.56282	-0.8005	10	0.87932	D	0	.	3.9067	0.09185	0.2331:0.6338:0.0:0.1331	.	208	O95229	ZWINT_HUMAN	S	208;208;88	ENSP00000363055:R208S;ENSP00000378801:R208S;ENSP00000322850:R88S	ENSP00000322850:R88S	R	-	3	2	ZWINT	57788491	0.954000	0.32549	0.986000	0.45419	0.007000	0.05969	0.229000	0.17833	0.671000	0.31185	0.563000	0.77884	AGG		0.517	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1		Missense_Mutation	15	25	15	25	---	---	---	---
IFIT2	3433	broad.mit.edu	37	10	91066539	91066539	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:91066539T>A	ENST00000371826.3	+	2	995	c.826T>A	c.(826-828)Tac>Aac	p.Y276N	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	276					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGCTTTAGAATACATACCAAA	0.418																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(826-828)Tac>Aac		interferon-induced protein with tetratricopeptide repeats 2							126.0	121.0	123.0					10																	91066539		1912	4149	6061	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066539T>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.826T>A	10.37:g.91066539T>A	ENSP00000360891:p.Tyr276Asn		Somatic				LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.Y276N	NM_001547.4	NP_001538.4	WXS	Illumina GAIIx	Phase_I	P09913	IFIT2_HUMAN			2	995	+		Colorectal(252;0.0161)	276					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.826T>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089629	0.20390	.	.	ENSG00000119922	ENST00000371826	T	0.60040	0.22	4.58	-9.16	0.00694	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	4.732320	0.01046	U	0.004391	T	0.28732	0.0712	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.28385	0.089	T	0.16837	-1.0389	10	0.26408	T	0.33	5.009	4.5265	0.11983	0.1667:0.322:0.4022:0.1091	.	276	P09913	IFIT2_HUMAN	N	276	ENSP00000360891:Y276N	ENSP00000360891:Y276N	Y	+	1	0	IFIT2	91056519	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.810000	0.00183	-1.870000	0.01139	0.533000	0.62120	TAC		0.418	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		12	45	12	45	---	---	---	---
CCDC186	55088	broad.mit.edu	37	10	115917401	115917401	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:115917401A>G	ENST00000369287.3	-	3	937	c.671T>C	c.(670-672)gTa>gCa	p.V224A		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		224										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACAAATGTCTACGAAGAGCTC	0.284																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(670-672)gTa>gCa		chromosome 10 open reading frame 118							88.0	87.0	87.0					10																	115917401		2202	4299	6501	SO:0001583	missense	55088							g.chr10:115917401A>G																												ENST00000369287.3:c.671T>C	10.37:g.115917401A>G	ENSP00000358293:p.Val224Ala		Somatic					p.V224A	NM_018017.2	NP_060487.2	WXS	Illumina GAIIx	Phase_I	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	3	937	-		Colorectal(252;0.172)|Breast(234;0.188)	224					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.671T>C	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164786	0.57476	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.29655	1.56	5.49	5.49	0.81192	.	0.310059	0.31312	N	0.007869	T	0.21427	0.0516	N	0.22421	0.69	0.80722	D	1	B	0.20164	0.042	B	0.21151	0.033	T	0.06935	-1.0799	10	0.20046	T	0.44	.	13.3758	0.60739	1.0:0.0:0.0:0.0	.	224	Q7Z3E2	CJ118_HUMAN	A	224;330	ENSP00000358293:V224A	ENSP00000358293:V224A	V	-	2	0	C10orf118	115907391	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	8.013000	0.88655	2.083000	0.62718	0.529000	0.55759	GTA		0.284	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			7	10	7	10	---	---	---	---
C11orf57	55216	broad.mit.edu	37	11	111948994	111948994	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr11:111948994A>G	ENST00000280352.9	+	3	761	c.125A>G	c.(124-126)gAt>gGt	p.D42G	C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G|C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000532163.1_Missense_Mutation_p.D13G	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	42										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CAGATGGAAGATGCTTACCGG	0.338																																						ENST00000532163.1																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(37-39)gAt>gGt		chromosome 11 open reading frame 57							55.0	59.0	57.0					11																	111948994		2201	4297	6498	SO:0001583	missense	55216							g.chr11:111948994A>G	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.125A>G	11.37:g.111948994A>G	ENSP00000339076:p.Asp42Gly		Somatic				C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000280352.9_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G	p.D13G			WXS	Illumina GAIIx	Phase_I	Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	3	804	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	42					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	c.38A>G	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565400	0.65651	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047;ENST00000525785	.	.	.	5.48	5.48	0.80851	.	0.263724	0.37761	N	0.001954	T	0.63474	0.2514	L	0.47716	1.5	0.39292	D	0.964752	P;P;B	0.50819	0.879;0.939;0.42	P;P;B	0.52823	0.503;0.71;0.198	T	0.68716	-0.5335	9	0.62326	D	0.03	-4.0799	15.2101	0.73214	1.0:0.0:0.0:0.0	.	42;42;42	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	G	42;13;42;42;42;42;13	.	ENSP00000339076:D42G	D	+	2	0	C11orf57	111454204	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.869000	0.63028	2.069000	0.61940	0.443000	0.29094	GAT		0.338	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		6	16	6	16	---	---	---	---
PSMC6	5706	broad.mit.edu	37	14	53173992	53173992	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr14:53173992C>T	ENST00000606149.1	+	1	71	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	PSMC6_ENST00000445930.2_Missense_Mutation_p.H33Y	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GTTGCTTGAACACAAGGAGAT	0.532																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(97-99)Cac>Tac		proteasome (prosome, macropain) 26S subunit, ATPase, 6							62.0	53.0	56.0					14																	53173992		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53173992C>T		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.55C>T	14.37:g.53173992C>T	ENSP00000475721:p.His19Tyr		Somatic				PSMC6_ENST00000606149.1_Missense_Mutation_p.H19Y	p.H33Y			WXS	Illumina GAIIx	Phase_I	P62333	PRS10_HUMAN			1	103	+	Breast(41;0.176)		19					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.97C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389264|3.389264	0.61956|0.61956	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000555339;ENST00000556813	D|.	0.93906|.	-3.31|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70211|0.70211	0.3198|0.3198	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.15484|.	0.013|.	T|T	0.68104|0.68104	-0.5497|-0.5497	10|5	0.11182|.	T|.	0.66|.	.|.	17.6419|17.6419	0.88139|0.88139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19|.	P62333|.	PRS10_HUMAN|.	Y|I	33|19;18	ENSP00000401802:H33Y|.	ENSP00000401802:H33Y|.	H|T	+|+	1|2	0|0	PSMC6|PSMC6	52243742|52243742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.549000|6.549000	0.73900|0.73900	2.561000|2.561000	0.86390|0.86390	0.561000|0.561000	0.74099|0.74099	CAC|ACA		0.532	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		16	29	16	29	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42439840	42439840	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:42439840C>T	ENST00000382396.4	-	12	1266	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.V396I			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	394	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACCCAGAGACCCCACTCAGG	0.602																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1186-1188)Gtc>Atc		phospholipase A2, group IVF							116.0	122.0	120.0					15																	42439840		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439840C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1180G>A	15.37:g.42439840C>T	ENSP00000371833:p.Val394Ile		Somatic				PLA2G4F_ENST00000382396.4_Missense_Mutation_p.V394I	p.V396I	NM_213600.3	NP_998765.3	WXS	Illumina GAIIx	Phase_I	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1277	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	394			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1186G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256045	0.39896	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.05513	3.43;3.43	5.29	4.3	0.51218	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.096304	0.44285	D	0.000462	T	0.05914	0.0154	L	0.48877	1.53	0.31625	N	0.649776	P;P	0.38129	0.619;0.619	B;B	0.33890	0.172;0.172	T	0.09422	-1.0675	10	0.17369	T	0.5	-36.4517	11.3232	0.49435	0.0:0.8747:0.0:0.1253	.	181;394	A2RRC4;Q68DD2	.;PA24F_HUMAN	I	390;396;394;394;394	ENSP00000380442:V396I;ENSP00000371833:V394I	ENSP00000290497:V390I	V	-	1	0	PLA2G4F	40227132	0.994000	0.37717	1.000000	0.80357	0.973000	0.67179	3.327000	0.52045	2.756000	0.94617	0.561000	0.74099	GTC		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		8	188	8	188	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45433155	45433155	+	Silent	SNP	G	G	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:45433155G>A	ENST00000321429.4	+	14	1859	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	DUOX1_ENST00000561166.1_Silent_p.G130G|DUOX1_ENST00000389037.3_Silent_p.G484G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	484	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCTCCCTGGGGGACTCCTGG	0.572																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1450-1452)ggG>ggA		dual oxidase 1							92.0	92.0	92.0					15																	45433155		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433155G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1452G>A	15.37:g.45433155G>A			Somatic				DUOX1_ENST00000389037.3_Silent_p.G484G|DUOX1_ENST00000561166.1_Silent_p.G130G	p.G484G	NM_017434.3	NP_059130.2	WXS	Illumina GAIIx	Phase_I	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1859	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	484			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.1452G>A	CCDS32221.1																																																																																				0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		33	50	33	50	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72244228	72244228	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:72244228T>C	ENST00000356056.5	-	15	2664	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	731	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGCGCTGTATCATCATGTCC	0.378																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2191-2193)gAt>gGt		myosin IXA							127.0	123.0	124.0					15																	72244228		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72244228T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2192A>G	15.37:g.72244228T>C	ENSP00000348349:p.Asp731Gly		Somatic				MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000563542.1_5'UTR	p.D731G	NM_006901.3	NP_008832.2	WXS	Illumina GAIIx	Phase_I	B2RTY4	MYO9A_HUMAN			15	2664	-			731					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2192A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683207	0.47991	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.85258	-1.95;-1.95;-1.96	5.2	5.2	0.72013	Myosin head, motor domain (1);	.	.	.	.	T	0.70842	0.3270	N	0.00926	-1.1	0.46131	D	0.998885	D;B;P	0.57899	0.981;0.099;0.942	P;B;P	0.54924	0.652;0.041;0.764	T	0.72030	-0.4413	9	0.19590	T	0.45	.	9.8357	0.40968	0.0:0.0771:0.0:0.9229	.	712;712;731	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	G	731;731;712;712	ENSP00000348349:D731G;ENSP00000399162:D731G;ENSP00000398250:D712G	ENSP00000261864:D712G	D	-	2	0	MYO9A	70031282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.650000	0.46665	2.090000	0.63153	0.460000	0.39030	GAT		0.378	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	37	20	37	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70162938	70162938	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:70162938C>A	ENST00000288050.4	+	6	1477	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	174					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGTGCACGACCTGGTGGGGGC	0.552																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(520-522)Ctg>Atg		pyruvate dehydrogenase phosphatase regulatory subunit							239.0	232.0	235.0					16																	70162938		2042	4205	6247	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70162938C>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.520C>A	16.37:g.70162938C>A	ENSP00000288050:p.Leu174Met		Somatic				PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M	p.L174M	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	6	1477	+			174					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.520C>A	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496231	0.85069	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.82984	-1.67;-1.67	4.5	4.5	0.54988	FAD dependent oxidoreductase (1);	0.000000	0.64402	D	0.000002	D	0.90435	0.7005	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91299	0.5065	10	0.54805	T	0.06	.	16.1775	0.81862	0.0:1.0:0.0:0.0	.	174	Q8NCN5	PDPR_HUMAN	M	174;74	ENSP00000288050:L174M;ENSP00000381190:L74M	ENSP00000288050:L174M	L	+	1	2	PDPR	68720439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.287000	0.59001	2.042000	0.60477	0.557000	0.71058	CTG		0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		37	241	37	241	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11687706	11687706	+	Silent	SNP	C	C	T	rs554551399		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr17:11687706C>T	ENST00000262442.4	+	41	7979	c.7911C>T	c.(7909-7911)ctC>ctT	p.L2637L	DNAH9_ENST00000454412.2_Silent_p.L2637L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2637	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L2637L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTGAAGCTCGGAAACTTCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17649	0.001		0.0	False		,,,				2504	0.0					ENST00000262442.4																			1	Substitution - coding silent(1)	p.L2637L(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7909-7911)ctC>ctT		dynein, axonemal, heavy chain 9							180.0	173.0	175.0					17																	11687706		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687706C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7911C>T	17.37:g.11687706C>T			Somatic				DNAH9_ENST00000454412.2_Silent_p.L2637L	p.L2637L	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7979	+		Breast(5;0.0122)|all_epithelial(5;0.131)				AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7911C>T	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	140	7	140	---	---	---	---
CXADRP3	440224	broad.mit.edu	37	18	14478680	14478680	+	lincRNA	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr18:14478680C>G	ENST00000581457.1	-	0	1228					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CAGATATAAACAGATGAAGTC	0.413																																						ENST00000581457.1																			0																																																			440224							g.chr18:14478680C>G			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478680C>G			Somatic						NR_024076.1		WXS	Illumina GAIIx	Phase_I					0	1228	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.413	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		8	10	8	10	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4155731	4155731	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:4155731G>T	ENST00000305958.4	+	2	254	c.29G>T	c.(28-30)aGt>aTt	p.S10I	SMOX_ENST00000346595.2_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000484515.1_3'UTR	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	10					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGTGGTGACAGTGCGGATGAC	0.607																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(28-30)aGt>aTt		spermine oxidase	Spermine(DB00127)						202.0	173.0	183.0					20																	4155731		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4155731G>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.29G>T	20.37:g.4155731G>T	ENSP00000307252:p.Ser10Ile		Somatic				SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I	p.S10I	NM_175839.2	NP_787033.1	WXS	Illumina GAIIx	Phase_I	Q9NWM0	SMOX_HUMAN			2	254	+			10					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.29G>T	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310867	0.95629	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460	T;T;T;T;T	0.46819	1.43;1.83;1.43;0.86;1.83	5.18	5.18	0.71444	.	0.121843	0.85682	D	0.000000	T	0.55016	0.1894	N	0.24115	0.695	0.58432	D	0.999998	D;D;D;D;D;D	0.76494	0.989;0.999;0.972;0.989;0.983;0.999	P;D;P;P;P;D	0.68943	0.726;0.961;0.693;0.726;0.735;0.961	T	0.58999	-0.7536	10	0.62326	D	0.03	-11.1762	16.5663	0.84599	0.0:0.0:1.0:0.0	.	10;10;10;10;10;10	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	I	10	ENSP00000344595:S10I;ENSP00000307252:S10I;ENSP00000278795:S10I;ENSP00000341775:S10I;ENSP00000368773:S10I	ENSP00000278795:S10I	S	+	2	0	SMOX	4103731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.611000	0.98342	2.572000	0.86782	0.650000	0.86243	AGT		0.607	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		38	134	38	134	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16142274	16142274	+	Silent	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:16142274T>C	ENST00000380289.2	+	1	596	c.198T>C	c.(196-198)tgT>tgC	p.C66C		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	66					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AGATCTTCTGTACAGTCAAGT	0.493											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(196-198)tgT>tgC		gastrin-releasing peptide receptor							237.0	194.0	208.0					X																	16142274		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142274T>C		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.198T>C	X.37:g.16142274T>C			Somatic	OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.C66C	NM_005314.2	NP_005305.1	WXS	Illumina GAIIx	Phase_I	P30550	GRPR_HUMAN			1	596	+	Hepatocellular(33;0.183)		66					B2R910	Silent	SNP	ENST00000380289.2	37	c.198T>C	CCDS14174.1																																																																																				0.493	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		12	57	12	57	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70462164	70462164	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:70462164A>C	ENST00000353904.2	-	23	3845	c.3658T>G	c.(3658-3660)Ttt>Gtt	p.F1220V	ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000373998.1_Missense_Mutation_p.F1208V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1220					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGCAGCCCAAAAAACTTAGTG	0.562																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3622-3624)Ttt>Gtt		zinc finger, MYM-type 3							101.0	65.0	77.0					X																	70462164		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70462164A>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3658T>G	X.37:g.70462164A>C	ENSP00000343909:p.Phe1220Val		Somatic				ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1220V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000489332.1_5'UTR	p.F1208V	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			23	4319	-	Renal(35;0.156)		1220					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3622T>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	a	20.5	4.002284	0.74932	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373988	T;T;T;T	0.62105	0.64;0.05;0.64;0.66	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.75867	0.3908	M	0.66439	2.03	0.46279	D	0.998964	D;D	0.60160	0.984;0.987	D;D	0.71656	0.957;0.974	T	0.79027	-0.1971	10	0.87932	D	0	-9.5028	13.3991	0.60872	1.0:0.0:0.0:0.0	.	1208;1220	Q14202-2;Q14202	.;ZMYM3_HUMAN	V	1220;1208;1220;1222	ENSP00000322845:F1220V;ENSP00000363110:F1208V;ENSP00000343909:F1220V;ENSP00000363100:F1222V	ENSP00000322845:F1220V	F	-	1	0	ZMYM3	70378889	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.672000	0.68102	1.735000	0.51646	0.427000	0.28365	TTT		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		11	6	11	6	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86919798	86919798	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:86919798G>C	ENST00000373119.4	+	10	2105	c.1960G>C	c.(1960-1962)Gca>Cca	p.A654P	KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	654						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACTGTGGCACCTCTGAG	0.418																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1960-1962)Gca>Cca		kelch-like family member 4							199.0	140.0	160.0					X																	86919798		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919798G>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1960G>C	X.37:g.86919798G>C	ENSP00000362211:p.Ala654Pro		Somatic				KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P	p.A654P	NM_019117.4	NP_061990.2	WXS	Illumina GAIIx	Phase_I	Q9C0H6	KLHL4_HUMAN			10	2105	+			654					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1960G>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666007	0.47677	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.73152	-0.72;-0.72	4.19	2.4	0.29515	Galactose oxidase, beta-propeller (1);	0.115040	0.64402	D	0.000012	T	0.75700	0.3885	L	0.46819	1.47	0.42493	D	0.9929	D;D	0.76494	0.996;0.999	D;D	0.74674	0.984;0.98	T	0.73981	-0.3811	10	0.62326	D	0.03	.	8.7072	0.34363	0.1875:0.0:0.8125:0.0	.	654;654	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	P	654	ENSP00000362211:A654P;ENSP00000362206:A654P	ENSP00000362206:A654P	A	+	1	0	KLHL4	86806454	1.000000	0.71417	0.917000	0.36280	0.638000	0.38207	2.068000	0.41471	0.357000	0.24183	0.506000	0.49869	GCA		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			10	7	10	7	---	---	---	---
UBQLN4	56893	broad.mit.edu	37	1	156011291	156011292	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:156011291_156011292insA	ENST00000368309.3	-	10	1729_1730	c.1637_1638insT	c.(1636-1638)ggafs	p.G546fs		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	546					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					AGTTTCCACTTCCAGCCAAAAG	0.569																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1636-1638)ggafs		ubiquilin 4																																				SO:0001589	frameshift_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156011291_156011292insA	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1637_1638insT	1.37:g.156011291_156011292insA	ENSP00000357292:p.Gly546fs		Somatic					p.G546fs	NM_020131.3	NP_064516.2	WXS	Illumina GAIIx	Phase_I	Q9NRR5	UBQL4_HUMAN			10	1729_1730	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		546					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Frame_Shift_Ins	INS	ENST00000368309.3	37	c.1637_1638insT	CCDS1127.1																																																																																				0.569	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		12	29	12	29	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89711886	89711887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:89711886_89711887insC	ENST00000371953.3	+	6	1861_1862	c.504_505insC	c.(505-507)cccfs	p.P169fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	169	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAGTAACTATTCCCAGTCAGAG	0.361		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		57	Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1)	prostate(16)|central_nervous_system(13)|skin(8)|endometrium(4)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(505-507)cccfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711886_89711887insC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.507dupC	10.37:g.89711889_89711889dupC	ENSP00000361021:p.Pro169fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.P169fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1861_1862	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	169			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.504_505insC	CCDS31238.1																																																																																				0.361	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		13	20	13	20	---	---	---	---
OASL	8638	broad.mit.edu	37	12	121476763	121476764	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr12:121476763_121476764insA	ENST00000257570.5	-	1	281_282	c.11_12insT	c.(10-12)atgfs	p.M4fs	OASL_ENST00000339275.5_Frame_Shift_Ins_p.M4fs	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	4					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGTTCCTGCATCAGTGCCAT	0.589																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(10-12)atgfs		2'-5'-oligoadenylate synthetase-like																																				SO:0001589	frameshift_variant	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121476763_121476764insA	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.12dupT	12.37:g.121476764_121476764dupA	ENSP00000257570:p.Met4fs		Somatic				OASL_ENST00000339275.5_Frame_Shift_Ins_p.M4fs	p.M4fs	NM_003733.3	NP_003724.1	WXS	Illumina GAIIx	Phase_I	Q15646	OASL_HUMAN			1	281_282	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		4					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Frame_Shift_Ins	INS	ENST00000257570.5	37	c.11_12insT	CCDS9211.1																																																																																				0.589	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		11	28	11	28	---	---	---	---
