#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HOMEZ	57594	broad.mit.edu	37	14	23746240	23746240	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:23746240C>G	ENST00000357460.5	-	2	361	c.197G>C	c.(196-198)aGc>aCc	p.S66T	HOMEZ_ENST00000431326.2_Missense_Mutation_p.S68T|HOMEZ_ENST00000561013.1_Missense_Mutation_p.S68T	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGTTCATTGCTGTCTAGCTC	0.537																																						ENST00000357460.5																			0				endometrium(5)|lung(7)	12						c.(196-198)aGc>aCc		homeobox and leucine zipper encoding							168.0	164.0	165.0					14																	23746240		2077	4209	6286	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746240C>G	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.197G>C	14.37:g.23746240C>G	ENSP00000350049:p.Ser66Thr					HOMEZ_ENST00000431326.2_Missense_Mutation_p.S68T|HOMEZ_ENST00000561013.1_Missense_Mutation_p.S68T	p.S66T	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	361	-	all_cancers(95;5.54e-06)		66					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.197G>C	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147172	0.06627	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.23348	1.92;1.91	6.17	3.26	0.37387	Homeobox (1);Homeodomain-like (1);	0.872484	0.10229	N	0.699983	T	0.16428	0.0395	N	0.24115	0.695	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.30937	-0.9961	10	0.20046	T	0.44	2.9071	8.0631	0.30644	0.0:0.5874:0.0:0.4126	.	68;66	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	T	66;68	ENSP00000350049:S66T;ENSP00000406579:S68T	ENSP00000350049:S66T	S	-	2	0	HOMEZ	22816080	0.076000	0.21285	0.672000	0.29872	0.986000	0.74619	0.409000	0.21082	0.859000	0.35456	0.655000	0.94253	AGC		0.537	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		18	60	0	0	0	1	0	18	60				
RALGAPA1	253959	broad.mit.edu	37	14	36128374	36128374	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:36128374G>A	ENST00000389698.3	-	27	4229	c.3839C>T	c.(3838-3840)tCg>tTg	p.S1280L	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1280L|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S1327L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1293L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1280					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTCTTGCCGAGCTTAATAC	0.353																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3979-3981)tCg>tTg		Ral GTPase activating protein, alpha subunit 1 (catalytic)							64.0	61.0	62.0					14																	36128374		2202	4300	6502	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36128374G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3839C>T	14.37:g.36128374G>A	ENSP00000374348:p.Ser1280Leu					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1293L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1280L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1280L	p.S1327L			Q6GYQ0	RGPA1_HUMAN			28	4370	-			1280			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3980C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502594	0.96371	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.81	5.81	0.92471	.	0.059343	0.64402	D	0.000001	T	0.74876	0.3774	L	0.58101	1.795	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.995;0.999;0.99	D;P;D;P	0.83275	0.996;0.782;0.932;0.534	T	0.74153	-0.3757	10	0.56958	D	0.05	-11.2172	20.0762	0.97745	0.0:0.0:1.0:0.0	.	1327;1293;1280;1280	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	L	1280;1280;1280;1327;1293;1327	ENSP00000374348:S1280L;ENSP00000302647:S1280L;ENSP00000258840:S1327L;ENSP00000371803:S1293L;ENSP00000451877:S1327L	ENSP00000258840:S1327L	S	-	2	0	RALGAPA1	35198125	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	8.435000	0.90297	2.756000	0.94617	0.655000	0.94253	TCG		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		12	3	0	0	0	1	0	12	3				
IGHV3-13	28449	broad.mit.edu	37	14	106586202	106586202	+	RNA	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:106586202T>C	ENST00000390602.2	-	0	362									immunoglobulin heavy variable 3-13																		TACAAGGAGTTCTTGGCATTT	0.507																																						ENST00000390602.2																			0																				99.0	94.0	96.0					14																	106586202		1897	4116	6013			0							g.chr14:106586202T>C	X92217		14q32.33	2012-02-08			ENSG00000211942	ENSG00000211942		"""Immunoglobulins / IGH locus"""	5581	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152295		14.37:g.106586202T>C														0	362	-									RNA	SNP	ENST00000390602.2	37																																																																																						0.507	IGHV3-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325683.1	NG_001019		25	91	0	0	0	1	0	25	91				
CTNNBL1	56259	broad.mit.edu	37	20	36488358	36488358	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:36488358C>T	ENST00000361383.6	+	14	1567	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R232W|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.R457W|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R297W	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	484					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTCTACCTCCGGCGCCTGGA	0.537																																					Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(1369-1371)Cgg>Tgg		catenin, beta like 1							52.0	49.0	50.0					20																	36488358		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36488358C>T	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1450C>T	20.37:g.36488358C>T	ENSP00000355050:p.Arg484Trp					CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R297W|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R484W|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R232W	p.R457W			Q8WYA6	CTBL1_HUMAN			15	1612	+		Myeloproliferative disorder(115;0.00878)	484					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1369C>T	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201021	0.94997	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.50548	0.74;0.74;0.76;0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.64595	0.677;0.927	T	0.78290	-0.2261	10	0.87932	D	0	-17.015	17.9128	0.88939	0.0:1.0:0.0:0.0	.	484;297	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	W	484;457;297;232	ENSP00000355050:R484W;ENSP00000384355:R457W;ENSP00000362572:R297W;ENSP00000362568:R232W	ENSP00000355050:R484W	R	+	1	2	CTNNBL1	35921772	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.721000	0.61951	2.463000	0.83235	0.561000	0.74099	CGG		0.537	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		30	16	0	0	0	1	0	30	16				
OR2M2	391194	broad.mit.edu	37	1	248344089	248344089	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:248344089C>G	ENST00000359682.2	+	1	802	c.802C>G	c.(802-804)Cca>Gca	p.P268A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGATCACTCCCCAACGCAGGA	0.502																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(802-804)Cca>Gca		olfactory receptor, family 2, subfamily M, member 2							216.0	192.0	200.0					1																	248344089		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344089C>G	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.802C>G	1.37:g.248344089C>G	ENSP00000352710:p.Pro268Ala						p.P268A	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	802	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		268					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.802C>G	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	3.268	-0.149688	0.06585	.	.	ENSG00000198601	ENST00000359682	T	0.00193	8.58	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.35793	1.09	0.09310	N	1	B	0.22541	0.071	B	0.33690	0.168	T	0.27606	-1.0069	9	0.49607	T	0.09	.	1.073	0.01626	0.1348:0.239:0.2703:0.3559	.	268	Q96R28	OR2M2_HUMAN	A	268	ENSP00000352710:P268A	ENSP00000352710:P268A	P	+	1	0	OR2M2	246410712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.722000	0.00102	-1.415000	0.02022	-1.573000	0.00871	CCA		0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		101	138	0	0	0	1	0	101	138				
MT-CO3	4514	broad.mit.edu	37	M	9948	9948	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chrM:9948G>A	ENST00000362079.2	+	1	742	c.742G>A	c.(742-744)Gtt>Att	p.V248I	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	248					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						TTGTAGATGTGGTTTGACTAT	0.383																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(742-744)Gtt>Att		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9948G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.742G>A	M.37:g.9948G>A	ENSP00000354982:p.Val248Ile						p.248_248insI							1	742	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.742G>A																																																																																					0.383	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		12	49	0	0	0	1	0	12	49				
FAM50B	26240	broad.mit.edu	37	6	3850736	3850736	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:3850736G>A	ENST00000380274.1	+	1	1117	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	FAM50B_ENST00000380272.3_Missense_Mutation_p.G231S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	231						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCGCTCCGCCGGCGTGGAGCA	0.657																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(691-693)Ggc>Agc		family with sequence similarity 50, member B							54.0	50.0	52.0					6																	3850736		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850736G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.691G>A	6.37:g.3850736G>A	ENSP00000369627:p.Gly231Ser					FAM50B_ENST00000380272.3_Missense_Mutation_p.G231S	p.G231S			Q9Y247	FA50B_HUMAN			1	1117	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	231					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.691G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	3.595	-0.082736	0.07141	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	1.58	0.23477	.	0.058355	0.64402	D	0.000002	T	0.09247	0.0228	N	0.11651	0.15	0.39088	D	0.961046	B	0.18610	0.029	B	0.14578	0.011	T	0.34675	-0.9819	9	0.02654	T	1	-27.9402	7.9166	0.29822	0.2806:0.0:0.7194:0.0	.	231	Q9Y247	FA50B_HUMAN	S	231	.	ENSP00000369625:G231S	G	+	1	0	FAM50B	3795735	0.999000	0.42202	0.205000	0.23548	0.990000	0.78478	2.940000	0.49003	0.219000	0.20840	0.555000	0.69702	GGC		0.657	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		85	77	0	0	0	1	0	85	77				
CP	1356	broad.mit.edu	37	3	148916171	148916171	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:148916171G>T	ENST00000264613.6	-	9	1958	c.1696C>A	c.(1696-1698)Cat>Aat	p.H566N	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	566	F5/8 type A 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTTGCATGTAAACTTCCT	0.353																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1696-1698)Cat>Aat		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						91.0	85.0	87.0					3																	148916171		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148916171G>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1696C>A	3.37:g.148916171G>T	ENSP00000264613:p.His566Asn					CP_ENST00000462336.1_5'UTR	p.H566N	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1958	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	566			F5/8 type A 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1696C>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	3.504	-0.101108	0.06967	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98531	-4.98;-4.98	5.46	2.45	0.29901	Cupredoxin (2);	0.748493	0.12540	N	0.459977	D	0.89515	0.6737	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.16396	0.004;0.008;0.004;0.017	B;B;B;B	0.17979	0.02;0.02;0.02;0.02	T	0.82076	-0.0636	10	0.11794	T	0.64	-2.6697	11.3177	0.49401	0.0:0.2485:0.6238:0.1278	.	566;566;566;566	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	N	566;349	ENSP00000264613:H566N;ENSP00000420545:H349N	ENSP00000264613:H566N	H	-	1	0	CP	150398861	0.000000	0.05858	0.953000	0.39169	0.996000	0.88848	0.058000	0.14301	1.252000	0.44001	0.650000	0.86243	CAT		0.353	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	48	1	0	2.0095e-06	1	2.12599e-06	6	48				
TMPRSS11F	389208	broad.mit.edu	37	4	68956262	68956262	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:68956262C>G	ENST00000356291.2	-	3	320	c.261G>C	c.(259-261)agG>agC	p.R87S		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	87	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCTGATGACTCCTTTCTATAA	0.294																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(259-261)agG>agC		transmembrane protease, serine 11F							73.0	75.0	74.0					4																	68956262		2203	4296	6499	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68956262C>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.261G>C	4.37:g.68956262C>G	ENSP00000348639:p.Arg87Ser						p.R87S	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			3	320	-			87			SEA.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.261G>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487506	0.26686	.	.	ENSG00000198092	ENST00000356291	T	0.38240	1.15	5.56	-4.47	0.03525	SEA (3);	0.000000	0.64402	D	0.000017	T	0.32645	0.0836	L	0.57536	1.79	0.30715	N	0.748916	P	0.35468	0.503	B	0.37833	0.259	T	0.36601	-0.9741	10	0.87932	D	0	.	13.506	0.61483	0.0:0.2498:0.0:0.7502	.	87	Q6ZWK6	TM11F_HUMAN	S	87	ENSP00000348639:R87S	ENSP00000348639:R87S	R	-	3	2	TMPRSS11F	68638857	0.872000	0.30054	0.916000	0.36221	0.276000	0.26787	-0.534000	0.06150	-0.968000	0.03578	-0.806000	0.03193	AGG		0.294	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		4	18	0	0	0	1	0	4	18				
NCKAP1	10787	broad.mit.edu	37	2	183866921	183866921	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:183866921C>G	ENST00000361354.4	-	5	818	c.446G>C	c.(445-447)cGa>cCa	p.R149P	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R155P	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	149					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R155Q(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTTCAATTCGAGACAGCAG	0.313																																						ENST00000360982.2																			1	Substitution - Missense(1)	p.R155Q(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(463-465)cGa>cCa		NCK-associated protein 1							115.0	116.0	116.0					2																	183866921		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183866921C>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.446G>C	2.37:g.183866921C>G	ENSP00000355348:p.Arg149Pro					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R149P	p.R155P	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		6	1222	-			149					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.464G>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348601	0.82132	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.39787	1.06;1.06	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.87547	2.89	0.80722	D	1	D;D	0.65815	0.989;0.995	D;P	0.66084	0.941;0.902	T	0.74785	-0.3547	10	0.72032	D	0.01	-7.3816	19.6582	0.95853	0.0:1.0:0.0:0.0	.	149;155	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	P	149;155	ENSP00000355348:R149P;ENSP00000354251:R155P	ENSP00000354251:R155P	R	-	2	0	NCKAP1	183575166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	2.725000	0.93324	0.655000	0.94253	CGA		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		5	35	0	0	0	1	0	5	35				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	18	0	0	0	1	0	5	18				
TOR3A	64222	broad.mit.edu	37	1	179064258	179064258	+	Missense_Mutation	SNP	G	G	T	rs78309022		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:179064258G>T	ENST00000367627.3	+	6	1851	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	367					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGATGAAATAGCCCAGATGAT	0.512																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1099-1101)Gcc>Tcc		torsin family 3, member A							176.0	170.0	172.0					1																	179064258		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064258G>T	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1099G>T	1.37:g.179064258G>T	ENSP00000356599:p.Ala367Ser					TOR3A_ENST00000352445.6_Intron	p.A367S	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			6	1851	+			367					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1099G>T	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092262	0.76756	.	.	ENSG00000186283	ENST00000367627	T	0.65364	-0.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85606	0.1255	10	0.59425	D	0.04	-27.0947	19.2867	0.94077	0.0:0.0:1.0:0.0	.	367	Q9H497	TOR3A_HUMAN	S	367	ENSP00000356599:A367S	ENSP00000356599:A367S	A	+	1	0	TOR3A	177330881	1.000000	0.71417	0.815000	0.32552	0.071000	0.16799	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GCC		0.512	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		5	231	1	0	1.23904e-05	1	1.29214e-05	5	231				
LINC01410	103352539	broad.mit.edu	37	9	66458014	66458014	+	lincRNA	SNP	T	T	C	rs75891239		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr9:66458014T>C	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							GGTGCTGCAGTGGCGGATCTT	0.721																																						ENST00000424345.1																			0																																																			0							g.chr9:66458014T>C																													9.37:g.66458014T>C														0	67	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.721	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			5	12	0	0	0	1	0	5	12				
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.H284R(1)	endometrium(1)																																																0							g.chr3:75475639T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475639T>C								NR_024241.1						0	890	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.662	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	10	0	0	0	1	0	3	10				
HDX	139324	broad.mit.edu	37	X	83724416	83724416	+	Silent	SNP	G	G	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chrX:83724416G>T	ENST00000297977.5	-	3	426	c.315C>A	c.(313-315)gtC>gtA	p.V105V	HDX_ENST00000373177.2_Silent_p.V105V|HDX_ENST00000506585.2_Silent_p.V47V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	105						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAGTTACAATGACATCATTAT	0.413																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(313-315)gtC>gtA		highly divergent homeobox							172.0	147.0	156.0					X																	83724416		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724416G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.315C>A	X.37:g.83724416G>T						HDX_ENST00000506585.2_Silent_p.V47V|HDX_ENST00000373177.2_Silent_p.V105V	p.V105V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	426	-			105					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.315C>A	CCDS35342.1																																																																																				0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		22	9	1	0	2.37509e-13	1	2.66741e-13	22	9				
STXBP5L	9515	broad.mit.edu	37	3	121100275	121100275	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:121100275G>T	ENST00000273666.6	+	23	2826	c.2555G>T	c.(2554-2556)tGt>tTt	p.C852F	STXBP5L_ENST00000497029.1_Missense_Mutation_p.C826F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.C828F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.C852F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.C828F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	852					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCTCTCCTTGTCTGTTCGTT	0.408																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2554-2556)tGt>tTt		syntaxin binding protein 5-like							188.0	177.0	181.0					3																	121100275		1897	4124	6021	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121100275G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2555G>T	3.37:g.121100275G>T	ENSP00000273666:p.Cys852Phe					STXBP5L_ENST00000492541.1_Missense_Mutation_p.C852F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.C826F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.C828F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.C828F	p.C852F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	23	2826	+			852					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2555G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647006	0.87958	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.1	5.1	0.69264	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.82923	2.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.73911	-0.3833	10	0.87932	D	0	-14.623	18.7084	0.91646	0.0:0.0:1.0:0.0	.	828;852	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	F	852;828;828;826;852;795	ENSP00000273666:C852F;ENSP00000420019:C828F;ENSP00000419627:C828F;ENSP00000420287:C826F;ENSP00000420666:C852F;ENSP00000420167:C795F	ENSP00000273666:C852F	C	+	2	0	STXBP5L	122582965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.369000	0.97156	2.660000	0.90430	0.650000	0.86243	TGT		0.408	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			55	83	1	0	2.30037e-20	1	2.7529e-20	55	83				
ITGB4	3691	broad.mit.edu	37	17	73732658	73732658	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:73732658C>T	ENST00000200181.3	+	16	2060	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	ITGB4_ENST00000450894.3_Missense_Mutation_p.L625F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L625F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.L625F|ITGB4_ENST00000339591.3_Missense_Mutation_p.L625F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	625				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). {ECO:0000305}.	amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCCGGGCCTCTGCGAGGA	0.657																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1873-1875)Ctc>Ttc		integrin, beta 4							40.0	37.0	38.0					17																	73732658		2202	4298	6500	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73732658C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1873C>T	17.37:g.73732658C>T	ENSP00000200181:p.Leu625Phe					ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.L625F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L625F|ITGB4_ENST00000579662.1_Missense_Mutation_p.L625F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L625F	p.L625F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		16	2060	+	all_cancers(13;1.5e-07)		625	IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).				A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1873C>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681453	0.14907	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92752	-3.1;-3.1;-3.1	4.64	3.58	0.41010	Integrin beta subunit, tail (1);	0.342879	0.27126	N	0.020815	D	0.89160	0.6636	L	0.36672	1.1	0.27968	N	0.936528	P;P;P;P;P	0.48503	0.82;0.82;0.887;0.813;0.911	B;B;P;B;B	0.45232	0.372;0.333;0.474;0.372;0.372	D	0.85289	0.1066	10	0.59425	D	0.04	.	15.0532	0.71891	0.0:0.7484:0.2516:0.0	.	585;625;625;625;625	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	F	541;625;625;625	ENSP00000200181:L625F;ENSP00000344079:L625F;ENSP00000400217:L625F	ENSP00000200181:L625F	L	+	1	0	ITGB4	71244253	0.812000	0.29077	1.000000	0.80357	0.306000	0.27790	0.981000	0.29526	2.098000	0.63641	0.563000	0.77884	CTC		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			12	42	0	0	0	1	0	12	42				
PI4KB	5298	broad.mit.edu	37	1	151271532	151271532	+	Missense_Mutation	SNP	C	C	A	rs587716849		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:151271532C>A	ENST00000368873.1	-	9	1935	c.1767G>T	c.(1765-1767)gaG>gaT	p.E589D	PI4KB_ENST00000529142.1_Missense_Mutation_p.E257D|PI4KB_ENST00000368875.2_Missense_Mutation_p.E601D|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000368874.4_Missense_Mutation_p.E574D|PI4KB_ENST00000368872.1_Missense_Mutation_p.E574D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E601D			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	589	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGCACTCGCTCCTGTTCCC	0.473																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1801-1803)gaG>gaT		phosphatidylinositol 4-kinase, catalytic, beta							89.0	82.0	84.0					1																	151271532		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151271532C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1767G>T	1.37:g.151271532C>A	ENSP00000357867:p.Glu589Asp					PI4KB_ENST00000368872.1_Missense_Mutation_p.E574D|PI4KB_ENST00000368873.1_Missense_Mutation_p.E589D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E574D|PI4KB_ENST00000529142.1_Missense_Mutation_p.E257D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E601D	p.E601D	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		10	2383	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		589			PI3K/PI4K.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1803G>T		.	.	.	.	.	.	.	.	.	.	C	24.2	4.500803	0.85176	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.98	2.77	0.32553	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.047466	0.85682	D	0.000000	T	0.82006	0.4943	M	0.77820	2.39	0.80722	D	1	P;D;D	0.89917	0.947;1.0;1.0	P;D;D	0.85130	0.823;0.997;0.997	T	0.82904	-0.0226	10	0.66056	D	0.02	-19.7071	9.4239	0.38567	0.0:0.7384:0.0:0.2616	.	589;574;257	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	D	574;601;601;589;257;574	ENSP00000357868:E574D;ENSP00000357869:E601D;ENSP00000271657:E601D;ENSP00000357867:E589D;ENSP00000433149:E257D;ENSP00000357866:E574D	ENSP00000271657:E601D	E	-	3	2	PI4KB	149538156	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.436000	0.21526	0.693000	0.31634	0.650000	0.86243	GAG		0.473	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		31	87	1	0	1.88708e-17	1	2.22189e-17	31	87				
SI	6476	broad.mit.edu	37	3	164741472	164741472	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:164741472T>C	ENST00000264382.3	-	26	3047	c.2985A>G	c.(2983-2985)atA>atG	p.I995M		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	995	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGTCAGCTGTTATACCCATGG	0.403										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2983-2985)atA>atG		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						135.0	128.0	131.0					3																	164741472		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741472T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2985A>G	3.37:g.164741472T>C	ENSP00000264382:p.Ile995Met	HNSCC(35;0.089)					p.I995M	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			26	3047	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	995			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2985A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	7.993	0.753807	0.15778	.	.	ENSG00000090402	ENST00000264382	D	0.85702	-2.02	5.53	-1.66	0.08265	Glycoside hydrolase-type carbohydrate-binding (1);	0.815275	0.11189	N	0.590110	T	0.74230	0.3689	L	0.42581	1.335	0.09310	N	1	B	0.18863	0.031	B	0.19391	0.025	T	0.59096	-0.7518	10	0.35671	T	0.21	.	2.5407	0.04725	0.1146:0.1306:0.3174:0.4374	.	995	P14410	SUIS_HUMAN	M	995	ENSP00000264382:I995M	ENSP00000264382:I995M	I	-	3	3	SI	166224166	0.363000	0.24989	0.104000	0.21259	0.033000	0.12548	-0.610000	0.05629	-0.075000	0.12798	-0.438000	0.05819	ATA		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	61	0	0	0	1	0	7	61				
MUC4	4585	broad.mit.edu	37	3	195511839	195511839	+	Silent	SNP	A	A	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:195511839A>T	ENST00000463781.3	-	2	7071	c.6612T>A	c.(6610-6612)ggT>ggA	p.G2204G	MUC4_ENST00000475231.1_Silent_p.G2204G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	993					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCCTGACCTGTGGATG	0.597																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6610-6612)ggT>ggA		mucin 4, cell surface associated							26.0	22.0	24.0					3																	195511839		688	1588	2276	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511839A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6612T>A	3.37:g.195511839A>T						MUC4_ENST00000475231.1_Silent_p.G2204G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.G2204G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7071	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	993					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6612T>A	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	18	0	0	0	1	0	3	18				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	12	0	0	0	1	0	4	12				
HNRNPL	3191	broad.mit.edu	37	19	39330769	39330769	+	Silent	SNP	G	G	A	rs267605470		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr19:39330769G>A	ENST00000221419.5	-	8	1566	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	HNRNPL_ENST00000600873.1_Silent_p.F267F|AC104534.3_ENST00000594769.1_Missense_Mutation_p.S17L	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	400	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.F267F(1)|p.F400F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGAAGACATTGAAGACTCGGT	0.577																																						ENST00000594769.1																			2	Substitution - coding silent(2)	p.F267F(1)|p.F400F(1)	lung(2)								c.(49-51)tCa>tTa									48.0	52.0	51.0					19																	39330769		2185	4269	6454	SO:0001819	synonymous_variant	0							g.chr19:39330769G>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1200C>T	19.37:g.39330769G>A						HNRNPL_ENST00000600873.1_Silent_p.F267F|HNRNPL_ENST00000221419.5_Silent_p.F400F	p.S17L							1	49	-								A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.50C>T	CCDS33015.1																																																																																				0.577	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			44	9	0	0	0	1	0	44	9				
MMS22L	253714	broad.mit.edu	37	6	97681791	97681791	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:97681791C>A	ENST00000275053.4	-	12	1513	c.1248G>T	c.(1246-1248)tgG>tgT	p.W416C	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	416					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTTTGGCTCCCAGAAATCAC	0.323																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1246-1248)tgG>tgT		MMS22-like, DNA repair protein							91.0	92.0	92.0					6																	97681791		2202	4299	6501	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97681791C>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1248G>T	6.37:g.97681791C>A	ENSP00000275053:p.Trp416Cys					MMS22L_ENST00000369251.2_Intron	p.W416C	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			12	1513	-			416					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1248G>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513109	0.85389	.	.	ENSG00000146263	ENST00000275053;ENST00000510018	T;T	0.38401	1.14;1.14	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62402	-0.6862	10	0.87932	D	0	-6.2304	19.5153	0.95160	0.0:1.0:0.0:0.0	.	416	Q6ZRQ5	MMS22_HUMAN	C	416;304	ENSP00000275053:W416C;ENSP00000427288:W304C	ENSP00000275053:W416C	W	-	3	0	MMS22L	97788512	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.737000	0.74816	2.686000	0.91538	0.655000	0.94253	TGG		0.323	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		28	20	1	0	5.61819e-17	1	6.50996e-17	28	20				
AMPH	273	broad.mit.edu	37	7	38457436	38457436	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:38457436C>G	ENST00000356264.2	-	17	1602	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	AMPH_ENST00000471913.1_Intron|AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	463					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTGCCTCCTCCACTGGCTCC	0.602																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1387-1389)Gag>Cag		amphiphysin							125.0	99.0	108.0					7																	38457436		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38457436C>G		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1387G>C	7.37:g.38457436C>G	ENSP00000348602:p.Glu463Gln					AMPH_ENST00000428293.2_Intron|AMPH_ENST00000471913.1_Intron|AMPH_ENST00000325590.5_Intron	p.E463Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			17	1602	-			463					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1387G>C	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399087	0.42512	.	.	ENSG00000078053	ENST00000356264	T	0.61158	0.13	5.01	4.09	0.47781	.	.	.	.	.	T	0.36963	0.0986	N	0.08118	0	0.80722	D	1	B	0.24721	0.11	B	0.16722	0.016	T	0.27839	-1.0062	9	0.41790	T	0.15	-2.7857	13.7411	0.62849	0.0:0.8467:0.1533:0.0	.	463	P49418	AMPH_HUMAN	Q	463	ENSP00000348602:E463Q	ENSP00000348602:E463Q	E	-	1	0	AMPH	38423961	0.847000	0.29606	0.990000	0.47175	0.929000	0.56500	1.153000	0.31676	2.315000	0.78130	0.609000	0.83330	GAG		0.602	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		26	30	0	0	0	1	0	26	30				
OR5H2	79310	broad.mit.edu	37	3	98002239	98002239	+	Silent	SNP	A	A	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:98002239A>C	ENST00000355273.2	+	1	508	c.508A>C	c.(508-510)Aga>Cga	p.R170R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTTATATTCAGATTAACCTT	0.328																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(508-510)Aga>Cga		olfactory receptor, family 5, subfamily H, member 2							96.0	93.0	94.0					3																	98002239		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002239A>C		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.508A>C	3.37:g.98002239A>C						RP11-325B23.2_ENST00000508616.1_lincRNA	p.R170R	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	508	+			170					Q6IF87	Silent	SNP	ENST00000355273.2	37	c.508A>C	CCDS33801.1																																																																																				0.328	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			25	60	0	0	0	1	0	25	60				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658188	72658188	+	RNA	SNP	T	T	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:72658188T>G	ENST00000425256.1	-	0	1723									GTF2I repeat domain containing 2 pseudogene 1																		ttcggatgaattatacaacag	0.512																																						ENST00000425256.1																			0																																																			0							g.chr7:72658188T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658188T>G								NR_002164.1						0	1723	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.512	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		73	99	0	0	0	1	0	73	99				
KIF21A	55605	broad.mit.edu	37	12	39735322	39735322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:39735322C>A	ENST00000361418.5	-	14	1921	c.1906G>T	c.(1906-1908)Gaa>Taa	p.E636*	KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E623*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.E636*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E623*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	636					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCATCTGATTCAGAATCTGAT	0.388																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1906-1908)Gaa>Taa		kinesin family member 21A							117.0	114.0	115.0					12																	39735322		2203	4300	6503	SO:0001587	stop_gained	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735322C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1906G>T	12.37:g.39735322C>A	ENSP00000354878:p.Glu636*					KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E636*	p.E636*			Q7Z4S6	KI21A_HUMAN			14	2325	-		Lung NSC(34;0.179)|all_lung(34;0.213)	636					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	c.1906G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	41	8.547841	0.98859	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.	.	.	5.68	5.68	0.88126	.	0.122142	0.36167	N	0.002754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.7873	0.96444	0.0:1.0:0.0:0.0	.	.	.	.	X	623;636;636;623;636;623	.	ENSP00000344501:E636X	E	-	1	0	KIF21A	38021589	1.000000	0.71417	0.890000	0.34922	0.867000	0.49689	6.779000	0.75057	2.673000	0.90976	0.655000	0.94253	GAA		0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		17	19	1	0	3.41278e-10	1	3.7184e-10	17	19				
NEB	4703	broad.mit.edu	37	2	152432754	152432754	+	Missense_Mutation	SNP	G	G	A	rs368167657		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:152432754G>A	ENST00000172853.10	-	78	11863	c.11716C>T	c.(11716-11718)Cgg>Tgg	p.R3906W	NEB_ENST00000427231.2_Missense_Mutation_p.R5607W|NEB_ENST00000603639.1_Missense_Mutation_p.R5607W|NEB_ENST00000409198.1_Missense_Mutation_p.R3906W|NEB_ENST00000397345.3_Missense_Mutation_p.R5607W|NEB_ENST00000604864.1_Missense_Mutation_p.R5607W			P20929	NEBU_HUMAN	nebulin	3906					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAGGCGTCCGATAGACACTG	0.448																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(16819-16821)Cgg>Tgg		nebulin		G	TRP/ARG,TRP/ARG,TRP/ARG	0,3788		0,0,1894	75.0	78.0	77.0		16819,16819,11716	4.0	1.0	2		77	1,8241		0,1,4120	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	101,101,101	0,1,6014	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging	5607/8526,5607/8526,3906/6670	152432754	1,12029	1894	4121	6015	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152432754G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11716C>T	2.37:g.152432754G>A	ENSP00000172853:p.Arg3906Trp					NEB_ENST00000409198.1_Missense_Mutation_p.R3906W|NEB_ENST00000172853.10_Missense_Mutation_p.R3906W|NEB_ENST00000427231.2_Missense_Mutation_p.R5607W|NEB_ENST00000603639.1_Missense_Mutation_p.R5607W|NEB_ENST00000604864.1_Missense_Mutation_p.R5607W	p.R5607W	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	106	17021	-			5618					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.16819C>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.250405	0.80024	0.0	1.21E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853	T;T;T;T;T	0.19532	2.49;2.66;2.66;2.14;2.48	5.9	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.58092	-0.7697	10	0.87932	D	0	.	15.3625	0.74492	0.0:0.0:0.7461:0.2539	.	3906;337	P20929;Q14215	NEBU_HUMAN;.	W	3906;5607;5607;337;3906	ENSP00000386259:R3906W;ENSP00000380505:R5607W;ENSP00000416578:R5607W;ENSP00000410961:R337W;ENSP00000172853:R3906W	ENSP00000172853:R3906W	R	-	1	2	NEB	152141000	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.349000	0.66010	1.469000	0.48083	0.563000	0.77884	CGG		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		51	25	0	0	0	1	0	51	25				
NCK1	4690	broad.mit.edu	37	3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:136667191C>T	ENST00000481752.1	+	4	1194	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000469404.1_Missense_Mutation_p.R280C			P16333	NCK1_HUMAN	NCK adaptor protein 1	344	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(838-840)Cgt>Tgt		NCK adaptor protein 1							97.0	93.0	94.0					3																	136667191		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136667191C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.1030C>T	3.37:g.136667191C>T	ENSP00000417273:p.Arg344Cys					NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.R344C	p.R280C	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN			3	929	+			344					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.838C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198929	0.79015	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.81	4.93	0.64822	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87097	2.86	0.80722	D	1	D;P	0.53151	0.958;0.939	P;P	0.50537	0.635;0.643	T	0.79279	-0.1869	10	0.87932	D	0	.	13.1657	0.59569	0.0:0.9208:0.0:0.0792	.	280;344	B7Z751;P16333	.;NCK1_HUMAN	C	344;344;280;147	ENSP00000288986:R344C;ENSP00000417273:R344C;ENSP00000419631:R280C;ENSP00000418060:R147C	ENSP00000288986:R344C	R	+	1	0	NCK1	138149881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	2.756000	0.94617	0.655000	0.94253	CGT		0.348	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		19	32	0	0	0	1	0	19	32				
RNASEH2B	79621	broad.mit.edu	37	13	51530513	51530513	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:51530513C>T	ENST00000336617.3	+	11	1241	c.842C>T	c.(841-843)gCa>gTa	p.A281V	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	281					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AAAATGACTGCAGCTCAGAAG	0.289																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(841-843)gCa>gTa		ribonuclease H2, subunit B							33.0	35.0	34.0					13																	51530513		2199	4296	6495	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530513C>T	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.842C>T	13.37:g.51530513C>T	ENSP00000337623:p.Ala281Val					RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	p.A281V	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1241	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	281					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.842C>T	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982439	0.93044	.	.	ENSG00000136104	ENST00000336617;ENST00000539292	D	0.96491	-4.03	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.97412	1.0003	10	0.33940	T	0.23	-17.2736	17.3475	0.87313	0.0:1.0:0.0:0.0	.	281	Q5TBB1	RNH2B_HUMAN	V	281	ENSP00000337623:A281V	ENSP00000337623:A281V	A	+	2	0	RNASEH2B	50428514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.743000	0.68655	2.871000	0.98454	0.655000	0.94253	GCA		0.289	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		4	1	0	0	0	1	0	4	1				
OR2T4	127074	broad.mit.edu	37	1	248525481	248525481	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:248525481T>C	ENST00000366475.1	+	1	599	c.599T>C	c.(598-600)tTc>tCc	p.F200S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTCCCCTTCCGTGGATCC	0.493																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(598-600)tTc>tCc		olfactory receptor, family 2, subfamily T, member 4							216.0	197.0	203.0					1																	248525481		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525481T>C	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.599T>C	1.37:g.248525481T>C	ENSP00000355431:p.Phe200Ser						p.F200S	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	599	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		200					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.599T>C	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952939	0.34471	.	.	ENSG00000196944	ENST00000366475	T	0.00202	8.56	3.61	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000170	T	0.00580	0.0019	M	0.93241	3.395	0.26258	N	0.978618	D	0.71674	0.998	D	0.74674	0.984	T	0.40776	-0.9545	10	0.72032	D	0.01	.	5.0722	0.14613	0.1591:0.0942:0.0:0.7467	.	200	Q8NH00	OR2T4_HUMAN	S	200	ENSP00000355431:F200S	ENSP00000355431:F200S	F	+	2	0	OR2T4	246592104	0.003000	0.15002	0.175000	0.22980	0.315000	0.28087	-0.047000	0.11963	0.291000	0.22468	0.477000	0.44152	TTC		0.493	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		65	183	0	0	0	1	0	65	183				
HEPHL1	341208	broad.mit.edu	37	11	93797646	93797646	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr11:93797646G>A	ENST00000315765.9	+	4	786	c.778G>A	c.(778-780)Gct>Act	p.A260T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	260	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAAGAAAGATGCTGTTTTCCA	0.378																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(778-780)Gct>Act		hephaestin-like 1							114.0	102.0	106.0					11																	93797646		1870	4100	5970	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93797646G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.778G>A	11.37:g.93797646G>A	ENSP00000313699:p.Ala260Thr						p.A260T	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			4	786	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	260			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.778G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019294	0.54576	.	.	ENSG00000181333	ENST00000315765	D	0.99793	-6.77	4.98	4.98	0.66077	Cupredoxin (2);	0.260967	0.36555	N	0.002531	D	0.99058	0.9677	L	0.47016	1.485	0.31963	N	0.608169	B	0.29232	0.238	B	0.33196	0.159	D	0.99986	1.3221	10	0.21014	T	0.42	.	18.2757	0.90083	0.0:0.0:1.0:0.0	.	260	Q6MZM0	HPHL1_HUMAN	T	260	ENSP00000313699:A260T	ENSP00000313699:A260T	A	+	1	0	HEPHL1	93437294	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.825000	0.55730	2.314000	0.78098	0.655000	0.94253	GCT		0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		21	3	0	0	0	1	0	21	3				
ZC3H13	23091	broad.mit.edu	37	13	46553965	46553965	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:46553965C>T	ENST00000242848.4	-	11	2243	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	632	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTGTTGTCACGACGGTCTCG	0.373																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1894-1896)cGt>cAt		zinc finger CCCH-type containing 13							153.0	144.0	147.0					13																	46553965		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46553965C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1895G>A	13.37:g.46553965C>T	ENSP00000242848:p.Arg632His					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H	p.R632H			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2243	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	632			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1895G>A		.	.	.	.	.	.	.	.	.	.	C	16.56	3.157907	0.57368	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.34859	2.36;1.34	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	T	0.53222	0.1783	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.29640	-1.0005	10	0.32370	T	0.25	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	632;632	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	632;632;448	ENSP00000242848:R632H;ENSP00000282007:R632H	ENSP00000242848:R632H	R	-	2	0	ZC3H13	45451966	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.104000	0.71498	2.937000	0.99478	0.650000	0.86243	CGT		0.373	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		16	103	0	0	0	1	0	16	103				
DSCAM	1826	broad.mit.edu	37	21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	213	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(637-639)Gcc>Acc		Down syndrome cell adhesion molecule							86.0	87.0	87.0					21																	41741044		1926	4138	6064	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741044C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.637G>A	21.37:g.41741044C>T	ENSP00000383303:p.Ala213Thr						p.A213T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			4	1114	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	213			Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.637G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626471	0.96671	.	.	ENSG00000171587	ENST00000400454	T	0.12255	2.7	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.74546	2.27	0.53688	D	0.999971	D	0.89917	1.0	D	0.69654	0.965	T	0.02417	-1.1162	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	213	O60469	DSCAM_HUMAN	T	213	ENSP00000383303:A213T	ENSP00000383303:A213T	A	-	1	0	DSCAM	40662914	1.000000	0.71417	0.769000	0.31535	0.950000	0.60333	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GCC		0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		28	38	0	0	0	1	0	28	38				
SDK1	221935	broad.mit.edu	37	7	4119118	4119118	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:4119118C>A	ENST00000404826.2	+	22	3365	c.3226C>A	c.(3226-3228)Ctg>Atg	p.L1076M	SDK1_ENST00000389531.3_Missense_Mutation_p.L1076M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1076	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCATCCAACCTGGTCATTTC	0.547																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3226-3228)Ctg>Atg		sidekick cell adhesion molecule 1							192.0	183.0	186.0					7																	4119118		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4119118C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3226C>A	7.37:g.4119118C>A	ENSP00000385899:p.Leu1076Met					SDK1_ENST00000389531.3_Missense_Mutation_p.L1076M	p.L1076M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	22	3365	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1076			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3226C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458577	0.63401	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.65178	-0.14;-0.14	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000050	T	0.80864	0.4705	M	0.91406	3.205	0.45366	D	0.998359	B;D	0.55605	0.443;0.972	B;P	0.61874	0.302;0.895	D	0.84756	0.0759	10	0.66056	D	0.02	.	12.8772	0.57998	0.0:0.9216:0.0:0.0784	.	1076;1076	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1076	ENSP00000385899:L1076M;ENSP00000374182:L1076M	ENSP00000374182:L1076M	L	+	1	2	SDK1	4085644	0.434000	0.25570	0.995000	0.50966	0.904000	0.53231	1.004000	0.29822	2.359000	0.80004	0.655000	0.94253	CTG		0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		90	20	1	0	1.11079e-38	1	1.35147e-38	90	20				
KLF5	688	broad.mit.edu	37	13	73636638	73636638	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:73636638C>T	ENST00000377687.4	+	2	1437	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P210S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	301			P -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P301S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTTACTTTCCCCCGTCACC	0.512																																						ENST00000377687.4																			1	Substitution - Missense(1)	p.P301S(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(901-903)Ccc>Tcc		Kruppel-like factor 5 (intestinal)							123.0	101.0	108.0					13																	73636638		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636638C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.901C>T	13.37:g.73636638C>T	ENSP00000366915:p.Pro301Ser					KLF5_ENST00000539231.1_Missense_Mutation_p.P210S|KLF5_ENST00000477333.1_3'UTR	p.P301S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1437	+		Prostate(6;0.00187)|Breast(118;0.0735)	301		P -> S (in a colorectal cancer sample; somatic mutation).			L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.901C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991245	0.74703	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.10668	3.05;2.85	5.92	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.05733	-1.0867	10	0.59425	D	0.04	.	15.2891	0.73852	0.0:0.9328:0.0:0.0672	.	301	Q13887	KLF5_HUMAN	S	210;301;281	ENSP00000440407:P210S;ENSP00000366915:P301S	ENSP00000366915:P301S	P	+	1	0	KLF5	72534639	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.338000	0.79269	1.503000	0.48686	0.555000	0.69702	CCC		0.512	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			28	19	0	0	0	1	0	28	19				
ZC3H3	23144	broad.mit.edu	37	8	144620650	144620650	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr8:144620650G>A	ENST00000262577.5	-	2	918	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	296					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACAACCAGCGAGGCCTCCCG	0.627																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(886-888)tCg>tTg		zinc finger CCCH-type containing 3							74.0	83.0	80.0					8																	144620650		2203	4300	6503	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620650G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.887C>T	8.37:g.144620650G>A	ENSP00000262577:p.Ser296Leu						p.S296L	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	918	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		296					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.887C>T	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265602	0.23136	.	.	ENSG00000014164	ENST00000262577	T	0.03663	3.85	5.49	2.64	0.31445	.	0.499853	0.16947	N	0.193060	T	0.05868	0.0153	M	0.69823	2.125	0.09310	N	1	B	0.26041	0.14	B	0.17722	0.019	T	0.19549	-1.0302	10	0.87932	D	0	-1.4625	8.9366	0.35704	0.1351:0.1224:0.7425:0.0	.	296	Q8IXZ2	ZC3H3_HUMAN	L	296	ENSP00000262577:S296L	ENSP00000262577:S296L	S	-	2	0	ZC3H3	144691793	0.002000	0.14202	0.002000	0.10522	0.027000	0.11550	0.776000	0.26704	0.698000	0.31739	0.655000	0.94253	TCG		0.627	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		50	98	0	0	0	1	0	50	98				
RFC4	5984	broad.mit.edu	37	3	186510374	186510374	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:186510374A>G	ENST00000392481.2	-	7	861	c.580T>C	c.(580-582)Tgt>Cgt	p.C194R	RFC4_ENST00000296273.2_Missense_Mutation_p.C194R|RFC4_ENST00000433496.1_Missense_Mutation_p.C194R	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	194					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AATTTTGAACATCTAGAGGTC	0.363																																						ENST00000392481.2																			0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(580-582)Tgt>Cgt		replication factor C (activator 1) 4, 37kDa							87.0	95.0	92.0					3																	186510374		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186510374A>G		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.580T>C	3.37:g.186510374A>G	ENSP00000376272:p.Cys194Arg					RFC4_ENST00000296273.2_Missense_Mutation_p.C194R|RFC4_ENST00000433496.1_Missense_Mutation_p.C194R	p.C194R	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	7	861	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		194					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.580T>C	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679477	0.88542	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.65	5.65	0.86999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	H	0.98525	4.255	0.80722	D	1	P;D	0.60575	0.945;0.988	P;P	0.61070	0.679;0.883	D	0.86816	0.2001	10	0.87932	D	0	-17.9697	14.1241	0.65208	1.0:0.0:0.0:0.0	.	194;194	B4DM41;P35249	.;RFC4_HUMAN	R	194	ENSP00000399769:C194R;ENSP00000376272:C194R;ENSP00000296273:C194R;ENSP00000411300:C194R	ENSP00000296273:C194R	C	-	1	0	RFC4	187993068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.265000	0.95647	2.279000	0.76181	0.533000	0.62120	TGT		0.363	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		20	240	0	0	0	1	0	20	240				
NCOA6	23054	broad.mit.edu	37	20	33328602	33328602	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:33328602C>T	ENST00000374796.2	-	12	8028	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NCOA6_ENST00000359003.2_Missense_Mutation_p.V1820M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1820	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATTTTGTCCACTTTTCCTTTG	0.468																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5458-5460)Gtg>Atg		nuclear receptor coactivator 6							101.0	102.0	102.0					20																	33328602		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33328602C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5458G>A	20.37:g.33328602C>T	ENSP00000363929:p.Val1820Met					NCOA6_ENST00000359003.2_Missense_Mutation_p.V1820M	p.V1820M			Q14686	NCOA6_HUMAN			12	8028	-			1820			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.5458G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939531	0.73557	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26067	1.76;1.76	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000004	T	0.24661	0.0598	L	0.27053	0.805	0.39207	D	0.963244	P	0.50272	0.933	P	0.45577	0.486	T	0.01266	-1.1401	10	0.45353	T	0.12	-10.003	16.1979	0.82043	0.0:0.8673:0.1327:0.0	.	1820	Q14686	NCOA6_HUMAN	M	1820	ENSP00000363929:V1820M;ENSP00000351894:V1820M	ENSP00000351894:V1820M	V	-	1	0	NCOA6	32792263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.215000	0.58534	2.941000	0.99782	0.655000	0.94253	GTG		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		62	46	0	0	0	1	0	62	46				
GNRHR	2798	broad.mit.edu	37	4	68620201	68620201	+	5'Flank	SNP	C	C	G	rs555925602	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:68620201C>G	ENST00000226413.4	-	0	0				UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_5'Flank|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor						cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CCCTGAGATACTTAATGTGAA	0.368																																						ENST00000500538.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr4:68620201C>G		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302		4.37:g.68620201C>G	Exception_encountered					RP11-453E17.1_ENST00000502758.1_RNA								0	1838	+								O75793|Q14D13|Q92644	RNA	SNP	ENST00000226413.4	37		CCDS3517.1																																																																																				0.368	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			2	0	0	0	0	1	0	2	0				
SCLT1	132320	broad.mit.edu	37	4	129867279	129867279	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:129867279C>T	ENST00000281142.5	-	16	1825	c.1322G>A	c.(1321-1323)aGt>aAt	p.S441N	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	441			S -> C (in dbSNP:rs10028124). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGTAATCACTCTCATTTCC	0.348																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1321-1323)aGt>aAt		sodium channel and clathrin linker 1							98.0	91.0	93.0					4																	129867279		2202	4298	6500	SO:0001583	missense	132320					centrosome		g.chr4:129867279C>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1322G>A	4.37:g.129867279C>T	ENSP00000281142:p.Ser441Asn					SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron	p.S441N	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			16	1825	-			441		S -> C (in dbSNP:rs10028124).			A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1322G>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	4.241	0.043612	0.08196	.	.	ENSG00000151466	ENST00000281142	T	0.29142	1.58	4.39	0.33	0.15929	.	0.681258	0.15234	N	0.273277	T	0.16599	0.0399	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.11567	-1.0582	9	.	.	.	-0.2858	9.0246	0.36220	0.0:0.5524:0.0:0.4476	.	441	Q96NL6	SCLT1_HUMAN	N	441	ENSP00000281142:S441N	.	S	-	2	0	SCLT1	130086729	0.022000	0.18835	0.998000	0.56505	0.715000	0.41141	-0.205000	0.09411	0.032000	0.15435	-1.031000	0.02408	AGT		0.348	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		9	5	0	0	0	1	0	9	5				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	35	0	0	0	1	0	4	35				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	4	0	0	0	1	0	52	4				
ABCA9	10350	broad.mit.edu	37	17	67022537	67022537	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:67022537C>T	ENST00000340001.4	-	16	2333	c.2122G>A	c.(2122-2124)Ggc>Agc	p.G708S	ABCA9_ENST00000453985.2_Missense_Mutation_p.G708S|ABCA9_ENST00000370732.2_Missense_Mutation_p.G708S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	708	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCCTATGCCCCATTTCTTC	0.423																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2122-2124)Ggc>Agc		ATP-binding cassette, sub-family A (ABC1), member 9							284.0	270.0	275.0					17																	67022537		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67022537C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2122G>A	17.37:g.67022537C>T	ENSP00000342216:p.Gly708Ser					ABCA9_ENST00000370732.2_Missense_Mutation_p.G708S|ABCA9_ENST00000453985.2_Missense_Mutation_p.G708S	p.G708S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			16	2333	-	Breast(10;1.47e-12)		708			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2122G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166603	0.78339	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.71341	-0.56;-0.56	5.43	5.43	0.79202	ABC transporter-like (1);	0.000000	0.49305	D	0.000147	D	0.91192	0.7225	H	0.99182	4.46	0.80722	D	1	D;D	0.76494	0.999;0.973	D;D	0.72075	0.976;0.931	D	0.94531	0.7736	10	0.72032	D	0.01	.	18.1756	0.89760	0.0:1.0:0.0:0.0	.	708;708	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	708;691;708;703	ENSP00000342216:G708S;ENSP00000359767:G708S	ENSP00000342216:G708S	G	-	1	0	ABCA9	64534132	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	7.140000	0.77322	2.713000	0.92767	0.655000	0.94253	GGC		0.423	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		299	22	0	0	0	1	0	299	22				
SALL4	57167	broad.mit.edu	37	20	50407647	50407647	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:50407647G>A	ENST00000217086.4	-	2	1486	c.1375C>T	c.(1375-1377)Ctc>Ttc	p.L459F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	459					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTACAGAGAGTGCATAGGGG	0.537																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1375-1377)Ctc>Ttc		spalt-like transcription factor 4																																				SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407647G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1375C>T	20.37:g.50407647G>A	ENSP00000217086:p.Leu459Phe					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.L459F	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1486	-			459					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1375C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435324	0.25813	.	.	ENSG00000101115	ENST00000217086	T	0.09911	2.93	5.28	3.15	0.36227	.	0.000000	0.39341	N	0.001381	T	0.09642	0.0237	L	0.55481	1.735	0.45284	D	0.998281	P	0.38195	0.622	B	0.34991	0.193	T	0.12142	-1.0559	10	0.38643	T	0.18	-17.9298	6.7486	0.23475	0.0:0.138:0.5392:0.3228	.	459	Q9UJQ4	SALL4_HUMAN	F	459	ENSP00000217086:L459F	ENSP00000217086:L459F	L	-	1	0	SALL4	49841054	0.455000	0.25736	0.044000	0.18714	0.511000	0.34104	2.099000	0.41767	1.202000	0.43218	0.650000	0.86243	CTC		0.537	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			33	77	0	0	0	1	0	33	77				
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	RNA	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:75475607C>T	ENST00000459803.1	-	0	922					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCACCTAGCTCGGTGGTGAAC	0.652																																						ENST00000459803.1																			0																																																			0							g.chr3:75475607C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475607C>T								NR_024241.1						0	922	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.652	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	11	0	0	0	1	0	3	11				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			5	26	0	0	0	1	0	5	26				
CAP2	10486	broad.mit.edu	37	6	17556635	17556635	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:17556635T>G	ENST00000229922.2	+	13	1928	c.1396T>G	c.(1396-1398)Tcc>Gcc	p.S466A	CAP2_ENST00000378990.2_Missense_Mutation_p.S440A|CAP2_ENST00000489374.1_Missense_Mutation_p.S354A|CAP2_ENST00000465994.1_Missense_Mutation_p.S402A|CAP2_ENST00000493172.1_Missense_Mutation_p.S206A	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	466					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ATGGGATGGATCCAAGTTAAT	0.403																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(1396-1398)Tcc>Gcc		CAP, adenylate cyclase-associated protein, 2 (yeast)							133.0	121.0	125.0					6																	17556635		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17556635T>G	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1396T>G	6.37:g.17556635T>G	ENSP00000229922:p.Ser466Ala					CAP2_ENST00000378990.2_Missense_Mutation_p.S440A|CAP2_ENST00000465994.1_Missense_Mutation_p.S402A|CAP2_ENST00000493172.1_Missense_Mutation_p.S206A|CAP2_ENST00000489374.1_Missense_Mutation_p.S354A	p.S466A	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		13	1928	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	466					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.1396T>G	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567400	0.45694	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.08008	3.14;3.14;3.15;3.14	5.93	4.75	0.60458	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);	0.049802	0.85682	N	0.000000	T	0.05547	0.0146	M	0.68952	2.095	0.48901	D	0.999722	B;B;B;B;B	0.20368	0.044;0.008;0.013;0.002;0.02	B;B;B;B;B	0.22753	0.036;0.011;0.036;0.012;0.041	T	0.06643	-1.0815	10	0.41790	T	0.15	-13.7544	13.3917	0.60827	0.0:0.0:0.1314:0.8686	.	206;354;402;440;466	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	A	466;383;354;440;206;402	ENSP00000229922:S466A;ENSP00000417705:S354A;ENSP00000368275:S440A;ENSP00000418604:S402A	ENSP00000229922:S466A	S	+	1	0	CAP2	17664614	0.948000	0.32251	1.000000	0.80357	0.993000	0.82548	0.746000	0.26275	1.055000	0.40461	0.529000	0.55759	TCC		0.403	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			32	39	0	0	0	1	0	32	39				
AMY2A	279	broad.mit.edu	37	1	104160643	104160643	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:104160643C>A	ENST00000414303.2	+	2	300	c.236C>A	c.(235-237)cCa>cAa	p.P79Q		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	79					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	AGATACCAACCAGTTAGCTAT	0.353																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(235-237)cCa>cAa		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						156.0	145.0	149.0					1																	104160643		2201	4278	6479	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160643C>A	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.236C>A	1.37:g.104160643C>A	ENSP00000397582:p.Pro79Gln						p.P79Q	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	2	300	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	79					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.236C>A	CCDS783.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.932390	0.73442	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	D	0.98264	-4.83	3.47	3.47	0.39725	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98059	1.0392	10	0.87932	D	0	.	15.0729	0.72053	0.0:1.0:0.0:0.0	.	79;79	B9EJG1;P04746	.;AMYP_HUMAN	Q	79	ENSP00000397582:P79Q	ENSP00000377509:P79Q	P	+	2	0	AMY2A	103962166	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.359000	0.79477	1.927000	0.55829	0.455000	0.32223	CCA		0.353	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		23	230	1	0	2.21704e-12	1	2.45218e-12	23	230				
MCF2L2	23101	broad.mit.edu	37	3	183041097	183041097	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:183041097C>A	ENST00000328913.3	-	6	826	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	MCF2L2_ENST00000414362.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D177Y	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	177	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGGCTTTTGTCGATGTAGCCG	0.423																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(529-531)Gac>Tac		MCF.2 cell line derived transforming sequence-like 2							113.0	115.0	114.0					3																	183041097		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041097C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.529G>T	3.37:g.183041097C>A	ENSP00000328118:p.Asp177Tyr					MCF2L2_ENST00000414362.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D177Y|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D177Y	p.D177Y	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		6	826	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		177			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.529G>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797290	0.90538	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.56	5.56	0.83823	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.052694	0.64402	D	0.000001	D	0.82912	0.5140	M	0.89353	3.025	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.982	D	0.85956	0.1467	10	0.87932	D	0	.	18.2738	0.90077	0.0:1.0:0.0:0.0	.	177;177;177	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	Y	177	ENSP00000328118:D177Y;ENSP00000420070:D177Y;ENSP00000388190:D177Y;ENSP00000414131:D177Y	ENSP00000328118:D177Y	D	-	1	0	MCF2L2	184523791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.610000	0.67668	2.610000	0.88304	0.655000	0.94253	GAC		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		21	174	1	0	1.55795e-14	1	1.77703e-14	21	174				
ZNF518B	85460	broad.mit.edu	37	4	10446750	10446750	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:10446750T>G	ENST00000326756.3	-	3	1641	c.1203A>C	c.(1201-1203)gaA>gaC	p.E401D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	401					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTTTGTTTTTTCTGCAGAAA	0.378																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(1201-1203)gaA>gaC		zinc finger protein 518B							166.0	168.0	167.0					4																	10446750		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446750T>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1203A>C	4.37:g.10446750T>G	ENSP00000317614:p.Glu401Asp						p.E401D	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1641	-			401					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1203A>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392969	0.42410	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	6.07	-12.1	0.00011	.	0.659654	0.13728	N	0.366882	T	0.00936	0.0031	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.37126	-0.9719	10	0.17832	T	0.49	-12.7606	4.9274	0.13900	0.1891:0.4593:0.14:0.2115	.	401	Q9C0D4	Z518B_HUMAN	D	401	ENSP00000317614:E401D	ENSP00000317614:E401D	E	-	3	2	ZNF518B	10055848	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.044000	0.12023	-3.266000	0.00200	-1.119000	0.02030	GAA		0.378	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		8	151	0	0	0	1	0	8	151				
FAP	2191	broad.mit.edu	37	2	163099498	163099498	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:163099498C>G	ENST00000188790.4	-	2	218	c.11G>C	c.(10-12)tGg>tCg	p.W4S	FAP_ENST00000493182.1_5'Flank|FAP_ENST00000443424.1_Missense_Mutation_p.W4S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GATTTTTACCCAAGTCTACAT	0.388																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(10-12)tGg>tCg		fibroblast activation protein, alpha							83.0	71.0	75.0					2																	163099498		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163099498C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.11G>C	2.37:g.163099498C>G	ENSP00000188790:p.Trp4Ser					FAP_ENST00000443424.1_Missense_Mutation_p.W4S	p.W4S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			2	218	-			4						Missense_Mutation	SNP	ENST00000188790.4	37	c.11G>C	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.146652	0.01714	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.18810	2.19;2.28	5.92	5.04	0.67666	.	0.676503	0.14742	N	0.301087	T	0.20981	0.0505	L	0.57536	1.79	0.51233	D	0.999911	B;B;B	0.29253	0.239;0.239;0.239	B;B;B	0.24006	0.05;0.05;0.05	T	0.02471	-1.1154	10	0.33141	T	0.24	-5.9336	9.9339	0.41539	0.0:0.7886:0.1394:0.072	.	4;4;4	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	S	4	ENSP00000188790:W4S;ENSP00000411391:W4S	ENSP00000188790:W4S	W	-	2	0	FAP	162807744	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	3.194000	0.51005	1.514000	0.48869	-0.172000	0.13284	TGG		0.388	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			4	11	0	0	0	1	0	4	11				
SRGAP2B	647135	broad.mit.edu	37	1	144007565	144007568	+	RNA	DEL	TCTC	TCTC	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:144007565_144007568delTCTC	ENST00000467933.1	+	0	915							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												TGGTGCTGTGTCTCTCTCTCTGCT	0.382																																						ENST00000467933.1																			0																																																			0							g.chr1:144007565_144007568delTCTC		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144007569_144007572delTCTC														0	915	+									RNA	DEL	ENST00000467933.1	37																																																																																						0.382	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		4	5						4	5	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144009132	144009132	+	RNA	DEL	G	G	-	rs201779728|rs11364742	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:144009132delG	ENST00000467933.1	+	0	915							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tttttaatctgtttttttcag	0.338													G|G|-|deletion	2494	0.498003	0.4985	0.5	5008	,	,		53999	0.499		0.495	False		,,,				2504	0.498					ENST00000467933.1																			0																																																			0							g.chr1:144009132delG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144009132delG														0	915	+									RNA	DEL	ENST00000467933.1	37																																																																																						0.338	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		7	1						7	1	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145101606	145101606	+	RNA	DEL	T	T	-	rs113062007	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:145101606delT	ENST00000453618.1	+	0	402							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTACAGTGCCTCTTGTAAAGT	0.358													T|T|-|deletion	942	0.188099	0.3328	0.1037	5008	,	,		59262	0.1567		0.0795	False		,,,				2504	0.1963					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145101606delT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145101606delT										O75396	SC22B_HUMAN			0	402	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.358	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	2						4	2	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	5						3	5	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910493	2910494	+	lincRNA	INS	-	-	T	rs11675784|rs370973457		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:2910493_2910494insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagcccg	0.713																																						ENST00000457478.1																			0																																																			0							g.chr2:2910493_2910494insT																													2.37:g.2910494_2910494dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.713	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
LOC730100	730100	broad.mit.edu	37	2	51738452	51738452	+	lincRNA	DEL	C	C	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:51738452delC	ENST00000440698.1	+	0	694																											CCCAAAATTGCCCTCAGCAAG	0.488																																						ENST00000440698.1																			0																																																			0							g.chr2:51738452delC																													2.37:g.51738452delC														0	694	+									RNA	DEL	ENST00000440698.1	37																																																																																						0.488	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000291399.3			2	4						2	4	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105260569	105260570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:105260569_105260570insA	ENST00000306107.5	+	8	1451_1452	c.951_952insA	c.(952-954)aaafs	p.K318fs	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Frame_Shift_Ins_p.K318fs|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Frame_Shift_Ins_p.K267fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	318	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CCCTGATAGACAAAAAAAGCAT	0.426																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(949-954)gaaaaafs		activated leukocyte cell adhesion molecule																																				SO:0001589	frameshift_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260569_105260570insA	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.958dupA	3.37:g.105260576_105260576dupA	ENSP00000305988:p.Lys318fs					ALCAM_ENST00000472644.2_Frame_Shift_Ins_p.EK317fs|ALCAM_ENST00000486979.2_Frame_Shift_Ins_p.EK266fs|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR	p.EK317fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			8	1451_1452	+			317			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Frame_Shift_Ins	INS	ENST00000306107.5	37	c.951_952insA	CCDS33810.1																																																																																				0.426	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		30	40						30	40	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196728483	196728483	+	IGR	DEL	G	G	-	rs57530241	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:196728483delG	ENST00000296350.5	-	0	3963				MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5						cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGAAGGGCGCGGGGGGCCTCA	0.612													GGGgGG|GGGGGG|GGGGG|deletion	1808	0.361022	0.3238	0.4395	5008	,	,		16846	0.2778		0.3897	False		,,,				2504	0.4121					ENST00000424769.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:196728483delG		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518		3.37:g.196728483delG														0	113	+								Q9BQE2	RNA	DEL	ENST00000296350.5	37		CCDS3325.1																																																																																				0.612	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			5	3						5	3	---	---	---	---
CYP4V2	285440	broad.mit.edu	37	4	187112347	187112348	+	5'Flank	INS	-	-	GTT	rs34911984|rs146592367|rs67422809	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:187112347_187112348insGTT	ENST00000378802.4	+	0	0				AC110771.1_ENST00000596414.1_In_Frame_Ins_p.93_94HV>HNV	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2						fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ACTTCCCTAACGTGTCCCCAAA	0.629																																						ENST00000596414.1																			0											c.(277-282)cattag>caAACttag																																						SO:0001631	upstream_gene_variant	0							g.chr4:187112347_187112348insGTT	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379		4.37:g.187112347_187112348insGTT	Exception_encountered						p.93_93H>QT							1	278_279	-								B7U6W2|Q6ZTM4	In_Frame_Ins	INS	ENST00000378802.4	37	c.279_280insAAC	CCDS34119.1																																																																																				0.629	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		4	1						4	1	---	---	---	---
CTD-2296D1.4	0	broad.mit.edu	37	5	7372596	7372598	+	RNA	DEL	CCA	CCA	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr5:7372596_7372598delCCA	ENST00000513219.1	-	0	202				CTD-2296D1.5_ENST00000500616.2_lincRNA																							accactacctccaccaccaccac	0.586																																						ENST00000513219.1																			0																																																			0							g.chr5:7372596_7372598delCCA																													5.37:g.7372605_7372607delCCA														0	202	-									RNA	DEL	ENST00000513219.1	37																																																																																						0.586	CTD-2296D1.4-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000366353.1			2	4						2	4	---	---	---	---
ZBED3-AS1	728723	broad.mit.edu	37	5	76452636	76452636	+	RNA	DEL	A	A	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr5:76452636delA	ENST00000508401.1	+	0	200									ZBED3 antisense RNA 1																		TGGGGTGGGGAGGTAAGGGAT	0.592																																						ENST00000508401.1																			0																																																			0							g.chr5:76452636delA			5q13.3	2012-10-12	2012-08-15		ENSG00000250802	ENSG00000250802		"""Long non-coding RNAs"""	44188	non-coding RNA	RNA, long non-coding			"""ZBED3 antisense RNA 1 (non-protein coding)"""				Standard	NR_024398		Approved		uc003kez.3		OTTHUMG00000162473		5.37:g.76452636delA														0	200	+									RNA	DEL	ENST00000508401.1	37																																																																																						0.592	ZBED3-AS1-016	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000369077.2	NR_024398		2	4						2	4	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Intron	INS	-	-	AAA	rs201431159		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:123786032_123786033insAAA	ENST00000398178.3	-	10	953				RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Intron|TRDN_ENST00000546248.1_In_Frame_Ins_p.296_297insF	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386																																						ENST00000546248.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(889-891)tta>TTTtta		triadin																																				SO:0001627	intron_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123786032_123786033insAAA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17->TTT	6.37:g.123786039_123786041dupAAA						RP11-532N4.2_ENST00000587106.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|TRDN_ENST00000398178.3_Intron	p.296_297insF	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	9	1022_1023	-			0					A5D6W5|F5H2W7|Q6NSB8	In_Frame_Ins	INS	ENST00000398178.3	37	c.889_890insTTT	CCDS55053.1																																																																																				0.386	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
RP1-137D17.1	0	broad.mit.edu	37	6	169785503	169785504	+	lincRNA	DEL	CT	CT	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:169785503_169785504delCT	ENST00000440168.1	-	0	185																											catgcacacactcacacactca	0.48																																						ENST00000440168.1																			0																																																			0							g.chr6:169785503_169785504delCT																													6.37:g.169785503_169785504delCT														0	185	-									RNA	DEL	ENST00000440168.1	37																																																																																						0.480	RP1-137D17.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000043211.1			3	6						3	6	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140373825	140373825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:140373825delT	ENST00000072869.4	+	1	873	c.695delT	c.(694-696)cttfs	p.L232fs	ADCK2_ENST00000476491.1_Frame_Shift_Del_p.L232fs	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	232	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTCCAGAGACTTGGCAGGGCC	0.582																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(694-696)ctfs		aarF domain containing kinase 2							58.0	64.0	62.0					7																	140373825		2203	4300	6503	SO:0001589	frameshift_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373825delT	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.695delT	7.37:g.140373825delT	ENSP00000072869:p.Leu232fs					ADCK2_ENST00000476491.1_Frame_Shift_Del_p.L232fs	p.L232fs	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	873	+	Melanoma(164;0.00956)		232			Protein kinase.		Q96CN6|Q9Y6T5	Frame_Shift_Del	DEL	ENST00000072869.4	37	c.695delT	CCDS5861.1																																																																																				0.582	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		40	119						40	119	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	5						4	5	---	---	---	---
CCDC26	137196	broad.mit.edu	37	8	130676052	130676053	+	lincRNA	INS	-	-	AT	rs141802301|rs59969310|rs35763496|rs5005037		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr8:130676052_130676053insAT	ENST00000446592.3	-	0	312							Q8TAB7	CCD26_HUMAN	CCDC26 long non-coding RNA																		tatatatacacatatatataca	0.351																																						ENST00000446592.3																			0																																																			0							g.chr8:130676052_130676053insAT	BC026098		8q24.21	2014-04-01	2014-03-27		ENSG00000229140	ENSG00000229140			28416	non-coding RNA	RNA, long non-coding	"""retinoic acid modulator"""	613040	"""coiled-coil domain containing 26"""			16449964, 23399484	Standard			Approved	MGC27434, RAM	uc003ysq.2	Q8TAB7	OTTHUMG00000164848		8.37:g.130676059_130676060dupAT														0	312	-									RNA	INS	ENST00000446592.3	37																																																																																						0.351	CCDC26-001	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000380581.1			3	3						3	3	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68405348	68405349	+	lincRNA	INS	-	-	T	rs371701538|rs149727388|rs140647636		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr9:68405348_68405349insT	ENST00000417843.2	-	0	224																											aaaattctcaataaatgaggta	0.312																																						ENST00000417843.2																			0																																																			0							g.chr9:68405348_68405349insT																													9.37:g.68405349_68405349dupT														0	224	-									RNA	INS	ENST00000417843.2	37																																																																																						0.312	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			4	5						4	5	---	---	---	---
TUBBP5	643224	broad.mit.edu	37	9	141069809	141069809	+	RNA	DEL	T	T	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr9:141069809delT	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		CTCCCGTCTCTTGCAGTTCTG	0.662																																						ENST00000503395.1																			0																																																			0							g.chr9:141069809delT	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069809delT														0	1023	+									RNA	DEL	ENST00000503395.1	37																																																																																						0.662	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		2	4						2	4	---	---	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6436668	6436670	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:6436668_6436670delCTC	ENST00000396988.3	+	15	2149_2151	c.1919_1921delCTC	c.(1918-1923)gctcct>gct	p.P641del	PLEKHG6_ENST00000304581.8_In_Frame_Del_p.P171del|PLEKHG6_ENST00000449001.2_In_Frame_Del_p.P609del|PLEKHG6_ENST00000011684.7_In_Frame_Del_p.P641del	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	641						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GACCCCCAAGCTCCTCAACGCCG	0.64																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1822-1827)gct>g		pleckstrin homology domain containing, family G (with RhoGef domain) member 6																																				SO:0001651	inframe_deletion	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436668_6436670delCTC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1919_1921delCTC	12.37:g.6436671_6436673delCTC	ENSP00000380185:p.Pro641del					PLEKHG6_ENST00000304581.8_In_Frame_Del_p.AP170del|PLEKHG6_ENST00000396988.3_In_Frame_Del_p.AP640del|PLEKHG6_ENST00000011684.7_In_Frame_Del_p.AP640del	p.AP608del	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			14	2317_2319	+			640					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	In_Frame_Del	DEL	ENST00000396988.3	37	c.1823_1825delCTC	CCDS8541.1																																																																																				0.640	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		50	48						50	48	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23699267	23699268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:23699267_23699268insT	ENST00000451604.2	-	12	1680_1681	c.1579_1580insA	c.(1579-1581)ctgfs	p.L527fs	SOX5_ENST00000545921.1_Frame_Shift_Ins_p.L517fs|SOX5_ENST00000541536.1_Frame_Shift_Ins_p.L406fs|SOX5_ENST00000309359.1_Frame_Shift_Ins_p.L514fs|SOX5_ENST00000537393.1_Frame_Shift_Ins_p.L492fs|SOX5_ENST00000381381.2_Frame_Shift_Ins_p.L406fs|SOX5_ENST00000396007.2_Frame_Shift_Ins_p.L141fs|SOX5_ENST00000546136.1_Frame_Shift_Ins_p.L514fs			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	527					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATCTCCACTCAGATTGAAATCC	0.337																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1540-1542)gagfs		SRY (sex determining region Y)-box 5																																				SO:0001589	frameshift_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23699267_23699268insT	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1579_1580insA	12.37:g.23699267_23699268insT	ENSP00000398273:p.Leu527fs					SOX5_ENST00000541536.1_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000545921.1_Frame_Shift_Ins_p.E517fs|SOX5_ENST00000451604.2_Frame_Shift_Ins_p.E527fs|SOX5_ENST00000381381.2_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000396007.2_Frame_Shift_Ins_p.E141fs|SOX5_ENST00000537393.1_Frame_Shift_Ins_p.E492fs|SOX5_ENST00000309359.1_Frame_Shift_Ins_p.E514fs	p.E514fs			P35711	SOX5_HUMAN			11	1542_1543	-			527	E -> Q (in Ref. 4; AAB49537).				B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Frame_Shift_Ins	INS	ENST00000451604.2	37	c.1540_1541insA	CCDS8699.1																																																																																				0.337	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		33	43						33	43	---	---	---	---
PARPBP	55010	broad.mit.edu	37	12	102590065	102590066	+	In_Frame_Ins	INS	-	-	ATA			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:102590065_102590066insATA	ENST00000358383.5	+	11	1781_1782	c.1736_1737insATA	c.(1735-1740)ctataa>ctATAataa	p.580_581ins*	PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000541394.1_In_Frame_Ins_p.657_658ins*|PARPBP_ENST00000327680.2_In_Frame_Ins_p.499_500ins*|PARPBP_ENST00000392911.2_In_Frame_Ins_p.499_500ins*			Q9NWS1	PARI_HUMAN	PARP1 binding protein	0					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TTTTTTAGACTATAAATTTGTG	0.312																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(1492-1494)cta>cATAta		PARP1 binding protein																																				SO:0001652	inframe_insertion	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102590065_102590066insATA	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1737_1739dupATA	12.37:g.102590066_102590068dupATA	Exception_encountered					PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000541394.1_In_Frame_Ins_p.656_656L>HI|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000392911.2_In_Frame_Ins_p.498_498L>HI|PARPBP_ENST00000358383.5_In_Frame_Ins_p.579_579L>HI|PARPBP_ENST00000378128.3_3'UTR	p.498_498L>HI	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			12	1956_1957	+			579					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	In_Frame_Ins	INS	ENST00000358383.5	37	c.1493_1494insATA	CCDS9090.2																																																																																				0.312	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		30	35						30	35	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110835578	110835578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:110835578delG	ENST00000375820.4	-	27	2064	c.1943delC	c.(1942-1944)cctfs	p.P648fs		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	648	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTCTGCTCCAGGGGGGCCTGG	0.527																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1942-1944)ctfs		collagen, type IV, alpha 1							25.0	27.0	26.0					13																	110835578		2203	4300	6503	SO:0001589	frameshift_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110835578delG	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1943delC	13.37:g.110835578delG	ENSP00000364979:p.Pro648fs						p.P648fs	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		27	2064	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	648			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Frame_Shift_Del	DEL	ENST00000375820.4	37	c.1943delC	CCDS9511.1																																																																																				0.527	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			2	4						2	4	---	---	---	---
RP11-146E13.4	0	broad.mit.edu	37	14	19850732	19850733	+	lincRNA	INS	-	-	A	rs369218058		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:19850732_19850733insA	ENST00000548109.1	+	0	72																											AAATTAGACATAAAAGTAAAAA	0.332																																						ENST00000548109.1																			0																																																			0							g.chr14:19850732_19850733insA																													14.37:g.19850736_19850736dupA														0	72	+									RNA	INS	ENST00000548109.1	37																																																																																						0.332	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			2	4						2	4	---	---	---	---
RP11-509A17.3	0	broad.mit.edu	37	15	20557657	20557657	+	lincRNA	DEL	C	C	-	rs558942781|rs549250496|rs386781688	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr15:20557657delC	ENST00000557528.1	+	0	44				snoU13_ENST00000459119.1_RNA																							tctgctctcacccccgcctct	0.642													|||unknown(NO_COVERAGE)	276	0.0551118	0.1967	0.0216	5008	,	,		45950	0.0		0.001	False		,,,				2504	0.0					ENST00000557528.1																			0																																																			0							g.chr15:20557657delC																													15.37:g.20557657delC														0	44	+									RNA	DEL	ENST00000557528.1	37																																																																																						0.642	RP11-509A17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414658.1			3	4						3	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	6						3	6	---	---	---	---
LOC390705	390705	broad.mit.edu	37	16	32320426	32320427	+	RNA	DEL	CG	CG	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr16:32320426_32320427delCG	ENST00000568567.1	-	0	244					NR_033866.1																						agacgaacctcgctatgtttcc	0.54																																						ENST00000568567.1																			0																																																			0							g.chr16:32320426_32320427delCG																													16.37:g.32320426_32320427delCG								NR_033866.1						0	244	-									RNA	DEL	ENST00000568567.1	37																																																																																						0.540	RP11-17M15.2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432554.1			4	8						4	8	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(385-387)aaafs	p.K129fs	TCF25_ENST00000263347.7_5'Flank|TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	129					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(382-387)aaaaaafs		transcription factor 25 (basic helix-loop-helix)																																				SO:0001589	frameshift_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89951019_89951020insA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.393dupA	16.37:g.89951028_89951028dupA	ENSP00000263346:p.Lys129fs					TCF25_ENST00000563406.1_3'UTR	p.KK128fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	440_441	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	128					Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	37	c.384_385insA	CCDS10987.1																																																																																				0.446	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		11	96						11	96	---	---	---	---
AFG3L1P	172	broad.mit.edu	37	16	90053806	90053806	+	RNA	DEL	G	G	-	rs370274103		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr16:90053806delG	ENST00000437774.1	+	0	731					NR_003226.1				AFG3-like AAA ATPase 1, pseudogene																		aggtggaggaggtggaggagg	0.642																																						ENST00000437774.1																			0																																																			0							g.chr16:90053806delG	AJ001495		16q24.3	2013-10-17	2013-10-17	2010-10-28	ENSG00000223959	ENSG00000223959		"""ATPases / AAA-type"""	314	pseudogene	pseudogene		603020	"""AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene"", ""AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene"""	AFG3, AFG3L1		9545647, 11549317	Standard	NR_003228		Approved		uc002fpz.1		OTTHUMG00000138987		16.37:g.90053806delG								NR_003226.1						0	731	+									RNA	DEL	ENST00000437774.1	37																																																																																						0.642	AFG3L1P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316791.1	NR_003226		3	6						3	6	---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48360270	48360271	+	IGR	INS	-	-	AAAC	rs5820809|rs35722548|rs3062762|rs200382357	byFrequency	TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:48360270_48360271insAAAC	ENST00000300433.3	+	0	2765				RP11-893F2.9_ENST00000508851.1_RNA	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92							integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						tcaaaacaaataaacaaacaaa	0.49														3041	0.607228	0.3828	0.634	5008	,	,		23235	0.7411		0.6531	False		,,,				2504	0.7065					ENST00000508851.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:48360270_48360271insAAAC		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6			17.37:g.48360275_48360278dupAAAC														0	366	-								Q8NBF0	RNA	INS	ENST00000300433.3	37		CCDS11562.1																																																																																				0.490	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		5	2						5	2	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11039832	11039832	+	RNA	DEL	G	G	-	rs143260277		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr21:11039832delG	ENST00000470054.1	-	0	774							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGCGACAAAGTTACTATAGA	0.348																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039832delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039832delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	774	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.348	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11041957	11041963	+	RNA	DEL	AGTTTTG	AGTTTTG	-	rs4040882|rs67727472		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr21:11041957_11041963delAGTTTTG	ENST00000470054.1	-	0	774							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTTCATATAGTTTTGAGTTTTGAAA	0.309																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11041957_11041963delAGTTTTG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11041964_11041970delAGTTTTG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	774	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.309	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			7	134						7	134	---	---	---	---
