#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
TENM3	55714	broad.mit.edu	37	4	183714586	183714586	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:183714586C>A	ENST00000511685.1	+	26	6884	c.6761C>A	c.(6760-6762)aCt>aAt	p.T2254N	TENM3_ENST00000406950.2_Missense_Mutation_p.T2254N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2254					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCTGACTTAACTTATCCCACT	0.443																																						ENST00000511685.1																			0											c.(6760-6762)aCt>aAt		teneurin transmembrane protein 3							59.0	59.0	59.0					4																	183714586		1882	4112	5994	SO:0001583	missense	55714							g.chr4:183714586C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6761C>A	4.37:g.183714586C>A	ENSP00000424226:p.Thr2254Asn					TENM3_ENST00000406950.2_Missense_Mutation_p.T2254N	p.T2254N							26	6884	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6761C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	1.510	-0.549772	0.03996	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86297	-2.1;-2.1	4.65	3.81	0.43845	.	.	.	.	.	T	0.71871	0.3391	N	0.10972	0.075	0.29724	N	0.838404	B	0.02656	0.0	B	0.01281	0.0	T	0.60606	-0.7230	9	0.13853	T	0.58	.	7.987	0.30218	0.1578:0.7616:0.0:0.0806	.	2254	Q9P273	TEN3_HUMAN	N	2254	ENSP00000424226:T2254N;ENSP00000385276:T2254N	ENSP00000385276:T2254N	T	+	2	0	ODZ3	183951580	0.995000	0.38212	0.037000	0.18230	0.984000	0.73092	3.086000	0.50159	1.184000	0.42957	0.563000	0.77884	ACT		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			10	54	1	0	0.000442599	1	0.000464225	10	54				
PCDHB16	57717	broad.mit.edu	37	5	140562409	140562409	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:140562409G>T	ENST00000361016.2	+	1	1430	c.275G>T	c.(274-276)cGa>cTa	p.R92L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTAGATCGAGAGGAGCTA	0.463																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(274-276)cGa>cTa									56.0	59.0	58.0					5																	140562409		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562409G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.275G>T	5.37:g.140562409G>T	ENSP00000354293:p.Arg92Leu						p.R92L	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1430	+			92			Cadherin 1.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.275G>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874672	0.91664	.	.	ENSG00000196963	ENST00000361016	T	0.53423	0.62	4.84	3.93	0.45458	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.28865	N	0.013895	T	0.80944	0.4721	H	0.98833	4.345	0.37901	D	0.931054	D	0.52996	0.957	D	0.77557	0.99	D	0.89973	0.4095	10	0.87932	D	0	.	15.0464	0.71830	0.0:0.1423:0.8577:0.0	.	92	Q9NRJ7	PCDBG_HUMAN	L	92	ENSP00000354293:R92L	ENSP00000354293:R92L	R	+	2	0	PCDHB16	140542593	0.998000	0.40836	0.980000	0.43619	0.989000	0.77384	7.891000	0.87319	2.217000	0.71921	0.655000	0.94253	CGA		0.463	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		4	72	1	0	0.014758	1	0.0150382	4	72				
SYNE1	23345	broad.mit.edu	37	6	152605242	152605242	+	Silent	SNP	C	C	T	rs146027815		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:152605242C>T	ENST00000367255.5	-	96	18679	c.18078G>A	c.(18076-18078)gaG>gaA	p.E6026E	SYNE1_ENST00000356820.4_Silent_p.E550E|SYNE1_ENST00000448038.1_Silent_p.E5955E|SYNE1_ENST00000423061.1_Silent_p.E5955E|SYNE1_ENST00000341594.5_Silent_p.E5638E|SYNE1_ENST00000265368.4_Silent_p.E6026E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6026					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATACCAGCTCCTCTGCGAGAG	0.532										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18056	0.0		0.001	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18076-18078)gaG>gaA		spectrin repeat containing, nuclear envelope 1							77.0	72.0	74.0					6																	152605242		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152605242C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18078G>A	6.37:g.152605242C>T		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.E5638E|SYNE1_ENST00000448038.1_Silent_p.E5955E|SYNE1_ENST00000356820.4_Silent_p.E550E|SYNE1_ENST00000265368.4_Silent_p.E6026E|SYNE1_ENST00000423061.1_Silent_p.E5955E	p.E6026E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18679	-		Ovarian(120;0.0955)	6026					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.18078G>A	CCDS5236.2																																																																																				0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	62	0	0	0	1	0	10	62				
PNPLA7	375775	broad.mit.edu	37	9	140441337	140441337	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:140441337T>C	ENST00000277531.4	-	3	329	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.Y73C	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	48					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGGAACCGGTACTGAGGAGT	0.602																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(217-219)tAc>tGc		patatin-like phospholipase domain containing 7							122.0	105.0	111.0					9																	140441337		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140441337T>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.143A>G	9.37:g.140441337T>C	ENSP00000277531:p.Tyr48Cys					PNPLA7_ENST00000277531.4_Missense_Mutation_p.Y48C	p.Y73C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	4	554	-	all_cancers(76;0.126)		48					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.218A>G	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658559	0.47467	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.61627	0.1;0.09;0.11	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.74535	0.3729	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77115	-0.2707	10	0.52906	T	0.07	-28.1134	12.7782	0.57461	0.0:0.0:0.0:1.0	.	73;48	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	C	48;73;48;39;73	ENSP00000277531:Y48C;ENSP00000384610:Y73C;ENSP00000400582:Y39C	ENSP00000277531:Y48C	Y	-	2	0	PNPLA7	139561158	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	7.332000	0.79203	1.799000	0.52666	0.454000	0.30748	TAC		0.602	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		4	125	0	0	0	1	0	4	125				
XPNPEP3	63929	broad.mit.edu	37	22	41305234	41305234	+	Missense_Mutation	SNP	A	A	G	rs368442371		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr22:41305234A>G	ENST00000357137.4	+	6	1048	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I299V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	322					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TAATCAACTCATCAAGGTACG	0.483																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(964-966)Atc>Gtc		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							159.0	131.0	141.0					22																	41305234		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41305234A>G		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.964A>G	22.37:g.41305234A>G	ENSP00000349658:p.Ile322Val					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I299V	p.I322V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			6	1048	+			322					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.964A>G	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.141281	0.37825	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.78595	-1.19;-1.19	5.36	5.36	0.76844	Peptidase M24, structural domain (3);	0.050747	0.85682	D	0.000000	T	0.72011	0.3408	L	0.39397	1.21	0.51012	D	0.999905	B	0.33299	0.407	B	0.36092	0.217	T	0.70722	-0.4794	10	0.34782	T	0.22	.	15.0168	0.71591	1.0:0.0:0.0:0.0	.	322	Q9NQH7	XPP3_HUMAN	V	322;299	ENSP00000349658:I322V;ENSP00000441942:I299V	ENSP00000349658:I322V	I	+	1	0	XPNPEP3	39635180	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.453000	0.60061	2.041000	0.60428	0.459000	0.35465	ATC		0.483	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		21	78	0	0	0	1	0	21	78				
DDC	1644	broad.mit.edu	37	7	50611616	50611616	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:50611616G>A	ENST00000444124.2	-	2	368	c.168C>T	c.(166-168)atC>atT	p.I56I	DDC_ENST00000431062.1_Silent_p.I56I|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Silent_p.I56I|DDC_ENST00000380984.4_Silent_p.I56I|DDC_ENST00000357936.5_Silent_p.I56I	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	56					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CGTCGTTGATGATGTCCTCAA	0.567																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(166-168)atC>atT		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						143.0	132.0	136.0					7																	50611616		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611616G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.168C>T	7.37:g.50611616G>A						DDC_ENST00000431062.1_Silent_p.I56I|DDC_ENST00000426377.1_Silent_p.I56I|DDC_ENST00000357936.5_Silent_p.I56I|DDC_ENST00000380984.4_Silent_p.I56I	p.I56I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			2	368	-	Glioma(55;0.08)|all_neural(89;0.245)		56					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.168C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	6.286	0.420862	0.11928	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.92	3.1	0.35709	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45775	-0.9238	4	.	.	.	-7.6376	6.424	0.21760	0.1349:0.0:0.5985:0.2666	.	.	.	.	L	22	.	.	S	-	2	0	DDC	50579110	0.997000	0.39634	0.975000	0.42487	0.342000	0.28953	1.467000	0.35321	0.383000	0.24910	0.655000	0.94253	TCA		0.567	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			30	117	0	0	0	1	0	30	117				
SRPK2	6733	broad.mit.edu	37	7	104758442	104758442	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:104758442T>G	ENST00000393651.3	-	16	2030	c.1943A>C	c.(1942-1944)aAg>aCg	p.K648T	SRPK2_ENST00000489828.1_Missense_Mutation_p.K637T|SRPK2_ENST00000493638.1_5'Flank|SRPK2_ENST00000357311.3_Missense_Mutation_p.K637T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCTCCAGGGCTTCAGCTTGGT	0.473																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(1909-1911)aAg>aCg		SRSF protein kinase 2							78.0	68.0	71.0					7																	104758442		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104758442T>G	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1943A>C	7.37:g.104758442T>G	ENSP00000377262:p.Lys648Thr					SRPK2_ENST00000489828.1_Missense_Mutation_p.K637T|SRPK2_ENST00000393651.3_Missense_Mutation_p.K648T	p.K637T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			15	2081	-			637			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.1910A>C	CCDS34724.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.04|19.04|19.04	3.749764|3.749764|3.749764	0.69533|0.69533|0.69533	.|.|.	.|.|.	ENSG00000135250|ENSG00000135250|ENSG00000135250	ENST00000477925|ENST00000393651;ENST00000357311;ENST00000489828|ENST00000474770	.|T;T;T|.	.|0.19669|.	.|2.13;2.13;2.13|.	5.76|5.76|5.76	5.76|5.76|5.76	0.90799|0.90799|0.90799	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.74366|0.74366|0.74366	0.3707|0.3707|0.3707	M|M|M	0.70903|0.70903|0.70903	2.155|2.155|2.155	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.71674|.	.|0.99;0.998|.	.|P;D|.	.|0.79784|.	.|0.886;0.993|.	T|T|T	0.74041|0.74041|0.74041	-0.3792|-0.3792|-0.3792	5|10|5	.|0.87932|.	.|D|.	.|0|.	-30.0088|-30.0088|-30.0088	16.3634|16.3634|16.3634	0.83296|0.83296|0.83296	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|648;637|.	.|P78362-2;P78362|.	.|.;SRPK2_HUMAN|.	D|T|R	243|648;637;637|153	.|ENSP00000377262:K648T;ENSP00000349863:K637T;ENSP00000419791:K637T|.	.|ENSP00000349863:K637T|.	E|K|S	-|-|-	3|2|1	2|0|0	SRPK2|SRPK2|SRPK2	104545678|104545678|104545678	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.997000|7.997000|7.997000	0.88414|0.88414|0.88414	2.324000|2.324000|2.324000	0.78689|0.78689|0.78689	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|AGC		0.473	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		24	55	0	0	0	1	0	24	55				
MALAT1	378938	broad.mit.edu	37	11	65271539	65271539	+	lincRNA	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:65271539A>T	ENST00000534336.1	+	0	6307					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AATGTTTTACACTATTGACCT	0.358																																						ENST00000534336.1																			0																				29.0	31.0	30.0					11																	65271539		874	1988	2862			378938							g.chr11:65271539A>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271539A>T								NR_002819.2						0	6307	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.358	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		10	22	0	0	0	1	0	10	22				
NME8	51314	broad.mit.edu	37	7	37889890	37889890	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:37889890G>T	ENST00000199447.4	+	3	394	c.22G>T	c.(22-24)Gtc>Ttc	p.V8F	NME8_ENST00000440017.1_Missense_Mutation_p.V8F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	8	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AAAACGAGAAGTCCAGTTACA	0.333																																						ENST00000199447.4																			0											c.(22-24)Gtc>Ttc		NME/NM23 family member 8							194.0	201.0	198.0					7																	37889890		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37889890G>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.22G>T	7.37:g.37889890G>T	ENSP00000199447:p.Val8Phe					NME8_ENST00000440017.1_Missense_Mutation_p.V8F|EPDR1_ENST00000476620.1_Intron	p.V8F	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			3	394	+			8			Thioredoxin.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.22G>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686435	0.29962	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.37584	1.19;1.19	5.12	2.17	0.27698	Thioredoxin-like fold (3);	0.580649	0.15536	N	0.257212	T	0.33644	0.0870	L	0.54323	1.7	0.25663	N	0.985979	B	0.33857	0.429	B	0.37780	0.258	T	0.28396	-1.0045	10	0.72032	D	0.01	-2.3688	6.6081	0.22735	0.4695:0.0:0.5305:0.0	.	8	Q8N427	TXND3_HUMAN	F	8	ENSP00000199447:V8F;ENSP00000397063:V8F	ENSP00000199447:V8F	V	+	1	0	TXNDC3	37856415	0.306000	0.24490	0.997000	0.53966	0.525000	0.34531	0.031000	0.13710	0.494000	0.27859	0.561000	0.74099	GTC		0.333	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		33	135	1	0	1.36615e-20	1	1.88798e-20	33	135				
CNGA2	1260	broad.mit.edu	37	X	150912245	150912245	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:150912245G>A	ENST00000329903.4	+	6	1303	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	424					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACAGTGGATGAGCGAGA	0.483																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1270-1272)Gat>Aat		cyclic nucleotide gated channel alpha 2							71.0	63.0	66.0					X																	150912245		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912245G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1270G>A	X.37:g.150912245G>A	ENSP00000328478:p.Asp424Asn						p.D424N	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1303	+	Acute lymphoblastic leukemia(192;6.56e-05)		424					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1270G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904926	0.52333	.	.	ENSG00000183862	ENST00000329903	D	0.96913	-4.17	4.96	4.96	0.65561	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97791	0.9275	M	0.79475	2.455	0.53688	D	0.999977	D	0.89917	1.0	D	0.83275	0.996	D	0.97869	1.0285	10	0.45353	T	0.12	.	14.8649	0.70406	0.0:0.0:1.0:0.0	.	424	Q16280	CNGA2_HUMAN	N	424	ENSP00000328478:D424N	ENSP00000328478:D424N	D	+	1	0	CNGA2	150662901	1.000000	0.71417	0.961000	0.40146	0.395000	0.30598	9.420000	0.97426	2.183000	0.69458	0.529000	0.55759	GAT		0.483	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		19	23	0	0	0	1	0	19	23				
FMN2	56776	broad.mit.edu	37	1	240492415	240492415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:240492415G>C	ENST00000319653.9	+	9	4485	c.4255G>C	c.(4255-4257)Ggc>Cgc	p.G1419R	FMN2_ENST00000545751.1_Missense_Mutation_p.G15R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1419	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAAAAGCATGGCCGATCTTC	0.423																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4255-4257)Ggc>Cgc		formin 2							108.0	104.0	105.0					1																	240492415		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492415G>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4255G>C	1.37:g.240492415G>C	ENSP00000318884:p.Gly1419Arg					FMN2_ENST00000545751.1_Missense_Mutation_p.G15R	p.G1419R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		9	4485	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1419			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4255G>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	9.264	1.043918	0.19748	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000545751;ENST00000537355	T;T;T	0.62498	1.73;0.02;1.97	5.68	2.81	0.32909	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.308736	0.27846	N	0.017610	T	0.59824	0.2222	L	0.32530	0.975	0.80722	D	1	B;B;P;P	0.49185	0.427;0.153;0.627;0.92	B;B;P;P	0.58577	0.243;0.133;0.527;0.841	T	0.51663	-0.8677	10	0.11794	T	0.64	.	9.5974	0.39582	0.3085:0.0:0.6915:0.0	.	15;65;48;1419	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	R	1419;65;15;46	ENSP00000318884:G1419R;ENSP00000388922:G65R;ENSP00000437918:G15R	ENSP00000318884:G1419R	G	+	1	0	FMN2	238559038	0.271000	0.24162	0.288000	0.24862	0.502000	0.33828	0.741000	0.26202	0.334000	0.23590	-0.137000	0.14449	GGC		0.423	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		22	68	0	0	0	1	0	22	68				
DMD	1756	broad.mit.edu	37	X	32716089	32716089	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:32716089A>T	ENST00000357033.4	-	9	1064	c.858T>A	c.(856-858)taT>taA	p.Y286*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Y282*|DMD_ENST00000288447.4_Nonsense_Mutation_p.Y278*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	286					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTCTCTCATATCCCTGTG	0.507																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(856-858)taT>taA		dystrophin							138.0	97.0	111.0					X																	32716089		2202	4299	6501	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32716089A>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.858T>A	X.37:g.32716089A>T	ENSP00000354923:p.Tyr286*					DMD_ENST00000288447.4_Nonsense_Mutation_p.Y278*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Y282*	p.Y286*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			9	1064	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	286					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.858T>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	39	7.289628	0.98189	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.63	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9424	0.29965	0.827:0.0:0.1729:0.0	.	.	.	.	X	278;282;286;286;163;278	.	ENSP00000288447:Y278X	Y	-	3	2	DMD	32626010	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	1.015000	0.29963	0.772000	0.33382	0.437000	0.28790	TAT		0.507	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		9	8	0	0	0	1	0	9	8				
ACSM2B	348158	broad.mit.edu	37	16	20566638	20566638	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:20566638C>T	ENST00000329697.6	-	4	717	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ACSM2B_ENST00000567001.1_Silent_p.V183V|ACSM2B_ENST00000565232.1_Silent_p.V183V|ACSM2B_ENST00000565322.1_Silent_p.V104V|ACSM2B_ENST00000414188.2_Silent_p.V183V|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	183					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTTCTCAGACACCAGTAGCT	0.443																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(547-549)gtG>gtA		acyl-CoA synthetase medium-chain family member 2B							241.0	228.0	232.0					16																	20566638		2201	4300	6501	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20566638C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.549G>A	16.37:g.20566638C>T						ACSM2B_ENST00000567001.1_Silent_p.V183V|ACSM2B_ENST00000565232.1_Silent_p.V183V|ACSM2B_ENST00000565322.1_Silent_p.V104V|ACSM2B_ENST00000414188.2_Silent_p.V183V	p.V183V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			4	717	-			183					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.549G>A	CCDS10586.1																																																																																				0.443	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		31	289	0	0	0	1	0	31	289				
VPS13A	23230	broad.mit.edu	37	9	79959942	79959942	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:79959942A>T	ENST00000360280.3	+	52	7433	c.7173A>T	c.(7171-7173)gcA>gcT	p.A2391A	VPS13A_ENST00000376634.4_Silent_p.A2391A|VPS13A_ENST00000357409.5_Silent_p.A2391A|VPS13A_ENST00000376636.3_Silent_p.A2352A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2391					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTATTATAGCAGAAGTGAATT	0.299																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7171-7173)gcA>gcT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							127.0	129.0	128.0					9																	79959942		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79959942A>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7173A>T	9.37:g.79959942A>T						VPS13A_ENST00000357409.5_Silent_p.A2391A|VPS13A_ENST00000376636.3_Silent_p.A2352A|VPS13A_ENST00000376634.4_Silent_p.A2391A	p.A2391A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			52	7433	+			2391					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.7173A>T	CCDS6655.1																																																																																				0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		91	162	0	0	0	1	0	91	162				
USP28	57646	broad.mit.edu	37	11	113683212	113683212	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:113683212C>T	ENST00000003302.4	-	16	1826	c.1758G>A	c.(1756-1758)ttG>ttA	p.L586L	USP28_ENST00000260188.5_Silent_p.L586L|USP28_ENST00000544967.1_Silent_p.L294L|USP28_ENST00000545540.1_Silent_p.L461L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	586	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GAACTGCATGCAAGCGATAAG	0.398																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1756-1758)ttG>ttA		ubiquitin specific peptidase 28							101.0	103.0	102.0					11																	113683212		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683212C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1758G>A	11.37:g.113683212C>T						USP28_ENST00000260188.5_Silent_p.L586L|USP28_ENST00000545540.1_Silent_p.L461L|USP28_ENST00000544967.1_Silent_p.L294L	p.L586L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1826	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	586					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.1758G>A	CCDS31680.1																																																																																				0.398	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			10	111	0	0	0	1	0	10	111				
SUPT6H	6830	broad.mit.edu	37	17	27010309	27010309	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:27010309C>T	ENST00000314616.6	+	16	2185	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	SUPT6H_ENST00000347486.4_Silent_p.A634A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	634	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCCACTATGCCTATTCCTTCA	0.517																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1900-1902)gcC>gcT		suppressor of Ty 6 homolog (S. cerevisiae)							81.0	75.0	77.0					17																	27010309		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010309C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1902C>T	17.37:g.27010309C>T						SUPT6H_ENST00000347486.4_Silent_p.A634A	p.A634A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			16	2185	+	Lung NSC(42;0.00431)		634					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.1902C>T	CCDS32596.1																																																																																				0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		21	44	0	0	0	1	0	21	44				
OR5T2	219464	broad.mit.edu	37	11	56000386	56000386	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:56000386G>A	ENST00000313264.4	-	1	351	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTGGAGCTGGGAATCCCTAA	0.393																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(274-276)tcC>tcT		olfactory receptor, family 5, subfamily T, member 2							78.0	75.0	76.0					11																	56000386		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000386G>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.276C>T	11.37:g.56000386G>A							p.S92S	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	351	-	Esophageal squamous(21;0.00448)		92					B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.276C>T	CCDS31523.1																																																																																				0.393	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		16	41	0	0	0	1	0	16	41				
TARBP1	6894	broad.mit.edu	37	1	234565013	234565013	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:234565013T>C	ENST00000040877.1	-	17	2928	c.2929A>G	c.(2929-2931)Ata>Gta	p.I977V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	977					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAAGAAGATATAATTTTCCAC	0.328																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(2929-2931)Ata>Gta		TAR (HIV-1) RNA binding protein 1							63.0	67.0	66.0					1																	234565013		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234565013T>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2929A>G	1.37:g.234565013T>C	ENSP00000040877:p.Ile977Val						p.I977V	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		17	2928	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	977					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2929A>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	2.668	-0.278216	0.05679	.	.	ENSG00000059588	ENST00000040877	T	0.04603	3.59	5.58	1.98	0.26296	Armadillo-type fold (1);	0.373350	0.31519	N	0.007505	T	0.02848	0.0085	L	0.39397	1.21	0.09310	N	1	B	0.30236	0.274	B	0.20955	0.032	T	0.43015	-0.9417	10	0.05620	T	0.96	-30.7976	5.2191	0.15358	0.0:0.2111:0.1418:0.6471	.	977	Q13395	TARB1_HUMAN	V	977	ENSP00000040877:I977V	ENSP00000040877:I977V	I	-	1	0	TARBP1	232631636	0.000000	0.05858	0.095000	0.20976	0.991000	0.79684	-0.207000	0.09384	0.475000	0.27415	0.533000	0.62120	ATA		0.328	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		26	77	0	0	0	1	0	26	77				
GRM2	2912	broad.mit.edu	37	3	51746762	51746762	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:51746762G>T	ENST00000395052.3	+	3	958	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.G242C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	242					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAGAAAGTGGGCCGTGCCAT	0.642																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(724-726)Ggc>Tgc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						43.0	41.0	42.0					3																	51746762		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746762G>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.724G>T	3.37:g.51746762G>T	ENSP00000378492:p.Gly242Cys					GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.G242C	p.G242C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	958	+			242					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.724G>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462847	0.43736	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86164	-2.08;-2.08	5.25	5.25	0.73442	Extracellular ligand-binding receptor (1);	0.048512	0.85682	D	0.000000	D	0.91466	0.7306	L	0.46157	1.445	0.53688	D	0.999978	D	0.76494	0.999	D	0.76071	0.987	D	0.90835	0.4719	10	0.45353	T	0.12	.	19.2281	0.93825	0.0:0.0:1.0:0.0	.	242	Q14416	GRM2_HUMAN	C	242	ENSP00000378492:G242C;ENSP00000408906:G242C	ENSP00000296479:G242C	G	+	1	0	GRM2	51721802	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	7.295000	0.78780	2.637000	0.89404	0.650000	0.86243	GGC		0.642	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			14	24	1	0	4.36969e-10	1	5.25015e-10	14	24				
TMEM57	55219	broad.mit.edu	37	1	25773365	25773365	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:25773365G>A	ENST00000374343.4	+	2	372	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Missense_Mutation_p.V65I	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	65					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGAAGCGTCTATGATTC	0.443																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(193-195)Gtc>Atc		transmembrane protein 57							154.0	149.0	151.0					1																	25773365		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25773365G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.193G>A	1.37:g.25773365G>A	ENSP00000363463:p.Val65Ile					TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Missense_Mutation_p.V65I	p.V65I	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	2	372	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	65					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.193G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089224	0.76756	.	.	ENSG00000204178	ENST00000399766;ENST00000374343	T	0.80214	-1.35	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.88470	0.6445	M	0.66506	2.035	0.80722	D	1	D;P	0.57899	0.981;0.814	D;P	0.65010	0.931;0.564	D	0.87113	0.2186	10	0.46703	T	0.11	-13.6643	19.3309	0.94288	0.0:0.0:1.0:0.0	.	65;65	Q8N5G2-3;Q8N5G2	.;MACOI_HUMAN	I	65	ENSP00000382668:V65I	ENSP00000363463:V65I	V	+	1	0	TMEM57	25645952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.880000	0.98712	0.650000	0.86243	GTC		0.443	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		4	147	0	0	0	1	0	4	147				
XIST	7503	broad.mit.edu	37	X	73071032	73071032	+	lincRNA	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:73071032G>A	ENST00000429829.1	-	0	1556					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGCACTAGGCGGCAAAACCCG	0.517																																						ENST00000429829.1																			0																				172.0	161.0	164.0					X																	73071032		876	1991	2867			7503							g.chrX:73071032G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071032G>A								NR_001564.2						0	1556	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.517	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		51	47	0	0	0	1	0	51	47				
MRPL47	57129	broad.mit.edu	37	3	179311660	179311660	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:179311660T>C	ENST00000476781.1	-	5	455	c.426A>G	c.(424-426)ttA>ttG	p.L142L	MRPL47_ENST00000392659.2_Silent_p.L32L|MRPL47_ENST00000259038.2_Silent_p.L122L	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	142					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CAACTTTATCTAATGCATCCA	0.373																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(424-426)ttA>ttG		mitochondrial ribosomal protein L47							119.0	124.0	123.0					3																	179311660		2203	4300	6503	SO:0001819	synonymous_variant	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179311660T>C	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.426A>G	3.37:g.179311660T>C						MRPL47_ENST00000259038.2_Silent_p.L122L|MRPL47_ENST00000392659.2_Silent_p.L32L	p.L142L	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		5	455	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		142					Q6XRG1|Q8N5D1	Silent	SNP	ENST00000476781.1	37	c.426A>G	CCDS3232.1																																																																																				0.373	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		100	126	0	0	0	1	0	100	126				
NSD1	64324	broad.mit.edu	37	5	176638400	176638400	+	Silent	SNP	C	C	T	rs150854966	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176638400C>T	ENST00000439151.2	+	5	3045	c.3000C>T	c.(2998-3000)tcC>tcT	p.S1000S	NSD1_ENST00000361032.4_Silent_p.S897S|NSD1_ENST00000354179.4_Silent_p.S731S|NSD1_ENST00000347982.4_Silent_p.S731S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1000					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTTACTGTCCGACAAGAGAG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			C|||	3	0.000599042	0.0023	0.0	5008	,	,		20776	0.0		0.0	False		,,,				2504	0.0					ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2998-3000)tcC>tcT		nuclear receptor binding SET domain protein 1		C	,	11,4395	17.9+/-39.9	0,11,2192	112.0	107.0	109.0		3000,2193	-5.4	0.0	5	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NSD1	NM_022455.4,NM_172349.2	,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,	1000/2697,731/2428	176638400	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638400C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3000C>T	5.37:g.176638400C>T		HNSCC(47;0.14)				NSD1_ENST00000361032.4_Silent_p.S897S|NSD1_ENST00000347982.4_Silent_p.S731S|NSD1_ENST00000354179.4_Silent_p.S731S	p.S1000S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3045	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1000					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.3000C>T	CCDS4412.1																																																																																				0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		5	188	0	0	0	1	0	5	188				
BAI3	577	broad.mit.edu	37	6	69703851	69703851	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:69703851C>A	ENST00000370598.1	+	11	2747	c.1926C>A	c.(1924-1926)gtC>gtA	p.V642V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	642					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGATGGTGTCCAGGTAAGGG	0.483																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1924-1926)gtC>gtA		brain-specific angiogenesis inhibitor 3							78.0	76.0	77.0					6																	69703851		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703851C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1926C>A	6.37:g.69703851C>A							p.V642V	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			11	2747	+		all_lung(197;0.212)	642					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1926C>A	CCDS4968.1																																																																																				0.483	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			17	58	1	0	3.57192e-18	1	4.79233e-18	17	58				
IGHV3-30	28439	broad.mit.edu	37	14	106791171	106791171	+	RNA	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:106791171T>A	ENST00000390613.2	-	0	264									immunoglobulin heavy variable 3-30																		CTCCAGCCCCTTGCCTGGAGC	0.547																																						ENST00000390613.2																			0																				111.0	185.0	161.0					14																	106791171		1979	4179	6158			28439							g.chr14:106791171T>A	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791171T>A														0	264	-									RNA	SNP	ENST00000390613.2	37																																																																																						0.547	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		54	503	0	0	0	1	0	54	503				
MUC16	94025	broad.mit.edu	37	19	9084378	9084378	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:9084378G>T	ENST00000397910.4	-	1	7640	c.7437C>A	c.(7435-7437)gtC>gtA	p.V2479V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2479	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCAGTGCTGACCATGGTGC	0.512											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(7435-7437)gtC>gtA		mucin 16, cell surface associated							73.0	75.0	74.0					19																	9084378		2200	4299	6499	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084378G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7437C>A	19.37:g.9084378G>T			OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	654		p.V2479V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	7640	-			2479			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.7437C>A	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	71	1	0	1.99824e-07	1	2.26561e-07	17	71				
GPR56	9289	broad.mit.edu	37	16	57695824	57695824	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:57695824G>T	ENST00000388812.4	+	13	2338	c.1898G>T	c.(1897-1899)gGc>gTc	p.G633V	GPR56_ENST00000379694.4_Missense_Mutation_p.G463V|GPR56_ENST00000540164.2_Missense_Mutation_p.G627V|GPR56_ENST00000388813.5_Missense_Mutation_p.G627V|GPR56_ENST00000562631.1_Missense_Mutation_p.G627V|GPR56_ENST00000562558.1_Missense_Mutation_p.G627V|GPR56_ENST00000568909.1_Missense_Mutation_p.G633V|GPR56_ENST00000379696.3_Missense_Mutation_p.G633V|GPR56_ENST00000456916.1_Missense_Mutation_p.G633V|GPR56_ENST00000544297.1_Missense_Mutation_p.G452V|GPR56_ENST00000568908.1_Missense_Mutation_p.G627V|GPR56_ENST00000538815.1_Missense_Mutation_p.G627V|GPR56_ENST00000567835.1_Missense_Mutation_p.G633V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	633					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TTTGCTTCTGGCACCTTCCAG	0.577																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1879-1881)gGc>gTc		G protein-coupled receptor 56							166.0	137.0	147.0					16																	57695824		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695824G>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1898G>T	16.37:g.57695824G>T	ENSP00000373464:p.Gly633Val					GPR56_ENST00000379694.4_Missense_Mutation_p.G463V|GPR56_ENST00000538815.1_Missense_Mutation_p.G627V|GPR56_ENST00000456916.1_Missense_Mutation_p.G633V|GPR56_ENST00000388812.4_Missense_Mutation_p.G633V|GPR56_ENST00000379696.3_Missense_Mutation_p.G633V|GPR56_ENST00000568908.1_Missense_Mutation_p.G627V|GPR56_ENST00000562558.1_Missense_Mutation_p.G627V|GPR56_ENST00000540164.2_Missense_Mutation_p.G627V|GPR56_ENST00000567835.1_Missense_Mutation_p.G633V|GPR56_ENST00000388813.5_Missense_Mutation_p.G627V|GPR56_ENST00000568909.1_Missense_Mutation_p.G633V|GPR56_ENST00000544297.1_Missense_Mutation_p.G452V	p.G627V			Q9Y653	GPR56_HUMAN			13	2412	+			633					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.1880G>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764773	0.69878	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.42900	1.18;0.96;1.18;0.96;1.18;0.96;0.96;0.96	5.28	5.28	0.74379	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000007	T	0.69522	0.3120	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.75654	-0.3243	10	0.87932	D	0	.	16.065	0.80865	0.0:0.0:1.0:0.0	.	452;632;627;633	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	V	627;633;627;633;627;452;463;633	ENSP00000373465:G627V;ENSP00000373464:G633V;ENSP00000444415:G627V;ENSP00000398034:G633V;ENSP00000444911:G627V;ENSP00000438006:G452V;ENSP00000369016:G463V;ENSP00000369018:G633V	ENSP00000369016:G463V	G	+	2	0	GPR56	56253325	1.000000	0.71417	0.987000	0.45799	0.769000	0.43574	4.597000	0.61062	2.465000	0.83290	0.585000	0.79938	GGC		0.577	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			19	65	1	0	8.00594e-06	1	8.79834e-06	19	65				
CDH5	1003	broad.mit.edu	37	16	66436634	66436634	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:66436634C>A	ENST00000341529.3	+	12	2065	c.1917C>A	c.(1915-1917)caC>caA	p.H639Q	CDH5_ENST00000539168.1_Missense_Mutation_p.H78Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	639					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CGGAGATCCACGAGCAGCTGG	0.697																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1915-1917)caC>caA		cadherin 5, type 2 (vascular endothelium)							24.0	24.0	24.0					16																	66436634		2192	4290	6482	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436634C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1917C>A	16.37:g.66436634C>A	ENSP00000344115:p.His639Gln					CDH5_ENST00000539168.1_Missense_Mutation_p.H78Q	p.H639Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2065	+		Ovarian(137;0.0955)	639					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1917C>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219757	0.58560	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.76709	-1.04;-1.04	5.32	0.473	0.16763	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.87378	0.6162	M	0.85859	2.78	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.86946	0.2082	9	0.87932	D	0	.	12.1669	0.54135	0.0:0.638:0.0:0.362	.	639	P33151	CADH5_HUMAN	Q	639;524;380;78	ENSP00000344115:H639Q;ENSP00000461880:H78Q	ENSP00000344115:H639Q	H	+	3	2	CDH5	64994135	0.318000	0.24598	0.998000	0.56505	0.887000	0.51463	-0.356000	0.07661	-0.008000	0.14320	-1.598000	0.00824	CAC		0.697	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		7	13	1	0	1.06961e-07	1	1.21702e-07	7	13				
LIG3	3980	broad.mit.edu	37	17	33321390	33321390	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:33321390T>G	ENST00000378526.4	+	9	1684	c.1551T>G	c.(1549-1551)caT>caG	p.H517Q	LIG3_ENST00000262327.5_Missense_Mutation_p.H517Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	517					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TCCAGGTGCATAAGAATGGAG	0.527								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1549-1551)caT>caG	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						231.0	171.0	191.0					17																	33321390		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33321390T>G		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1551T>G	17.37:g.33321390T>G	ENSP00000367787:p.His517Gln					LIG3_ENST00000262327.5_Missense_Mutation_p.H517Q	p.H517Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			9	1684	+		Ovarian(249;0.17)	517					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1551T>G	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041464	0.75732	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	D;D	0.83250	-1.7;-1.7	5.65	-0.34	0.12643	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	D	0.93657	0.7974	H	0.98965	4.385	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93022	0.6441	10	0.87932	D	0	-15.4203	11.2655	0.49108	0.0:0.4214:0.0:0.5786	.	517;517;517	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	Q	517	ENSP00000367787:H517Q;ENSP00000262327:H517Q	ENSP00000262327:H517Q	H	+	3	2	LIG3	30345503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.778000	0.26732	-0.013000	0.14199	0.533000	0.62120	CAT		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		16	61	0	0	0	1	0	16	61				
SLIT2	9353	broad.mit.edu	37	4	20530616	20530616	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:20530616G>T	ENST00000504154.1	+	16	1759	c.1507G>T	c.(1507-1509)Gat>Tat	p.D503Y	SLIT2_ENST00000273739.5_Missense_Mutation_p.D507Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D499Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.D495Y|MIR218-1_ENST00000384999.1_RNA	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	503	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGCTTTGCGGATCTGGCTTG	0.398																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1507-1509)Gat>Tat		slit homolog 2 (Drosophila)							120.0	122.0	121.0					4																	20530616		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530616G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1507G>T	4.37:g.20530616G>T	ENSP00000422591:p.Asp503Tyr					SLIT2_ENST00000503823.1_Missense_Mutation_p.D495Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D507Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D499Y	p.D503Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			16	1759	+			503			LRRNT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1507G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083966	0.76642	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.73708	0.981;0.947	T	0.60692	-0.7213	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	495;503	O94813-3;O94813	.;SLIT2_HUMAN	Y	495;503;507;499;499	ENSP00000427548:D495Y;ENSP00000422591:D503Y;ENSP00000273739:D507Y;ENSP00000422261:D499Y	ENSP00000273739:D507Y	D	+	1	0	SLIT2	20139714	1.000000	0.71417	0.987000	0.45799	0.974000	0.67602	9.467000	0.97671	2.798000	0.96311	0.655000	0.94253	GAT		0.398	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			12	99	1	0	0.010729	1	0.0110024	12	99				
ARPC1B	10095	broad.mit.edu	37	7	98988569	98988569	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:98988569G>T	ENST00000451682.1	+	8	863	c.554G>T	c.(553-555)tGg>tTg	p.W185L	ARPC1B_ENST00000252725.5_Missense_Mutation_p.W185L|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	185					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCCACCCCGTGGGGCTCCAAG	0.597																																						ENST00000451682.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(553-555)tGg>tTg		actin related protein 2/3 complex, subunit 1B, 41kDa							48.0	48.0	48.0					7																	98988569		2203	4300	6503	SO:0001583	missense	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98988569G>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.554G>T	7.37:g.98988569G>T	ENSP00000389631:p.Trp185Leu					ARPC1B_ENST00000252725.5_Missense_Mutation_p.W185L	p.W185L			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	863	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		185					Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	c.554G>T	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454848	0.96223	.	.	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84786	0.5549	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	D	0.87356	0.2341	10	0.66056	D	0.02	-19.0467	19.6814	0.95965	0.0:0.0:1.0:0.0	.	185;185	A4D275;O15143	.;ARC1B_HUMAN	L	185	ENSP00000252725:W185L;ENSP00000389631:W185L	ENSP00000252725:W185L	W	+	2	0	ARPC1B	98826505	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.764000	0.98949	2.754000	0.94517	0.561000	0.74099	TGG		0.597	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		10	59	1	0	3.07112e-06	1	3.4218e-06	10	59				
RIF1	55183	broad.mit.edu	37	2	152320477	152320477	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:152320477A>G	ENST00000243326.5	+	29	4926	c.4443A>G	c.(4441-4443)aaA>aaG	p.K1481K	RIF1_ENST00000428287.2_Silent_p.K1481K|RIF1_ENST00000444746.2_Silent_p.K1481K|RIF1_ENST00000453091.2_Silent_p.K1481K|RIF1_ENST00000430328.2_Silent_p.K1481K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAATTGAGAAAGGAAGTAATT	0.348																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4441-4443)aaA>aaG		RAP1 interacting factor homolog (yeast)							52.0	61.0	58.0					2																	152320477		2196	4295	6491	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320477A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4443A>G	2.37:g.152320477A>G						RIF1_ENST00000453091.2_Silent_p.K1481K|RIF1_ENST00000428287.2_Silent_p.K1481K|RIF1_ENST00000430328.2_Silent_p.K1481K|RIF1_ENST00000444746.2_Silent_p.K1481K	p.K1481K			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4926	+			1481					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.4443A>G	CCDS2194.1																																																																																				0.348	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			21	83	0	0	0	1	0	21	83				
ANKRD30A	91074	broad.mit.edu	37	10	37442498	37442498	+	Splice_Site	SNP	A	A	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:37442498A>C	ENST00000602533.1	+	13	1638		c.e13-1		ANKRD30A_ENST00000374660.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TACTTTTAACAGAGTCTCTGT	0.279																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.e13-1		ankyrin repeat domain 30A							76.0	80.0	79.0					10																	37442498		1789	4053	5842	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442498A>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1540-1A>C	10.37:g.37442498A>C						ANKRD30A_ENST00000602533.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site				Q9BXX3	AN30A_HUMAN			13	1638	+								Q5W025	Splice_Site	SNP	ENST00000602533.1	37			.	.	.	.	.	.	.	.	.	.	a	6.630	0.484747	0.12641	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	1.47	1.47	0.22746	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1116	0.14811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30A	37482504	1.000000	0.71417	0.660000	0.29694	0.023000	0.10783	2.319000	0.43788	0.941000	0.37499	0.315000	0.21342	.		0.279	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Intron	13	239	0	0	0	1	0	13	239				
MSH2	4436	broad.mit.edu	37	2	47637351	47637351	+	Missense_Mutation	SNP	G	G	T	rs63750773		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:47637351G>T	ENST00000233146.2	+	3	708	c.485G>T	c.(484-486)gGa>gTa	p.G162V	MSH2_ENST00000543555.1_Missense_Mutation_p.G96V|MSH2_ENST00000406134.1_Missense_Mutation_p.G162V	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	162			G -> A (in HNPCC1). {ECO:0000269|PubMed:17128465}.|G -> R (in HNPCC1; shows a decreased expression level of the MutS alpha complex and is associated with an abnormal subcellular localization pattern; affects protein stability; associated with an absence of the protein in tumors). {ECO:0000269|PubMed:15991316, ECO:0000269|PubMed:17101317}.		ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACAGGTTGGAGTTGGGTAT	0.438			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112	GRCh37	HM060002	MSH2	M	rs63750773	c.(484-486)gGa>gTa	Mismatch excision repair (MMR)	mutS homolog 2							323.0	309.0	314.0					2																	47637351		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47637351G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.485G>T	2.37:g.47637351G>T	ENSP00000233146:p.Gly162Val					MSH2_ENST00000233146.2_Missense_Mutation_p.G162V|MSH2_ENST00000543555.1_Missense_Mutation_p.G96V	p.G162V			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	547	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	162		G -> A (in HNPCC1).|G -> R (in HNPCC1; shows a decreased expression level of the MutS alpha complex and is associated with an abnormal subcellular localization pattern; affects protein stability; associated with an absence of the protein in tumors).			B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.485G>T	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999308	0.93227	.	.	ENSG00000095002	ENST00000233146;ENST00000454849;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.73	5.73	0.89815	DNA mismatch repair protein MutS, connector (1);	0.000000	0.85682	D	0.000000	D	0.98295	0.9435	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98965	1.0799	10	0.87932	D	0	-21.6562	19.9145	0.97053	0.0:0.0:1.0:0.0	.	96;162;162	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	V	162;96;96;162;162;162;162;162;162	ENSP00000233146:G162V;ENSP00000411482:G96V;ENSP00000442697:G96V;ENSP00000384199:G162V	ENSP00000233146:G162V	G	+	2	0	MSH2	47490855	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.791000	0.99081	2.707000	0.92482	0.603000	0.83216	GGA		0.438	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			79	260	1	0	1.91123e-38	1	2.79734e-38	79	260				
GSAP	54103	broad.mit.edu	37	7	77006657	77006657	+	Missense_Mutation	SNP	G	G	T	rs138204887	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:77006657G>T	ENST00000257626.7	-	9	705	c.627C>A	c.(625-627)ttC>ttA	p.F209L		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	209					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GAGCCCAAACGAAATCCTCAG	0.303																																						ENST00000257626.7																			0											c.(625-627)ttC>ttA		gamma-secretase activating protein							135.0	142.0	140.0					7																	77006657		2203	4300	6503	SO:0001583	missense	54103							g.chr7:77006657G>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.627C>A	7.37:g.77006657G>T	ENSP00000257626:p.Phe209Leu						p.F209L	NM_017439.3	NP_059135.2					9	705	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.627C>A	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246822	0.39697	.	.	ENSG00000186088	ENST00000257626	T	0.42513	0.97	5.45	1.52	0.23074	.	0.100707	0.39210	U	0.001424	T	0.29620	0.0739	L	0.43152	1.355	0.80722	D	1	P	0.37824	0.609	B	0.34991	0.193	T	0.03503	-1.1030	10	0.37606	T	0.19	.	8.1563	0.31171	0.684:0.0:0.316:0.0	.	209	A4D1B5	GSAP_HUMAN	L	209	ENSP00000257626:F209L	ENSP00000257626:F209L	F	-	3	2	PION	76844593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.927000	0.28818	0.330000	0.23485	-0.300000	0.09419	TTC		0.303	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		24	278	1	0	1.77063e-15	1	2.30827e-15	24	278				
ATP13A3	79572	broad.mit.edu	37	3	194167833	194167833	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:194167833C>T	ENST00000439040.1	-	14	2111	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	ATP13A3_ENST00000256031.4_Silent_p.G440G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	440						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAATTATGACCCCAACTTGTA	0.368																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1318-1320)ggG>ggA		ATPase type 13A3							52.0	48.0	49.0					3																	194167833		1854	4093	5947	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194167833C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1320G>A	3.37:g.194167833C>T						ATP13A3_ENST00000256031.4_Silent_p.G440G	p.G440G			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	14	2111	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	440					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.1320G>A	CCDS43187.1																																																																																				0.368	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		19	95	0	0	0	1	0	19	95				
CTAG2	30848	broad.mit.edu	37	X	153880551	153880551	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:153880551A>T	ENST00000247306.4	-	2	687	c.624T>A	c.(622-624)ccT>ccA	p.P208P	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	208						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTAAATGTGAGGGGCAGAGA	0.592																																						ENST00000247306.4																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(622-624)ccT>ccA		cancer/testis antigen 2							109.0	102.0	104.0					X																	153880551		2203	4298	6501	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153880551A>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.624T>A	X.37:g.153880551A>T						CTAG2_ENST00000369585.3_Intron	p.P208P	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			2	687	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		208					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.624T>A	CCDS14759.1																																																																																				0.592	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		28	29	0	0	0	1	0	28	29				
OR6T1	219874	broad.mit.edu	37	11	123814394	123814394	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:123814394A>T	ENST00000321252.2	-	1	186	c.152T>A	c.(151-153)aTa>aAa	p.I51K		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCGTTGGTCTATCCAGCTGAG	0.498																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(151-153)aTa>aAa		olfactory receptor, family 6, subfamily T, member 1							132.0	124.0	127.0					11																	123814394		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814394A>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.152T>A	11.37:g.123814394A>T	ENSP00000325203:p.Ile51Lys						p.I51K	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	186	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	51					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.152T>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	A	4.569	0.105648	0.08780	.	.	ENSG00000181499	ENST00000321252	T	0.02974	4.09	4.26	-3.3	0.05003	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02455	0.0075	L	0.28740	0.885	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.44236	-0.9341	9	0.87932	D	0	-1.2863	6.7934	0.23711	0.3727:0.1457:0.4816:0.0	.	51	Q8NGN1	OR6T1_HUMAN	K	51	ENSP00000325203:I51K	ENSP00000325203:I51K	I	-	2	0	OR6T1	123319604	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	-0.265000	0.08644	-0.569000	0.06030	-1.259000	0.01468	ATA		0.498	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		38	103	0	0	0	1	0	38	103				
OR2T33	391195	broad.mit.edu	37	1	248436851	248436851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248436851G>A	ENST00000318021.2	-	1	287	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GCGGGAGATGGCCTTACTTCC	0.567																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(265-267)gCc>gTc		olfactory receptor, family 2, subfamily T, member 33							90.0	81.0	84.0					1																	248436851		2203	4297	6500	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436851G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.266C>T	1.37:g.248436851G>A	ENSP00000324687:p.Ala89Val						p.A89V	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	287	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		89					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.266C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	2.887	-0.230437	0.05983	.	.	ENSG00000177212	ENST00000318021	T	0.00561	6.59	2.7	0.602	0.17535	GPCR, rhodopsin-like superfamily (1);	0.230196	0.22245	U	0.062632	T	0.00328	0.0010	N	0.17278	0.47	0.09310	N	1	B	0.29378	0.243	B	0.25987	0.065	T	0.47736	-0.9094	10	0.44086	T	0.13	.	3.7368	0.08514	0.1039:0.1607:0.5709:0.1645	.	89	Q8NG76	O2T33_HUMAN	V	89	ENSP00000324687:A89V	ENSP00000324687:A89V	A	-	2	0	OR2T33	246503474	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.074000	0.11450	-0.004000	0.14419	-0.495000	0.04643	GCC		0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	256	0	0	0	1	0	7	256				
SPATA7	55812	broad.mit.edu	37	14	88892630	88892630	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:88892630T>C	ENST00000393545.4	+	6	716	c.427T>C	c.(427-429)Ttt>Ctt	p.F143L	SPATA7_ENST00000045347.7_Missense_Mutation_p.F143L|SPATA7_ENST00000356583.5_Missense_Mutation_p.F111L|SPATA7_ENST00000556553.1_Missense_Mutation_p.F111L	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	143					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AATGAATGGATTTTCATCCTT	0.398																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(331-333)Ttt>Ctt		spermatogenesis associated 7							65.0	60.0	62.0					14																	88892630		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88892630T>C	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.427T>C	14.37:g.88892630T>C	ENSP00000377176:p.Phe143Leu					SPATA7_ENST00000356583.5_Missense_Mutation_p.F111L|SPATA7_ENST00000045347.7_Missense_Mutation_p.F143L|SPATA7_ENST00000393545.4_Missense_Mutation_p.F143L	p.F111L			Q9P0W8	SPAT7_HUMAN			6	890	+			143					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.331T>C	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736771	0.69304	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.17	3.99	0.46301	.	0.989213	0.08244	N	0.975720	T	0.22166	0.0534	M	0.64997	1.995	0.09310	N	1	P;B;P	0.51351	0.86;0.102;0.944	B;B;P	0.44561	0.356;0.055;0.453	T	0.12630	-1.0540	10	0.18276	T	0.48	-0.9748	10.3721	0.44060	0.0:0.0:0.3158:0.6842	.	111;111;143	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	L	111;143;111;86;129;143	ENSP00000451128:F111L;ENSP00000377176:F143L;ENSP00000348991:F111L;ENSP00000452435:F86L;ENSP00000450606:F129L;ENSP00000045347:F143L	ENSP00000045347:F143L	F	+	1	0	SPATA7	87962383	0.010000	0.17322	0.003000	0.11579	0.539000	0.34962	1.850000	0.39328	0.867000	0.35654	0.528000	0.53228	TTT		0.398	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			33	78	0	0	0	1	0	33	78				
PCDH17	27253	broad.mit.edu	37	13	58208702	58208702	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:58208702C>A	ENST00000377918.3	+	1	2048	c.2022C>A	c.(2020-2022)tcC>tcA	p.S674S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	674	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S674S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACCCTGTCCGCAGTGGCCA	0.667																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			1	Substitution - coding silent(1)	p.S674S(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2020-2022)tcC>tcA		protocadherin 17							86.0	84.0	85.0					13																	58208702		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208702C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2022C>A	13.37:g.58208702C>A							p.S674S	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2048	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	674			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2022C>A	CCDS31986.1																																																																																				0.667	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		55	143	1	0	1.46357e-32	1	2.12284e-32	55	143				
ENAM	10117	broad.mit.edu	37	4	71508279	71508279	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:71508279A>G	ENST00000396073.3	+	9	1417	c.1136A>G	c.(1135-1137)tAt>tGt	p.Y379C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	379					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAGTTTATCACAAAGCT	0.433																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1135-1137)tAt>tGt		enamelin							114.0	120.0	118.0					4																	71508279		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508279A>G	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1136A>G	4.37:g.71508279A>G	ENSP00000379383:p.Tyr379Cys					ENAM_ENST00000472903.1_Intron	p.Y379C	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1417	+			379					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1136A>G	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358553	0.24598	.	.	ENSG00000132464	ENST00000396073	T	0.40756	1.02	5.93	3.35	0.38373	.	0.123056	0.37577	N	0.002035	T	0.62478	0.2431	M	0.84846	2.72	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.54084	-0.8346	10	0.72032	D	0.01	-9.1319	6.7812	0.23646	0.6932:0.1568:0.0:0.15	.	379	Q9NRM1	ENAM_HUMAN	C	379	ENSP00000379383:Y379C	ENSP00000379383:Y379C	Y	+	2	0	ENAM	71727143	0.494000	0.26043	0.103000	0.21229	0.009000	0.06853	1.126000	0.31344	1.041000	0.40125	0.533000	0.62120	TAT		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		47	144	0	0	0	1	0	47	144				
SPTBN2	6712	broad.mit.edu	37	11	66472762	66472762	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66472762T>G	ENST00000533211.1	-	15	2316	c.1985A>C	c.(1984-1986)cAc>cCc	p.H662P	SPTBN2_ENST00000529997.1_Missense_Mutation_p.H662P|SPTBN2_ENST00000309996.2_Missense_Mutation_p.H662P			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	662					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCCAGGAGGTGCTGCTGCTC	0.721																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1984-1986)cAc>cCc		spectrin, beta, non-erythrocytic 2							7.0	10.0	9.0					11																	66472762		2107	4173	6280	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472762T>G	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1985A>C	11.37:g.66472762T>G	ENSP00000432568:p.His662Pro					SPTBN2_ENST00000529997.1_Missense_Mutation_p.H662P|SPTBN2_ENST00000309996.2_Missense_Mutation_p.H662P	p.H662P			O15020	SPTN2_HUMAN			15	2316	-			662					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.1985A>C	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227423	0.39399	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.47528	0.84;0.84;0.84	4.55	4.55	0.56014	.	0.063428	0.64402	D	0.000004	T	0.18509	0.0444	N	0.01493	-0.835	0.36830	D	0.886832	B	0.06786	0.001	B	0.11329	0.006	T	0.14364	-1.0475	10	0.21014	T	0.42	.	7.8237	0.29303	0.0:0.0956:0.0:0.9044	.	662	O15020	SPTN2_HUMAN	P	662	ENSP00000432568:H662P;ENSP00000311489:H662P;ENSP00000433593:H662P	ENSP00000311489:H662P	H	-	2	0	SPTBN2	66229338	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.995000	0.49441	1.904000	0.55121	0.402000	0.26972	CAC		0.721	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		6	22	0	0	0	1	0	6	22				
ASIC2	40	broad.mit.edu	37	17	31618634	31618634	+	Intron	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:31618634G>C	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Missense_Mutation_p.A167G|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	AAGCGGGCGCGCGGTGCGGTT	0.701																																						ENST00000225823.2																			0											c.(499-501)gCg>gGg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						9.0	11.0	10.0					17																	31618634		2095	4119	6214	SO:0001627	intron_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31618634G>C	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179549C>G	17.37:g.31618634G>C						ASIC2_ENST00000359872.6_Intron	p.A167G	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			1	1372	-			129					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.500C>G	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	5.768	0.326021	0.10900	.	.	ENSG00000108684	ENST00000225823	T	0.63096	-0.02	4.6	3.62	0.41486	.	0.240027	0.36482	N	0.002562	T	0.47563	0.1452	L	0.28649	0.875	0.80722	D	1	B	0.25007	0.116	B	0.29942	0.109	T	0.33445	-0.9868	10	0.12103	T	0.63	2.114	12.4276	0.55556	0.0:0.1708:0.8292:0.0	.	167	E9PBX2	.	G	167	ENSP00000225823:A167G	ENSP00000225823:A167G	A	-	2	0	ACCN1	28642747	1.000000	0.71417	0.989000	0.46669	0.747000	0.42532	5.560000	0.67332	2.376000	0.81061	0.313000	0.20887	GCG		0.701	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		5	20	0	0	0	1	0	5	20				
STARD4	134429	broad.mit.edu	37	5	110835647	110835647	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413																																						ENST00000296632.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12						c.(553-555)gcG>gcA		StAR-related lipid transfer (START) domain containing 4							171.0	161.0	164.0					5																	110835647		2202	4300	6502	SO:0001819	synonymous_variant	134429				lipid transport		lipid binding	g.chr5:110835647C>T	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.555G>A	5.37:g.110835647C>T						STARD4_ENST00000512160.1_3'UTR	p.A185A	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	689	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	185			START.		Q86TN9	Silent	SNP	ENST00000296632.3	37	c.555G>A	CCDS4104.1																																																																																				0.413	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		58	85	0	0	0	1	0	58	85				
HS3ST4	9951	broad.mit.edu	37	16	26147116	26147116	+	Silent	SNP	C	C	T	rs557934955		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:26147116C>T	ENST00000331351.5	+	2	1310	c.918C>T	c.(916-918)ccC>ccT	p.P306P	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	306					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAGAAACCCGAGATCCCCA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		17453	0.0		0.0	False		,,,				2504	0.001					ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(916-918)ccC>ccT		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							153.0	145.0	148.0					16																	26147116		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147116C>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.918C>T	16.37:g.26147116C>T						HS3ST4_ENST00000475436.1_3'UTR	p.P306P	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1310	+			306					Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.918C>T	CCDS53995.1																																																																																				0.542	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		52	151	0	0	0	1	0	52	151				
FN3KRP	79672	broad.mit.edu	37	17	80684842	80684842	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:80684842C>T	ENST00000269373.6	+	6	798	c.725C>T	c.(724-726)tCg>tTg	p.S242L	FN3KRP_ENST00000535965.1_Missense_Mutation_p.S192L|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	242							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TACGGCCACTCGGAATATGAG	0.552																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(724-726)tCg>tTg		fructosamine 3 kinase related protein							60.0	64.0	63.0					17																	80684842		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80684842C>T	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.725C>T	17.37:g.80684842C>T	ENSP00000269373:p.Ser242Leu					FN3KRP_ENST00000535965.1_Missense_Mutation_p.S192L	p.S242L	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	798	+	Breast(20;0.000523)|all_neural(118;0.0952)		242					Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.725C>T	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290493	0.80914	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.49720	0.77;0.77	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.117275	0.64402	D	0.000010	T	0.65842	0.2730	M	0.87456	2.885	0.80722	D	1	P	0.52170	0.951	P	0.49502	0.613	T	0.71659	-0.4526	10	0.59425	D	0.04	-9.2754	19.6844	0.95976	0.0:1.0:0.0:0.0	.	242	Q9HA64	KT3K_HUMAN	L	242;192	ENSP00000269373:S242L;ENSP00000444994:S192L	ENSP00000269373:S242L	S	+	2	0	FN3KRP	78278131	1.000000	0.71417	0.995000	0.50966	0.177000	0.22998	7.627000	0.83176	2.761000	0.94854	0.655000	0.94253	TCG		0.552	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		37	101	0	0	0	1	0	37	101				
STAB1	23166	broad.mit.edu	37	3	52556869	52556869	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:52556869T>A	ENST00000321725.6	+	62	6899	c.6823T>A	c.(6823-6825)Tgt>Agt	p.C2275S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2275	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGGCGGACTGTGGCAATGG	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6823-6825)Tgt>Agt		stabilin 1							96.0	98.0	97.0					3																	52556869		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556869T>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6823T>A	3.37:g.52556869T>A	ENSP00000312946:p.Cys2275Ser						p.C2275S	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	62	6899	+			2275			Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6823T>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.106298	0.56291	.	.	ENSG00000010327	ENST00000321725	T	0.23552	1.9	5.84	5.84	0.93424	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	H	0.97365	3.99	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.77656	-0.2506	10	0.56958	D	0.05	.	14.1881	0.65620	0.0:0.0:0.0:1.0	.	162;2275	B3KSK0;Q9NY15	.;STAB1_HUMAN	S	2275	ENSP00000312946:C2275S	ENSP00000312946:C2275S	C	+	1	0	STAB1	52531909	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	4.309000	0.59135	2.234000	0.73211	0.454000	0.30748	TGT		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		34	64	0	0	0	1	0	34	64				
TP53	7157	broad.mit.edu	37	17	7579373	7579373	+	Missense_Mutation	SNP	C	C	A	rs587781504		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:7579373C>A	ENST00000269305.4	-	4	503	c.314G>T	c.(313-315)gGc>gTc	p.G105V	TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000455263.2_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V|TP53_ENST00000359597.4_Missense_Mutation_p.G105V|TP53_ENST00000420246.2_Missense_Mutation_p.G105V|TP53_ENST00000574684.1_5'Flank	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	ACCGTAGCTGCCCTGGTAGGT	0.622		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"""		28	Deletion - Frameshift(11)|Whole gene deletion(8)|Substitution - Missense(6)|Complex - deletion inframe(2)|Deletion - In frame(1)	p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	lung(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|large_intestine(2)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(313-315)gGc>gTc	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	55.0					17																	7579373		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.chr17:7579373C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.314G>T	17.37:g.7579373C>A	ENSP00000269305:p.Gly105Val	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_ENST00000359597.4_Missense_Mutation_p.G105V|TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000269305.4_Missense_Mutation_p.G105V|TP53_ENST00000455263.2_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V	p.G105V	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)	4	446	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	105		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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.314G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486008	0.63962	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.75	4.75	0.60458	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	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.995;1.0;0.999;0.996;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	105	ENSP00000410739:G105V;ENSP00000352610:G105V;ENSP00000269305:G105V;ENSP00000398846:G105V;ENSP00000391127:G105V;ENSP00000391478:G105V;ENSP00000424104:G105V;ENSP00000426252:G105V	ENSP00000269305:G105V	G	-	2	0	TP53	7520098	1.000000	0.71417	0.208000	0.23602	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	77	1	0	1.02788e-11	1	1.27791e-11	17	77				
RP1	6101	broad.mit.edu	37	8	55541215	55541215	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:55541215G>C	ENST00000220676.1	+	4	4921	c.4773G>C	c.(4771-4773)tgG>tgC	p.W1591C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1591					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTCTGATTGGTCAGACTATC	0.398																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4771-4773)tgG>tgC		retinitis pigmentosa 1 (autosomal dominant)							63.0	63.0	63.0					8																	55541215		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541215G>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4773G>C	8.37:g.55541215G>C	ENSP00000220676:p.Trp1591Cys						p.W1591C	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4921	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1591						Missense_Mutation	SNP	ENST00000220676.1	37	c.4773G>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942157	0.18281	.	.	ENSG00000104237	ENST00000220676	T	0.70749	-0.51	5.74	2.82	0.32997	.	0.278923	0.26255	N	0.025422	T	0.60586	0.2280	L	0.55834	1.745	0.50313	D	0.999867	B	0.28783	0.222	B	0.25759	0.063	T	0.56962	-0.7892	10	0.44086	T	0.13	0.0459	7.2585	0.26189	0.0673:0.1242:0.6796:0.1289	.	1591	P56715	RP1_HUMAN	C	1591	ENSP00000220676:W1591C	ENSP00000220676:W1591C	W	+	3	0	RP1	55703768	1.000000	0.71417	0.972000	0.41901	0.817000	0.46193	2.517000	0.45529	0.765000	0.33221	0.655000	0.94253	TGG		0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		25	76	0	0	0	1	0	25	76				
INTS4L2	644619	broad.mit.edu	37	7	65160093	65160093	+	RNA	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:65160093A>T	ENST00000430126.2	+	0	1263							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		AGTCTTCAGCACTTGGACCCT	0.507																																						ENST00000430126.2																			0																																																			644619							g.chr7:65160093A>T	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65160093A>T														0	1263	+									RNA	SNP	ENST00000430126.2	37																																																																																						0.507	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		24	42	0	0	0	1	0	24	42				
OR2A2	442361	broad.mit.edu	37	7	143806861	143806861	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:143806861C>T	ENST00000408979.2	+	1	255	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACTTCTTCCTCTCACACCTGG	0.458																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(184-186)ctC>ctT		olfactory receptor, family 2, subfamily A, member 2							217.0	213.0	214.0					7																	143806861		2109	4256	6365	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806861C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.186C>T	7.37:g.143806861C>T							p.L62L	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	255	+	Melanoma(164;0.0783)		62					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.186C>T	CCDS43671.1																																																																																				0.458	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			61	188	0	0	0	1	0	61	188				
SORBS2	8470	broad.mit.edu	37	4	186567895	186567895	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:186567895T>A	ENST00000284776.7	-	10	1120	c.611A>T	c.(610-612)aAa>aTa	p.K204I	SORBS2_ENST00000448662.2_Missense_Mutation_p.K273I|SORBS2_ENST00000393528.3_Missense_Mutation_p.K250I|SORBS2_ENST00000449407.2_Missense_Mutation_p.K275I|SORBS2_ENST00000355634.5_Missense_Mutation_p.K304I|SORBS2_ENST00000418609.1_Missense_Mutation_p.K108I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.K290I|SORBS2_ENST00000431808.1_Missense_Mutation_p.K204I|SORBS2_ENST00000437304.2_Missense_Mutation_p.K383I	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	204					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGACCGAAATTTTCTTGTGTC	0.353																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(610-612)aAa>aTa		sorbin and SH3 domain containing 2							112.0	112.0	112.0					4																	186567895		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186567895T>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.611A>T	4.37:g.186567895T>A	ENSP00000284776:p.Lys204Ile					SORBS2_ENST00000437304.2_Missense_Mutation_p.K383I|SORBS2_ENST00000355634.5_Missense_Mutation_p.K304I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.K290I|SORBS2_ENST00000449407.2_Missense_Mutation_p.K275I|SORBS2_ENST00000393528.3_Missense_Mutation_p.K250I|SORBS2_ENST00000448662.2_Missense_Mutation_p.K273I|SORBS2_ENST00000418609.1_Missense_Mutation_p.K108I|SORBS2_ENST00000284776.7_Missense_Mutation_p.K204I	p.K204I			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	11	1174	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	204					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.611A>T	CCDS3845.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	20.9|20.9|20.9	4.060590|4.060590|4.060590	0.76074|0.76074|0.76074	.|.|.	.|.|.	ENSG00000154556|ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974|ENST00000438278|ENST00000445625	T;T;T;T;T;T;T;T;T;T;T|.|.	0.35605|.|.	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3|.|.	5.25|5.25|5.25	2.76|2.76|2.76	0.32466|0.32466|0.32466	.|.|.	0.091871|0.091871|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.59514|0.59514|0.59514	0.2199|0.2199|0.2199	L|L|L	0.58810|0.58810|0.58810	1.83|1.83|1.83	0.43321|0.43321|0.43321	D|D|D	0.995341|0.995341|0.995341	P;D;D;P;P;D;D;D;D;P;P;D;P;D;P;D|.|.	0.76494|.|.	0.574;0.999;0.977;0.88;0.93;0.977;0.96;0.976;0.961;0.88;0.929;0.998;0.921;0.963;0.952;0.999|.|.	P;D;P;P;P;D;P;P;P;P;P;D;P;P;P;D|.|.	0.80764|.|.	0.677;0.983;0.866;0.812;0.723;0.937;0.836;0.857;0.797;0.677;0.83;0.994;0.775;0.76;0.888;0.986|.|.	T|T|T	0.55786|0.55786|0.55786	-0.8086|-0.8086|-0.8086	10|6|5	0.87932|.|.	D|.|.	0|.|.	-27.594|-27.594|-27.594	8.4659|8.4659|8.4659	0.32956|0.32956|0.32956	0.0:0.2164:0.0:0.7836|0.0:0.2164:0.0:0.7836|0.0:0.2164:0.0:0.7836	.|.|.	267;250;273;108;123;123;108;250;304;204;275;383;273;250;204;250|.|.	B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-6;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.|.	.;.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.|.	I|N|Y	204;273;204;108;383;290;275;304;250;250;61|147|102	ENSP00000284776:K204I;ENSP00000409158:K273I;ENSP00000411764:K204I;ENSP00000397482:K108I;ENSP00000396008:K383I;ENSP00000322182:K290I;ENSP00000397262:K275I;ENSP00000347852:K304I;ENSP00000377162:K250I;ENSP00000321983:K250I;ENSP00000401818:K61I|.|.	ENSP00000284776:K204I|.|.	K|K|N	-|-|-	2|3|1	0|2|0	SORBS2|SORBS2|SORBS2	186804889|186804889|186804889	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	3.051000|3.051000|3.051000	0.49885|0.49885|0.49885	1.003000|1.003000|1.003000	0.39130|0.39130|0.39130	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAA|AAT		0.353	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		42	116	0	0	0	1	0	42	116				
PKD2L1	9033	broad.mit.edu	37	10	102053067	102053067	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:102053067C>T	ENST00000318222.3	-	10	2111	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E577K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E502K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	577					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGTTGCAGCTCATCCTTCTGT	0.502																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1729-1731)Gag>Aag		polycystic kidney disease 2-like 1							215.0	173.0	187.0					10																	102053067		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102053067C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1729G>A	10.37:g.102053067C>T	ENSP00000325296:p.Glu577Lys					PKD2L1_ENST00000338519.3_Missense_Mutation_p.E502K|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E577K	p.E577K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	10	2111	-		Colorectal(252;0.117)	577					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1729G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789871	0.70337	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.63096	0.18;-0.02;0.04	5.83	3.95	0.45737	.	0.095805	0.64402	N	0.000001	T	0.61464	0.2349	M	0.74467	2.265	0.42403	D	0.992578	B;B	0.24618	0.107;0.046	B;B	0.27262	0.059;0.078	T	0.59762	-0.7393	10	0.48119	T	0.1	-12.9645	10.4673	0.44616	0.0:0.7882:0.1391:0.0727	.	530;577	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	K	502;577;577;575	ENSP00000345068:E502K;ENSP00000266049:E577K;ENSP00000325296:E577K	ENSP00000325296:E577K	E	-	1	0	PKD2L1	102043057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.054000	0.57434	0.789000	0.33779	0.655000	0.94253	GAG		0.502	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		22	96	0	0	0	1	0	22	96				
MYCBP2	23077	broad.mit.edu	37	13	77870791	77870791	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:77870791A>G	ENST00000544440.2	-	2	224	c.207T>C	c.(205-207)aaT>aaC	p.N69N	MYCBP2_ENST00000357337.6_Silent_p.N69N|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.N107N					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTTCTTCTTATTTAAAATTT	0.269																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(319-321)aaT>aaC		MYC binding protein 2, E3 ubiquitin protein ligase							80.0	71.0	74.0					13																	77870791		2199	4294	6493	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77870791A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.207T>C	13.37:g.77870791A>G						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.N69N|MYCBP2_ENST00000544440.2_Silent_p.N69N	p.N107N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	2	587	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	69						Silent	SNP	ENST00000544440.2	37	c.321T>C																																																																																					0.269	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	18	0	0	0	1	0	7	18				
PDK4	5166	broad.mit.edu	37	7	95221311	95221311	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:95221311G>T	ENST00000005178.5	-	6	880	c.683C>A	c.(682-684)aCa>aAa	p.T228K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	228	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTCACTTGTGTAAGCTTTAA	0.289																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(682-684)aCa>aAa		pyruvate dehydrogenase kinase, isozyme 4							65.0	74.0	71.0					7																	95221311		2203	4287	6490	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95221311G>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.683C>A	7.37:g.95221311G>T	ENSP00000005178:p.Thr228Lys						p.T228K	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	880	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		228			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.683C>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770399	0.15983	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.30182	1.54	5.41	5.41	0.78517	ATPase-like, ATP-binding domain (2);	0.404030	0.29609	N	0.011663	T	0.15478	0.0373	N	0.05383	-0.06	0.38247	D	0.941487	B	0.02656	0.0	B	0.01281	0.0	T	0.17107	-1.0380	10	0.18276	T	0.48	.	11.572	0.50839	0.0:0.1336:0.728:0.1384	.	228	Q16654	PDK4_HUMAN	K	228;192	ENSP00000005178:T228K	ENSP00000005178:T228K	T	-	2	0	PDK4	95059247	0.007000	0.16637	1.000000	0.80357	0.808000	0.45660	0.834000	0.27518	2.710000	0.92621	0.491000	0.48974	ACA		0.289	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		44	142	1	0	5.20006e-24	1	7.40894e-24	44	142				
ZDHHC12	84885	broad.mit.edu	37	9	131483930	131483930	+	Splice_Site	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:131483930C>T	ENST00000372663.4	-	4	494	c.482G>A	c.(481-483)tGg>tAg	p.W161*	ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Splice_Site_p.W161*|ZDHHC12_ENST00000372667.5_Splice_Site_p.W175*|RP11-545E17.3_ENST00000443631.1_RNA	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	161					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CAGCACCCACCATGCCAGGTA	0.647																																						ENST00000372667.5																			0				central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						c.e4+1		zinc finger, DHHC-type containing 12							139.0	135.0	136.0					9																	131483930		2203	4300	6503	SO:0001630	splice_region_variant	84885					integral to membrane	acyltransferase activity|zinc ion binding	g.chr9:131483930C>T	AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.482+1G>A	9.37:g.131483930C>T						ZDHHC12_ENST00000372663.4_Splice_Site_p.W161_splice|ZDHHC12_ENST00000372672.2_Splice_Site_p.W161_splice|ZDHHC12_ENST00000467312.1_5'UTR	p.W175_splice			Q96GR4	ZDH12_HUMAN			4	553	-			161					A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Splice_Site	SNP	ENST00000372663.4	37	c.524_splice	CCDS6909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.81|13.81	2.346876|2.346876	0.41599|0.41599	.|.	.|.	ENSG00000160446|ENSG00000160446	ENST00000452105|ENST00000372663;ENST00000372672;ENST00000372667;ENST00000372664	T|.	0.28666|.	1.6|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.209202	.|0.44688	.|D	.|0.000437	T|.	0.70894|.	0.3276|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.70633|.	-0.4818|.	5|.	.|.	.|.	.|.	.|.	15.1552|15.1552	0.72735|0.72735	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	Y|X	161|161;161;175;161	ENSP00000387587:C161Y|.	.|.	C|W	-|-	2|2	0|0	ZDHHC12|ZDHHC12	130523751|130523751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.355000|0.355000	0.29361|0.29361	5.230000|5.230000	0.65321|0.65321	2.168000|2.168000	0.68352|0.68352	0.462000|0.462000	0.41574|0.41574	TGC|TGG		0.647	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054484.1	NM_032799	Nonsense_Mutation	31	171	0	0	0	1	0	31	171				
CUX2	23316	broad.mit.edu	37	12	111742075	111742075	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:111742075G>C	ENST00000261726.6	+	10	969	c.815G>C	c.(814-816)aGc>aCc	p.S272T	AC002979.1_ENST00000408459.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	272					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTGTCAACAGCTCCATCCGC	0.652																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(814-816)aGc>aCc		cut-like homeobox 2							44.0	52.0	50.0					12																	111742075		2041	4183	6224	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111742075G>C	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.815G>C	12.37:g.111742075G>C	ENSP00000261726:p.Ser272Thr						p.S272T	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			10	969	+			272					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.815G>C	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383991	0.42308	.	.	ENSG00000111249	ENST00000261726	T	0.47177	0.85	4.8	4.8	0.61643	.	0.215254	0.56097	D	0.000037	T	0.35856	0.0946	L	0.53249	1.67	0.36325	D	0.858498	P	0.44734	0.842	B	0.31442	0.13	T	0.49103	-0.8974	10	0.30078	T	0.28	-21.2846	11.7171	0.51659	0.0816:0.0:0.9184:0.0	.	272	O14529	CUX2_HUMAN	T	272	ENSP00000261726:S272T	ENSP00000261726:S272T	S	+	2	0	CUX2	110226458	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.784000	0.62411	2.386000	0.81285	0.467000	0.42956	AGC		0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		5	26	0	0	0	1	0	5	26				
PRDM9	56979	broad.mit.edu	37	5	23524474	23524474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:23524474C>T	ENST00000296682.3	+	10	1164	c.982C>T	c.(982-984)Cag>Tag	p.Q328*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	328	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGATGAAGAGCAGAACCTGGT	0.527										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(982-984)Cag>Tag		PR domain containing 9							72.0	72.0	72.0					5																	23524474		1909	4109	6018	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524474C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.982C>T	5.37:g.23524474C>T	ENSP00000296682:p.Gln328*	HNSCC(3;0.000094)					p.Q328*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			10	1164	+			328			SET.		B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.982C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	37	6.419923	0.97550	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	4.23	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.8417	9.6457	0.39865	0.2094:0.7906:0.0:0.0	.	.	.	.	X	328;122	.	ENSP00000253473:Q122X	Q	+	1	0	PRDM9	23560231	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.402000	0.34600	0.880000	0.35969	-0.257000	0.10917	CAG		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		24	106	0	0	0	1	0	24	106				
KIAA1551	55196	broad.mit.edu	37	12	32134419	32134419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:32134419C>T	ENST00000312561.4	+	4	944	c.530C>T	c.(529-531)cCt>cTt	p.P177L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	177																	ACACGACTTCCTGTAGCTTAC	0.423																																						ENST00000312561.4																			0											c.(529-531)cCt>cTt		KIAA1551							95.0	90.0	92.0					12																	32134419		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32134419C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.530C>T	12.37:g.32134419C>T	ENSP00000310338:p.Pro177Leu					KIAA1551_ENST00000535596.1_Intron	p.P177L	NM_018169.3	NP_060639.3					4	944	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.530C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287930	0.59976	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08282	3.11;3.11	5.57	4.68	0.58851	.	0.259421	0.28360	N	0.015640	T	0.09774	0.0240	L	0.36672	1.1	0.09310	N	1	D	0.55385	0.971	P	0.47786	0.557	T	0.16424	-1.0403	9	.	.	.	.	9.2132	0.37331	0.0:0.7747:0.146:0.0792	.	177	Q9HCM1	CL035_HUMAN	L	177	ENSP00000310338:P177L;ENSP00000370442:P177L	.	P	+	2	0	C12orf35	32025686	0.000000	0.05858	0.131000	0.22000	0.010000	0.07245	0.419000	0.21247	1.331000	0.45412	0.650000	0.86243	CCT		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		22	98	0	0	0	1	0	22	98				
GPR56	9289	broad.mit.edu	37	16	57695823	57695823	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:57695823G>T	ENST00000388812.4	+	13	2337	c.1897G>T	c.(1897-1899)Ggc>Tgc	p.G633C	GPR56_ENST00000379694.4_Missense_Mutation_p.G463C|GPR56_ENST00000540164.2_Missense_Mutation_p.G627C|GPR56_ENST00000388813.5_Missense_Mutation_p.G627C|GPR56_ENST00000562631.1_Missense_Mutation_p.G627C|GPR56_ENST00000562558.1_Missense_Mutation_p.G627C|GPR56_ENST00000568909.1_Missense_Mutation_p.G633C|GPR56_ENST00000379696.3_Missense_Mutation_p.G633C|GPR56_ENST00000456916.1_Missense_Mutation_p.G633C|GPR56_ENST00000544297.1_Missense_Mutation_p.G452C|GPR56_ENST00000568908.1_Missense_Mutation_p.G627C|GPR56_ENST00000538815.1_Missense_Mutation_p.G627C|GPR56_ENST00000567835.1_Missense_Mutation_p.G633C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	633					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTTTGCTTCTGGCACCTTCCA	0.577																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1879-1881)Ggc>Tgc		G protein-coupled receptor 56							165.0	136.0	146.0					16																	57695823		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695823G>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1897G>T	16.37:g.57695823G>T	ENSP00000373464:p.Gly633Cys					GPR56_ENST00000379694.4_Missense_Mutation_p.G463C|GPR56_ENST00000538815.1_Missense_Mutation_p.G627C|GPR56_ENST00000456916.1_Missense_Mutation_p.G633C|GPR56_ENST00000388812.4_Missense_Mutation_p.G633C|GPR56_ENST00000379696.3_Missense_Mutation_p.G633C|GPR56_ENST00000568908.1_Missense_Mutation_p.G627C|GPR56_ENST00000562558.1_Missense_Mutation_p.G627C|GPR56_ENST00000540164.2_Missense_Mutation_p.G627C|GPR56_ENST00000567835.1_Missense_Mutation_p.G633C|GPR56_ENST00000388813.5_Missense_Mutation_p.G627C|GPR56_ENST00000568909.1_Missense_Mutation_p.G633C|GPR56_ENST00000544297.1_Missense_Mutation_p.G452C	p.G627C			Q9Y653	GPR56_HUMAN			13	2411	+			633					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.1879G>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302778	0.81136	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.44881	1.24;0.91;1.24;0.91;1.24;0.91;0.91;0.91	5.28	5.28	0.74379	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000007	T	0.70439	0.3224	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76523	-0.2928	10	0.87932	D	0	.	17.8972	0.88892	0.0:0.0:1.0:0.0	.	452;632;627;633	F5H144;B4DR54;Q9Y653-2;Q9Y653	.;.;.;GPR56_HUMAN	C	627;633;627;633;627;452;463;633	ENSP00000373465:G627C;ENSP00000373464:G633C;ENSP00000444415:G627C;ENSP00000398034:G633C;ENSP00000444911:G627C;ENSP00000438006:G452C;ENSP00000369016:G463C;ENSP00000369018:G633C	ENSP00000369016:G463C	G	+	1	0	GPR56	56253324	1.000000	0.71417	0.980000	0.43619	0.776000	0.43924	7.116000	0.77119	2.465000	0.83290	0.585000	0.79938	GGC		0.577	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			18	61	1	0	7.07596e-05	1	7.67158e-05	18	61				
CD163L1	283316	broad.mit.edu	37	12	7528460	7528460	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:7528460G>T	ENST00000313599.3	-	10	2579	c.2522C>A	c.(2521-2523)gCc>gAc	p.A841D	CD163L1_ENST00000396630.1_Missense_Mutation_p.A841D|CD163L1_ENST00000416109.2_Missense_Mutation_p.A851D|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	841	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGAGATATGGCATCTCCACA	0.453																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2521-2523)gCc>gAc		CD163 molecule-like 1							109.0	105.0	106.0					12																	7528460		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528460G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2522C>A	12.37:g.7528460G>T	ENSP00000315945:p.Ala841Asp					CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A851D|CD163L1_ENST00000396630.1_Missense_Mutation_p.A841D	p.A841D			Q9NR16	C163B_HUMAN			10	2579	-			841			SRCR 8.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2522C>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393243	0.62066	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.84	-0.25	0.13007	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.489617	0.16269	U	0.221865	T	0.64216	0.2578	H	0.95260	3.645	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.972	T	0.54063	-0.8349	10	0.66056	D	0.02	.	6.5084	0.22208	0.379:0.0:0.621:0.0	.	851;841	E7EVK4;Q9NR16	.;C163B_HUMAN	D	841;851;841	ENSP00000315945:A841D;ENSP00000393474:A851D;ENSP00000379871:A841D	ENSP00000315945:A841D	A	-	2	0	CD163L1	7419727	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	0.010000	0.13242	-0.207000	0.10187	0.455000	0.32223	GCC		0.453	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		26	81	1	0	9.80776e-20	1	1.33253e-19	26	81				
B4GALT1	2683	broad.mit.edu	37	9	33113455	33113455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:33113455G>C	ENST00000379731.4	-	6	1380	c.1194C>G	c.(1192-1194)agC>agG	p.S398R	B4GALT1_ENST00000541851.1_Missense_Mutation_p.S145R|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	398					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CAAAACGCTAGCTCGGTGTCC	0.498																																						ENST00000379731.4																			0				endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14						c.(1192-1194)agC>agG		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	N-Acetyl-D-glucosamine(DB00141)						190.0	148.0	162.0					9																	33113455		2203	4300	6503	SO:0001583	missense	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33113455G>C	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.1194C>G	9.37:g.33113455G>C	ENSP00000369055:p.Ser398Arg					B4GALT1_ENST00000541851.1_Missense_Mutation_p.S145R|B4GALT1_ENST00000535206.1_Intron	p.S398R	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	6	1380	-			398					B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	c.1194C>G	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	G	9.581	1.123637	0.20959	.	.	ENSG00000086062	ENST00000379731;ENST00000541701;ENST00000541851	T;T	0.52526	0.82;0.66	6.08	2.82	0.32997	.	0.233454	0.46145	N	0.000312	T	0.32912	0.0845	L	0.52364	1.645	0.27973	N	0.936344	B	0.33494	0.414	B	0.20955	0.032	T	0.34725	-0.9817	10	0.59425	D	0.04	-5.3066	5.2624	0.15582	0.0972:0.0:0.5181:0.3847	.	398	P15291	B4GT1_HUMAN	R	398;355;145	ENSP00000369055:S398R;ENSP00000445037:S145R	ENSP00000369055:S398R	S	-	3	2	B4GALT1	33103455	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	1.071000	0.30666	1.523000	0.49018	0.655000	0.94253	AGC		0.498	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		10	182	0	0	0	1	0	10	182				
NRG3	10718	broad.mit.edu	37	10	84733562	84733562	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:84733562C>A	ENST00000404547.1	+	7	1303	c.1303C>A	c.(1303-1305)Cat>Aat	p.H435N	NRG3_ENST00000545131.1_Missense_Mutation_p.H85N|NRG3_ENST00000372141.2_Missense_Mutation_p.H435N|NRG3_ENST00000537893.1_Missense_Mutation_p.H85N|NRG3_ENST00000404576.2_Missense_Mutation_p.H239N|NRG3_ENST00000372142.2_Missense_Mutation_p.H214N|NRG3_ENST00000556918.1_Missense_Mutation_p.H265N			P56975	NRG3_HUMAN	neuregulin 3	435					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGTGGAAAGGCATCCTGTGAC	0.478																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(640-642)Cat>Aat		neuregulin 3							134.0	118.0	124.0					10																	84733562		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733562C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1303C>A	10.37:g.84733562C>A	ENSP00000384796:p.His435Asn					NRG3_ENST00000545131.1_Missense_Mutation_p.H85N|NRG3_ENST00000537893.1_Missense_Mutation_p.H85N|NRG3_ENST00000372141.2_Missense_Mutation_p.H435N|NRG3_ENST00000556918.1_Missense_Mutation_p.H265N|NRG3_ENST00000404547.1_Missense_Mutation_p.H435N|NRG3_ENST00000404576.2_Missense_Mutation_p.H239N	p.H214N	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	914	+			435			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.640C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	8.789	0.930075	0.18131	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.53423	1.58;1.5;0.62;0.62;0.62;0.62;0.62	5.95	5.05	0.67936	.	0.213621	0.32258	N	0.006360	T	0.26991	0.0661	L	0.36672	1.1	0.26375	N	0.976821	P;B;B;P	0.41848	0.763;0.013;0.0;0.763	B;B;B;B	0.30855	0.121;0.006;0.003;0.121	T	0.29549	-1.0008	10	0.02654	T	1	-25.3326	10.1352	0.42701	0.1544:0.6968:0.1487:0.0	.	434;435;214;435	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	N	435;435;434;214;239;265;85;85	ENSP00000361214:H435N;ENSP00000384796:H435N;ENSP00000361215:H214N;ENSP00000385804:H239N;ENSP00000451376:H265N;ENSP00000441201:H85N;ENSP00000440377:H85N	ENSP00000361214:H435N	H	+	1	0	NRG3	84723542	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.508000	0.45450	1.520000	0.48965	-0.158000	0.13435	CAT		0.478	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		17	60	1	0	1.00905e-13	1	1.28424e-13	17	60				
ERC2	26059	broad.mit.edu	37	3	56026129	56026129	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:56026129C>G	ENST00000288221.6	-	11	2466	c.2211G>C	c.(2209-2211)gaG>gaC	p.E737D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	737						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTTCTCATTCTCCACCTCCT	0.468																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2209-2211)gaG>gaC		ELKS/RAB6-interacting/CAST family member 2							200.0	199.0	199.0					3																	56026129		1939	4141	6080	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56026129C>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2211G>C	3.37:g.56026129C>G	ENSP00000288221:p.Glu737Asp						p.E737D	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	11	2466	-			737					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2211G>C	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.95|15.95	2.985030|2.985030	0.53934|0.53934	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.52057|.	0.68|.	5.69|5.69	3.92|3.92	0.45320|0.45320	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70745|0.70745	0.3259|0.3259	M|M	0.74647|0.74647	2.275|2.275	0.44214|0.44214	D|D	0.997041|0.997041	D|.	0.57257|.	0.979|.	D|.	0.71414|.	0.973|.	T|T	0.69064|0.69064	-0.5244|-0.5244	10|5	0.62326|.	D|.	0.03|.	-20.7651|-20.7651	10.7811|10.7811	0.46377|0.46377	0.0:0.7956:0.0:0.2044|0.0:0.7956:0.0:0.2044	.|.	737|.	O15083|.	ERC2_HUMAN|.	D|T	737|388	ENSP00000288221:E737D|.	ENSP00000288221:E737D|.	E|R	-|-	3|2	2|0	ERC2|ERC2	56001169|56001169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	2.759000|2.759000	0.47573|0.47573	0.777000|0.777000	0.33496|0.33496	-0.216000|-0.216000	0.12614|0.12614	GAG|AGA		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		18	144	0	0	0	1	0	18	144				
ZNF835	90485	broad.mit.edu	37	19	57175946	57175946	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:57175946C>A	ENST00000537055.2	-	2	852	c.621G>T	c.(619-621)acG>acT	p.T207T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGTCAGGTGCGTGACGCGCG	0.721																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(619-621)acG>acT		zinc finger protein 835							16.0	17.0	16.0					19																	57175946		2165	4198	6363	SO:0001819	synonymous_variant	90485							g.chr19:57175946C>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.621G>T	19.37:g.57175946C>A							p.T207T	NM_001005850.2	NP_001005850.2					2	852	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.621G>T	CCDS56105.1																																																																																				0.721	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		4	19	1	0	0.150653	1	0.151595	4	19				
C12orf56	115749	broad.mit.edu	37	12	64678478	64678478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:64678478C>A	ENST00000543942.2	-	8	1902	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	C12orf56_ENST00000333722.5_Nonsense_Mutation_p.E266*|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	426										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CGTGATGACTCGGTTTCTGTT	0.373																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(1276-1278)Gag>Tag		chromosome 12 open reading frame 56							133.0	125.0	128.0					12																	64678478		1912	4133	6045	SO:0001587	stop_gained	115749							g.chr12:64678478C>A		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1276G>T	12.37:g.64678478C>A	ENSP00000446101:p.Glu426*					RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Nonsense_Mutation_p.E266*	p.E426*	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	8	1902	-			429						Nonsense_Mutation	SNP	ENST00000543942.2	37	c.1276G>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.828118	0.90955	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.29	4.29	0.51040	.	0.067393	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.172	12.4453	0.55647	0.0:1.0:0.0:0.0	.	.	.	.	X	266;427;429	.	.	E	-	1	0	C12orf56	62964745	0.998000	0.40836	0.958000	0.39756	0.151000	0.21798	3.182000	0.50910	2.402000	0.81655	0.655000	0.94253	GAG		0.373	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		9	18	1	0	5.50884e-06	1	6.07481e-06	9	18				
ETV7	51513	broad.mit.edu	37	6	36343668	36343668	+	Missense_Mutation	SNP	C	C	A	rs79496316	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:36343668C>A	ENST00000340181.4	-	3	528	c.287G>T	c.(286-288)cGg>cTg	p.R96L	ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.R96L|ETV7_ENST00000339796.5_Missense_Mutation_p.R96L	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	96	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CGCACGGTGCCGGAAGTCGTC	0.662													C|||	5	0.000998403	0.0	0.0	5008	,	,		19946	0.005		0.0	False		,,,				2504	0.0					ENST00000339796.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(286-288)cGg>cTg		ets variant 7							120.0	109.0	113.0					6																	36343668		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36343668C>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.287G>T	6.37:g.36343668C>A	ENSP00000341843:p.Arg96Leu					ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.R96L|ETV7_ENST00000340181.4_Missense_Mutation_p.R96L	p.R96L	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN			3	1132	-			96			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.287G>T	CCDS4819.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	17.04	3.287211	0.59867	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737	T;T;T	0.27402	1.67;1.67;1.67	3.38	1.46	0.22682	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.067079	0.56097	U	0.000040	T	0.19248	0.0462	.	.	.	0.80722	D	1	D;D;D	0.67145	0.977;0.992;0.996	P;D;P	0.66602	0.823;0.945;0.905	T	0.20505	-1.0273	9	0.08837	T	0.75	.	6.0139	0.19592	0.0:0.6567:0.1568:0.1865	.	96;96;96	Q9Y603-7;Q9Y603;Q9Y603-5	.;ETV7_HUMAN;.	L	96	ENSP00000342260:R96L;ENSP00000341843:R96L;ENSP00000362842:R96L	ENSP00000342260:R96L	R	-	2	0	ETV7	36451646	0.986000	0.35501	0.904000	0.35570	0.785000	0.44390	2.744000	0.47450	0.403000	0.25479	0.585000	0.79938	CGG		0.662	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		29	112	1	0	7.26314e-15	1	9.3925e-15	29	112				
TBC1D2	55357	broad.mit.edu	37	9	100973015	100973015	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:100973015C>T	ENST00000375064.1	-	8	1634	c.1596G>A	c.(1594-1596)ctG>ctA	p.L532L	TBC1D2_ENST00000342112.5_Silent_p.L314L|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.L532L|TBC1D2_ENST00000375063.1_Silent_p.L72L	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	532					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGCTGCCTCAGCAGCTCTG	0.637																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1594-1596)ctG>ctA		TBC1 domain family, member 2							28.0	22.0	24.0					9																	100973015		2201	4300	6501	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100973015C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1596G>A	9.37:g.100973015C>T						TBC1D2_ENST00000342112.5_Silent_p.L314L|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.L72L|TBC1D2_ENST00000375064.1_Silent_p.L532L	p.L532L	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	8	1687	-		Myeloproliferative disorder(762;0.0255)	532					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.1596G>A																																																																																					0.637	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		9	12	0	0	0	1	0	9	12				
LRRTM1	347730	broad.mit.edu	37	2	80530327	80530327	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:80530327G>T	ENST00000295057.3	-	2	1274	c.618C>A	c.(616-618)gcC>gcA	p.A206A	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A206A|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	206					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TAAACAAGCCGGCGAAAGAGT	0.582										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(616-618)gcC>gcA		leucine rich repeat transmembrane neuronal 1							87.0	88.0	88.0					2																	80530327		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530327G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.618C>A	2.37:g.80530327G>T		HNSCC(69;0.2)				CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.A206A|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.A206A	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1274	-			206					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.618C>A	CCDS1966.1																																																																																				0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		25	103	1	0	9.80776e-20	1	1.33253e-19	25	103				
CTSF	8722	broad.mit.edu	37	11	66332437	66332437	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66332437G>C	ENST00000310325.5	-	9	1195	c.1086C>G	c.(1084-1086)caC>caG	p.H362Q	ACTN3_ENST00000513398.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	362					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGACTGCATGTGACCCTGGT	0.577																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1084-1086)caC>caG		cathepsin F							162.0	146.0	151.0					11																	66332437		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66332437G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1086C>G	11.37:g.66332437G>C	ENSP00000310832:p.His362Gln						p.H362Q	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			9	1195	-			362					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.1086C>G	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.846103|1.846103	0.32606|0.32606	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325	D|D	0.87029|0.86769	-2.2|-2.17	4.69|4.69	2.75|2.75	0.32379|0.32379	.|Peptidase C1A, papain C-terminal (2);	0.202666|0.202666	0.51477|0.51477	D|N	0.000090|0.000090	T|T	0.68705|0.68705	0.3030|0.3030	N|N	0.04063|0.04063	-0.285|-0.285	0.50813|0.50813	D|D	0.999893|0.999893	.|B	.|0.28208	.|0.203	.|B	.|0.28553	.|0.091	T|T	0.58036|0.58036	-0.7707|-0.7707	8|10	0.42905|0.18276	T|T	0.14|0.48	.|.	7.9596|7.9596	0.30064|0.30064	0.0869:0.0:0.7546:0.1586|0.0869:0.0:0.7546:0.1586	.|.	.|362	.|Q9UBX1	.|CATF_HUMAN	D|Q	210|362	ENSP00000433082:H210D|ENSP00000310832:H362Q	ENSP00000433082:H210D|ENSP00000310832:H362Q	H|H	-|-	1|3	0|2	CTSF|CTSF	66089013|66089013	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.897000|0.897000	0.52465|0.52465	3.724000|3.724000	0.54962|0.54962	0.668000|0.668000	0.31126|0.31126	-0.314000|-0.314000	0.08810|0.08810	CAT|CAC		0.577	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		17	84	0	0	0	1	0	17	84				
MTUS2	23281	broad.mit.edu	37	13	29599330	29599330	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:29599330G>A	ENST00000431530.3	+	1	583	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	165						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGGCAAAGACCCTTGACA	0.512																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(523-525)aaG>aaA		microtubule associated tumor suppressor candidate 2							84.0	87.0	86.0					13																	29599330		2019	4197	6216	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599330G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.525G>A	13.37:g.29599330G>A							p.K175K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	583	+			165					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.525G>A	CCDS45022.1																																																																																				0.512	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		25	79	0	0	0	1	0	25	79				
MEGF10	84466	broad.mit.edu	37	5	126753414	126753414	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:126753414C>T	ENST00000274473.6	+	11	1482	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	MEGF10_ENST00000418761.2_Silent_p.Y405Y|MEGF10_ENST00000503335.2_Silent_p.Y405Y|MEGF10_ENST00000508365.1_Silent_p.Y405Y	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	405	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGGATTCTACGGGGAAGCTT	0.542																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1213-1215)taC>taT		multiple EGF-like-domains 10							114.0	96.0	102.0					5																	126753414		2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126753414C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1215C>T	5.37:g.126753414C>T						MEGF10_ENST00000503335.2_Silent_p.Y405Y|MEGF10_ENST00000418761.2_Silent_p.Y405Y|MEGF10_ENST00000508365.1_Silent_p.Y405Y	p.Y405Y	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	11	1482	+		Prostate(80;0.165)	405			EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.1215C>T	CCDS4142.1																																																																																				0.542	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		71	95	0	0	0	1	0	71	95				
CDK17	5128	broad.mit.edu	37	12	96688775	96688775	+	Splice_Site	SNP	A	A	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:96688775A>C	ENST00000261211.3	-	10	1601		c.e10+1		CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000553042.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TACATTCCATACCAAAATCTG	0.358																																						ENST00000261211.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.e10+1		cyclin-dependent kinase 17							120.0	112.0	115.0					12																	96688775		2202	4299	6501	SO:0001630	splice_region_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96688775A>C		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.997+1T>G	12.37:g.96688775A>C						CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000553042.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site		NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN			10	1601	-								A8K1U6|B2RCQ2|Q8NEB8	Splice_Site	SNP	ENST00000261211.3	37		CCDS9061.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803572	0.70682	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1465	0.72657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK17	95212906	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.195000	0.94971	2.049000	0.60858	0.402000	0.26972	.		0.358	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	Intron	27	91	0	0	0	1	0	27	91				
CANX	821	broad.mit.edu	37	5	179153693	179153693	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:179153693A>G	ENST00000247461.4	+	14	1858	c.1658A>G	c.(1657-1659)aAa>aGa	p.K553R	CANX_ENST00000452673.2_Missense_Mutation_p.K553R|CANX_ENST00000512607.2_Missense_Mutation_p.K445R|CANX_ENST00000504734.1_Missense_Mutation_p.K553R|CANX_ENST00000415618.2_Missense_Mutation_p.K588R	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	553	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GAGAAACAGAAAAGTGATGCT	0.363																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(1657-1659)aAa>aGa		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						99.0	96.0	97.0					5																	179153693		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179153693A>G	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1658A>G	5.37:g.179153693A>G	ENSP00000247461:p.Lys553Arg					CANX_ENST00000504734.1_Missense_Mutation_p.K553R|CANX_ENST00000452673.2_Missense_Mutation_p.K553R|CANX_ENST00000415618.2_Missense_Mutation_p.K588R|CANX_ENST00000512607.2_Missense_Mutation_p.K445R	p.K553R	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1858	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	553					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1658A>G	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.371706	0.42003	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.66	5.4	5.4	0.78164	.	0.334157	0.35207	N	0.003379	T	0.42921	0.1224	M	0.64997	1.995	0.37199	D	0.904284	B;B	0.33694	0.244;0.421	B;B	0.27500	0.08;0.04	T	0.50381	-0.8835	10	0.31617	T	0.26	-15.0319	13.0903	0.59164	1.0:0.0:0.0:0.0	.	588;553	B4DGP8;P27824	.;CALX_HUMAN	R	553;588;553;553;445	ENSP00000424063:K553R;ENSP00000394817:K588R;ENSP00000391646:K553R;ENSP00000247461:K553R;ENSP00000423588:K445R	ENSP00000247461:K553R	K	+	2	0	CANX	179086299	1.000000	0.71417	0.992000	0.48379	0.852000	0.48524	3.736000	0.55052	2.181000	0.69327	0.528000	0.53228	AAA		0.363	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		3	57	0	0	0	1	0	3	57				
PDXDC2P	283970	broad.mit.edu	37	16	70010432	70010432	+	RNA	SNP	G	G	T	rs201511452	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:70010432G>T	ENST00000531894.1	-	0	3951				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.S282S(2)									TATCATCCACGGAGGGTGGAA	0.493													N|||	2072	0.413738	0.8207	0.111	5008	,	,		4948	0.6429		0.0537	False		,,,				2504	0.2127					ENST00000532298.1																			2	Substitution - coding silent(2)	p.S282S(2)	kidney(2)	breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(844-846)tcC>tcA																																								283970							g.chr16:70010432G>T			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010432G>T						PDXDC2P_ENST00000531894.1_RNA	p.S282S							7	845	-								A8K9Z5	Silent	SNP	ENST00000531894.1	37	c.846C>A																																																																																					0.493	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			3	10	1	0	0.115264	1	0.116348	3	10				
OR1J4	26219	broad.mit.edu	37	9	125282226	125282226	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:125282226C>G	ENST00000340750.1	+	1	807	c.807C>G	c.(805-807)gaC>gaG	p.D269E		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCTCCAGTGACAAGGACGTAA	0.483																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(805-807)gaC>gaG		olfactory receptor, family 1, subfamily J, member 4							128.0	115.0	119.0					9																	125282226		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125282226C>G	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.807C>G	9.37:g.125282226C>G	ENSP00000343521:p.Asp269Glu						p.D269E	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	807	+			269					A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.807C>G	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	C	1.746	-0.490449	0.04322	.	.	ENSG00000239590	ENST00000340750	T	0.00091	8.74	5.22	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.564417	0.12577	U	0.456741	T	0.00109	0.0003	L	0.37850	1.14	0.09310	N	1	B	0.12630	0.006	B	0.21151	0.033	T	0.12811	-1.0533	10	0.18710	T	0.47	.	2.0042	0.03474	0.3532:0.3753:0.1198:0.1517	.	269	Q8NGS1	OR1J4_HUMAN	E	269	ENSP00000343521:D269E	ENSP00000343521:D269E	D	+	3	2	OR1J4	124322047	0.000000	0.05858	0.018000	0.16275	0.028000	0.11728	-1.688000	0.01925	0.358000	0.24211	-0.920000	0.02741	GAC		0.483	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			15	80	0	0	0	1	0	15	80				
SMURF2	64750	broad.mit.edu	37	17	62582256	62582256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:62582256C>A	ENST00000262435.9	-	6	620	c.433G>T	c.(433-435)Gga>Tga	p.G145*	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	145					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACTTGTCCTCCTGTGCCTATT	0.328																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(433-435)Gga>Tga		SMAD specific E3 ubiquitin protein ligase 2							102.0	110.0	107.0					17																	62582256		2203	4300	6503	SO:0001587	stop_gained	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62582256C>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.433G>T	17.37:g.62582256C>A	ENSP00000262435:p.Gly145*					SMURF2_ENST00000578200.1_Intron	p.G145*	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		6	620	-	Breast(5;1.32e-14)		145					Q52LL1|Q9H260	Nonsense_Mutation	SNP	ENST00000262435.9	37	c.433G>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728192	0.96856	.	.	ENSG00000108854	ENST00000262435	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.2959	0.94122	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000262435:G145X	G	-	1	0	SMURF2	60012718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.188000	0.77739	2.566000	0.86566	0.655000	0.94253	GGA		0.328	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		29	111	1	0	2.49991e-28	1	3.59363e-28	29	111				
KMT2A	4297	broad.mit.edu	37	11	118342477	118342477	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:118342477A>G	ENST00000389506.5	+	3	603	c.603A>G	c.(601-603)aaA>aaG	p.K201K	KMT2A_ENST00000354520.4_Silent_p.K201K|KMT2A_ENST00000534358.1_Silent_p.K201K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	201					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCTAAATAAATCAGAGACCA	0.403																																						ENST00000534358.1																			0											c.(601-603)aaA>aaG		lysine (K)-specific methyltransferase 2A							49.0	51.0	50.0					11																	118342477		2200	4295	6495	SO:0001819	synonymous_variant	4297							g.chr11:118342477A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.603A>G	11.37:g.118342477A>G						KMT2A_ENST00000389506.5_Silent_p.K201K|KMT2A_ENST00000354520.4_Silent_p.K201K	p.K201K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	626	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.603A>G	CCDS31686.1																																																																																				0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		21	55	0	0	0	1	0	21	55				
SEMA6D	80031	broad.mit.edu	37	15	48058357	48058357	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:48058357G>T	ENST00000316364.5	+	15	2063	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	SEMA6D_ENST00000537942.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G542C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G542C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G542C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	542	PSI.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGGATCCTGTGGTAGAGTGAC	0.438																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1624-1626)Ggt>Tgt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							85.0	77.0	80.0					15																	48058357		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058357G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1624G>T	15.37:g.48058357G>T	ENSP00000324857:p.Gly542Cys					SEMA6D_ENST00000358066.4_Missense_Mutation_p.G542C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G542C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G542C	p.G542C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	15	2063	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	542			PSI.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1624G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343430	0.82022	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	6.11	6.11	0.99139	.	0.172787	0.50627	D	0.000103	T	0.30572	0.0769	N	0.26042	0.785	0.58432	D	0.999997	P;D;P;B;P	0.54207	0.619;0.965;0.86;0.363;0.619	P;P;P;P;P	0.61275	0.48;0.886;0.582;0.586;0.48	T	0.00621	-1.1640	10	0.54805	T	0.06	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	542;542;542;542;542	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	542	ENSP00000442040:G542C;ENSP00000446152:G542C;ENSP00000324857:G542C;ENSP00000374084:G542C;ENSP00000374083:G542C;ENSP00000346786:G542C;ENSP00000350770:G542C;ENSP00000374079:G542C;ENSP00000348276:G542C	ENSP00000324857:G542C	G	+	1	0	SEMA6D	45845649	1.000000	0.71417	0.988000	0.46212	0.925000	0.55904	6.319000	0.72871	2.906000	0.99361	0.655000	0.94253	GGT		0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		13	49	1	0	4.36969e-10	1	5.25015e-10	13	49				
PLCB4	5332	broad.mit.edu	37	20	9404414	9404414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:9404414C>A	ENST00000378493.1	+	24	2318	c.2303C>A	c.(2302-2304)gCt>gAt	p.A768D	PLCB4_ENST00000378501.2_Missense_Mutation_p.A768D|PLCB4_ENST00000278655.4_Missense_Mutation_p.A768D|PLCB4_ENST00000334005.3_Missense_Mutation_p.A768D|PLCB4_ENST00000414679.2_Missense_Mutation_p.A780D|PLCB4_ENST00000378473.3_Missense_Mutation_p.A780D|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	768	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCGGACCTGGCTGTCTTGAGA	0.498																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2302-2304)gCt>gAt		phospholipase C, beta 4							82.0	66.0	71.0					20																	9404414		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9404414C>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2303C>A	20.37:g.9404414C>A	ENSP00000367754:p.Ala768Asp					PLCB4_ENST00000378493.1_Missense_Mutation_p.A768D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A780D|PLCB4_ENST00000414679.2_Missense_Mutation_p.A780D|PLCB4_ENST00000334005.3_Missense_Mutation_p.A768D|PLCB4_ENST00000278655.4_Missense_Mutation_p.A768D	p.A768D	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			24	2318	+			768			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2303C>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012203	0.93346	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.994;1.0;1.0	D	0.87664	0.2536	10	0.87932	D	0	.	19.4558	0.94889	0.0:1.0:0.0:0.0	.	780;615;768;768	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	D	768;780;768;768;768;616	ENSP00000334105:A768D;ENSP00000367734:A780D;ENSP00000278655:A768D;ENSP00000367754:A768D;ENSP00000367762:A768D;ENSP00000390616:A616D	ENSP00000278655:A768D	A	+	2	0	PLCB4	9352414	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.607000	0.82883	2.611000	0.88343	0.655000	0.94253	GCT		0.498	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			21	32	1	0	1.96895e-08	1	2.27241e-08	21	32				
WDR7	23335	broad.mit.edu	37	18	54363476	54363476	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:54363476G>T	ENST00000254442.3	+	12	1572	c.1361G>T	c.(1360-1362)tGg>tTg	p.W454L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.W454L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	454					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCACAGGTTGGCCACCTCAC	0.378																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1360-1362)tGg>tTg		WD repeat domain 7							77.0	69.0	72.0					18																	54363476		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54363476G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1361G>T	18.37:g.54363476G>T	ENSP00000254442:p.Trp454Leu					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.W454L	p.W454L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	12	1572	+			454					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1361G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951881	0.92660	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.60171	0.21;0.21	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.62723	1.935	0.80722	D	1	B;D	0.53619	0.111;0.961	B;P	0.52957	0.088;0.714	T	0.62632	-0.6813	10	0.27785	T	0.31	.	19.3689	0.94477	0.0:0.0:1.0:0.0	.	454;454	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	454	ENSP00000254442:W454L;ENSP00000350187:W454L	ENSP00000254442:W454L	W	+	2	0	WDR7	52514474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.619000	0.98369	2.744000	0.94065	0.655000	0.94253	TGG		0.378	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			8	34	1	0	0.00307968	1	0.00316823	8	34				
STARD13	90627	broad.mit.edu	37	13	33703979	33703979	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:33703979C>A	ENST00000336934.5	-	5	951	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W	STARD13_ENST00000255486.4_Missense_Mutation_p.G271W|STARD13_ENST00000399365.3_Missense_Mutation_p.G161W	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	279					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCTGTCCGCCCAGACCCCTTA	0.557																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(835-837)Ggg>Tgg		StAR-related lipid transfer (START) domain containing 13							90.0	87.0	88.0					13																	33703979		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703979C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.835G>T	13.37:g.33703979C>A	ENSP00000338785:p.Gly279Trp					STARD13_ENST00000399365.3_Missense_Mutation_p.G161W|STARD13_ENST00000255486.4_Missense_Mutation_p.G271W	p.G279W	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	951	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	279					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.835G>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637688	0.47049	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06371	3.31;3.31;3.31	5.69	4.85	0.62838	.	0.212031	0.43110	D	0.000617	T	0.17959	0.0431	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.983;0.97;0.99	D;P;P;P	0.71870	0.975;0.831;0.566;0.753	T	0.00814	-1.1555	10	0.38643	T	0.18	.	10.1933	0.43039	0.0:0.7928:0.1358:0.0714	.	271;244;279;271	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	W	161;271;279;271	ENSP00000382300:G161W;ENSP00000255486:G271W;ENSP00000338785:G279W	ENSP00000255486:G271W	G	-	1	0	STARD13	32601979	0.951000	0.32395	0.752000	0.31206	0.665000	0.39181	2.214000	0.42853	1.407000	0.46875	0.655000	0.94253	GGG		0.557	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		14	109	1	0	0.00244969	1	0.00252821	14	109				
KCNA4	3739	broad.mit.edu	37	11	30033734	30033734	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:30033734G>A	ENST00000328224.6	-	2	1725	c.492C>T	c.(490-492)ggC>ggT	p.G164G	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	164	Poly-Gly.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AACTGTAGCCGCCACCGCCCT	0.507																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(490-492)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, member 4							58.0	59.0	59.0					11																	30033734		2172	4267	6439	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033734G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.492C>T	11.37:g.30033734G>A							p.G164G	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1725	-			164			Poly-Gly.			Silent	SNP	ENST00000328224.6	37	c.492C>T	CCDS41629.1																																																																																				0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	95	0	0	0	1	0	8	95				
ARHGEF9	23229	broad.mit.edu	37	X	62875463	62875463	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:62875463A>G	ENST00000253401.6	-	8	2011	c.1211T>C	c.(1210-1212)cTg>cCg	p.L404P	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L302P|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L402P|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.L131P|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L351P|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L383P	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	404	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGCAAAGAACAGATGTATCTC	0.423																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1210-1212)cTg>cCg		Cdc42 guanine nucleotide exchange factor (GEF) 9							204.0	169.0	181.0					X																	62875463		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62875463A>G	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1211T>C	X.37:g.62875463A>G	ENSP00000253401:p.Leu404Pro					ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L351P|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L383P|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L302P|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L402P|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.L131P	p.L404P	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			8	2011	-			404			PH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1211T>C	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967051	0.74131	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.54	5.54	0.83059	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.078485	0.51477	D	0.000098	D	0.94683	0.8285	M	0.88031	2.925	0.80722	D	1	D;D;D;D	0.67145	0.996;0.988;0.996;0.996	D;D;P;D	0.66847	0.947;0.94;0.905;0.923	D	0.95173	0.8292	10	0.59425	D	0.04	.	13.4941	0.61414	1.0:0.0:0.0:0.0	.	351;402;404;404	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	P	404;402;351;302;131;383	ENSP00000253401:L404P;ENSP00000364012:L402P;ENSP00000399994:L351P;ENSP00000364004:L302P;ENSP00000404478:L131P;ENSP00000364006:L383P	ENSP00000253401:L404P	L	-	2	0	ARHGEF9	62792188	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.729000	0.91490	1.865000	0.54081	0.356000	0.21956	CTG		0.423	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			14	98	0	0	0	1	0	14	98				
PCDH15	65217	broad.mit.edu	37	10	55826622	55826622	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:55826622T>A	ENST00000320301.6	-	18	2509	c.2115A>T	c.(2113-2115)atA>atT	p.I705I	PCDH15_ENST00000373955.1_Silent_p.I705I|PCDH15_ENST00000395433.1_Silent_p.I683I|PCDH15_ENST00000409834.1_Silent_p.I316I|PCDH15_ENST00000373957.3_Silent_p.I683I|PCDH15_ENST00000395438.1_Silent_p.I705I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.I712I|PCDH15_ENST00000395430.1_Silent_p.I705I|PCDH15_ENST00000395432.2_Silent_p.I668I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Silent_p.I712I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.I705I|PCDH15_ENST00000437009.1_Silent_p.I634I|PCDH15_ENST00000414778.1_Silent_p.I710I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	705	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTCACCACTATGTTTACTG	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2134-2136)atA>atT		protocadherin-related 15							93.0	86.0	88.0					10																	55826622		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826622T>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2115A>T	10.37:g.55826622T>A		HNSCC(58;0.16)				PCDH15_ENST00000409834.1_Silent_p.I316I|PCDH15_ENST00000395430.1_Silent_p.I705I|PCDH15_ENST00000361849.3_Silent_p.I705I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.I634I|PCDH15_ENST00000414778.1_Silent_p.I710I|PCDH15_ENST00000320301.6_Silent_p.I705I|PCDH15_ENST00000373955.1_Silent_p.I705I|PCDH15_ENST00000395445.1_Silent_p.I712I|PCDH15_ENST00000395438.1_Silent_p.I705I|PCDH15_ENST00000395433.1_Silent_p.I683I|PCDH15_ENST00000373957.3_Silent_p.I683I|PCDH15_ENST00000395432.2_Silent_p.I668I	p.I712I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			19	2530	-		Melanoma(3;0.117)|Lung SC(717;0.238)	705			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.2136A>T	CCDS7248.1																																																																																				0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		20	83	0	0	0	1	0	20	83				
NPAS4	266743	broad.mit.edu	37	11	66192497	66192497	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66192497C>T	ENST00000311034.2	+	7	2312	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	712					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCGTGGAAGACATCTTCATGG	0.597																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2134-2136)gaC>gaT		neuronal PAS domain protein 4							70.0	77.0	74.0					11																	66192497		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192497C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2136C>T	11.37:g.66192497C>T							p.D712D	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	2312	+			712					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2136C>T	CCDS8138.1																																																																																				0.597	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		37	111	0	0	0	1	0	37	111				
SNRPC	6631	broad.mit.edu	37	6	34741334	34741334	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:34741334G>T	ENST00000244520.5	+	6	605	c.467G>T	c.(466-468)cGa>cTa	p.R156L	SNRPC_ENST00000374017.3_Missense_Mutation_p.R177L|SNRPC_ENST00000374018.1_Missense_Mutation_p.R115L	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGAATGACTCGACCAGACAGA	0.537																																					NSCLC(131;576 1831 5287 11175 13324)	ENST00000374017.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						c.(529-531)cGa>cTa		small nuclear ribonucleoprotein polypeptide C							72.0	69.0	70.0					6																	34741334		2203	4300	6503	SO:0001583	missense	6631				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding	g.chr6:34741334G>T		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.467G>T	6.37:g.34741334G>T	ENSP00000244520:p.Arg156Leu					SNRPC_ENST00000374018.1_Missense_Mutation_p.R115L|SNRPC_ENST00000244520.5_Missense_Mutation_p.R156L	p.R177L			P09234	RU1C_HUMAN			5	817	+			156						Missense_Mutation	SNP	ENST00000244520.5	37	c.530G>T	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373091	0.82573	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.38077	1.16;1.16;1.16	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	L	0.51422	1.61	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	T	0.35500	-0.9786	10	0.52906	T	0.07	.	19.9933	0.97376	0.0:0.0:1.0:0.0	.	156	P09234	RU1C_HUMAN	L	156;115;177	ENSP00000244520:R156L;ENSP00000363130:R115L;ENSP00000363129:R177L	ENSP00000244520:R156L	R	+	2	0	SNRPC	34849312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.330000	0.96422	2.744000	0.94065	0.542000	0.68232	CGA		0.537	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		24	51	1	0	3.01185e-09	1	3.55244e-09	24	51				
RHAG	6005	broad.mit.edu	37	6	49580134	49580134	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:49580134A>T	ENST00000371175.4	-	6	947	c.921T>A	c.(919-921)tcT>tcA	p.S307S	RHAG_ENST00000229810.7_Silent_p.S307S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	307					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATCCAAGCACAGAGACCATTC	0.458																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(919-921)tcT>tcA		Rh-associated glycoprotein							134.0	117.0	123.0					6																	49580134		2203	4300	6503	SO:0001819	synonymous_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49580134A>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.921T>A	6.37:g.49580134A>T						RHAG_ENST00000229810.7_Silent_p.S307S	p.S307S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			6	947	-	Lung NSC(77;0.0255)		307					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	c.921T>A	CCDS4927.1																																																																																				0.458	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			28	80	0	0	0	1	0	28	80				
NSD1	64324	broad.mit.edu	37	5	176696606	176696606	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176696606G>T	ENST00000439151.2	+	16	5352	c.5307G>T	c.(5305-5307)tgG>tgT	p.W1769C	NSD1_ENST00000354179.4_Missense_Mutation_p.W1500C|NSD1_ENST00000361032.4_Missense_Mutation_p.W1666C|NSD1_ENST00000347982.4_Missense_Mutation_p.W1500C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1769	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCCCAGGTGGTGGCCAGCTG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5305-5307)tgG>tgT		nuclear receptor binding SET domain protein 1							76.0	74.0	74.0					5																	176696606		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176696606G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5307G>T	5.37:g.176696606G>T	ENSP00000395929:p.Trp1769Cys	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.W1666C|NSD1_ENST00000354179.4_Missense_Mutation_p.W1500C|NSD1_ENST00000347982.4_Missense_Mutation_p.W1500C	p.W1769C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	16	5352	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1769			PWWP 2.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5307G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722464	0.89298	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.89	5.89	0.94794	PWWP (3);	0.000000	0.56097	D	0.000029	D	0.88937	0.6573	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.89711	0.3912	10	0.87932	D	0	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	1500;1666;1769	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	1500;1769;1500;1666	ENSP00000346111:W1500C;ENSP00000395929:W1769C;ENSP00000343209:W1500C;ENSP00000354310:W1666C	ENSP00000343209:W1500C	W	+	3	0	NSD1	176629212	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.788000	0.95919	0.585000	0.79938	TGG		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		37	45	1	0	8.16277e-20	1	1.11847e-19	37	45				
TNKS1BP1	85456	broad.mit.edu	37	11	57087950	57087950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:57087950C>A	ENST00000532437.1	-	2	642	c.331G>T	c.(331-333)Gga>Tga	p.G111*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.G111*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	111					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GTGGCTTCTCCTCCAGTGGAG	0.627																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(331-333)Gga>Tga		tankyrase 1 binding protein 1, 182kDa							37.0	45.0	42.0					11																	57087950		2199	4295	6494	SO:0001587	stop_gained	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57087950C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.331G>T	11.37:g.57087950C>A	ENSP00000437271:p.Gly111*					TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.G111*	p.G111*			Q9C0C2	TB182_HUMAN			2	642	-		all_epithelial(135;0.21)	111					A7E2F8|Q6PJ35|Q6ZV74	Nonsense_Mutation	SNP	ENST00000532437.1	37	c.331G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550184	0.65311	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	.	.	.	4.68	2.7	0.31948	.	0.000000	0.34802	N	0.003679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.5652	4.0519	0.09800	0.0:0.5652:0.1904:0.2444	.	.	.	.	X	111	.	ENSP00000350990:G111X	G	-	1	0	TNKS1BP1	56844526	0.997000	0.39634	0.875000	0.34327	0.736000	0.42039	2.675000	0.46875	1.168000	0.42723	0.563000	0.77884	GGA		0.627	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		8	31	1	0	0.0477658	1	0.0483666	8	31				
SIPA1	6494	broad.mit.edu	37	11	65409011	65409011	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:65409011T>C	ENST00000394224.3	+	2	915	c.619T>C	c.(619-621)Tac>Cac	p.Y207H	SIPA1_ENST00000394227.3_Missense_Mutation_p.Y207H|SIPA1_ENST00000534313.1_Missense_Mutation_p.Y207H|SIPA1_ENST00000527525.1_Missense_Mutation_p.Y207H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	207					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AACCTCGGCCTACAGCCTGGA	0.632																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(619-621)Tac>Cac		signal-induced proliferation-associated 1							37.0	36.0	37.0					11																	65409011		2200	4295	6495	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65409011T>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.619T>C	11.37:g.65409011T>C	ENSP00000377771:p.Tyr207His					SIPA1_ENST00000394227.3_Missense_Mutation_p.Y207H|SIPA1_ENST00000527525.1_Missense_Mutation_p.Y207H|SIPA1_ENST00000534313.1_Missense_Mutation_p.Y207H	p.Y207H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	915	+			207					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.619T>C	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703413	0.68501	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	4.87	3.73	0.42828	.	0.132551	0.30879	U	0.008700	D	0.90290	0.6963	M	0.69248	2.105	0.37570	D	0.919418	P;P	0.38335	0.627;0.493	B;B	0.39258	0.295;0.155	D	0.89490	0.3756	10	0.48119	T	0.1	-18.8713	4.5557	0.12135	0.1695:0.0955:0.0:0.735	.	207;207	F6RY50;Q96FS4	.;SIPA1_HUMAN	H	207	ENSP00000436269:Y207H;ENSP00000433686:Y207H;ENSP00000377771:Y207H;ENSP00000377774:Y207H	ENSP00000377771:Y207H	Y	+	1	0	SIPA1	65165587	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.586000	0.53950	1.827000	0.53221	0.459000	0.35465	TAC		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		3	58	0	0	0	1	0	3	58				
COL20A1	57642	broad.mit.edu	37	20	61950909	61950909	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:61950909G>A	ENST00000358894.6	+	23	2977	c.2877G>A	c.(2875-2877)ccG>ccA	p.P959P	COL20A1_ENST00000326996.6_Silent_p.P959P|COL20A1_ENST00000435874.1_Silent_p.P966P|COL20A1_ENST00000422202.1_Silent_p.P966P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	959	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTTCGACCCGCAGGAAGTGA	0.652																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(2896-2898)ccG>ccA		collagen, type XX, alpha 1							27.0	31.0	29.0					20																	61950909		1944	4124	6068	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61950909G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2877G>A	20.37:g.61950909G>A						COL20A1_ENST00000435874.1_Silent_p.P966P|COL20A1_ENST00000326996.6_Silent_p.P959P|COL20A1_ENST00000358894.6_Silent_p.P959P	p.P966P			Q9P218	COKA1_HUMAN			22	2966	+	all_cancers(38;1.39e-10)		959			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.2898G>A	CCDS46628.1																																																																																				0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	9	0	0	0	1	0	3	9				
CNTN3	5067	broad.mit.edu	37	3	74474089	74474089	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:74474089G>T	ENST00000263665.6	-	4	388	c.361C>A	c.(361-363)Ctt>Att	p.L121I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	121					cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAATTTTCAAGATCTGATTTG	0.383																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(361-363)Ctt>Att		contactin 3 (plasmacytoma associated)							46.0	45.0	46.0					3																	74474089		2202	4300	6502	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74474089G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.361C>A	3.37:g.74474089G>T	ENSP00000263665:p.Leu121Ile						p.L121I	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	4	388	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	121					B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.361C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160899	0.57368	.	.	ENSG00000113805	ENST00000263665	T	0.61859	0.07	4.98	4.98	0.66077	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.59169	0.2174	L	0.46947	1.48	0.43377	D	0.995472	B	0.25904	0.137	B	0.39531	0.302	T	0.56251	-0.8010	10	0.32370	T	0.25	.	16.1374	0.81494	0.0:0.0:1.0:0.0	.	121	Q9P232	CNTN3_HUMAN	I	121	ENSP00000263665:L121I	ENSP00000263665:L121I	L	-	1	0	CNTN3	74556779	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.402000	0.44521	2.476000	0.83614	0.549000	0.68633	CTT		0.383	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		4	3	1	0	0.00024832	1	0.000262161	4	3				
CACNA1F	778	broad.mit.edu	37	X	49066462	49066462	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:49066462G>T	ENST00000376265.2	-	40	4723	c.4662C>A	c.(4660-4662)atC>atA	p.I1554I	CACNA1F_ENST00000323022.5_Silent_p.I1543I|CACNA1F_ENST00000376251.1_Silent_p.I1489I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1554					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATCTTTTTGATGACAATCC	0.597																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(4660-4662)atC>atA		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						99.0	77.0	84.0					X																	49066462		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49066462G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4662C>A	X.37:g.49066462G>T						CACNA1F_ENST00000376251.1_Silent_p.I1489I|CACNA1F_ENST00000323022.5_Silent_p.I1543I	p.I1554I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			40	4723	-			1554					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.4662C>A	CCDS35253.1																																																																																				0.597	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		14	72	1	0	2.61681e-11	1	3.24082e-11	14	72				
NCOA3	8202	broad.mit.edu	37	20	46277841	46277841	+	Silent	SNP	G	G	A	rs139542333		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:46277841G>A	ENST00000371998.3	+	19	3830	c.3639G>A	c.(3637-3639)caG>caA	p.Q1213Q	NCOA3_ENST00000372004.3_Splice_Site_p.Q1213Q|NCOA3_ENST00000371997.3_Splice_Site_p.Q1208Q|NCOA3_ENST00000341724.6_Splice_Site_p.Q1143Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1213	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCAGCCCCAGgtgagctccc	0.512																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.e19+1		nuclear receptor coactivator 3							70.0	62.0	65.0					20																	46277841		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46277841G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3639G>A	20.37:g.46277841G>A						NCOA3_ENST00000341724.6_Splice_Site_p.Q1143_splice|NCOA3_ENST00000371997.3_Splice_Site_p.Q1208_splice|NCOA3_ENST00000371998.3_Silent_p.Q1213Q	p.Q1213_splice	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			19	3855	+			1217			Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	37	c.3639_splice	CCDS13407.1																																																																																				0.512	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		19	46	0	0	0	1	0	19	46				
NPFFR2	10886	broad.mit.edu	37	4	73013163	73013163	+	Nonsense_Mutation	SNP	C	C	G	rs538543232		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:73013163C>G	ENST00000308744.6	+	4	1301	c.1203C>G	c.(1201-1203)taC>taG	p.Y401*	NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y302*|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y299*|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	401					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTCAGACTACGCTGACCTTT	0.468																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1201-1203)taC>taG		neuropeptide FF receptor 2							99.0	93.0	95.0					4																	73013163		2203	4300	6503	SO:0001587	stop_gained	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013163C>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1203C>G	4.37:g.73013163C>G	ENSP00000307822:p.Tyr401*					NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y302*|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y299*|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	p.Y401*	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1301	+			401					Q96RV1|Q9NR49	Nonsense_Mutation	SNP	ENST00000308744.6	37	c.1203C>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578274	0.45902	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	.	.	.	5.91	-4.44	0.03557	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4482	0.75248	0.0:0.5967:0.0:0.4033	.	.	.	.	X	401;302;299	.	ENSP00000307822:Y401X	Y	+	3	2	NPFFR2	73232027	0.004000	0.15560	0.965000	0.40720	0.014000	0.08584	-1.187000	0.03067	-0.639000	0.05502	-1.170000	0.01741	TAC		0.468	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		21	95	0	0	0	1	0	21	95				
KIAA1033	23325	broad.mit.edu	37	12	105540905	105540905	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:105540905C>T	ENST00000332180.5	+	24	2582	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						ACACATGGCACGGGAATTATG	0.348																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2494-2496)aCg>aTg		KIAA1033							77.0	71.0	73.0					12																	105540905		1822	4077	5899	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105540905C>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2495C>T	12.37:g.105540905C>T	ENSP00000328062:p.Thr832Met						p.T832M	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			24	2582	+			832						Missense_Mutation	SNP	ENST00000332180.5	37	c.2495C>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096497	0.76870	.	.	ENSG00000136051	ENST00000332180	T	0.45276	0.9	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	L	0.49640	1.575	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.63703	0.917;0.917	T	0.48725	-0.9010	10	0.33141	T	0.24	.	20.1595	0.98130	0.0:1.0:0.0:0.0	.	833;832	B7ZKT9;Q2M389	.;WASH7_HUMAN	M	832	ENSP00000328062:T832M	ENSP00000328062:T832M	T	+	2	0	KIAA1033	104065035	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.776000	0.85560	2.847000	0.97988	0.591000	0.81541	ACG		0.348	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		21	145	0	0	0	1	0	21	145				
DPPA5	340168	broad.mit.edu	37	6	74063656	74063656	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:74063656T>A	ENST00000370370.3	-	2	281	c.212A>T	c.(211-213)tAc>tTc	p.Y71F		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	71	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						ATAGGAGCCGTAAACCACGAC	0.607																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(211-213)tAc>tTc		developmental pluripotency associated 5							54.0	50.0	51.0					6																	74063656		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063656T>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.212A>T	6.37:g.74063656T>A	ENSP00000359396:p.Tyr71Phe						p.Y71F	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			2	281	-			71			KH; atypical.		B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.212A>T	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.066637	0.00382	.	.	ENSG00000203909	ENST00000370370	T	0.09073	3.02	3.74	1.32	0.21799	K Homology (1);	0.000000	0.44688	D	0.000437	T	0.01287	0.0042	L	0.38649	1.16	0.09310	N	1	B	0.24576	0.106	B	0.23419	0.046	T	0.46978	-0.9152	10	0.07175	T	0.84	.	4.3921	0.11346	0.1998:0.0:0.2082:0.592	.	71	A6NC42	DPPA5_HUMAN	F	71	ENSP00000359396:Y71F	ENSP00000359396:Y71F	Y	-	2	0	DPPA5	74120377	0.497000	0.26067	0.005000	0.12908	0.023000	0.10783	0.857000	0.27831	0.291000	0.22468	0.402000	0.26972	TAC		0.607	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		19	78	0	0	0	1	0	19	78				
MYO3A	53904	broad.mit.edu	37	10	26377306	26377306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:26377306G>T	ENST00000265944.5	+	15	1700	c.1534G>T	c.(1534-1536)Gaa>Taa	p.E512*	MYO3A_ENST00000543632.1_Nonsense_Mutation_p.E512*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	512	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATCTCCTGGAAAAATCCCG	0.343																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1534-1536)Gaa>Taa		myosin IIIA							61.0	63.0	62.0					10																	26377306		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377306G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1534G>T	10.37:g.26377306G>T	ENSP00000265944:p.Glu512*					MYO3A_ENST00000543632.1_Nonsense_Mutation_p.E512*	p.E512*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1700	+			512			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.1534G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	40	8.476488	0.98827	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8413	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	X	512	.	ENSP00000265944:E512X	E	+	1	0	MYO3A	26417312	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.813000	0.99286	2.779000	0.95612	0.655000	0.94253	GAA		0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		16	51	1	0	3.41278e-10	1	4.14685e-10	16	51				
SPEG	10290	broad.mit.edu	37	2	220309794	220309794	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:220309794C>G	ENST00000312358.7	+	3	858	c.726C>G	c.(724-726)agC>agG	p.S242R	SPEG_ENST00000396698.1_Missense_Mutation_p.S138R|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	242					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGCGCAAGCTGGGGGTCAG	0.657																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(724-726)agC>agG		SPEG complex locus							16.0	21.0	19.0					2																	220309794		2074	4199	6273	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309794C>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.726C>G	2.37:g.220309794C>G	ENSP00000311684:p.Ser242Arg					SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396698.1_Missense_Mutation_p.S138R	p.S242R	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	858	+		Renal(207;0.0183)	242					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.726C>G	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.416876|1.416876	0.25552|0.25552	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000451076|ENST00000312358;ENST00000265327;ENST00000396698	.|T;T	.|0.66815	.|-0.23;-0.04	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.44483	.|U	.|0.000449	T|T	0.57814|0.57814	0.2079|0.2079	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D	.|0.54772	.|0.968	.|P	.|0.47673	.|0.554	T|T	0.65360|0.65360	-0.6187|-0.6187	5|10	.|0.52906	.|T	.|0.07	.|.	17.3905|17.3905	0.87430|0.87430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|242	.|Q15772	.|SPEG_HUMAN	V|R	93|242;242;138	.|ENSP00000311684:S242R;ENSP00000379926:S138R	.|ENSP00000265327:S242R	L|S	+|+	1|3	2|2	SPEG|SPEG	220018038|220018038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.484000|2.484000	0.45242|0.45242	2.084000|2.084000	0.62774|0.62774	0.442000|0.442000	0.29010|0.29010	CTG|AGC		0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	19	0	0	0	1	0	3	19				
ADAM7	8756	broad.mit.edu	37	8	24324490	24324490	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:24324490T>A	ENST00000175238.6	+	6	651	c.568T>A	c.(568-570)Tcc>Acc	p.S190T	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.S190T|ADAM7_ENST00000380789.1_Missense_Mutation_p.S190T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAAGAAGACTCCAAAATAAA	0.353																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(568-570)Tcc>Acc		ADAM metallopeptidase domain 7							65.0	71.0	69.0					8																	24324490		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324490T>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.568T>A	8.37:g.24324490T>A	ENSP00000175238:p.Ser190Thr					ADAM7_ENST00000380789.1_Missense_Mutation_p.S190T|ADAM7_ENST00000441335.2_Missense_Mutation_p.S190T|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.S190T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	651	+		Prostate(55;0.0181)	190					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.568T>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	0.836	-0.743730	0.03088	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.29397	2.36;1.57;1.58	5.07	-10.1	0.00402	.	3.078270	0.00875	N	0.002079	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.15870	0.014;0.001	T	0.09997	-1.0649	10	0.14252	T	0.57	.	7.5585	0.27837	0.3325:0.4773:0.0:0.1902	.	190;190	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	T	190	ENSP00000393073:S190T;ENSP00000175238:S190T;ENSP00000370166:S190T	ENSP00000175238:S190T	S	+	1	0	ADAM7	24380380	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.572000	0.00912	-3.275000	0.00198	-2.026000	0.00426	TCC		0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		39	113	0	0	0	1	0	39	113				
OR10AD1	121275	broad.mit.edu	37	12	48596947	48596947	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:48596947G>T	ENST00000310248.2	-	1	223	c.129C>A	c.(127-129)ggC>ggA	p.G43G		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGATGATGAGGCCATTCATGG	0.527																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(127-129)ggC>ggA		olfactory receptor, family 10, subfamily AD, member 1							94.0	80.0	84.0					12																	48596947		2203	4300	6503	SO:0001819	synonymous_variant	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596947G>T		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.129C>A	12.37:g.48596947G>T							p.G43G	NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN			1	223	-			43					B9EGT9|Q6IFA8	Silent	SNP	ENST00000310248.2	37	c.129C>A	CCDS31787.1																																																																																				0.527	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			12	42	1	0	7.03913e-09	1	8.24218e-09	12	42				
ZNF479	90827	broad.mit.edu	37	7	57188736	57188736	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:57188736C>A	ENST00000331162.4	-	5	656	c.386G>T	c.(385-387)tGt>tTt	p.C129F		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACACTTTTACAGCATTTTTT	0.353																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(385-387)tGt>tTt		zinc finger protein 479							97.0	90.0	92.0					7																	57188736		1852	4106	5958	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188736C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.386G>T	7.37:g.57188736C>A	ENSP00000333776:p.Cys129Phe						p.C129F	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	656	-			129						Missense_Mutation	SNP	ENST00000331162.4	37	c.386G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.967	-0.701461	0.03255	.	.	ENSG00000185177	ENST00000331162	T	0.06142	3.34	1.6	1.6	0.23607	.	.	.	.	.	T	0.05547	0.0146	L	0.41710	1.295	0.09310	N	1	B	0.15473	0.013	B	0.18561	0.022	T	0.37911	-0.9685	9	0.31617	T	0.26	.	5.1207	0.14858	0.3456:0.6544:0.0:0.0	.	129	Q96JC4	ZN479_HUMAN	F	129	ENSP00000333776:C129F	ENSP00000333776:C129F	C	-	2	0	ZNF479	57192678	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.606000	0.05654	0.867000	0.35654	0.400000	0.26472	TGT		0.353	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		40	125	1	0	1.48734e-19	1	2.01228e-19	40	125				
ZNF85	7639	broad.mit.edu	37	19	21131822	21131822	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:21131822C>A	ENST00000328178.8	+	4	615	c.502C>A	c.(502-504)Cat>Aat	p.H168N	ZNF85_ENST00000601023.1_Missense_Mutation_p.H109N|ZNF85_ENST00000345030.6_Missense_Mutation_p.H135N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	168					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TGAGATAAGACATACTAAAAA	0.308																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(325-327)Cat>Aat		zinc finger protein 85							50.0	58.0	55.0					19																	21131822		2200	4296	6496	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131822C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.502C>A	19.37:g.21131822C>A	ENSP00000329793:p.His168Asn					ZNF85_ENST00000345030.6_Missense_Mutation_p.H135N|ZNF85_ENST00000328178.8_Missense_Mutation_p.H168N	p.H109N			Q03923	ZNF85_HUMAN			2	971	+			168					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.325C>A	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	11.60	1.686803	0.29962	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.67345	-0.26;-0.26	1.34	1.34	0.21922	.	.	.	.	.	T	0.78880	0.4353	M	0.90814	3.15	0.80722	D	1	D;D;P	0.62365	0.969;0.991;0.736	P;P;P	0.59357	0.856;0.747;0.596	T	0.78505	-0.2178	9	0.62326	D	0.03	.	7.1868	0.25804	0.0:0.7183:0.2816:0.0	.	135;109;168	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	N	168;135;43	ENSP00000329793:H168N;ENSP00000342340:H135N	ENSP00000329793:H168N	H	+	1	0	ZNF85	20923662	0.978000	0.34361	0.005000	0.12908	0.016000	0.09150	2.705000	0.47127	0.675000	0.31264	0.455000	0.32223	CAT		0.308	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		7	99	1	0	0.000157383	1	0.000167806	7	99				
PPP2R2D	55844	broad.mit.edu	37	10	133769195	133769195	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:133769195A>T	ENST00000422256.2	+	8	890	c.405A>T	c.(403-405)tcA>tcT	p.S135S	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	0					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CAGCGCCATCATGACCGGGTC	0.602																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(403-405)tcA>tcT		protein phosphatase 2, regulatory subunit B, delta							44.0	46.0	45.0					10																	133769195		2043	4211	6254	SO:0001819	synonymous_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133769195A>T	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.405A>T	10.37:g.133769195A>T						PPP2R2D_ENST00000470416.1_3'UTR	p.S135S			Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	8	890	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A8KAK0|Q5SQJ2|Q9P1Y7	Silent	SNP	ENST00000422256.2	37	c.405A>T		.	.	.	.	.	.	.	.	.	.	A	5.519	0.280640	0.10458	.	.	ENSG00000175470	ENST00000455566	T	0.25250	1.81	3.7	1.28	0.21552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.129948	0.64402	D	0.000001	T	0.15003	0.0362	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.17433	0.018	T	0.10520	-1.0626	9	0.24483	T	0.36	-9.5354	6.3752	0.21503	0.7561:0.1587:0.0852:0.0	.	364	Q66LE6	2ABD_HUMAN	L	333	ENSP00000399970:M333L	ENSP00000399970:M333L	M	+	1	0	PPP2R2D	133619185	1.000000	0.71417	0.295000	0.24960	0.049000	0.14656	4.983000	0.63832	0.146000	0.19002	-0.250000	0.11733	ATG		0.602	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		12	52	0	0	0	1	0	12	52				
COL11A1	1301	broad.mit.edu	37	1	103345284	103345284	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:103345284G>A	ENST00000370096.3	-	66	5541	c.5229C>T	c.(5227-5229)tcC>tcT	p.S1743S	COL11A1_ENST00000512756.1_Silent_p.S1627S|COL11A1_ENST00000353414.4_Silent_p.S1704S|COL11A1_ENST00000358392.2_Silent_p.S1755S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1743	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TATTGTCATAGGACATCTCCT	0.443																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(5263-5265)tcC>tcT		collagen, type XI, alpha 1							159.0	146.0	150.0					1																	103345284		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103345284G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5229C>T	1.37:g.103345284G>A						COL11A1_ENST00000353414.4_Silent_p.S1704S|COL11A1_ENST00000370096.3_Silent_p.S1743S|COL11A1_ENST00000512756.1_Silent_p.S1627S	p.S1755S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	66	5582	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1743			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.5265C>T	CCDS778.1																																																																																				0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	74	0	0	0	1	0	11	74				
TPTE	7179	broad.mit.edu	37	21	10914419	10914419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr21:10914419G>T	ENST00000361285.4	-	21	1629	c.1300C>A	c.(1300-1302)Caa>Aaa	p.Q434K	TPTE_ENST00000298232.7_Missense_Mutation_p.Q416K|TPTE_ENST00000342420.5_Missense_Mutation_p.Q396K|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	434	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATTTCTATTTGGATTTTTAGA	0.313																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1246-1248)Caa>Aaa		transmembrane phosphatase with tensin homology							87.0	75.0	79.0					21																	10914419		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914419G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1300C>A	21.37:g.10914419G>T	ENSP00000355208:p.Gln434Lys					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.Q434K|TPTE_ENST00000342420.5_Missense_Mutation_p.Q396K	p.Q416K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	20	1613	-			434			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1246C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	1.322	-0.599262	0.03744	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84516	-1.86;-1.86;-1.86	2.15	-0.0483	0.13839	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.323214	0.32518	U	0.005985	T	0.74861	0.3772	L	0.52573	1.65	0.09310	N	1	B;B;B	0.15473	0.013;0.013;0.002	B;B;B	0.21917	0.02;0.037;0.017	T	0.55679	-0.8103	10	0.18276	T	0.48	-5.3786	4.1955	0.10441	0.0:0.2591:0.4769:0.264	.	396;416;434	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	416;434;396	ENSP00000298232:Q416K;ENSP00000355208:Q434K;ENSP00000344441:Q396K	ENSP00000298232:Q416K	Q	-	1	0	TPTE	9936290	0.021000	0.18746	0.001000	0.08648	0.008000	0.06430	1.478000	0.35442	-0.015000	0.14150	0.184000	0.17185	CAA		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	116	1	0	5.18039e-06	1	5.75202e-06	7	116				
CEP97	79598	broad.mit.edu	37	3	101451477	101451477	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:101451477A>G	ENST00000341893.3	+	6	1459	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	CEP97_ENST00000327230.4_Missense_Mutation_p.Y236C|CEP97_ENST00000494050.1_Missense_Mutation_p.Y236C|CEP97_ENST00000462076.1_3'UTR			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	236	LRRCT.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTAGATGGATATGTGATTTCT	0.398																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(706-708)tAt>tGt		centrosomal protein 97kDa							133.0	126.0	128.0					3																	101451477		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101451477A>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.707A>G	3.37:g.101451477A>G	ENSP00000342510:p.Tyr236Cys					CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000327230.4_Missense_Mutation_p.Y236C|CEP97_ENST00000494050.1_Missense_Mutation_p.Y236C	p.Y236C			Q8IW35	CEP97_HUMAN			6	1459	+			236			LRRCT.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.707A>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125460	0.77436	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.54479	0.57;0.57;0.57	5.82	5.82	0.92795	.	0.184599	0.49305	D	0.000159	T	0.67524	0.2902	L	0.50333	1.59	0.46279	D	0.998964	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71414	0.971;0.973;0.971	T	0.69840	-0.5036	10	0.72032	D	0.01	-15.0962	16.19	0.81981	1.0:0.0:0.0:0.0	.	236;236;236	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	C	236	ENSP00000342510:Y236C;ENSP00000325881:Y236C;ENSP00000418185:Y236C	ENSP00000325881:Y236C	Y	+	2	0	CEP97	102934167	1.000000	0.71417	0.943000	0.38184	0.993000	0.82548	7.316000	0.79007	2.225000	0.72522	0.460000	0.39030	TAT		0.398	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		48	67	0	0	0	1	0	48	67				
NAV3	89795	broad.mit.edu	37	12	78400883	78400883	+	Missense_Mutation	SNP	C	C	G	rs370324426		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:78400883C>G	ENST00000397909.2	+	8	1738	c.1565C>G	c.(1564-1566)cCg>cGg	p.P522R	NAV3_ENST00000266692.7_Missense_Mutation_p.P522R|NAV3_ENST00000536525.2_Missense_Mutation_p.P522R|NAV3_ENST00000228327.6_Missense_Mutation_p.P522R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	522						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCTTAATTCCGTCTTCCAGT	0.453										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1564-1566)cCg>cGg		neuron navigator 3							67.0	66.0	67.0					12																	78400883		1914	4113	6027	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400883C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1565C>G	12.37:g.78400883C>G	ENSP00000381007:p.Pro522Arg	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.P522R|NAV3_ENST00000228327.6_Missense_Mutation_p.P522R|NAV3_ENST00000266692.7_Missense_Mutation_p.P522R	p.P522R			Q8IVL0	NAV3_HUMAN			8	1738	+			522					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1565C>G		.	.	.	.	.	.	.	.	.	.	C	14.61	2.588128	0.46110	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.49	4.59	0.56863	.	0.000000	0.39985	U	0.001215	T	0.36193	0.0958	M	0.68593	2.085	0.80722	D	1	P;P	0.52061	0.95;0.897	P;P	0.48400	0.576;0.525	T	0.17137	-1.0379	10	0.51188	T	0.08	-14.3044	14.6836	0.69035	0.0:0.9292:0.0:0.0708	.	522;522	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	R	522	ENSP00000446628:P522R;ENSP00000446132:P522R;ENSP00000381007:P522R;ENSP00000228327:P522R;ENSP00000266692:P522R	ENSP00000228327:P522R	P	+	2	0	NAV3	76925014	0.998000	0.40836	0.961000	0.40146	0.160000	0.22226	5.759000	0.68785	2.595000	0.87683	0.650000	0.86243	CCG		0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		20	59	0	0	0	1	0	20	59				
ADCY5	111	broad.mit.edu	37	3	123005539	123005539	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:123005539C>A	ENST00000462833.1	-	20	4862	c.3650G>T	c.(3649-3651)cGc>cTc	p.R1217L	ADCY5_ENST00000491190.1_Missense_Mutation_p.R875L|RP11-797D24.4_ENST00000608436.1_RNA|ADCY5_ENST00000309879.5_Missense_Mutation_p.R867L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1217					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CACCTGGATGCGGTCGGGTAC	0.632											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3649-3651)cGc>cTc		adenylate cyclase 5							168.0	125.0	140.0					3																	123005539		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123005539C>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3650G>T	3.37:g.123005539C>A	ENSP00000419361:p.Arg1217Leu		OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1523	ADCY5_ENST00000491190.1_Missense_Mutation_p.R875L|ADCY5_ENST00000309879.5_Missense_Mutation_p.R867L	p.R1217L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	20	4862	-			1217					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3650G>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088067	0.94100	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	D;D;D	0.81499	-1.5;-1.5;-1.5	5.15	5.15	0.70609	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000001	D	0.88325	0.6406	M	0.87758	2.905	0.58432	D	0.999997	P;P	0.52463	0.953;0.493	P;B	0.52066	0.689;0.44	D	0.89571	0.3813	10	0.52906	T	0.07	.	18.8328	0.92148	0.0:1.0:0.0:0.0	.	1217;875	O95622;B3KWA8	ADCY5_HUMAN;.	L	1217;875;867	ENSP00000419361:R1217L;ENSP00000418537:R875L;ENSP00000308685:R867L	ENSP00000308685:R867L	R	-	2	0	ADCY5	124488229	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.932000	0.70121	2.677000	0.91161	0.563000	0.77884	CGC		0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		5	105	1	0	8.12818e-05	1	8.7828e-05	5	105				
RALGPS1	9649	broad.mit.edu	37	9	129958792	129958792	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:129958792G>A	ENST00000259351.5	+	13	1344	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	359					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTAAAAGTGCGACATTCCCAT	0.512																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1075-1077)gcG>gcA		Ral GEF with PH domain and SH3 binding motif 1							204.0	183.0	190.0					9																	129958792		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129958792G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1077G>A	9.37:g.129958792G>A						RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	p.A359A	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			13	1344	+			359					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.1077G>A	CCDS35143.1																																																																																				0.512	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		10	122	0	0	0	1	0	10	122				
TRIO	7204	broad.mit.edu	37	5	14419991	14419991	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:14419991G>T	ENST00000344204.4	+	34	5088	c.5064G>T	c.(5062-5064)cgG>cgT	p.R1688R	TRIO_ENST00000537187.1_Silent_p.R1688R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1688	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTGGAGCGGCCGCATGACA	0.622																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(5062-5064)cgG>cgT		trio Rho guanine nucleotide exchange factor							47.0	43.0	44.0					5																	14419991		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14419991G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5064G>T	5.37:g.14419991G>T						TRIO_ENST00000537187.1_Silent_p.R1688R	p.R1688R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			34	5088	+	Lung NSC(4;0.000742)		1688			SH3 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.5064G>T	CCDS3883.1																																																																																				0.622	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		23	21	1	0	6.44725e-10	1	7.68895e-10	23	21				
LPHN2	23266	broad.mit.edu	37	1	82431761	82431761	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:82431761C>A	ENST00000370728.1	+	14	2670	c.2025C>A	c.(2023-2025)ctC>ctA	p.L675L	LPHN2_ENST00000370725.1_Silent_p.L675L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Silent_p.L662L|LPHN2_ENST00000319517.6_Silent_p.L662L|LPHN2_ENST00000370717.2_Silent_p.L675L|LPHN2_ENST00000271029.4_Silent_p.L675L|LPHN2_ENST00000370730.1_Silent_p.L675L|LPHN2_ENST00000359929.3_Silent_p.L662L|LPHN2_ENST00000370715.1_Silent_p.L662L|LPHN2_ENST00000370713.1_Silent_p.L662L|LPHN2_ENST00000394879.1_Silent_p.L662L|LPHN2_ENST00000370727.1_Silent_p.L675L|LPHN2_ENST00000335786.5_Silent_p.L675L|LPHN2_ENST00000370721.1_Silent_p.L600L			O95490	LPHN2_HUMAN	latrophilin 2	675					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGCCGTACTCAGTACAGAAG	0.438																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2023-2025)ctC>ctA		latrophilin 2							116.0	114.0	115.0					1																	82431761		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82431761C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2025C>A	1.37:g.82431761C>A						LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Silent_p.L675L|LPHN2_ENST00000319517.6_Silent_p.L662L|LPHN2_ENST00000370730.1_Silent_p.L675L|LPHN2_ENST00000370721.1_Silent_p.L600L|LPHN2_ENST00000370723.1_Silent_p.L662L|LPHN2_ENST00000370715.1_Silent_p.L662L|LPHN2_ENST00000370725.1_Silent_p.L675L|LPHN2_ENST00000359929.3_Silent_p.L662L|LPHN2_ENST00000394879.1_Silent_p.L662L|LPHN2_ENST00000370713.1_Silent_p.L662L|LPHN2_ENST00000370717.2_Silent_p.L675L|LPHN2_ENST00000335786.5_Silent_p.L675L|LPHN2_ENST00000271029.4_Silent_p.L675L	p.L675L			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	14	2670	+			675					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.2025C>A		.	.	.	.	.	.	.	.	.	.	C	8.891	0.954098	0.18431	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.63	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7479	0.28879	0.0:0.6819:0.1182:0.1998	.	.	.	.	X	543	.	.	S	+	2	0	LPHN2	82204349	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	0.875000	0.28079	0.320000	0.23234	0.491000	0.48974	TCA		0.438	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		17	131	1	0	2.39187e-15	1	3.10558e-15	17	131				
DST	667	broad.mit.edu	37	6	56479240	56479240	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:56479240T>G	ENST00000361203.3	-	33	4346	c.4339A>C	c.(4339-4341)Aaa>Caa	p.K1447Q	DST_ENST00000370769.4_Missense_Mutation_p.K1447Q|DST_ENST00000446842.2_Missense_Mutation_p.K1121Q|DST_ENST00000312431.6_Missense_Mutation_p.K1447Q|DST_ENST00000421834.2_Missense_Mutation_p.K1447Q|DST_ENST00000370788.2_Missense_Mutation_p.K1447Q|DST_ENST00000370754.5_Missense_Mutation_p.K1625Q|DST_ENST00000244364.6_Missense_Mutation_p.K1121Q			Q03001	DYST_HUMAN	dystonin	1447					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCAATTCTTTGGCTTTTTCA	0.358																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4873-4875)Aaa>Caa		dystonin							170.0	152.0	157.0					6																	56479240		1833	4091	5924	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56479240T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4339A>C	6.37:g.56479240T>G	ENSP00000354508:p.Lys1447Gln					DST_ENST00000312431.6_Missense_Mutation_p.K1447Q|DST_ENST00000370769.4_Missense_Mutation_p.K1447Q|DST_ENST00000421834.2_Missense_Mutation_p.K1447Q|DST_ENST00000446842.2_Missense_Mutation_p.K1121Q|DST_ENST00000244364.6_Missense_Mutation_p.K1121Q|DST_ENST00000370788.2_Missense_Mutation_p.K1447Q|DST_ENST00000361203.3_Missense_Mutation_p.K1447Q	p.K1625Q			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		36	4872	-	Lung NSC(77;0.103)		1447					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4873A>C		.	.	.	.	.	.	.	.	.	.	T	21.5	4.158955	0.78226	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203	T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.88	5.88	0.94601	.	0.340590	0.25225	N	0.032206	T	0.12860	0.0312	L	0.27053	0.805	0.22127	N	0.999348	B;D;D;D;B;D	0.71674	0.037;0.998;0.996;0.998;0.037;0.973	B;P;P;D;B;P	0.65010	0.034;0.829;0.622;0.931;0.034;0.786	T	0.11348	-1.0591	9	0.14252	T	0.57	.	6.2939	0.21075	0.0:0.1905:0.0:0.8095	.	1447;1447;1625;1121;1447;1121	Q5TBT1;E7ERU2;E9PEB9;Q03001-9;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	Q	1121;1625;1447;1447;1121;1447;1447;1447;1121	ENSP00000244364:K1121Q;ENSP00000359790:K1625Q;ENSP00000359805:K1447Q;ENSP00000400883:K1447Q;ENSP00000393645:K1121Q;ENSP00000307959:K1447Q;ENSP00000359824:K1447Q;ENSP00000354508:K1447Q;ENSP00000404924:K1121Q	ENSP00000244364:K1121Q	K	-	1	0	DST	56587199	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.021000	0.41020	2.250000	0.74265	0.528000	0.53228	AAA		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	35	0	0	0	1	0	10	35				
IMPG1	3617	broad.mit.edu	37	6	76751766	76751766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:76751766C>A	ENST00000369950.3	-	2	334	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACATTTTTTCAGTACTTTCA	0.353																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(145-147)Gaa>Taa		interphotoreceptor matrix proteoglycan 1							182.0	174.0	176.0					6																	76751766		2203	4300	6503	SO:0001587	stop_gained	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751766C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.145G>T	6.37:g.76751766C>A	ENSP00000358966:p.Glu49*					IMPG1_ENST00000369963.3_Intron	p.E49*	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			2	334	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	49						Nonsense_Mutation	SNP	ENST00000369950.3	37	c.145G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163443	0.57476	.	.	ENSG00000112706	ENST00000369950	.	.	.	6.07	-0.286	0.12862	.	0.812302	0.11129	N	0.596506	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4545	0.02382	0.2209:0.3952:0.104:0.28	.	.	.	.	X	49	.	.	E	-	1	0	IMPG1	76808486	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.604000	0.05667	-0.102000	0.12197	0.655000	0.94253	GAA		0.353	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		31	127	1	0	1.99505e-19	1	2.68789e-19	31	127				
ZNF138	7697	broad.mit.edu	37	7	64292517	64292517	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:64292517A>G	ENST00000359735.3	+	4	1073	c.726A>G	c.(724-726)atA>atG	p.I242M	ZNF138_ENST00000437743.1_Missense_Mutation_p.I267M|ZNF138_ENST00000397136.2_Missense_Mutation_p.I242M|ZNF138_ENST00000307355.7_Missense_Mutation_p.I299M|ZNF138_ENST00000440155.2_Missense_Mutation_p.I273M|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AACATCAGATAATTTATACTG	0.348																																						ENST00000359735.3																			0				kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7						c.(724-726)atA>atG		zinc finger protein 138							37.0	40.0	39.0					7																	64292517		2191	4294	6485	SO:0001583	missense	7697				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:64292517A>G	U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"""Zinc fingers, C2H2-type"", ""-"""	12922	protein-coding gene	gene with protein product		604080	"""zinc finger protein 138 (clone pHZ-32)"""				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.726A>G	7.37:g.64292517A>G	ENSP00000352770:p.Ile242Met					ZNF138_ENST00000307355.7_Missense_Mutation_p.I299M|ZNF138_ENST00000397136.2_Missense_Mutation_p.I242M|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000440155.2_Missense_Mutation_p.I273M|ZNF138_ENST00000437743.1_Missense_Mutation_p.I267M	p.I242M	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN			4	1073	+		Lung NSC(55;0.0795)|all_lung(88;0.18)	273					B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	ENST00000359735.3	37	c.726A>G		.	.	.	.	.	.	.	.	.	.	.	3.925	-0.017433	0.07681	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	N	0.04043	-0.29	0.09310	N	0.999999	B;B;P	0.48407	0.205;0.205;0.91	B;B;P	0.55161	0.098;0.098;0.77	T	0.17107	-1.0380	9	0.62326	D	0.03	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	273;267;242	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	M	299;242;273;267;242	ENSP00000303533:I299M;ENSP00000352770:I242M;ENSP00000407262:I273M;ENSP00000399528:I267M;ENSP00000380325:I242M	ENSP00000303533:I299M	I	+	3	3	ZNF138	63929952	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.926000	0.03988	0.166000	0.19597	0.164000	0.16699	ATA		0.348	ZNF138-201	KNOWN	basic	protein_coding	protein_coding		NM_006524		16	45	0	0	0	1	0	16	45				
TRIM62	55223	broad.mit.edu	37	1	33625346	33625346	+	Missense_Mutation	SNP	C	C	T	rs371211863		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:33625346C>T	ENST00000291416.5	-	3	937	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	TRIM62_ENST00000543586.1_Missense_Mutation_p.R114Q|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	235					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TTCAGCCAGCCGCTCCTGCAG	0.692																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(703-705)cGg>cAg		tripartite motif containing 62		C	GLN/ARG	1,4405		0,1,2202	45.0	46.0	46.0		704	4.8	1.0	1		46	0,8600		0,0,4300	no	missense	TRIM62	NM_018207.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	235/476	33625346	1,13005	2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33625346C>T	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.704G>A	1.37:g.33625346C>T	ENSP00000291416:p.Arg235Gln					TRIM62_ENST00000543586.1_Missense_Mutation_p.R114Q|TRIM62_ENST00000485148.1_5'UTR	p.R235Q	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			3	937	-		Myeloproliferative disorder(586;0.0393)	235					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.704G>A	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337519	0.95758	2.27E-4	0.0	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	T;T	0.42513	0.97;0.97	4.76	4.76	0.60689	.	0.069587	0.64402	D	0.000018	T	0.39545	0.1082	L	0.29908	0.895	0.58432	D	0.999999	D	0.67145	0.996	P	0.47864	0.559	T	0.35101	-0.9802	10	0.56958	D	0.05	.	15.638	0.76970	0.0:1.0:0.0:0.0	.	235	Q9BVG3	TRI62_HUMAN	Q	235;235;235;114	ENSP00000291416:R235Q;ENSP00000441173:R114Q	ENSP00000291416:R235Q	R	-	2	0	TRIM62	33397933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.129000	0.57957	2.355000	0.79922	0.655000	0.94253	CGG		0.692	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		14	38	0	0	0	1	0	14	38				
PCDH9	5101	broad.mit.edu	37	13	67800388	67800388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:67800388C>G	ENST00000377865.2	-	1	2319	c.2185G>C	c.(2185-2187)Gat>Cat	p.D729H	PCDH9_ENST00000544246.1_Missense_Mutation_p.D729H|PCDH9_ENST00000377861.3_Missense_Mutation_p.D729H|PCDH9_ENST00000456367.1_Missense_Mutation_p.D729H|PCDH9_ENST00000328454.5_Missense_Mutation_p.D729H			Q9HC56	PCDH9_HUMAN	protocadherin 9	729	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTACTGGATCAATCCGGAAT	0.428																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2185-2187)Gat>Cat		protocadherin 9							149.0	145.0	146.0					13																	67800388		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800388C>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2185G>C	13.37:g.67800388C>G	ENSP00000367096:p.Asp729His					PCDH9_ENST00000377865.2_Missense_Mutation_p.D729H|PCDH9_ENST00000328454.5_Missense_Mutation_p.D729H|PCDH9_ENST00000456367.1_Missense_Mutation_p.D729H|PCDH9_ENST00000377861.3_Missense_Mutation_p.D729H	p.D729H	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2876	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	729			Cadherin 7.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2185G>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372882	0.61624	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.998;0.999	D;D;D;D	0.83275	0.996;0.979;0.981;0.989	T	0.82086	-0.0631	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	729;729;729;729	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	H	729	ENSP00000442186:D729H;ENSP00000367096:D729H;ENSP00000401699:D729H;ENSP00000332060:D729H;ENSP00000367092:D729H	ENSP00000332060:D729H	D	-	1	0	PCDH9	66698389	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GAT		0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		37	121	0	0	0	1	0	37	121				
PDHA2	5161	broad.mit.edu	37	4	96761769	96761769	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:96761769G>T	ENST00000295266.4	+	1	531	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	156					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TGTATACCAAGAACTTCTATG	0.507																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(466-468)aaG>aaT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						83.0	81.0	82.0					4																	96761769		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761769G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.468G>T	4.37:g.96761769G>T	ENSP00000295266:p.Lys156Asn						p.K156N	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	531	+		Hepatocellular(203;0.114)	156					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.468G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	7.378	0.628203	0.14257	.	.	ENSG00000163114	ENST00000295266	D	0.96232	-3.95	4.77	-1.84	0.07809	Dehydrogenase, E1 component (1);	0.219604	0.46145	D	0.000306	D	0.93067	0.7793	M	0.75085	2.285	0.19300	N	0.999978	B	0.18166	0.026	B	0.18871	0.023	D	0.84491	0.0611	10	0.42905	T	0.14	-16.1436	4.3331	0.11073	0.0749:0.3644:0.3119:0.2488	.	156	P29803	ODPAT_HUMAN	N	156	ENSP00000295266:K156N	ENSP00000295266:K156N	K	+	3	2	PDHA2	96980792	0.019000	0.18553	0.000000	0.03702	0.397000	0.30659	0.569000	0.23638	-0.533000	0.06323	0.467000	0.42956	AAG		0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			40	77	1	0	4.90274e-10	1	5.86871e-10	40	77				
RIMS2	9699	broad.mit.edu	37	8	104955103	104955103	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:104955103T>C	ENST00000436393.2	+	12	2225	c.1984T>C	c.(1984-1986)Tat>Cat	p.Y662H	RIMS2_ENST00000262231.10_Missense_Mutation_p.Y723H|RIMS2_ENST00000406091.3_Missense_Mutation_p.Y884H|RIMS2_ENST00000507740.1_Missense_Mutation_p.Y676H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	946					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCTTCTCCATATATGCCACG	0.378										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2026-2028)Tat>Cat		regulating synaptic membrane exocytosis 2							77.0	72.0	73.0					8																	104955103		1882	4121	6003	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955103T>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1984T>C	8.37:g.104955103T>C	ENSP00000390665:p.Tyr662His	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.Y723H|RIMS2_ENST00000406091.3_Missense_Mutation_p.Y884H|RIMS2_ENST00000436393.2_Missense_Mutation_p.Y662H	p.Y676H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		11	2262	+			946			PDZ.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2026T>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.210829	0.79240	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.19250	2.16;2.63;2.36;2.34;2.26;2.65	5.17	5.17	0.71159	.	.	.	.	.	T	0.33118	0.0852	L	0.46157	1.445	0.80722	D	1	P;B;P;B;D;P	0.57571	0.94;0.034;0.919;0.331;0.98;0.942	P;B;P;B;P;P	0.56700	0.634;0.062;0.52;0.332;0.804;0.785	T	0.01899	-1.1251	9	0.33141	T	0.24	.	15.3133	0.74053	0.0:0.0:0.0:1.0	.	946;946;662;723;676;884	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	H	884;899;884;946;723;676;676;662	ENSP00000427018:Y884H;ENSP00000384892:Y884H;ENSP00000262231:Y723H;ENSP00000423559:Y676H;ENSP00000386228:Y676H;ENSP00000390665:Y662H	ENSP00000262231:Y723H	Y	+	1	0	RIMS2	105024279	1.000000	0.71417	0.922000	0.36590	0.983000	0.72400	6.243000	0.72384	2.064000	0.61679	0.482000	0.46254	TAT		0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		22	64	0	0	0	1	0	22	64				
OR2M2	391194	broad.mit.edu	37	1	248344165	248344165	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248344165G>A	ENST00000359682.2	+	1	878	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	293						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)			TACAGCCTCCGCAACAAGGAG	0.463																																						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.(877-879)cGc>cAc		olfactory receptor, family 2, subfamily M, member 2							181.0	173.0	176.0					1																	248344165		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344165G>A	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.878G>A	1.37:g.248344165G>A	ENSP00000352710:p.Arg293His						p.R293H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	878	+	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)		293					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.878G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	9.089	1.001315	0.19121	.	.	ENSG00000198601	ENST00000359682	T	0.41065	1.01	2.14	0.053	0.14305	.	.	.	.	.	T	0.45316	0.1336	M	0.87971	2.92	0.09310	N	1	B	0.24675	0.109	B	0.20577	0.03	T	0.47315	-0.9127	9	0.72032	D	0.01	.	7.526	0.27656	0.2356:0.0:0.7644:0.0	.	293	Q96R28	OR2M2_HUMAN	H	293	ENSP00000352710:R293H	ENSP00000352710:R293H	R	+	2	0	OR2M2	246410788	0.126000	0.22350	0.000000	0.03702	0.001000	0.01503	2.143000	0.42187	-0.103000	0.12175	-0.391000	0.06502	CGC		0.463	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		52	234	0	0	0	1	0	52	234				
SV2B	9899	broad.mit.edu	37	15	91827366	91827366	+	Silent	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:91827366C>G	ENST00000394232.1	+	11	2093	c.1623C>G	c.(1621-1623)gtC>gtG	p.V541V	SV2B_ENST00000330276.4_Silent_p.V541V|SV2B_ENST00000545111.2_Silent_p.V390V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	541					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTTACCTCGTCAGCTTCCTGG	0.502																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1621-1623)gtC>gtG		synaptic vesicle glycoprotein 2B							155.0	137.0	143.0					15																	91827366		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91827366C>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1623C>G	15.37:g.91827366C>G						SV2B_ENST00000330276.4_Silent_p.V541V|SV2B_ENST00000545111.2_Silent_p.V390V	p.V541V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		11	2093	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		541					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1623C>G	CCDS10370.1																																																																																				0.502	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		50	140	0	0	0	1	0	50	140				
PCOLCE2	26577	broad.mit.edu	37	3	142561853	142561853	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:142561853G>A	ENST00000295992.3	-	4	792	c.486C>T	c.(484-486)tcC>tcT	p.S162S	PCOLCE2_ENST00000485766.1_Silent_p.S162S	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	162	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TAAAAGAGCCGGAAGGTCTGT	0.473																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(484-486)tcC>tcT		procollagen C-endopeptidase enhancer 2							84.0	86.0	85.0					3																	142561853		2203	4300	6503	SO:0001819	synonymous_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142561853G>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.486C>T	3.37:g.142561853G>A						PCOLCE2_ENST00000485766.1_Silent_p.S162S	p.S162S	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			4	792	-			162			CUB 2.		B2RCH9|D3DNG4|Q9BRH3	Silent	SNP	ENST00000295992.3	37	c.486C>T	CCDS3127.1																																																																																				0.473	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		5	187	0	0	0	1	0	5	187				
PGM3	5238	broad.mit.edu	37	6	83884177	83884177	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:83884177C>T	ENST00000283977.4	-	9	1041	c.915G>A	c.(913-915)aaG>aaA	p.K305K	PGM3_ENST00000506587.1_Silent_p.K414K|PGM3_ENST00000512866.1_Silent_p.K386K|PGM3_ENST00000513973.1_Silent_p.K386K					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		ATTGTTTTATCTTCATTTCAA	0.348																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1156-1158)aaG>aaA		phosphoglucomutase 3							141.0	127.0	132.0					6																	83884177		2202	4297	6499	SO:0001819	synonymous_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83884177C>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.915G>A	6.37:g.83884177C>T						PGM3_ENST00000512866.1_Silent_p.K386K|PGM3_ENST00000506587.1_Silent_p.K414K|PGM3_ENST00000283977.4_Silent_p.K305K	p.K386K	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	10	1274	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	386						Silent	SNP	ENST00000283977.4	37	c.1158G>A																																																																																					0.348	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		6	62	0	0	0	1	0	6	62				
LRRC7	57554	broad.mit.edu	37	1	70397246	70397246	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:70397246G>T	ENST00000035383.5	+	6	620	c.590G>T	c.(589-591)gGt>gTt	p.G197V	LRRC7_ENST00000310961.5_Missense_Mutation_p.G202V|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	197						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATGAATTCGGTGAGCTGGTA	0.388																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(604-606)gGt>gTt		leucine rich repeat containing 7							94.0	87.0	89.0					1																	70397246		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70397246G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.590G>T	1.37:g.70397246G>T	ENSP00000035383:p.Gly197Val					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.G197V	p.G202V			Q96NW7	LRRC7_HUMAN			9	1023	+			197					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.605G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460177	0.43736	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.09445	2.98;2.98	5.92	4.06	0.47325	.	0.366689	0.31542	N	0.007467	T	0.02342	0.0072	N	0.10809	0.05	0.80722	D	1	B	0.14805	0.011	B	0.25759	0.063	T	0.28427	-1.0044	10	0.49607	T	0.09	.	7.9391	0.29948	0.1785:0.0:0.8215:0.0	.	197	Q96NW7	LRRC7_HUMAN	V	202;197;20	ENSP00000309245:G202V;ENSP00000035383:G197V	ENSP00000035383:G197V	G	+	2	0	LRRC7	70169834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.850000	0.39328	1.503000	0.48686	0.650000	0.86243	GGT		0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		10	41	1	0	6.40141e-05	1	6.9637e-05	10	41				
TMEM19	55266	broad.mit.edu	37	12	72094709	72094709	+	Silent	SNP	G	G	T	rs139427215		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:72094709G>T	ENST00000266673.5	+	6	1539	c.945G>T	c.(943-945)ctG>ctT	p.L315L		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	315						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTGAATCTGTTTTCTTCTG	0.473																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(943-945)ctG>ctT		transmembrane protein 19							313.0	269.0	284.0					12																	72094709		2203	4300	6503	SO:0001819	synonymous_variant	55266					integral to membrane		g.chr12:72094709G>T	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.945G>T	12.37:g.72094709G>T							p.L315L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1539	+		Breast(359;0.0889)	315					B2RDL2|Q53FY3|Q9NV41	Silent	SNP	ENST00000266673.5	37	c.945G>T	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	G	9.445	1.089079	0.20390	.	.	ENSG00000139291	ENST00000550787	.	.	.	5.93	-2.17	0.07059	.	.	.	.	.	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38178	-0.9673	4	.	.	.	-9.193	5.1202	0.14856	0.1774:0.4197:0.3082:0.0947	.	.	.	.	F	131	.	.	V	+	1	0	TMEM19	70380976	0.998000	0.40836	0.984000	0.44739	0.996000	0.88848	0.371000	0.20450	-0.372000	0.07992	0.655000	0.94253	GTT		0.473	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		89	266	1	0	4.90379e-48	1	7.21013e-48	89	266				
DNAH5	1767	broad.mit.edu	37	5	13716792	13716792	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:13716792G>T	ENST00000265104.4	-	74	12817	c.12713C>A	c.(12712-12714)tCc>tAc	p.S4238Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4238					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTGGTCCAGGAGACACCCTG	0.408									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12712-12714)tCc>tAc		dynein, axonemal, heavy chain 5							63.0	57.0	59.0					5																	13716792		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13716792G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12713C>A	5.37:g.13716792G>T	ENSP00000265104:p.Ser4238Tyr						p.S4238Y	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			74	12817	-	Lung NSC(4;0.00476)		4238					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12713C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486886	0.63962	.	.	ENSG00000039139	ENST00000265104	T	0.08720	3.06	5.53	5.53	0.82687	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.43410	-0.9393	10	0.72032	D	0.01	.	16.4782	0.84144	0.0:0.1307:0.8693:0.0	.	4238	Q8TE73	DYH5_HUMAN	Y	4238	ENSP00000265104:S4238Y	ENSP00000265104:S4238Y	S	-	2	0	DNAH5	13769792	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	7.994000	0.88315	2.611000	0.88343	0.650000	0.86243	TCC		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	59	1	0	4.3838e-07	1	4.91841e-07	14	59				
POLR3E	55718	broad.mit.edu	37	16	22325008	22325008	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:22325008G>T	ENST00000299853.5	+	7	599	c.432G>T	c.(430-432)aaG>aaT	p.K144N	POLR3E_ENST00000564209.1_Missense_Mutation_p.K144N|POLR3E_ENST00000418581.2_Missense_Mutation_p.K108N|POLR3E_ENST00000359210.4_Missense_Mutation_p.K144N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	144					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCTGGATAAGGCTGACGCCA	0.637																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(430-432)aaG>aaT		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							47.0	48.0	48.0					16																	22325008		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22325008G>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.432G>T	16.37:g.22325008G>T	ENSP00000299853:p.Lys144Asn					POLR3E_ENST00000418581.2_Missense_Mutation_p.K108N|POLR3E_ENST00000564209.1_Missense_Mutation_p.K144N|POLR3E_ENST00000359210.4_Missense_Mutation_p.K144N	p.K144N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	7	599	+			144					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.432G>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166937	0.78339	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.58210	0.35;0.35;0.35	5.57	2.08	0.27032	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;0.997;0.995;0.993;0.995	T	0.69308	-0.5179	10	0.87932	D	0	-30.9655	7.926	0.29874	0.3742:0.0:0.6258:0.0	.	88;108;144;144;144;144	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	N	144;144;108	ENSP00000299853:K144N;ENSP00000352140:K144N;ENSP00000399254:K108N	ENSP00000299853:K144N	K	+	3	2	POLR3E	22232509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.414000	0.34736	0.717000	0.32145	0.561000	0.74099	AAG		0.637	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		17	50	1	0	1.56452e-12	1	1.96022e-12	17	50				
PMFBP1	83449	broad.mit.edu	37	16	72170402	72170402	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:72170402T>C	ENST00000237353.10	-	9	1409	c.1148A>G	c.(1147-1149)cAg>cGg	p.Q383R	PMFBP1_ENST00000537465.1_Missense_Mutation_p.Q383R|PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q238R	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	383						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTGCAGCTCCTGCAGCCGGCA	0.552																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1147-1149)cAg>cGg		polyamine modulated factor 1 binding protein 1							121.0	114.0	116.0					16																	72170402		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72170402T>C	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1148A>G	16.37:g.72170402T>C	ENSP00000237353:p.Gln383Arg					PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q383R|PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q238R	p.Q383R			Q8TBY8	PMFBP_HUMAN			9	1306	-		Ovarian(137;0.179)	383					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1148A>G	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950121	0.73787	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.14266	2.52;2.53;2.52	5.21	4.1	0.47936	.	0.000000	0.38778	N	0.001567	T	0.09598	0.0236	L	0.36672	1.1	0.25504	N	0.987529	B;B;B	0.29432	0.244;0.244;0.244	B;B;B	0.24974	0.057;0.057;0.057	T	0.24261	-1.0165	10	0.18710	T	0.47	-6.2982	9.1076	0.36707	0.0:0.088:0.0:0.912	.	383;383;383	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	R	383;383;238	ENSP00000443817:Q383R;ENSP00000237353:Q383R;ENSP00000347854:Q238R	ENSP00000237353:Q383R	Q	-	2	0	PMFBP1	70727903	1.000000	0.71417	0.998000	0.56505	0.193000	0.23685	1.575000	0.36493	1.953000	0.56701	0.460000	0.39030	CAG		0.552	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		47	116	0	0	0	1	0	47	116				
OR5D13	390142	broad.mit.edu	37	11	55541364	55541364	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55541364T>A	ENST00000361760.1	+	1	451	c.451T>A	c.(451-453)Tat>Aat	p.Y151N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151						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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTGGGTCCTATACATGGGG	0.423																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(451-453)Tat>Aat		olfactory receptor, family 5, subfamily D, member 13							193.0	192.0	192.0					11																	55541364		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541364T>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.451T>A	11.37:g.55541364T>A	ENSP00000354800:p.Tyr151Asn						p.Y151N	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	451	+		all_epithelial(135;0.196)	151					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.451T>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411070	0.42817	.	.	ENSG00000198877	ENST00000361760	T	0.38401	1.14	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31233	U	0.008015	T	0.69593	0.3128	H	0.96943	3.91	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65524	-0.6147	10	0.87932	D	0	-1.1176	10.9515	0.47332	0.0:0.0:0.0:1.0	.	151	Q8NGL4	OR5DD_HUMAN	N	151	ENSP00000354800:Y151N	ENSP00000354800:Y151N	Y	+	1	0	OR5D13	55297940	0.543000	0.26434	0.007000	0.13788	0.003000	0.03518	4.422000	0.59854	1.535000	0.49220	0.398000	0.26397	TAT		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		54	176	0	0	0	1	0	54	176				
CCR3	1232	broad.mit.edu	37	3	46307076	46307076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:46307076C>T	ENST00000357422.2	+	4	970	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CCR3_ENST00000541018.1_Nonsense_Mutation_p.R143*|CCR3_ENST00000395942.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000395940.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000545097.1_Nonsense_Mutation_p.R164*			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	143					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTTTGCCCTTCGAGCCCGGAC	0.498																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(427-429)Cga>Tga		chemokine (C-C motif) receptor 3							91.0	87.0	88.0					3																	46307076		2203	4300	6503	SO:0001587	stop_gained	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307076C>T	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.427C>T	3.37:g.46307076C>T	ENSP00000350003:p.Arg143*					CCR3_ENST00000395942.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000395940.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000541018.1_Nonsense_Mutation_p.R143*|CCR3_ENST00000545097.1_Nonsense_Mutation_p.R164*	p.R143*			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	970	+			143					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Nonsense_Mutation	SNP	ENST00000357422.2	37	c.427C>T	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930907	0.92389	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	.	.	.	5.86	4.91	0.64330	.	0.266926	0.25288	N	0.031743	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	13.6817	0.62489	0.263:0.737:0.0:0.0	.	.	.	.	X	143;164;143;143;143	.	ENSP00000350003:R143X	R	+	1	2	CCR3	46282080	0.001000	0.12720	0.175000	0.22980	0.747000	0.42532	1.005000	0.29834	2.766000	0.95052	0.655000	0.94253	CGA		0.498	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			16	65	0	0	0	1	0	16	65				
COL28A1	340267	broad.mit.edu	37	7	7516766	7516766	+	Missense_Mutation	SNP	C	C	T	rs200523102		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:7516766C>T	ENST00000399429.3	-	14	1350	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	404	Collagen-like 3.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G404R(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AATCCTTCTCCGGGTAAGCCC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17461	0.001		0.0	False		,,,				2504	0.0					ENST00000399429.3																			1	Substitution - Missense(1)	p.G404R(1)	large_intestine(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1210-1212)Gga>Aga		collagen, type XXVIII, alpha 1		C	ARG/GLY	0,3706		0,0,1853	70.0	71.0	71.0		1210	4.9	1.0	7		71	2,8176		0,2,4087	no	missense	COL28A1	NM_001037763.2	125	0,2,5940	TT,TC,CC		0.0245,0.0,0.0168	probably-damaging	404/1126	7516766	2,11882	1853	4089	5942	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7516766C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1210G>A	7.37:g.7516766C>T	ENSP00000382356:p.Gly404Arg						p.G404R	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	14	1350	-		Ovarian(82;0.0789)	404			Collagen-like 3.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1210G>A	CCDS43553.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.7	4.185548	0.78677	0.0	2.45E-4	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.99637	-6.29	4.94	4.94	0.65067	.	0.177470	0.35646	U	0.003070	D	0.99750	0.9900	H	0.96748	3.875	0.47476	D	0.999439	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97267	0.9908	10	0.72032	D	0.01	-6.6293	13.8698	0.63612	0.0:1.0:0.0:0.0	.	404;404	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	R	404	ENSP00000382356:G404R	ENSP00000382347:G404R	G	-	1	0	COL28A1	7483291	0.978000	0.34361	0.970000	0.41538	0.992000	0.81027	2.692000	0.47018	2.749000	0.94314	0.491000	0.48974	GGA		0.473	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		13	59	0	0	0	1	0	13	59				
NSD1	64324	broad.mit.edu	37	5	176687152	176687152	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176687152G>A	ENST00000439151.2	+	14	5174	c.5129G>A	c.(5128-5130)tGc>tAc	p.C1710Y	NSD1_ENST00000354179.4_Missense_Mutation_p.C1441Y|NSD1_ENST00000361032.4_Missense_Mutation_p.C1607Y|NSD1_ENST00000347982.4_Missense_Mutation_p.C1441Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1710					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTAGCTGGTGCTTTGTGTGC	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM043035	NSD1	M		c.(5128-5130)tGc>tAc		nuclear receptor binding SET domain protein 1							65.0	60.0	62.0					5																	176687152		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687152G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5129G>A	5.37:g.176687152G>A	ENSP00000395929:p.Cys1710Tyr	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.C1607Y|NSD1_ENST00000354179.4_Missense_Mutation_p.C1441Y|NSD1_ENST00000347982.4_Missense_Mutation_p.C1441Y	p.C1710Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5174	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1710					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5129G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435716	0.83885	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63	5.51	5.51	0.81932	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.99753	0.9901	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97010	0.9735	10	0.87932	D	0	.	19.783	0.96424	0.0:0.0:1.0:0.0	.	1441;1607;1710	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Y	1441;1710;1441;1607	ENSP00000346111:C1441Y;ENSP00000395929:C1710Y;ENSP00000343209:C1441Y;ENSP00000354310:C1607Y	ENSP00000343209:C1441Y	C	+	2	0	NSD1	176619758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.752000	0.94435	0.467000	0.42956	TGC		0.383	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		8	78	0	0	0	1	0	8	78				
TCEB3	6924	broad.mit.edu	37	1	24078974	24078974	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:24078974C>T	ENST00000418390.2	+	5	1852	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	TCEB3_ENST00000609199.1_Silent_p.L501L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	527					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGCCTTCCCTCGAGCTGATAT	0.478																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1579-1581)ctC>ctT		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							109.0	92.0	98.0					1																	24078974		2203	4300	6503	SO:0001819	synonymous_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078974C>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1581C>T	1.37:g.24078974C>T							p.L527L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	5	1852	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	527					B2R7Q8|Q8IXH1	Silent	SNP	ENST00000418390.2	37	c.1581C>T	CCDS239.2																																																																																				0.478	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		7	34	0	0	0	1	0	7	34				
TINAGL1	64129	broad.mit.edu	37	1	32049108	32049108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:32049108G>T	ENST00000271064.7	+	5	590	c.514G>T	c.(514-516)Gag>Tag	p.E172*	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Nonsense_Mutation_p.E141*	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	172					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GACCCTGGATGAGGGCATTCG	0.577																																						ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(514-516)Gag>Tag		tubulointerstitial nephritis antigen-like 1							108.0	86.0	94.0					1																	32049108		2203	4300	6503	SO:0001587	stop_gained	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32049108G>T	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.514G>T	1.37:g.32049108G>T	ENSP00000271064:p.Glu172*					TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Nonsense_Mutation_p.E141*	p.E172*	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	5	590	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	172					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Nonsense_Mutation	SNP	ENST00000271064.7	37	c.514G>T	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	38	7.234259	0.98154	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	.	.	.	4.4	4.4	0.53042	.	0.268954	0.36778	N	0.002413	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2899	0.82742	0.0:0.0:1.0:0.0	.	.	.	.	X	141;172;160	.	.	E	+	1	0	TINAGL1	31821695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.615000	0.83006	2.459000	0.83118	0.460000	0.39030	GAG		0.577	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		10	24	1	0	0.361761	1	0.361761	10	24				
ZNF423	23090	broad.mit.edu	37	16	49764794	49764794	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:49764794A>G	ENST00000561648.1	-	3	218	c.165T>C	c.(163-165)aaT>aaC	p.N55N	ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.N55N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	55					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CATCATCCTCATTTCTCTCCT	0.547																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(163-165)aaT>aaC		zinc finger protein 423							430.0	349.0	377.0					16																	49764794		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49764794A>G	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.165T>C	16.37:g.49764794A>G						ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.N55N|ZNF423_ENST00000562520.1_5'UTR	p.N55N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			3	218	-		all_cancers(37;0.0155)	55					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.165T>C	CCDS32445.1																																																																																				0.547	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		45	171	0	0	0	1	0	45	171				
NEK11	79858	broad.mit.edu	37	3	130947448	130947448	+	Silent	SNP	G	G	A	rs145914506		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:130947448G>A	ENST00000510769.1	+	11	1414	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	NEK11_ENST00000383366.4_Silent_p.E492E|NEK11_ENST00000510688.1_Silent_p.E492E|NEK11_ENST00000429253.2_Silent_p.E492E|NEK11_ENST00000412440.2_Silent_p.E308E|NEK11_ENST00000508196.1_Silent_p.E492E					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAGTGATGAGGAGGAAGAAG	0.433																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1474-1476)gaG>gaA		NIMA-related kinase 11							130.0	120.0	124.0					3																	130947448		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130947448G>A	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1161G>A	3.37:g.130947448G>A						NEK11_ENST00000412440.2_Silent_p.E308E|NEK11_ENST00000510688.1_Silent_p.E492E|NEK11_ENST00000508196.1_Silent_p.E492E|NEK11_ENST00000429253.2_Silent_p.E492E|NEK11_ENST00000510769.1_Silent_p.E387E	p.E492E	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			15	1769	+			492		E -> K (in a colorectal adenocarcinoma sample; somatic mutation).				Silent	SNP	ENST00000510769.1	37	c.1476G>A																																																																																					0.433	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		17	314	0	0	0	1	0	17	314				
TCHH	7062	broad.mit.edu	37	1	152080828	152080828	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:152080828C>A	ENST00000368804.1	-	2	4864	c.4865G>T	c.(4864-4866)cGc>cTc	p.R1622L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1622	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTCTTCGCGGAATTTTCT	0.602																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4864-4866)cGc>cTc		trichohyalin							70.0	70.0	70.0					1																	152080828		1922	4138	6060	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080828C>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4865G>T	1.37:g.152080828C>A	ENSP00000357794:p.Arg1622Leu						p.R1622L	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4864	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1622			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4865G>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346138	0.24426	.	.	ENSG00000159450	ENST00000368804	T	0.07216	3.21	4.27	0.261	0.15592	.	.	.	.	.	T	0.03263	0.0095	M	0.72118	2.19	0.09310	N	1	P	0.43431	0.807	B	0.41174	0.349	T	0.37934	-0.9684	9	0.26408	T	0.33	.	4.7595	0.13100	0.1499:0.5883:0.0:0.2617	.	1622	Q07283	TRHY_HUMAN	L	1622	ENSP00000357794:R1622L	ENSP00000357794:R1622L	R	-	2	0	TCHH	150347452	0.000000	0.05858	0.005000	0.12908	0.189000	0.23516	-0.417000	0.07088	-0.109000	0.12044	-0.363000	0.07495	CGC		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		30	130	1	0	3.1745e-13	1	4.00858e-13	30	130				
CLEC14A	161198	broad.mit.edu	37	14	38723900	38723900	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:38723900A>G	ENST00000342213.2	-	1	1674	c.1328T>C	c.(1327-1329)cTg>cCg	p.L443P		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	443						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ATCACTCTCCAGGCCCGGCGG	0.572																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1327-1329)cTg>cCg		C-type lectin domain family 14, member A							48.0	51.0	50.0					14																	38723900		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38723900A>G		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1328T>C	14.37:g.38723900A>G	ENSP00000353013:p.Leu443Pro						p.L443P	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1674	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		443					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1328T>C	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937658	0.34189	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75589	-0.95	4.86	-2.38	0.06622	.	1.047530	0.07593	N	0.922405	T	0.48995	0.1531	N	0.14661	0.345	0.09310	N	1	P	0.39624	0.681	B	0.35607	0.206	T	0.47249	-0.9132	10	0.72032	D	0.01	-0.3069	0.1456	0.00088	0.3543:0.158:0.1811:0.3065	.	443	Q86T13	CLC14_HUMAN	P	443;208	ENSP00000353013:L443P	ENSP00000353013:L443P	L	-	2	0	CLEC14A	37793651	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.721000	0.25911	-0.156000	0.11079	-1.287000	0.01368	CTG		0.572	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		14	64	0	0	0	1	0	14	64				
MB21D2	151963	broad.mit.edu	37	3	192516321	192516321	+	Missense_Mutation	SNP	C	C	T	rs61729336	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:192516321C>T	ENST00000392452.2	-	2	1650	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	444							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GGGTCCCCTCCGTCAGACTGT	0.562													C|||	4	0.000798722	0.0	0.0	5008	,	,		17652	0.0		0.0	False		,,,				2504	0.0041					ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(1330-1332)Gga>Aga		Mab-21 domain containing 2		C	ARG/GLY	0,4406		0,0,2203	93.0	96.0	95.0		1330	5.3	1.0	3	dbSNP_129	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MB21D2	NM_178496.3	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	444/492	192516321	2,13004	2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516321C>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1330G>A	3.37:g.192516321C>T	ENSP00000376246:p.Gly444Arg						p.G444R	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	1650	-			444					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.1330G>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392132	0.25118	0.0	2.33E-4	ENSG00000180611	ENST00000392452	T	0.43688	0.94	5.27	5.27	0.74061	.	0.400204	0.27851	N	0.017586	T	0.30198	0.0757	N	0.14661	0.345	0.47659	D	0.999489	B	0.12013	0.005	B	0.01281	0.0	T	0.05037	-1.0910	10	0.41790	T	0.15	-0.913	17.908	0.88925	0.0:1.0:0.0:0.0	.	444	Q8IYB1	M21D2_HUMAN	R	444	ENSP00000376246:G444R	ENSP00000376246:G444R	G	-	1	0	MB21D2	193999015	1.000000	0.71417	0.974000	0.42286	0.777000	0.43975	4.642000	0.61383	2.450000	0.82876	0.650000	0.86243	GGA		0.562	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		7	222	0	0	0	1	0	7	222				
PKHD1L1	93035	broad.mit.edu	37	8	110451247	110451247	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:110451247C>G	ENST00000378402.5	+	32	3986	c.3882C>G	c.(3880-3882)tgC>tgG	p.C1294W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1294	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATATTAGATGCCTTTTGCCCA	0.388										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3880-3882)tgC>tgG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							134.0	130.0	131.0					8																	110451247		1836	4085	5921	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451247C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3882C>G	8.37:g.110451247C>G	ENSP00000367655:p.Cys1294Trp	HNSCC(38;0.096)					p.C1294W	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	3986	+			1294			IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3882C>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163169	0.57476	.	.	ENSG00000205038	ENST00000378402	D	0.83250	-1.7	6.07	3.01	0.34805	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	M	0.88704	2.975	0.49582	D	0.9998	D	0.76494	0.999	D	0.75484	0.986	D	0.89985	0.4103	10	0.87932	D	0	.	8.1838	0.31326	0.0:0.6968:0.0:0.3032	.	1294	Q86WI1	PKHL1_HUMAN	W	1294	ENSP00000367655:C1294W	ENSP00000367655:C1294W	C	+	3	2	PKHD1L1	110520423	0.992000	0.36948	1.000000	0.80357	0.969000	0.65631	0.560000	0.23500	0.914000	0.36822	-0.137000	0.14449	TGC		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		21	200	0	0	0	1	0	21	200				
IGHV4-39	28394	broad.mit.edu	37	14	106877641	106877641	+	RNA	SNP	G	G	T	rs374569005		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:106877641G>T	ENST00000390619.2	-	0	402									immunoglobulin heavy variable 4-39																		ATACACAGCCGTGTCTGCGGC	0.582																																						ENST00000390619.2																			0																				152.0	129.0	136.0					14																	106877641		1919	4129	6048			28394							g.chr14:106877641G>T	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877641G>T														0	402	-									RNA	SNP	ENST00000390619.2	37																																																																																						0.582	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		6	317	1	0	0.00198382	1	0.00205399	6	317				
TRBV5-5	28610	broad.mit.edu	37	7	142149044	142149044	+	RNA	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:142149044C>T	ENST00000390372.3	-	0	233									T cell receptor beta variable 5-5																		GAAGTTTCCTCTTCCTCTCTC	0.512																																						ENST00000390372.3																			0																				94.0	92.0	92.0					7																	142149044		1869	4102	5971			28610							g.chr7:142149044C>T	L36092		7q34	2012-02-07			ENSG00000211725	ENSG00000211725		"""T cell receptors / TRB locus"""	12222	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV55, TCRBV5S3A2T, TCRBV5S5			OTTHUMG00000158512		7.37:g.142149044C>T														0	233	-									RNA	SNP	ENST00000390372.3	37																																																																																						0.512	TRBV5-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351218.2	NG_001333		34	100	0	0	0	1	0	34	100				
LRRK1	79705	broad.mit.edu	37	15	101528987	101528987	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:101528987G>A	ENST00000388948.3	+	5	941	c.582G>A	c.(580-582)gtG>gtA	p.V194V	LRRK1_ENST00000532029.2_Silent_p.V194V|LRRK1_ENST00000284395.5_Silent_p.V191V	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGTCATCGTGCGCTTGCCCC	0.612																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(571-573)gtG>gtA		leucine-rich repeat kinase 1							52.0	55.0	54.0					15																	101528987		2078	4196	6274	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528987G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.582G>A	15.37:g.101528987G>A						LRRK1_ENST00000532029.2_Silent_p.V194V|LRRK1_ENST00000388948.3_Silent_p.V194V	p.V191V			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	973	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		194						Silent	SNP	ENST00000388948.3	37	c.573G>A	CCDS42086.1																																																																																				0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		12	31	0	0	0	1	0	12	31				
CHN2	1124	broad.mit.edu	37	7	29519927	29519927	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:29519927A>G	ENST00000222792.6	+	7	1139	c.609A>G	c.(607-609)acA>acG	p.T203T	CHN2_ENST00000539406.1_Silent_p.T278T|CHN2_ENST00000409041.4_Silent_p.T67T|CHN2_ENST00000495789.2_Silent_p.T216T|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Silent_p.T188T|CHN2_ENST00000539389.1_Silent_p.T59T|CHN2_ENST00000421775.2_Silent_p.T67T|CHN2_ENST00000439711.2_Silent_p.T67T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	203					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CTGCCCTCACACACAACGACA	0.502																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(607-609)acA>acG		chimerin 2							226.0	171.0	190.0					7																	29519927		2203	4300	6503	SO:0001819	synonymous_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29519927A>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.609A>G	7.37:g.29519927A>G						CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Silent_p.T67T|CHN2_ENST00000546235.1_Silent_p.T188T|CHN2_ENST00000539389.1_Silent_p.T59T|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000539406.1_Silent_p.T278T|CHN2_ENST00000409041.4_Silent_p.T67T|CHN2_ENST00000439711.2_Silent_p.T67T|CHN2_ENST00000495789.2_Silent_p.T216T	p.T203T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			7	1139	+			203					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	c.609A>G	CCDS5420.1																																																																																				0.502	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		9	53	0	0	0	1	0	9	53				
TBC1D4	9882	broad.mit.edu	37	13	75930320	75930320	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:75930320T>A	ENST00000377636.3	-	4	1584	c.1238A>T	c.(1237-1239)tAt>tTt	p.Y413F	TBC1D4_ENST00000377625.2_Missense_Mutation_p.Y413F|TBC1D4_ENST00000431480.2_Missense_Mutation_p.Y413F|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	413	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATAACAAATATACTGGCTAAG	0.463																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1237-1239)tAt>tTt		TBC1 domain family, member 4							65.0	63.0	63.0					13																	75930320		1944	4146	6090	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75930320T>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1238A>T	13.37:g.75930320T>A	ENSP00000366863:p.Tyr413Phe					TBC1D4_ENST00000377625.2_Missense_Mutation_p.Y413F|TBC1D4_ENST00000431480.2_Missense_Mutation_p.Y413F|TBC1D4_ENST00000425511.1_5'UTR	p.Y413F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	4	1584	-		Prostate(6;0.014)|Breast(118;0.0982)	413			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1238A>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979292	0.34942	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.11277	2.79;2.79;2.79	6.07	4.88	0.63580	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000012	T	0.12433	0.0302	N	0.21545	0.675	0.80722	D	1	B;P;P	0.50617	0.106;0.804;0.937	B;P;P	0.56563	0.086;0.481;0.801	T	0.04320	-1.0960	10	0.02654	T	1	-17.0777	12.6945	0.56994	0.1236:0.0:0.0:0.8764	.	413;413;413	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	F	413	ENSP00000366863:Y413F;ENSP00000395986:Y413F;ENSP00000366852:Y413F	ENSP00000366852:Y413F	Y	-	2	0	TBC1D4	74828321	1.000000	0.71417	0.994000	0.49952	0.930000	0.56654	5.005000	0.63972	1.089000	0.41292	0.533000	0.62120	TAT		0.463	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		10	42	0	0	0	1	0	10	42				
MGAM	8972	broad.mit.edu	37	7	141736654	141736654	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:141736654C>T	ENST00000549489.2	+	18	2203	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	MGAM_ENST00000475668.2_Missense_Mutation_p.S703F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	703	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGCTGACTCCCTGCTGTTG	0.532																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2107-2109)tCc>tTc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						163.0	171.0	169.0					7																	141736654		2150	4250	6400	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736654C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2108C>T	7.37:g.141736654C>T	ENSP00000447378:p.Ser703Phe					MGAM_ENST00000549489.2_Missense_Mutation_p.S703F	p.S703F			O43451	MGA_HUMAN			18	2162	+	Melanoma(164;0.0272)		703			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2108C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231235	0.58777	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89875	-2.58	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000059	D	0.95956	0.8683	M	0.93507	3.425	0.50313	D	0.999866	D	0.89917	1.0	D	0.81914	0.995	D	0.95133	0.8257	10	0.35671	T	0.21	.	18.8472	0.92212	0.0:1.0:0.0:0.0	.	703	O43451	MGA_HUMAN	F	703;703;580	ENSP00000447378:S703F	ENSP00000316431:S580F	S	+	2	0	MGAM	141383123	1.000000	0.71417	0.123000	0.21794	0.140000	0.21249	7.818000	0.86416	2.763000	0.94921	0.650000	0.86243	TCC		0.532	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			44	148	0	0	0	1	0	44	148				
ADCY9	115	broad.mit.edu	37	16	4043454	4043454	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:4043454C>T	ENST00000294016.3	-	4	2480	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	648					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAGGTGCTCCTCCCTCGGCG	0.547																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1942-1944)Gga>Aga		adenylate cyclase 9							192.0	170.0	177.0					16																	4043454		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4043454C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1942G>A	16.37:g.4043454C>T	ENSP00000294016:p.Gly648Arg					ADCY9_ENST00000571889.1_5'UTR	p.G648R	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			4	2480	-			648					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1942G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678210	0.68042	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.36	4.41	0.53225	.	0.229892	0.35525	N	0.003159	T	0.75925	0.3916	L	0.36672	1.1	0.40920	D	0.984307	P	0.45902	0.868	B	0.42319	0.383	T	0.77963	-0.2390	10	0.46703	T	0.11	.	11.766	0.51930	0.0:0.9192:0.0:0.0808	.	648	O60503	ADCY9_HUMAN	R	648	ENSP00000294016:G648R	ENSP00000294016:G648R	G	-	1	0	ADCY9	3983455	1.000000	0.71417	0.910000	0.35882	0.580000	0.36256	4.765000	0.62271	2.514000	0.84764	0.544000	0.68410	GGA		0.547	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			34	114	0	0	0	1	0	34	114				
CHIA	27159	broad.mit.edu	37	1	111862902	111862902	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:111862902C>A	ENST00000369740.1	+	12	1348	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	CHIA_ENST00000483391.1_Missense_Mutation_p.S254R|CHIA_ENST00000430615.1_Missense_Mutation_p.S307R|CHIA_ENST00000353665.6_Missense_Mutation_p.S254R|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.S415R|CHIA_ENST00000451398.2_Missense_Mutation_p.S254R	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	415	Poly-Ser.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGAACGGGAGCGGGAGTAGCA	0.582																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(1243-1245)agC>agA		chitinase, acidic							59.0	57.0	57.0					1																	111862902		2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111862902C>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1245C>A	1.37:g.111862902C>A	ENSP00000358755:p.Ser415Arg					CHIA_ENST00000451398.2_Missense_Mutation_p.S254R|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.S254R|CHIA_ENST00000430615.1_Missense_Mutation_p.S307R|CHIA_ENST00000343320.6_Missense_Mutation_p.S415R|CHIA_ENST00000483391.1_Missense_Mutation_p.S254R	p.S415R	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	12	1348	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	415			Poly-Ser.		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.1245C>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	9.346	1.064155	0.20067	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.05649	4.12;3.77;3.41;3.41;3.77;3.77;3.68;3.97	4.38	-6.79	0.01715	.	5.622380	0.01781	U	0.031726	T	0.01800	0.0057	L	0.29908	0.895	0.09310	N	1	P	0.45569	0.861	B	0.41135	0.348	T	0.18935	-1.0321	10	0.27785	T	0.31	-2.7663	13.1644	0.59562	0.0:0.4019:0.0:0.5981	.	415	Q9BZP6	CHIA_HUMAN	R	359;254;415;415;254;254;254;307	ENSP00000387671:S359R;ENSP00000436946:S254R;ENSP00000358755:S415R;ENSP00000341828:S415R;ENSP00000390476:S254R;ENSP00000338970:S254R;ENSP00000433309:S254R;ENSP00000391132:S307R	ENSP00000341828:S415R	S	+	3	2	CHIA	111664425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-1.330000	0.02255	-0.726000	0.03593	AGC		0.582	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			21	43	1	0	4.35082e-09	1	5.113e-09	21	43				
LILRB5	10990	broad.mit.edu	37	19	54758782	54758782	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:54758782C>T	ENST00000316219.5	-	6	1178	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	LILRB5_ENST00000449561.2_Silent_p.K357K|LILRB5_ENST00000450632.1_Silent_p.K348K|LILRB5_ENST00000345866.6_Silent_p.K257K	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	357	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCCCCTCCTTGGTCAAAA	0.572																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1042-1044)aaG>aaA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							59.0	59.0	59.0					19																	54758782		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758782C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1071G>A	19.37:g.54758782C>T						LILRB5_ENST00000345866.6_Silent_p.K257K|LILRB5_ENST00000316219.5_Silent_p.K357K|LILRB5_ENST00000449561.2_Silent_p.K357K	p.K348K			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1121	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		357			Ig-like C2-type 4.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1044G>A	CCDS12885.1																																																																																				0.572	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			14	56	0	0	0	1	0	14	56				
PPP1R9A	55607	broad.mit.edu	37	7	94539773	94539773	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:94539773G>T	ENST00000433881.1	+	2	880	c.348G>T	c.(346-348)ttG>ttT	p.L116F	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L116F|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L116F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.L116F			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	116	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGTTAAGTTGGAGTCTTCTG	0.408										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(346-348)ttG>ttT		protein phosphatase 1, regulatory subunit 9A							99.0	96.0	97.0					7																	94539773		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539773G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.348G>T	7.37:g.94539773G>T	ENSP00000398870:p.Leu116Phe	HNSCC(28;0.073)				PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L116F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L116F	p.L116F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	564	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		116			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.348G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356144	0.41700	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.66	3.82	0.43975	.	0.229124	0.33161	N	0.005211	D	0.95111	0.8416	M	0.64170	1.965	0.35747	D	0.819109	D;D;D;P;P	0.89917	0.999;1.0;1.0;0.89;0.89	D;D;D;P;B	0.91635	0.981;0.999;0.999;0.503;0.354	D	0.95452	0.8535	9	.	.	.	.	9.8485	0.41041	0.0694:0.2641:0.6664:0.0	.	116;116;116;116;116	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	F	116	ENSP00000405514:L116F;ENSP00000344524:L116F;ENSP00000411342:L116F;ENSP00000398870:L116F;ENSP00000289495:L116F;ENSP00000402893:L116F	.	L	+	3	2	PPP1R9A	94377709	1.000000	0.71417	0.991000	0.47740	0.789000	0.44602	0.718000	0.25866	0.839000	0.34971	0.591000	0.81541	TTG		0.408	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		22	84	1	0	5.26018e-13	1	6.61632e-13	22	84				
MEP1A	4224	broad.mit.edu	37	6	46800886	46800886	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:46800886G>A	ENST00000230588.4	+	11	1229	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	407	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTTTTCCAGGGCACAAAAGGC	0.512																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1219-1221)gGc>gAc		meprin A, alpha (PABA peptide hydrolase)							73.0	75.0	74.0					6																	46800886		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46800886G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1220G>A	6.37:g.46800886G>A	ENSP00000230588:p.Gly407Asp						p.G407D	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1229	+			407			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1220G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128479	0.77549	.	.	ENSG00000112818	ENST00000230588	T	0.02916	4.11	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.045999	0.85682	D	0.000000	T	0.19208	0.0461	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.15607	-1.0431	10	0.87932	D	0	-26.1174	19.5623	0.95376	0.0:0.0:1.0:0.0	.	435;407	B7ZL91;Q16819	.;MEP1A_HUMAN	D	407	ENSP00000230588:G407D	ENSP00000230588:G407D	G	+	2	0	MEP1A	46908845	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.587000	0.60991	2.619000	0.88677	0.650000	0.86243	GGC		0.512	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		5	147	0	0	0	1	0	5	147				
GABRB3	2562	broad.mit.edu	37	15	26806094	26806094	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:26806094C>T	ENST00000311550.5	-	8	1176	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	GABRB3_ENST00000541819.2_Silent_p.K411K|GABRB3_ENST00000545868.1_Silent_p.K270K|GABRB3_ENST00000400188.3_Silent_p.K284K|GABRB3_ENST00000299267.4_Silent_p.K355K	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	355					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTTCGCTCTTTGAACGGT	0.473																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1231-1233)aaG>aaA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						247.0	266.0	259.0					15																	26806094		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806094C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1065G>A	15.37:g.26806094C>T						GABRB3_ENST00000400188.3_Silent_p.K284K|GABRB3_ENST00000311550.5_Silent_p.K355K|GABRB3_ENST00000299267.4_Silent_p.K355K|GABRB3_ENST00000545868.1_Silent_p.K270K	p.K411K			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1335	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	355					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.1233G>A	CCDS10019.1																																																																																				0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			42	139	0	0	0	1	0	42	139				
MORC1	27136	broad.mit.edu	37	3	108812287	108812287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:108812287C>T	ENST00000483760.1	-	8	728	c.685G>A	c.(685-687)Gag>Aag	p.E229K	MORC1_ENST00000232603.5_Missense_Mutation_p.E229K					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACATACTCCTCCAGAGCTCCA	0.433																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(685-687)Gag>Aag		MORC family CW-type zinc finger 1							155.0	136.0	142.0					3																	108812287		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108812287C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.685G>A	3.37:g.108812287C>T	ENSP00000417282:p.Glu229Lys					MORC1_ENST00000483760.1_Missense_Mutation_p.E229K	p.E229K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			8	767	-			229						Missense_Mutation	SNP	ENST00000483760.1	37	c.685G>A		.	.	.	.	.	.	.	.	.	.	C	10.19	1.282522	0.23392	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06218	3.33;3.33	4.75	4.75	0.60458	ATPase-like, ATP-binding domain (1);	0.297247	0.24400	N	0.038855	T	0.05914	0.0154	N	0.21545	0.675	0.33221	D	0.554721	P;B	0.46395	0.877;0.029	P;B	0.45829	0.494;0.017	T	0.30650	-0.9971	10	0.16420	T	0.52	.	11.0663	0.47976	0.0:0.8127:0.1873:0.0	.	229;229	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	229	ENSP00000232603:E229K;ENSP00000417282:E229K	ENSP00000232603:E229K	E	-	1	0	MORC1	110294977	1.000000	0.71417	0.998000	0.56505	0.091000	0.18340	3.641000	0.54360	2.475000	0.83589	0.650000	0.86243	GAG		0.433	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			13	89	0	0	0	1	0	13	89				
CPA5	93979	broad.mit.edu	37	7	129989825	129989825	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:129989825T>C	ENST00000485477.1	+	4	1337	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R	CPA5_ENST00000474905.1_Missense_Mutation_p.W70R|CPA5_ENST00000466363.2_Missense_Mutation_p.W70R|CPA5_ENST00000431780.2_Missense_Mutation_p.W70R|CPA5_ENST00000461828.1_Missense_Mutation_p.W70R|CPA5_ENST00000355388.3_Missense_Mutation_p.W70R|CPA5_ENST00000393213.3_Missense_Mutation_p.W70R			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	70						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGTGGACTTCTGGCGTGGCCC	0.502																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(208-210)Tgg>Cgg		carboxypeptidase A5							127.0	132.0	130.0					7																	129989825		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129989825T>C	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.208T>C	7.37:g.129989825T>C	ENSP00000420237:p.Trp70Arg					CPA5_ENST00000474905.1_Missense_Mutation_p.W70R|CPA5_ENST00000466363.2_Missense_Mutation_p.W70R|CPA5_ENST00000461828.1_Missense_Mutation_p.W70R|CPA5_ENST00000431780.2_Missense_Mutation_p.W70R|CPA5_ENST00000393213.3_Missense_Mutation_p.W70R|CPA5_ENST00000355388.3_Missense_Mutation_p.W70R	p.W70R			Q8WXQ8	CBPA5_HUMAN			4	1337	+	Melanoma(18;0.0435)		70					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.208T>C	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.853204	0.71719	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.76	5.76	0.90799	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.136396	0.35349	N	0.003274	T	0.69342	0.3100	H	0.94183	3.505	0.39998	D	0.975133	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78932	-0.2009	9	.	.	.	.	12.4834	0.55856	0.0:0.0:0.0:1.0	.	70;70	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	R	70	ENSP00000347549:W70R;ENSP00000420060:W70R;ENSP00000418183:W70R;ENSP00000419025:W70R;ENSP00000420237:W70R;ENSP00000393045:W70R;ENSP00000417314:W70R;ENSP00000376907:W70R	.	W	+	1	0	CPA5	129777061	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.502000	0.60400	2.186000	0.69663	0.533000	0.62120	TGG		0.502	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		38	121	0	0	0	1	0	38	121				
OR51B4	79339	broad.mit.edu	37	11	5322799	5322799	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:5322799T>C	ENST00000380224.1	-	1	427	c.378A>G	c.(376-378)ccA>ccG	p.P126P	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	126					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACCTCAGTGGTGTGCGGA	0.443																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(376-378)ccA>ccG		olfactory receptor, family 51, subfamily B, member 4							183.0	172.0	175.0					11																	5322799		2201	4297	6498	SO:0001819	synonymous_variant	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322799T>C	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.378A>G	11.37:g.5322799T>C						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.P126P	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	427	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	126					A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	c.378A>G	CCDS7757.1																																																																																				0.443	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		20	78	0	0	0	1	0	20	78				
MICAL2	9645	broad.mit.edu	37	11	12281413	12281413	+	Silent	SNP	C	C	A	rs144667365		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:12281413C>A	ENST00000256194.4	+	26	3591	c.3303C>A	c.(3301-3303)gcC>gcA	p.A1101A	MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000379612.3_Silent_p.A875A|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000527546.1_Silent_p.A911A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3301-3303)gcC>gcA		microtubule associated monooxygenase, calponin and LIM domain containing 2							45.0	45.0	45.0					11																	12281413		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12281413C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3303C>A	11.37:g.12281413C>A						MICAL2_ENST00000379612.3_Silent_p.A875A|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000527546.1_Silent_p.A911A	p.A1101A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	26	3591	+			1101					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.3303C>A	CCDS7809.1																																																																																				0.592	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		8	34	1	0	0.000274275	1	0.000288616	8	34				
TFCP2	7024	broad.mit.edu	37	12	51566130	51566130	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:51566130G>T	ENST00000257915.5	-	1	534	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	TFCP2_ENST00000549867.1_Missense_Mutation_p.L26M|TFCP2_ENST00000548115.1_Missense_Mutation_p.L26M|TFCP2_ENST00000307660.4_Missense_Mutation_p.L26M	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	26					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATCCCGGACAGGCTAGCATCA	0.567																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(76-78)Ctg>Atg		transcription factor CP2							132.0	126.0	128.0					12																	51566130		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51566130G>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.76C>A	12.37:g.51566130G>T	ENSP00000257915:p.Leu26Met					TFCP2_ENST00000257915.5_Missense_Mutation_p.L26M|TFCP2_ENST00000548115.1_Missense_Mutation_p.L26M|TFCP2_ENST00000549867.1_Missense_Mutation_p.L26M	p.L26M	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			1	796	-			26					A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.76C>A	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921721	0.73213	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.59638	1.63;0.25;1.62;0.26	5.17	5.17	0.71159	.	0.270367	0.30109	N	0.010398	T	0.64349	0.2590	L	0.32530	0.975	0.48185	D	0.999604	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.83275	0.996;0.988;0.994;0.992	T	0.64428	-0.6410	10	0.54805	T	0.06	-8.9481	11.0675	0.47985	0.0853:0.0:0.9147:0.0	.	26;26;26;26	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	M	26	ENSP00000257915:L26M;ENSP00000304411:L26M;ENSP00000449742:L26M;ENSP00000447991:L26M	ENSP00000257915:L26M	L	-	1	2	TFCP2	49852397	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.800000	0.75165	2.683000	0.91414	0.655000	0.94253	CTG		0.567	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		43	120	1	0	1.22674e-20	1	1.70264e-20	43	120				
FMOD	2331	broad.mit.edu	37	1	203317209	203317209	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:203317209T>A	ENST00000354955.4	-	2	653	c.190A>T	c.(190-192)Acc>Tcc	p.T64S	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	64					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGCCGTAGGTGTAGGCTGGC	0.612																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(190-192)Acc>Tcc		fibromodulin							55.0	52.0	53.0					1																	203317209		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203317209T>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.190A>T	1.37:g.203317209T>A	ENSP00000347041:p.Thr64Ser					FMOD_ENST00000464898.1_5'UTR	p.T64S	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	653	-			64					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.190A>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	T	0.097	-1.158393	0.01686	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.53640	0.61	5.53	2.28	0.28536	.	0.506494	0.18696	N	0.133724	T	0.23846	0.0577	N	0.19112	0.55	0.23943	N	0.996398	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.09590	T	0.72	-12.7863	3.7601	0.08601	0.1509:0.5169:0.2432:0.089	.	64	Q06828	FMOD_HUMAN	S	64	ENSP00000347041:T64S	ENSP00000347041:T64S	T	-	1	0	FMOD	201583832	0.496000	0.26059	0.996000	0.52242	0.031000	0.12232	0.753000	0.26376	0.650000	0.30769	-0.313000	0.08912	ACC		0.612	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		14	49	0	0	0	1	0	14	49				
DGKG	1608	broad.mit.edu	37	3	185970889	185970889	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:185970889C>G	ENST00000265022.3	-	18	2132	c.1593G>C	c.(1591-1593)tgG>tgC	p.W531C	DGKG_ENST00000344484.4_Missense_Mutation_p.W506C|DGKG_ENST00000544847.1_Missense_Mutation_p.W472C|DGKG_ENST00000382164.4_Missense_Mutation_p.W492C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	531	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACCTCCTCCCCAGCGGAGAC	0.517																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1591-1593)tgG>tgC		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						161.0	122.0	135.0					3																	185970889		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185970889C>G	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1593G>C	3.37:g.185970889C>G	ENSP00000265022:p.Trp531Cys					DGKG_ENST00000344484.4_Missense_Mutation_p.W506C|DGKG_ENST00000544847.1_Missense_Mutation_p.W472C|DGKG_ENST00000382164.4_Missense_Mutation_p.W492C	p.W531C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	18	2132	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		531			DAGKc.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1593G>C	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229456	0.79688	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.97	4.97	0.65823	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74740	-0.3563	10	0.87932	D	0	.	17.5152	0.87771	0.0:1.0:0.0:0.0	.	472;506;492;531	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	C	531;506;492;472;495	ENSP00000265022:W531C;ENSP00000339777:W506C;ENSP00000371599:W492C;ENSP00000440507:W472C	ENSP00000265022:W531C	W	-	3	0	DGKG	187453583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.742000	0.94016	0.655000	0.94253	TGG		0.517	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			5	209	0	0	0	1	0	5	209				
VDR	7421	broad.mit.edu	37	12	48238538	48238538	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:48238538C>A	ENST00000395324.2	-	10	1543	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	VDR_ENST00000549336.1_Missense_Mutation_p.E425D|VDR_ENST00000535672.1_Missense_Mutation_p.E393D|VDR_ENST00000550325.1_Missense_Mutation_p.E475D|VDR_ENST00000229022.3_Missense_Mutation_p.E425D			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	425	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCAGGAGATCTCATTGCCAA	0.637																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(1273-1275)gaG>gaT		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						80.0	69.0	73.0					12																	48238538		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238538C>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1275G>T	12.37:g.48238538C>A	ENSP00000378734:p.Glu425Asp					VDR_ENST00000549336.1_Missense_Mutation_p.E425D|VDR_ENST00000395324.2_Missense_Mutation_p.E425D|VDR_ENST00000550325.1_Missense_Mutation_p.E475D|VDR_ENST00000535672.1_Missense_Mutation_p.E393D	p.E425D	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1556	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	425			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.1275G>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	c	12.70	2.016890	0.35606	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.93811	-3.26;-3.26;-3.26;-3.29;-3.21	4.26	4.26	0.50523	.	0.000000	0.52532	U	0.000062	D	0.86314	0.5903	L	0.28274	0.84	0.51482	D	0.999926	B;B;B	0.24043	0.008;0.034;0.096	B;B;B	0.24006	0.015;0.015;0.05	T	0.80708	-0.1262	10	0.19147	T	0.46	.	9.5659	0.39398	0.0:0.9011:0.0:0.0989	.	393;425;475	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	D	425;425;425;475;393	ENSP00000378734:E425D;ENSP00000229022:E425D;ENSP00000449573:E425D;ENSP00000447173:E475D;ENSP00000442145:E393D	ENSP00000229022:E425D	E	-	3	2	VDR	46524805	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	0.828000	0.27435	2.380000	0.81148	0.457000	0.33378	GAG		0.637	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			17	60	1	0	1.67942e-08	1	1.94522e-08	17	60				
IGHV3-30	28439	broad.mit.edu	37	14	106791181	106791181	+	RNA	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:106791181C>A	ENST00000390613.2	-	0	254									immunoglobulin heavy variable 3-30																		TTGCCTGGAGCCTGGCGGACC	0.562																																						ENST00000390613.2																			0																				99.0	166.0	144.0					14																	106791181		1963	4170	6133			28439							g.chr14:106791181C>A	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791181C>A														0	254	-									RNA	SNP	ENST00000390613.2	37																																																																																						0.562	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		32	482	1	0	1.26612e-14	1	1.62426e-14	32	482				
ZNF804B	219578	broad.mit.edu	37	7	88963711	88963711	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:88963711C>G	ENST00000333190.4	+	4	2024	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	472							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTGTATCTCTTATGGCTGC	0.428										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1414-1416)tCt>tGt		zinc finger protein 804B							62.0	60.0	60.0					7																	88963711		2203	4298	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963711C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1415C>G	7.37:g.88963711C>G	ENSP00000329638:p.Ser472Cys	HNSCC(36;0.09)					p.S472C	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2024	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		472					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1415C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371366	0.82573	.	.	ENSG00000182348	ENST00000333190	T	0.17691	2.26	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000004	T	0.47728	0.1461	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46938	-0.9155	10	0.87932	D	0	-16.1467	19.5755	0.95441	0.0:1.0:0.0:0.0	.	472	A4D1E1	Z804B_HUMAN	C	472	ENSP00000329638:S472C	ENSP00000329638:S472C	S	+	2	0	ZNF804B	88801647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.865000	0.98341	0.655000	0.94253	TCT		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		13	77	0	0	0	1	0	13	77				
UTRN	7402	broad.mit.edu	37	6	144758722	144758722	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:144758722G>C	ENST00000367545.3	+	10	1081	c.1081G>C	c.(1081-1083)Gca>Cca	p.A361P		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	361	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAACTGACTGCACACCAGAG	0.428																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1081-1083)Gca>Cca		utrophin							72.0	69.0	70.0					6																	144758722		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144758722G>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1081G>C	6.37:g.144758722G>C	ENSP00000356515:p.Ala361Pro						p.A361P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	10	1081	+		Ovarian(120;0.218)	361			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1081G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192011	0.78902	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.56275	0.47	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000144	T	0.65873	0.2733	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67722	-0.5597	10	0.66056	D	0.02	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	361	P46939	UTRO_HUMAN	P	361	ENSP00000356515:A361P	ENSP00000356499:A361P	A	+	1	0	UTRN	144800415	1.000000	0.71417	0.457000	0.27056	0.992000	0.81027	5.527000	0.67123	2.562000	0.86427	0.655000	0.94253	GCA		0.428	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			16	74	0	0	0	1	0	16	74				
ABCB1	5243	broad.mit.edu	37	7	87133567	87133567	+	Missense_Mutation	SNP	G	G	T	rs137996914	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:87133567G>T	ENST00000265724.3	-	29	4252	c.3835C>A	c.(3835-3837)Cgc>Agc	p.R1279S	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1215S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1279					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTTCACTGGCGCTTTGTTCCA	0.388																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3835-3837)Cgc>Agc		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						122.0	113.0	116.0					7																	87133567		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87133567G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3835C>A	7.37:g.87133567G>T	ENSP00000265724:p.Arg1279Ser					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1215S	p.R1279S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			29	4252	-	Esophageal squamous(14;0.00164)		1279					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3835C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094439	0.76870	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.87256	-2.22;-2.23	5.95	5.95	0.96441	.	0.000000	0.39020	N	0.001496	T	0.76637	0.4015	N	0.14661	0.345	0.34539	D	0.710084	P;P	0.44139	0.551;0.827	B;B	0.39805	0.123;0.31	T	0.81951	-0.0698	10	0.34782	T	0.22	-2.3005	12.2941	0.54836	0.0772:0.0:0.9228:0.0	.	1215;1279	B5AK60;P08183	.;MDR1_HUMAN	S	1060;1279;1215	ENSP00000265724:R1279S;ENSP00000444095:R1215S	ENSP00000265724:R1279S	R	-	1	0	ABCB1	86971503	0.732000	0.28121	0.983000	0.44433	0.983000	0.72400	2.177000	0.42509	2.824000	0.97209	0.655000	0.94253	CGC		0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		25	88	1	0	2.98393e-07	1	3.37132e-07	25	88				
NBPF1	55672	broad.mit.edu	37	1	16895572	16895572	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:16895572T>A	ENST00000430580.2	-	23	3497	c.2610A>T	c.(2608-2610)atA>atT	p.I870I	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	870	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTCACCGCCTATGTCAACAG	0.493																																						ENST00000430580.2																			0											c.(2608-2610)atA>atT		neuroblastoma breakpoint family, member 1							435.0	402.0	413.0					1																	16895572		2203	4297	6500	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16895572T>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2610A>T	1.37:g.16895572T>A						NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	p.I870I	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3497	-			870			NBPF 4.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2610A>T																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		122	1753	0	0	0	1	0	122	1753				
CFAP53	220136	broad.mit.edu	37	18	47769417	47769417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:47769417G>A	ENST00000398545.4	-	6	1183	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTTCTCCTGAGCTTTTTCT	0.368																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1066-1068)Cag>Tag		coiled-coil domain containing 11							163.0	161.0	162.0					18																	47769417		1925	4139	6064	SO:0001587	stop_gained	220136							g.chr18:47769417G>A																												ENST00000398545.4:c.1066C>T	18.37:g.47769417G>A	ENSP00000381553:p.Gln356*						p.Q356*	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	6	1183	-			356						Nonsense_Mutation	SNP	ENST00000398545.4	37	c.1066C>T	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	G	36	5.815115	0.96982	.	.	ENSG00000172361	ENST00000398545	.	.	.	5.57	5.57	0.84162	.	0.296003	0.31821	N	0.007009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-5.2531	17.0202	0.86431	0.0:0.0:1.0:0.0	.	.	.	.	X	356	.	ENSP00000381553:Q356X	Q	-	1	0	CCDC11	46023415	0.997000	0.39634	1.000000	0.80357	0.708000	0.40852	3.083000	0.50136	2.623000	0.88846	0.561000	0.74099	CAG		0.368	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			45	148	0	0	0	1	0	45	148				
FAM47C	442444	broad.mit.edu	37	X	37027835	37027835	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:37027835G>T	ENST00000358047.3	+	1	1404	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	451								p.R451P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.617																																						ENST00000358047.3																			2	Substitution - Missense(2)	p.R451P(2)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1351-1353)cGc>cTc		family with sequence similarity 47, member C							64.0	62.0	63.0					X																	37027835		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027835G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1352G>T	X.37:g.37027835G>T	ENSP00000367913:p.Arg451Leu						p.R451L	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1404	+			451					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1352G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.544683	0.00934	.	.	ENSG00000198173	ENST00000358047	T	0.20738	2.05	1.46	-2.93	0.05598	.	.	.	.	.	T	0.12902	0.0313	L	0.28192	0.835	0.09310	N	1	P	0.48589	0.912	P	0.45377	0.478	T	0.20638	-1.0269	9	0.25751	T	0.34	.	4.2486	0.10684	0.2229:0.53:0.2471:0.0	.	451	Q5HY64	FA47C_HUMAN	L	451	ENSP00000367913:R451L	ENSP00000367913:R451L	R	+	2	0	FAM47C	36937756	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.427000	0.02441	-0.353000	0.08224	-0.527000	0.04329	CGC		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		35	35	1	0	6.05902e-23	1	8.55704e-23	35	35				
CC2D1A	54862	broad.mit.edu	37	19	14024096	14024096	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:14024096G>C	ENST00000318003.7	+	5	735	c.494G>C	c.(493-495)cGc>cCc	p.R165P	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R165P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	165					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAGATGCGGCGCTACGATCGG	0.617																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(493-495)cGc>cCc		coiled-coil and C2 domain containing 1A							25.0	31.0	29.0					19																	14024096		1983	4151	6134	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024096G>C	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.494G>C	19.37:g.14024096G>C	ENSP00000313601:p.Arg165Pro					CC2D1A_ENST00000589606.1_Missense_Mutation_p.R165P	p.R165P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	735	+			165					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.494G>C	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355238	0.82243	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.29397	1.57	4.91	4.91	0.64330	Domain of unknown function DM14 (1);	0.059189	0.64402	D	0.000005	T	0.60907	0.2305	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66858	-0.5817	10	0.62326	D	0.03	-16.2755	17.0205	0.86432	0.0:0.0:1.0:0.0	.	165;165	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	P	165;3;140	ENSP00000313601:R165P	ENSP00000254346:R3P	R	+	2	0	CC2D1A	13885096	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.544000	0.82117	2.551000	0.86045	0.561000	0.74099	CGC		0.617	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		20	46	0	0	0	1	0	20	46				
TRHR	7201	broad.mit.edu	37	8	110100014	110100014	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:110100014G>T	ENST00000518632.1	+	2	624	c.273G>T	c.(271-273)tgG>tgT	p.W91C	TRHR_ENST00000311762.2_Missense_Mutation_p.W91C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	91					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACGGTTCCTGGGTCTATGGCT	0.493																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(271-273)tgG>tgT		thyrotropin-releasing hormone receptor							156.0	145.0	149.0					8																	110100014		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100014G>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.273G>T	8.37:g.110100014G>T	ENSP00000430711:p.Trp91Cys					TRHR_ENST00000311762.2_Missense_Mutation_p.W91C	p.W91C			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	624	+			91					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.273G>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727333	0.69074	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.77877	-1.13;-1.13	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96257	0.9188	10	0.87932	D	0	-22.3123	19.1516	0.93491	0.0:0.0:1.0:0.0	.	91	P34981	TRFR_HUMAN	C	91	ENSP00000430711:W91C;ENSP00000309818:W91C	ENSP00000309818:W91C	W	+	3	0	TRHR	110169190	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.860000	0.99555	2.773000	0.95371	0.655000	0.94253	TGG		0.493	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			52	292	1	0	1.86277e-20	1	2.5633e-20	52	292				
DOCK2	1794	broad.mit.edu	37	5	169506071	169506071	+	Missense_Mutation	SNP	G	G	T	rs371229305		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:169506071G>T	ENST00000256935.8	+	49	5167	c.5087G>T	c.(5086-5088)cGg>cTg	p.R1696L	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1188L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R757L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAAGCTGCGGAGGTCCAAG	0.572																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5086-5088)cGg>cTg		dedicator of cytokinesis 2							88.0	88.0	88.0					5																	169506071		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169506071G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5087G>T	5.37:g.169506071G>T	ENSP00000256935:p.Arg1696Leu					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R1188L|DOCK2_ENST00000540750.1_Missense_Mutation_p.R757L	p.R1696L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		49	5167	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1696					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5087G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902486	0.92035	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10099	3.62;3.23;2.91	4.72	4.72	0.59763	.	0.114391	0.56097	N	0.000024	T	0.17959	0.0431	N	0.17082	0.46	0.41169	D	0.986157	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.85130	0.995;0.997;0.987	T	0.21724	-1.0237	10	0.20046	T	0.44	.	16.8865	0.86077	0.0:0.0:1.0:0.0	.	1188;252;1696	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	L	1696;1188;757	ENSP00000256935:R1696L;ENSP00000429283:R1188L;ENSP00000438827:R757L	ENSP00000256935:R1696L	R	+	2	0	DOCK2	169438649	1.000000	0.71417	0.937000	0.37676	0.893000	0.52053	6.631000	0.74277	2.341000	0.79615	0.585000	0.79938	CGG		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		40	54	1	0	2.40579e-17	1	3.20109e-17	40	54				
TNKS1BP1	85456	broad.mit.edu	37	11	57087949	57087949	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:57087949C>A	ENST00000532437.1	-	2	643	c.332G>T	c.(331-333)gGa>gTa	p.G111V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G111V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	111					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGTGGCTTCTCCTCCAGTGGA	0.632																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(331-333)gGa>gTa		tankyrase 1 binding protein 1, 182kDa							37.0	45.0	42.0					11																	57087949		2199	4295	6494	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57087949C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.332G>T	11.37:g.57087949C>A	ENSP00000437271:p.Gly111Val					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G111V	p.G111V			Q9C0C2	TB182_HUMAN			2	643	-		all_epithelial(135;0.21)	111					A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.332G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346735	0.41599	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.32023	1.47;1.47	4.35	2.25	0.28309	.	0.000000	0.34802	N	0.003679	T	0.17280	0.0415	N	0.19112	0.55	0.23559	N	0.997413	P	0.46064	0.872	P	0.44394	0.448	T	0.06752	-1.0809	10	0.45353	T	0.12	-9.5652	1.6577	0.02785	0.2109:0.4467:0.205:0.1374	.	111	Q9C0C2	TB182_HUMAN	V	111	ENSP00000350990:G111V;ENSP00000437271:G111V	ENSP00000350990:G111V	G	-	2	0	TNKS1BP1	56844525	1.000000	0.71417	0.932000	0.37286	0.743000	0.42351	1.219000	0.32479	1.125000	0.41998	0.563000	0.77884	GGA		0.632	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		7	31	1	0	0.27861	1	0.279478	7	31				
OR2T8	343172	broad.mit.edu	37	1	248084585	248084585	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248084585C>T	ENST00000319968.4	+	1	266	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	89						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(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAAGTAAGGCCATCTCCCGC	0.577																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(265-267)gCc>gTc		olfactory receptor, family 2, subfamily T, member 8							27.0	24.0	25.0					1																	248084585		2146	4203	6349	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084585C>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.266C>T	1.37:g.248084585C>T	ENSP00000326225:p.Ala89Val						p.A89V	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	266	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	89						Missense_Mutation	SNP	ENST00000319968.4	37	c.266C>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047348	0.36085	.	.	ENSG00000177462	ENST00000319968	T	0.00561	6.59	3.81	-6.95	0.01628	GPCR, rhodopsin-like superfamily (1);	0.230196	0.22245	U	0.062632	T	0.00241	0.0007	N	0.10945	0.07	0.09310	N	1	B	0.32051	0.354	B	0.29353	0.101	T	0.48592	-0.9022	10	0.45353	T	0.12	.	6.2774	0.20989	0.1136:0.4265:0.0:0.4599	.	89	A6NH00	OR2T8_HUMAN	V	89	ENSP00000326225:A89V	ENSP00000326225:A89V	A	+	2	0	OR2T8	246151208	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.238000	0.02919	-1.192000	0.02691	-0.331000	0.08364	GCC		0.577	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		11	55	0	0	0	1	0	11	55				
SYNE1	23345	broad.mit.edu	37	6	152652078	152652078	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:152652078G>T	ENST00000367255.5	-	78	14343	c.13742C>A	c.(13741-13743)gCa>gAa	p.A4581E	SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510E|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510E|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328E|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4581					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAATATCTGCTTGTTTTAG	0.363										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13741-13743)gCa>gAa		spectrin repeat containing, nuclear envelope 1							155.0	161.0	159.0					6																	152652078		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652078G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13742C>A	6.37:g.152652078G>T	ENSP00000356224:p.Ala4581Glu	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328E|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510E|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581E|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510E	p.A4581E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14343	-		Ovarian(120;0.0955)	4581					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13742C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455357	0.63401	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55588	1.17;1.17;1.17;1.17;0.51	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000007	T	0.67543	0.2904	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;P;P;D	0.68621	0.959;0.903;0.903;0.955	T	0.63839	-0.6546	10	0.42905	T	0.14	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	4581;4581;4581;4510	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	4581;4510;4581;4510;4328	ENSP00000356224:A4581E;ENSP00000396024:A4510E;ENSP00000265368:A4581E;ENSP00000390975:A4510E;ENSP00000341887:A4328E	ENSP00000265368:A4581E	A	-	2	0	SYNE1	152693771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GCA		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		39	111	1	0	3.09479e-21	1	4.3327e-21	39	111				
TTBK2	146057	broad.mit.edu	37	15	43044498	43044498	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:43044498C>A	ENST00000267890.6	-	14	3054	c.2946G>T	c.(2944-2946)ctG>ctT	p.L982L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	982					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTTTTCCACCAGAAGCTTGA	0.443																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2944-2946)ctG>ctT		tau tubulin kinase 2							101.0	93.0	96.0					15																	43044498		1855	4106	5961	SO:0001819	synonymous_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044498C>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2946G>T	15.37:g.43044498C>A							p.L982L	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3054	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	982					O94932|Q6ZN52|Q8IVV1	Silent	SNP	ENST00000267890.6	37	c.2946G>T	CCDS42029.1																																																																																				0.443	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		39	115	1	0	9.62906e-15	1	1.24022e-14	39	115				
NLRP2	55655	broad.mit.edu	37	19	55495054	55495054	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:55495054C>T	ENST00000543010.1	+	6	2131	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAATCTCCCGGAGAATGTC	0.493																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1987-1989)cCg>cTg		NLR family, pyrin domain containing 2							59.0	55.0	56.0					19																	55495054		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55495054C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1988C>T	19.37:g.55495054C>T	ENSP00000445135:p.Pro663Leu					NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L	p.P663L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2131	+			663					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1988C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.819475	0.00595	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.73469	-0.7;-0.64;-0.64;-0.7;-0.64;-0.75;-0.64;-0.7	1.94	0.902	0.19290	.	.	.	.	.	T	0.44519	0.1297	N	0.03016	-0.435	0.24743	N	0.99303	B;B;B;B;B	0.19200	0.02;0.034;0.02;0.034;0.02	B;B;B;B;B	0.17098	0.007;0.017;0.005;0.011;0.005	T	0.29150	-1.0021	9	0.28530	T	0.3	.	3.3387	0.07110	0.0:0.2365:0.0:0.7635	.	640;641;660;639;663	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	L	663;639;641;663;641;640;639;660	ENSP00000445135:P663L;ENSP00000375601:P639L;ENSP00000344074:P641L;ENSP00000409370:P663L;ENSP00000440601:P641L;ENSP00000402474:P640L;ENSP00000441133:P639L;ENSP00000263437:P660L	ENSP00000263437:P660L	P	+	2	0	NLRP2	60186866	0.000000	0.05858	0.127000	0.21898	0.004000	0.04260	-0.306000	0.08178	0.230000	0.21059	-0.367000	0.07326	CCG		0.493	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		14	79	0	0	0	1	0	14	79				
SULF2	55959	broad.mit.edu	37	20	46292260	46292260	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:46292260T>C	ENST00000359930.4	-	16	3015	c.2164A>G	c.(2164-2166)Atg>Gtg	p.M722V	SULF2_ENST00000467815.1_Missense_Mutation_p.M722V|SULF2_ENST00000484875.1_Missense_Mutation_p.M722V|SULF2_ENST00000361612.4_Missense_Mutation_p.M722V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	722					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGGCCTGGCATGCTGCACGTG	0.617											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2164-2166)Atg>Gtg		sulfatase 2							138.0	125.0	129.0					20																	46292260		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46292260T>C	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2164A>G	20.37:g.46292260T>C	ENSP00000353007:p.Met722Val		OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_ENST00000467815.1_Missense_Mutation_p.M722V|SULF2_ENST00000361612.4_Missense_Mutation_p.M722V|SULF2_ENST00000484875.1_Missense_Mutation_p.M722V	p.M722V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			16	3015	-			722					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2164A>G	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.273045	0.40194	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	5.94	5.94	0.96194	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	L	0.45051	1.395	0.43054	D	0.99466	D;D	0.63046	0.992;0.975	D;D	0.66602	0.945;0.942	D	0.98758	1.0723	10	0.25751	T	0.34	-27.9805	16.3979	0.83621	0.0:0.0:0.0:1.0	.	722;722	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	V	722;722;722;141;722	ENSP00000353007:M722V;ENSP00000418290:M722V;ENSP00000354662:M722V;ENSP00000418442:M722V	ENSP00000353007:M722V	M	-	1	0	SULF2	45725667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.570000	0.45981	2.279000	0.76181	0.459000	0.35465	ATG		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		79	135	0	0	0	1	0	79	135				
SLITRK3	22865	broad.mit.edu	37	3	164905727	164905727	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:164905727C>A	ENST00000475390.1	-	2	3335	c.2892G>T	c.(2890-2892)ccG>ccT	p.P964P	SLITRK3_ENST00000241274.3_Silent_p.P964P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	964					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P964P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGAGGTAATCCGGCTTGGTTT	0.393										HNSCC(40;0.11)																												ENST00000475390.1																			2	Substitution - coding silent(2)	p.P964P(2)	large_intestine(1)|lung(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2890-2892)ccG>ccT		SLIT and NTRK-like family, member 3							150.0	148.0	149.0					3																	164905727		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905727C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2892G>T	3.37:g.164905727C>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.P964P	p.P964P			O94933	SLIK3_HUMAN			2	3335	-			964					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2892G>T	CCDS3197.1																																																																																				0.393	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		130	150	1	0	6.63188e-95	1	9.84085e-95	130	150				
LRRTM4	80059	broad.mit.edu	37	2	77745754	77745754	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:77745754T>A	ENST00000409093.1	-	3	1577	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	LRRTM4_ENST00000409282.1_Missense_Mutation_p.E415V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E414V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E415V|LRRTM4_ENST00000409088.3_Missense_Mutation_p.E414V			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	414					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATACTCTTGCTCTGCGCCAGG	0.483																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1240-1242)gAg>gTg		leucine rich repeat transmembrane neuronal 4							107.0	105.0	106.0					2																	77745754		1910	4129	6039	SO:0001583	missense	80059					integral to membrane		g.chr2:77745754T>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1241A>T	2.37:g.77745754T>A	ENSP00000386357:p.Glu414Val					LRRTM4_ENST00000409093.1_Missense_Mutation_p.E414V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E415V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E414V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E415V	p.E414V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1655	-			414					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1241A>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904755	0.33628	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.68	5.68	0.88126	.	0.496399	0.21896	N	0.067505	T	0.70954	0.3283	L	0.57536	1.79	0.46044	D	0.99883	B;B;B	0.32693	0.124;0.196;0.38	B;B;B	0.33121	0.076;0.158;0.05	T	0.68127	-0.5491	10	0.26408	T	0.33	.	14.7537	0.69546	0.0:0.0:0.0:1.0	.	415;414;414	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	V	415;414;414;414;415	ENSP00000387228:E415V;ENSP00000387297:E414V;ENSP00000386357:E414V;ENSP00000386236:E414V;ENSP00000386286:E415V	ENSP00000386236:E414V	E	-	2	0	LRRTM4	77599262	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.010000	0.57117	2.156000	0.67533	0.533000	0.62120	GAG		0.483	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	41	0	0	0	1	0	4	41				
TRAF3	7187	broad.mit.edu	37	14	103336783	103336783	+	Splice_Site	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:103336783G>T	ENST00000560371.1	+	2	462	c.245G>T	c.(244-246)aGc>aTc	p.S82I	TRAF3_ENST00000392745.2_Splice_Site_p.S82I|TRAF3_ENST00000539721.1_Splice_Site_p.S82I|TRAF3_ENST00000347662.4_Splice_Site_p.S82I|TRAF3_ENST00000351691.5_Splice_Site_p.S82I	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	82					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GCCCTGCTGAGGTAGGCGCCC	0.607																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.e2+1		TNF receptor-associated factor 3							41.0	37.0	39.0					14																	103336783		2203	4299	6502	SO:0001630	splice_region_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103336783G>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.245+1G>T	14.37:g.103336783G>T						TRAF3_ENST00000351691.5_Splice_Site_p.S82_splice|TRAF3_ENST00000539721.1_Splice_Site_p.S82_splice|TRAF3_ENST00000392745.2_Splice_Site_p.S82_splice|TRAF3_ENST00000347662.4_Splice_Site_p.S82_splice	p.S82_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	2	462	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	82					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Splice_Site	SNP	ENST00000560371.1	37	c.245_splice	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900875	0.52227	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.43	5.43	0.79202	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.080796	0.85682	D	0.000000	T	0.74382	0.3709	L	0.39633	1.23	0.80722	D	1	B;B;B	0.31949	0.348;0.009;0.015	B;B;B	0.34418	0.182;0.012;0.014	T	0.74858	-0.3521	10	0.62326	D	0.03	-22.0324	19.2474	0.93908	0.0:0.0:1.0:0.0	.	82;82;82	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	I	82	ENSP00000376500:S82I;ENSP00000328003:S82I;ENSP00000332468:S82I;ENSP00000445998:S82I	ENSP00000328003:S82I	S	+	2	0	TRAF3	102406536	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	8.828000	0.92047	2.544000	0.85801	0.650000	0.86243	AGC		0.607	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	Missense_Mutation	5	22	1	0	3.59834e-05	1	3.92768e-05	5	22				
GRM1	2911	broad.mit.edu	37	6	146755275	146755275	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:146755275G>T	ENST00000282753.1	+	8	3163	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.M976I|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	976					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCCCTTCCATGGTGGTGCACA	0.642																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2926-2928)atG>atT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						79.0	83.0	81.0					6																	146755275		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755275G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2928G>T	6.37:g.146755275G>T	ENSP00000282753:p.Met976Ile					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.M976I|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	p.M976I	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3398	+		Ovarian(120;0.0387)	976					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2928G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349694	0.41599	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87334	-2.24;-2.24	5.09	5.09	0.68999	.	0.434461	0.28647	N	0.014614	T	0.67496	0.2899	N	0.24115	0.695	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.68930	-0.5279	10	0.52906	T	0.07	.	8.0356	0.30491	0.0805:0.0:0.7605:0.159	.	976	Q13255	GRM1_HUMAN	I	976	ENSP00000354896:M976I;ENSP00000282753:M976I	ENSP00000282753:M976I	M	+	3	0	GRM1	146796968	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.109000	0.64615	2.367000	0.80283	0.462000	0.41574	ATG		0.642	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		49	141	1	0	1.56793e-16	1	2.06915e-16	49	141				
TJP1	7082	broad.mit.edu	37	15	30054611	30054611	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:30054611A>G	ENST00000346128.6	-	6	1094	c.620T>C	c.(619-621)tTt>tCt	p.F207S	TJP1_ENST00000545208.2_Missense_Mutation_p.F207S|TJP1_ENST00000400011.2_Missense_Mutation_p.F211S|TJP1_ENST00000356107.6_Missense_Mutation_p.F207S|TJP1_ENST00000495972.2_Missense_Mutation_p.F207S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	207	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTCCTTAACAAATATATGGCT	0.299																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(619-621)tTt>tCt		tight junction protein 1							128.0	115.0	119.0					15																	30054611		1826	4089	5915	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30054611A>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.620T>C	15.37:g.30054611A>G	ENSP00000281537:p.Phe207Ser					TJP1_ENST00000545208.2_Missense_Mutation_p.F207S|TJP1_ENST00000400011.2_Missense_Mutation_p.F211S|TJP1_ENST00000356107.6_Missense_Mutation_p.F207S|TJP1_ENST00000495972.2_Missense_Mutation_p.F207S	p.F207S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	6	1094	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	207			PDZ 2.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.620T>C	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.888786	0.91814	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.82	5.82	0.92795	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.85777	2.775	0.80722	D	1	D;B;D;D	0.89917	1.0;0.15;0.993;1.0	D;B;D;D	0.91635	0.999;0.144;0.969;0.997	T	0.65911	-0.6053	9	.	.	.	.	16.1757	0.81847	1.0:0.0:0.0:0.0	.	200;207;207;211	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	S	207;211;207;207;207	ENSP00000281537:F207S;ENSP00000382890:F211S;ENSP00000441202:F207S;ENSP00000348416:F207S	.	F	-	2	0	TJP1	27841903	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.229000	0.78088	2.231000	0.72958	0.459000	0.35465	TTT		0.299	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		12	63	0	0	0	1	0	12	63				
WDR31	114987	broad.mit.edu	37	9	116082637	116082637	+	Splice_Site	SNP	C	C	A	rs148709910		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:116082637C>A	ENST00000374193.4	-	9	1026	c.780G>T	c.(778-780)acG>acT	p.T260T	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Splice_Site_p.T259T|WDR31_ENST00000374195.3_Splice_Site_p.T135T	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	260								p.T260T(1)		NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTCTCCTACCGTGGCTTCAC	0.517																																						ENST00000374193.4																			1	Substitution - coding silent(1)	p.T260T(1)	lung(1)	NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.e9+1		WD repeat domain 31							112.0	99.0	104.0					9																	116082637		2203	4300	6503	SO:0001630	splice_region_variant	114987							g.chr9:116082637C>A	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.780+1G>T	9.37:g.116082637C>A						WDR31_ENST00000341761.4_Splice_Site_p.T259_splice|WDR31_ENST00000374195.3_Splice_Site_p.T135_splice|WDR31_ENST00000461942.1_5'UTR	p.T260_splice	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			9	1026	-			260					Q5W0T9|Q96EG8	Splice_Site	SNP	ENST00000374193.4	37	c.780_splice	CCDS35110.1																																																																																				0.517	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241	Silent	20	111	1	0	1.22574e-08	1	1.42486e-08	20	111				
DPPA5	340168	broad.mit.edu	37	6	74063660	74063660	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:74063660C>T	ENST00000370370.3	-	2	277	c.208G>A	c.(208-210)Gtt>Att	p.V70I		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	70	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						GAGCCGTAAACCACGACCTCG	0.597																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(208-210)Gtt>Att		developmental pluripotency associated 5							55.0	51.0	52.0					6																	74063660		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063660C>T		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.208G>A	6.37:g.74063660C>T	ENSP00000359396:p.Val70Ile						p.V70I	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			2	277	-			70			KH; atypical.		B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.208G>A	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	2.860	-0.236292	0.05944	.	.	ENSG00000203909	ENST00000370370	T	0.32515	1.45	3.74	1.01	0.19927	K Homology (1);	0.479537	0.17741	N	0.163566	T	0.12603	0.0306	L	0.35487	1.065	0.09310	N	1	D	0.53151	0.958	P	0.54889	0.763	T	0.12400	-1.0549	10	0.15499	T	0.54	.	5.6903	0.17825	0.0:0.6496:0.0:0.3504	.	70	A6NC42	DPPA5_HUMAN	I	70	ENSP00000359396:V70I	ENSP00000359396:V70I	V	-	1	0	DPPA5	74120381	0.580000	0.26733	0.007000	0.13788	0.015000	0.08874	0.031000	0.13710	0.209000	0.20645	-0.333000	0.08304	GTT		0.597	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		18	79	0	0	0	1	0	18	79				
ZNF37A	7587	broad.mit.edu	37	10	38404180	38404180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:38404180G>A	ENST00000361085.5	+	6	545	c.200G>A	c.(199-201)tGg>tAg	p.W67*	ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.W67*|ZNF37A_ENST00000479469.1_3'UTR	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAGGAGCCATGGATATTAGAG	0.418																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(199-201)tGg>tAg		zinc finger protein 37A							74.0	68.0	70.0					10																	38404180		2203	4300	6503	SO:0001587	stop_gained	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38404180G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.200G>A	10.37:g.38404180G>A	ENSP00000354377:p.Trp67*					ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000361085.4_Nonsense_Mutation_p.W67*	p.W67*	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			7	1030	+			67			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Nonsense_Mutation	SNP	ENST00000361085.5	37	c.200G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059241	0.93846	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	.	.	.	2.56	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.223	0.31552	0.0:0.0:0.7604:0.2396	.	.	.	.	X	67	.	ENSP00000329141:W67X	W	+	2	0	ZNF37A	38444186	0.403000	0.25319	0.996000	0.52242	0.966000	0.64601	1.326000	0.33735	0.368000	0.24481	0.467000	0.42956	TGG		0.418	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		10	41	0	0	0	1	0	10	41				
GRIK2	2898	broad.mit.edu	37	6	102130441	102130441	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:102130441G>T	ENST00000421544.1	+	5	1227	c.737G>T	c.(736-738)gGa>gTa	p.G246V	GRIK2_ENST00000358361.3_Missense_Mutation_p.G246V|GRIK2_ENST00000369138.1_Missense_Mutation_p.G246V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G246V|GRIK2_ENST00000413795.1_Missense_Mutation_p.G246V|GRIK2_ENST00000369134.4_Missense_Mutation_p.G197V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G246V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	246					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTAGCTATGGGAATGATGACA	0.284																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(736-738)gGa>gTa		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						52.0	59.0	56.0					6																	102130441		2190	4262	6452	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102130441G>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.737G>T	6.37:g.102130441G>T	ENSP00000397026:p.Gly246Val					GRIK2_ENST00000413795.1_Missense_Mutation_p.G246V|GRIK2_ENST00000358361.3_Missense_Mutation_p.G246V|GRIK2_ENST00000421544.1_Missense_Mutation_p.G246V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G246V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G246V|GRIK2_ENST00000369134.4_Missense_Mutation_p.G197V	p.G246V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	5	1227	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	246					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.737G>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877491	0.91664	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	6.03	6.03	0.97812	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.89095	3.005	0.80722	D	1	D;D;D	0.56521	0.97;0.976;0.97	P;P;P	0.58266	0.829;0.836;0.829	T	0.66204	-0.5982	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	246;246;246	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	246;246;246;246;246;246;246;197;208;17	ENSP00000397026:G246V;ENSP00000405596:G246V;ENSP00000358134:G246V;ENSP00000351128:G246V;ENSP00000358133:G246V;ENSP00000313276:G246V;ENSP00000358130:G197V;ENSP00000391988:G17V	ENSP00000313276:G246V	G	+	2	0	GRIK2	102237134	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.474000	0.97718	2.861000	0.98227	0.655000	0.94253	GGA		0.284	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			21	93	1	0	2.21704e-12	1	2.767e-12	21	93				
TP53	7157	broad.mit.edu	37	17	7579372	7579372	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:7579372G>A	ENST00000269305.4	-	4	504	c.315C>T	c.(313-315)ggC>ggT	p.G105G	TP53_ENST00000445888.2_Silent_p.G105G|TP53_ENST00000455263.2_Silent_p.G105G|TP53_ENST00000413465.2_Silent_p.G105G|TP53_ENST00000359597.4_Silent_p.G105G|TP53_ENST00000420246.2_Silent_p.G105G|TP53_ENST00000574684.1_5'Flank	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	AACCGTAGCTGCCCTGGTAGG	0.617		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"""		24	Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(2)|Substitution - coding silent(1)	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	bone(4)|upper_aerodigestive_tract(3)|ovary(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|lung(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(313-315)ggC>ggT	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	55.0					17																	7579372		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:7579372G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.315C>T	17.37:g.7579372G>A		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_ENST00000359597.4_Silent_p.G105G|TP53_ENST00000445888.2_Silent_p.G105G|TP53_ENST00000269305.4_Silent_p.G105G|TP53_ENST00000455263.2_Silent_p.G105G|TP53_ENST00000413465.2_Silent_p.G105G	p.G105G	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)	4	447	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	105		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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	Silent	SNP	ENST00000269305.4	37	c.315C>T	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	77	0	0	0	1	0	17	77				
ENAM	10117	broad.mit.edu	37	4	71508287	71508287	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:71508287G>C	ENST00000396073.3	+	9	1425	c.1144G>C	c.(1144-1146)Gct>Cct	p.A382P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	382					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTATCACAAAGCTTACCCTCC	0.433																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1144-1146)Gct>Cct		enamelin							117.0	123.0	121.0					4																	71508287		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508287G>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1144G>C	4.37:g.71508287G>C	ENSP00000379383:p.Ala382Pro					ENAM_ENST00000472903.1_Intron	p.A382P	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1425	+			382					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1144G>C	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100868	0.06967	.	.	ENSG00000132464	ENST00000396073	T	0.34072	1.38	5.93	-0.634	0.11516	.	0.853997	0.10352	N	0.684994	T	0.22166	0.0534	L	0.38175	1.15	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.29458	-1.0011	10	0.18276	T	0.48	-0.0327	3.8944	0.09133	0.0856:0.432:0.2342:0.2482	.	382	Q9NRM1	ENAM_HUMAN	P	382	ENSP00000379383:A382P	ENSP00000379383:A382P	A	+	1	0	ENAM	71727151	0.021000	0.18746	0.001000	0.08648	0.009000	0.06853	0.840000	0.27600	-0.160000	0.11002	0.655000	0.94253	GCT		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		45	145	0	0	0	1	0	45	145				
CDC20B	166979	broad.mit.edu	37	5	54420831	54420831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:54420831G>C	ENST00000381375.2	-	9	1160	c.1015C>G	c.(1015-1017)Cat>Gat	p.H339D	CDC20B_ENST00000296733.1_Missense_Mutation_p.H339D|CDC20B_ENST00000322374.6_Missense_Mutation_p.H339D|CDC20B_ENST00000334206.5_Missense_Mutation_p.I367M			Q86Y33	CD20B_HUMAN	cell division cycle 20B	339										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ACATCGTGATGATAAACACGC	0.468																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1099-1101)atC>atG		cell division cycle 20B							103.0	90.0	95.0					5																	54420831		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54420831G>C	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1015C>G	5.37:g.54420831G>C	ENSP00000370781:p.His339Asp					CDC20B_ENST00000296733.1_Missense_Mutation_p.H339D|CDC20B_ENST00000381375.2_Missense_Mutation_p.H339D|CDC20B_ENST00000322374.6_Missense_Mutation_p.H339D	p.I367M			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		10	1277	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	0					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1101C>G	CCDS54852.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.233543|3.233543	0.58886|0.58886	.|.	.|.	ENSG00000164287|ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374|ENST00000334206	T;T;T|T	0.28666|0.13420	1.6;1.6;1.6|2.59	4.66|4.66	4.66|4.66	0.58398|0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.43919|.	D|.	0.000509|.	T|T	0.39886|0.39886	0.1095|0.1095	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D;D;D|D	0.76494|0.71674	0.999;0.993;0.993|0.998	D;P;P|D	0.68192|0.66847	0.956;0.796;0.857|0.947	T|T	0.41963|0.41963	-0.9479|-0.9479	10|9	0.87932|0.87932	D|D	0|0	-35.0672|-35.0672	17.3439|17.3439	0.87305|0.87305	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	339;339;339|367	Q86Y33-3;Q86Y33;Q86Y33-2|Q86Y33-4	.;CD20B_HUMAN;.|.	D|M	339|367	ENSP00000296733:H339D;ENSP00000370781:H339D;ENSP00000315720:H339D|ENSP00000335664:I367M	ENSP00000296733:H339D|ENSP00000335664:I367M	H|I	-|-	1|3	0|3	CDC20B|CDC20B	54456588|54456588	1.000000|1.000000	0.71417|0.71417	0.591000|0.591000	0.28745|0.28745	0.540000|0.540000	0.34992|0.34992	7.667000|7.667000	0.83888|0.83888	2.402000|2.402000	0.81655|0.81655	0.650000|0.650000	0.86243|0.86243	CAT|ATC		0.468	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		12	117	0	0	0	1	0	12	117				
PDE3A	5139	broad.mit.edu	37	12	20766439	20766439	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:20766439C>A	ENST00000359062.3	+	3	1114	c.1074C>A	c.(1072-1074)acC>acA	p.T358T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	358				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). {ECO:0000305}.	blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCTCATTACCGACCTCCTGG	0.542																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1072-1074)acC>acA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						106.0	95.0	98.0					12																	20766439		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766439C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1074C>A	12.37:g.20766439C>A						PDE3A_ENST00000544307.1_3'UTR	p.T358T	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			3	1114	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	358	HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).				O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1074C>A	CCDS31754.1																																																																																				0.542	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			20	83	1	0	0.000132079	1	0.000142239	20	83				
SESTD1	91404	broad.mit.edu	37	2	179997067	179997067	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:179997067T>C	ENST00000428443.3	-	10	1252	c.936A>G	c.(934-936)ctA>ctG	p.L312L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	312							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTTTCTGCTGTAGGGCCTGGG	0.473																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(934-936)ctA>ctG		SEC14 and spectrin domains 1							216.0	230.0	225.0					2																	179997067		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179997067T>C	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.936A>G	2.37:g.179997067T>C							p.L312L	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		10	1252	-			312					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.936A>G	CCDS33338.1																																																																																				0.473	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		88	304	0	0	0	1	0	88	304				
FRAS1	80144	broad.mit.edu	37	4	79393380	79393380	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:79393380A>T	ENST00000264895.6	+	52	7858	c.7418A>T	c.(7417-7419)gAc>gTc	p.D2473V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2473					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGACCCAGACACCGAGGAC	0.507																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(7417-7419)gAc>gTc		Fraser syndrome 1							63.0	65.0	65.0					4																	79393380		2001	4167	6168	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79393380A>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7418A>T	4.37:g.79393380A>T	ENSP00000264895:p.Asp2473Val						p.D2473V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			52	7858	+			2472					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7418A>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.58|16.58	3.163048|3.163048	0.57476|0.57476	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.67698|.	-0.28|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.105878|.	0.64402|.	D|.	0.000007|.	D|D	0.84047|0.84047	0.5386|0.5386	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	D|D	0.87838|0.87838	0.2649|0.2649	10|5	0.87932|.	D|.	0|.	.|.	15.0452|15.0452	0.71822|0.71822	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2473|.	E9PHH6|.	.|.	V|S	2473|701	ENSP00000264895:D2473V|.	ENSP00000264895:D2473V|.	D|R	+|+	2|3	0|2	FRAS1|FRAS1	79612404|79612404	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.129000|0.129000	0.20672|0.20672	9.006000|9.006000	0.93592|0.93592	2.122000|2.122000	0.65172|0.65172	0.533000|0.533000	0.62120|0.62120	GAC|AGA		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	63	0	0	0	1	0	15	63				
STAG1	10274	broad.mit.edu	37	3	136240236	136240236	+	Silent	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:136240236G>C	ENST00000383202.2	-	7	751	c.495C>G	c.(493-495)acC>acG	p.T165T	STAG1_ENST00000236698.5_Silent_p.T165T|STAG1_ENST00000480733.1_Silent_p.T165T|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	165					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTCCAGGCATGGTAAGAGGAT	0.333																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(493-495)acC>acG		stromal antigen 1							67.0	69.0	69.0					3																	136240236		2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136240236G>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.495C>G	3.37:g.136240236G>C						STAG1_ENST00000480733.1_Silent_p.T165T|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Silent_p.T165T	p.T165T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			7	751	-			165					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.495C>G	CCDS3090.1																																																																																				0.333	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		9	129	0	0	0	1	0	9	129				
MYF6	4618	broad.mit.edu	37	12	81101646	81101646	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:81101646C>A	ENST00000228641.3	+	1	370	c.148C>A	c.(148-150)Ccg>Acg	p.P50T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	50					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCAAATGCCCCCGGAAGCGGG	0.612																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(148-150)Ccg>Acg		myogenic factor 6 (herculin)							58.0	63.0	61.0					12																	81101646		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101646C>A		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.148C>A	12.37:g.81101646C>A	ENSP00000228641:p.Pro50Thr						p.P50T	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	370	+			50					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.148C>A	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	7.801	0.713607	0.15306	.	.	ENSG00000111046	ENST00000228641	T	0.79749	-1.3	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.331663	0.36854	N	0.002380	T	0.57198	0.2037	N	0.02011	-0.69	0.28240	N	0.92573	B	0.18610	0.029	B	0.18561	0.022	T	0.42599	-0.9442	10	0.14656	T	0.56	.	14.5377	0.67973	0.0:0.7322:0.2678:0.0	.	50	P23409	MYF6_HUMAN	T	50	ENSP00000228641:P50T	ENSP00000228641:P50T	P	+	1	0	MYF6	79625777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.636000	0.46545	2.662000	0.90505	0.655000	0.94253	CCG		0.612	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		19	66	1	0	1.01871e-10	1	1.24724e-10	19	66				
ANLN	54443	broad.mit.edu	37	7	36447556	36447556	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:36447556A>G	ENST00000265748.2	+	5	1308	c.1087A>G	c.(1087-1089)Acg>Gcg	p.T363A	ANLN_ENST00000396068.2_Missense_Mutation_p.T363A|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	363	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGACAAATCTACGACACCAGG	0.323																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1087-1089)Acg>Gcg		anillin, actin binding protein							45.0	44.0	45.0					7																	36447556		2202	4300	6502	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36447556A>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1087A>G	7.37:g.36447556A>G	ENSP00000265748:p.Thr363Ala					ANLN_ENST00000396068.2_Missense_Mutation_p.T363A|ANLN_ENST00000495714.1_3'UTR	p.T363A	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			5	1308	+			363			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1087A>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	5.828	0.337018	0.11013	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.10860	2.83;2.85	5.36	-1.19	0.09585	.	0.629307	0.18120	N	0.151074	T	0.02929	0.0087	N	0.01576	-0.805	0.25349	N	0.988888	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.46247	-0.9205	10	0.11485	T	0.65	-1.5139	9.4429	0.38679	0.6062:0.0:0.3938:0.0	.	240;363;363;363	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	A	363	ENSP00000265748:T363A;ENSP00000379380:T363A	ENSP00000265748:T363A	T	+	1	0	ANLN	36414081	0.999000	0.42202	0.990000	0.47175	0.953000	0.61014	0.651000	0.24873	-0.261000	0.09405	0.482000	0.46254	ACG		0.323	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		14	46	0	0	0	1	0	14	46				
RIT2	6014	broad.mit.edu	37	18	40503582	40503582	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:40503582G>T	ENST00000326695.5	-	4	552	c.381C>A	c.(379-381)ccC>ccA	p.P127P	RIT2_ENST00000589109.1_Silent_p.P127P|RIT2_ENST00000282028.4_Silent_p.P127P|RIT2_ENST00000590910.1_Missense_Mutation_p.P148H	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	127					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGCACCAGGGGAATTTCAT	0.473																																						ENST00000590910.1																			0				endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(442-444)cCc>cAc		Ras-like without CAAX 2							197.0	199.0	198.0					18																	40503582		2203	4300	6503	SO:0001819	synonymous_variant	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503582G>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.381C>A	18.37:g.40503582G>T						RIT2_ENST00000282028.4_Silent_p.P127P|RIT2_ENST00000326695.5_Silent_p.P127P|RIT2_ENST00000589109.1_Silent_p.P127P	p.P148H			Q99578	RIT2_HUMAN			5	572	-			0					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.443C>A	CCDS11921.1																																																																																				0.473	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		80	217	1	0	3.37217e-29	1	4.86923e-29	80	217				
TOR1AIP1	26092	broad.mit.edu	37	1	179851798	179851798	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:179851798G>A	ENST00000606911.2	+	1	352	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	RP11-533E19.7_ENST00000610272.1_lincRNA|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R54Q|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.R54Q|TOR1AIP1_ENST00000435319.4_5'Flank			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	54					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CGCCAGGGCCGGCGGGAAGTG	0.677																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(160-162)cGg>cAg		torsin A interacting protein 1							23.0	28.0	26.0					1																	179851798		2202	4299	6501	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179851798G>A		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.161G>A	1.37:g.179851798G>A	ENSP00000476687:p.Arg54Gln					TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R54Q	p.R54Q	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			1	352	+			54					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.161G>A	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218297	0.95104	.	.	ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	T;T;T	0.35605	1.3;1.35;1.35	5.18	5.18	0.71444	.	0.000000	0.47852	D	0.000216	T	0.48960	0.1529	L	0.34521	1.04	0.37279	D	0.907735	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.56171	-0.8023	10	0.87932	D	0	-17.0218	14.5439	0.68015	0.0:0.0:1.0:0.0	.	54;54	Q5JTV8;E9PKD1	TOIP1_HUMAN;.	Q	54	ENSP00000435365:R54Q;ENSP00000271583:R54Q;ENSP00000393292:R54Q	ENSP00000271583:R54Q	R	+	2	0	TOR1AIP1	178118421	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	4.174000	0.58256	2.572000	0.86782	0.655000	0.94253	CGG		0.677	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		10	41	0	0	0	1	0	10	41				
DCHS2	54798	broad.mit.edu	37	4	155156860	155156860	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:155156860A>T	ENST00000357232.4	-	25	7578	c.7579T>A	c.(7579-7581)Tct>Act	p.S2527T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2527	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTCCTTCAGAGGAGAAAGAC	0.408																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7579-7581)Tct>Act		dachsous cadherin-related 2							71.0	73.0	72.0					4																	155156860		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156860A>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7579T>A	4.37:g.155156860A>T	ENSP00000349768:p.Ser2527Thr						p.S2527T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7578	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2527			Cadherin 22.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7579T>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.440249	0.25900	.	.	ENSG00000197410	ENST00000357232	T	0.61040	0.14	5.53	-7.15	0.01521	Cadherin (2);	1.155840	0.06233	N	0.688941	T	0.41858	0.1177	L	0.53249	1.67	0.09310	N	1	B	0.34015	0.435	B	0.27262	0.078	T	0.30179	-0.9987	10	0.29301	T	0.29	.	6.3888	0.21576	0.127:0.1086:0.5583:0.2061	.	2527	Q6V1P9	PCD23_HUMAN	T	2527	ENSP00000349768:S2527T	ENSP00000349768:S2527T	S	-	1	0	DCHS2	155376310	0.553000	0.26513	0.000000	0.03702	0.604000	0.37047	0.503000	0.22610	-0.867000	0.04063	0.383000	0.25322	TCT		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		14	68	0	0	0	1	0	14	68				
ARHGAP27	201176	broad.mit.edu	37	17	43481428	43481428	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:43481428C>A	ENST00000428638.1	-	7	1513	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R164L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R483L|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R164L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R137L|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R283L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R478L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	505	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGTCTTGGTGCGATGGAGCAC	0.582																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(847-849)cGc>cTc		Rho GTPase activating protein 27							68.0	65.0	66.0					17																	43481428		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43481428C>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1514G>T	17.37:g.43481428C>A	ENSP00000403323:p.Arg505Leu					ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R478L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R164L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R137L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R505L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R483L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R164L	p.R283L			Q6ZUM4	RHG27_HUMAN			6	983	-	Renal(3;0.0405)		505					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.848G>T		.	.	.	.	.	.	.	.	.	.	C	13.27	2.185937	0.38609	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.45	4.47	0.54385	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.197918	0.44902	D	0.000412	D	0.84133	0.5405	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.72982	0.972;0.952;0.979	T	0.82975	-0.0190	10	0.33141	T	0.24	.	7.5013	0.27520	0.0:0.7453:0.1689:0.0858	.	283;478;505	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	L	283;164;137;483;505;478;164	ENSP00000432762:R283L;ENSP00000366121:R164L;ENSP00000431591:R137L;ENSP00000433942:R483L;ENSP00000403323:R505L;ENSP00000409330:R478L;ENSP00000408235:R164L	ENSP00000366121:R164L	R	-	2	0	ARHGAP27	40837211	1.000000	0.71417	0.991000	0.47740	0.008000	0.06430	2.937000	0.48979	1.519000	0.48950	-0.274000	0.10170	CGC		0.582	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		10	27	1	0	0.000673444	1	0.000701777	10	27				
SLIT2	9353	broad.mit.edu	37	4	20619089	20619089	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:20619089C>T	ENST00000504154.1	+	36	4416	c.4164C>T	c.(4162-4164)atC>atT	p.I1388I	SLIT2_ENST00000273739.5_Silent_p.I1401I|SLIT2_ENST00000503837.1_Silent_p.I1384I|SLIT2_ENST00000503823.1_Silent_p.I1380I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1388					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTTGCCCATCAATGCGTTCT	0.512																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(4162-4164)atC>atT		slit homolog 2 (Drosophila)							103.0	89.0	94.0					4																	20619089		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619089C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4164C>T	4.37:g.20619089C>T						SLIT2_ENST00000503823.1_Silent_p.I1380I|SLIT2_ENST00000273739.5_Silent_p.I1401I|SLIT2_ENST00000503837.1_Silent_p.I1384I	p.I1388I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			36	4416	+			1388					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.4164C>T	CCDS3426.1																																																																																				0.512	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			13	48	0	0	0	1	0	13	48				
CD86	942	broad.mit.edu	37	3	121825286	121825286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:121825286G>A	ENST00000330540.2	+	4	758	c.642G>A	c.(640-642)atG>atA	p.M214I	CD86_ENST00000469710.1_Missense_Mutation_p.M132I|CD86_ENST00000493101.1_Missense_Mutation_p.M102I|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.M208I	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	214	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.M214I(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CGAGCAATATGACCATCTTCT	0.393																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			1	Substitution - Missense(1)	p.M214I(1)	kidney(1)	breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(640-642)atG>atA		CD86 molecule	Abatacept(DB01281)						202.0	184.0	190.0					3																	121825286		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825286G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.642G>A	3.37:g.121825286G>A	ENSP00000332049:p.Met214Ile					CD86_ENST00000393627.2_Missense_Mutation_p.M208I|CD86_ENST00000493101.1_Missense_Mutation_p.M102I|CD86_ENST00000469710.1_Missense_Mutation_p.M132I|CD86_ENST00000264468.5_Intron	p.M214I	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	758	+			214			Ig-like C2-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.642G>A	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.689|8.689	0.906987|0.906987	0.17833|0.17833	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000478741|ENST00000469710;ENST00000493101;ENST00000330540;ENST00000393627	.|T;T;T;T	.|0.12984	.|2.69;2.63;2.69;2.69	5.65|5.65	-1.04|-1.04	0.10068|0.10068	.|.	.|1.570610	.|0.03359	.|N	.|0.197348	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.20685|0.20685	0.6|0.6	0.20821|0.20821	N|N	0.999845|0.999845	.|B;B	.|0.22541	.|0.038;0.071	.|B;B	.|0.18871	.|0.014;0.023	T|T	0.27640|0.27640	-1.0068|-1.0068	5|10	.|0.18710	.|T	.|0.47	-0.5257|-0.5257	0.5646|0.5646	0.00685|0.00685	0.2446:0.1316:0.328:0.2958|0.2446:0.1316:0.328:0.2958	.|.	.|102;214	.|E9PC27;P42081	.|.;CD86_HUMAN	N|I	210|132;102;214;208	.|ENSP00000418988:M132I;ENSP00000420230:M102I;ENSP00000332049:M214I;ENSP00000377248:M208I	.|ENSP00000332049:M214I	D|M	+|+	1|3	0|0	CD86|CD86	123307976|123307976	0.036000|0.036000	0.19791|0.19791	0.001000|0.001000	0.08648|0.08648	0.033000|0.033000	0.12548|0.12548	0.354000|0.354000	0.20146|0.20146	-0.047000|-0.047000	0.13423|0.13423	-0.181000|-0.181000	0.13052|0.13052	GAC|ATG		0.393	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		23	515	0	0	0	1	0	23	515				
MIR7162	102466227	broad.mit.edu	37	15	62539752	62539752	+	RNA	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:62539752T>A	ENST00000570077.1	-	0	170																											TGCCCGTTCGTCTGTGGGCTG	0.557																																						ENST00000570077.1																			0																																																			102466227							g.chr15:62539752T>A																													15.37:g.62539752T>A														0	170	-									RNA	SNP	ENST00000570077.1	37			.	.	.	.	.	.	.	.	.	.	T	7.448	0.641997	0.14451	.	.	ENSG00000166104	ENST00000429274	.	.	.	2.16	0.94	0.19513	.	.	.	.	.	T	0.34571	0.0902	.	.	.	.	.	.	B	0.13594	0.008	B	0.10450	0.005	T	0.35943	-0.9768	6	0.72032	D	0.01	.	6.4582	0.21942	0.0:0.0:0.249:0.751	.	73	Q8N8X6-2	.	V	73	.	ENSP00000396161:D73V	D	-	2	0	AC126323.1	60327044	0.770000	0.28543	0.260000	0.24451	0.005000	0.04900	1.469000	0.35343	0.237000	0.21200	0.247000	0.18012	GAC		0.557	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			7	22	0	0	0	1	0	7	22				
PTPRC	5788	broad.mit.edu	37	1	198703338	198703338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:198703338C>G	ENST00000367376.2	+	21	2321	c.2150C>G	c.(2149-2151)cCc>cGc	p.P717R	PTPRC_ENST00000352140.3_Missense_Mutation_p.P669R|PTPRC_ENST00000442510.2_Missense_Mutation_p.P719R|PTPRC_ENST00000594404.1_Missense_Mutation_p.P556R|PTPRC_ENST00000348564.6_Missense_Mutation_p.P558R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTCAAAGAACCCAGGAAATAC	0.294																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2149-2151)cCc>cGc		protein tyrosine phosphatase, receptor type, C							66.0	71.0	69.0					1																	198703338		2202	4298	6500	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198703338C>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2150C>G	1.37:g.198703338C>G	ENSP00000356346:p.Pro717Arg					PTPRC_ENST00000442510.2_Missense_Mutation_p.P719R|PTPRC_ENST00000352140.3_Missense_Mutation_p.P669R|PTPRC_ENST00000348564.6_Missense_Mutation_p.P558R|PTPRC_ENST00000594404.1_Missense_Mutation_p.P556R	p.P717R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			21	2321	+			717			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2150C>G		.	.	.	.	.	.	.	.	.	.	C	21.7	4.186379	0.78789	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	T	0.12147	2.71	5.77	5.77	0.91146	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.46442	D	0.000294	T	0.30510	0.0767	L	0.35542	1.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.991;0.995;0.997;0.995	T	0.01053	-1.1467	10	0.62326	D	0.03	.	19.9792	0.97320	0.0:1.0:0.0:0.0	.	653;558;669;717	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	R	719;653;669;669;717;651;556	ENSP00000193532:P669R	ENSP00000306782:P556R	P	+	2	0	PTPRC	196969961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.850000	0.69473	2.727000	0.93392	0.591000	0.81541	CCC		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				25	103	0	0	0	1	0	25	103				
OR14C36	127066	broad.mit.edu	37	1	248512906	248512906	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248512906C>A	ENST00000317861.1	+	1	830	c.830C>A	c.(829-831)tCc>tAc	p.S277Y		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	277						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(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGTTTTTATTCCATAATGCCT	0.418																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(829-831)tCc>tAc		olfactory receptor, family 14, subfamily C, member 36							98.0	94.0	96.0					1																	248512906		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512906C>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.830C>A	1.37:g.248512906C>A	ENSP00000324534:p.Ser277Tyr						p.S277Y	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	830	+			277					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.830C>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364511	0.24684	.	.	ENSG00000177174	ENST00000317861	T	0.00188	8.59	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.410669	0.17486	U	0.172501	T	0.00300	0.0009	M	0.78285	2.405	0.09310	N	1	B	0.31227	0.314	B	0.37387	0.248	T	0.18871	-1.0323	10	0.87932	D	0	.	12.4439	0.55639	0.0:0.8294:0.1706:0.0	.	277	Q8NHC7	O14CZ_HUMAN	Y	277	ENSP00000324534:S277Y	ENSP00000324534:S277Y	S	+	2	0	OR14C36	246579529	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	1.402000	0.34600	1.978000	0.57642	0.395000	0.25975	TCC		0.418	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		22	80	1	0	8.10497e-08	1	9.25461e-08	22	80				
MAP1B	4131	broad.mit.edu	37	5	71495356	71495356	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:71495356C>A	ENST00000296755.7	+	5	6472	c.6174C>A	c.(6172-6174)tcC>tcA	p.S2058S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2058					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCACATATTCCTACGAGACTT	0.468																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6172-6174)tcC>tcA		microtubule-associated protein 1B							121.0	132.0	128.0					5																	71495356		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495356C>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6174C>A	5.37:g.71495356C>A							p.S2058S	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6472	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2058					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.6174C>A	CCDS4012.1																																																																																				0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		19	118	1	0	5.3912e-06	1	5.96552e-06	19	118				
DHX35	60625	broad.mit.edu	37	20	37631503	37631503	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:37631503A>G	ENST00000252011.3	+	10	877	c.844A>G	c.(844-846)Act>Gct	p.T282A	DHX35_ENST00000373325.2_Missense_Mutation_p.T282A|DHX35_ENST00000373323.4_Missense_Mutation_p.T251A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	282	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGCATTTCTTACTGGCCAGGT	0.398																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(844-846)Act>Gct		DEAH (Asp-Glu-Ala-His) box polypeptide 35							156.0	127.0	137.0					20																	37631503		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37631503A>G	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.844A>G	20.37:g.37631503A>G	ENSP00000252011:p.Thr282Ala					DHX35_ENST00000373323.4_Missense_Mutation_p.T251A|DHX35_ENST00000373325.2_Missense_Mutation_p.T282A	p.T282A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			10	877	+		Myeloproliferative disorder(115;0.00878)	282			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.844A>G	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807680	0.90623	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	M	0.89534	3.04	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.73708	0.981;0.734	T	0.26780	-1.0093	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	251;282	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	A	282;282;251;247	ENSP00000362422:T282A;ENSP00000252011:T282A;ENSP00000362420:T251A;ENSP00000414630:T247A	ENSP00000252011:T282A	T	+	1	0	DHX35	37064917	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.587000	0.90810	2.311000	0.77944	0.533000	0.62120	ACT		0.398	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		32	102	0	0	0	1	0	32	102				
CHRNE	1145	broad.mit.edu	37	17	4805302	4805302	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:4805302G>T	ENST00000293780.4	-	5	435	c.425C>A	c.(424-426)gCc>gAc	p.A142D	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	142					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCGGTAGATGGCCGGAGGCAG	0.622																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(424-426)gCc>gAc		cholinergic receptor, nicotinic, epsilon (muscle)							57.0	53.0	54.0					17																	4805302		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805302G>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.425C>A	17.37:g.4805302G>T	ENSP00000293780:p.Ala142Asp					C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	p.A142D	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			5	435	-			142					D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.425C>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230007	0.95173	.	.	ENSG00000108556	ENST00000293780	T	0.81247	-1.47	4.78	4.78	0.61160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94163	0.7416	10	0.87932	D	0	.	15.3477	0.74355	0.0:0.0:1.0:0.0	.	142	Q04844	ACHE_HUMAN	D	142	ENSP00000293780:A142D	ENSP00000293780:A142D	A	-	2	0	CHRNE	4746081	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.585000	0.98223	2.500000	0.84329	0.561000	0.74099	GCC		0.622	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			20	72	1	0	7.41877e-09	1	8.65524e-09	20	72				
OR5B12	390191	broad.mit.edu	37	11	58206882	58206882	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:58206882A>T	ENST00000302572.2	-	1	764	c.743T>A	c.(742-744)aTc>aAc	p.I248N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCATAAAAGATGGAAACTGC	0.433																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(742-744)aTc>aAc		olfactory receptor, family 5, subfamily B, member 12							79.0	76.0	77.0					11																	58206882		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206882A>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.743T>A	11.37:g.58206882A>T	ENSP00000306657:p.Ile248Asn						p.I248N	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	764	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	248					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.743T>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.947189	0.53186	.	.	ENSG00000172362	ENST00000302572	T	0.00211	8.54	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000155	T	0.00666	0.0022	H	0.94620	3.56	0.26098	N	0.980866	D	0.69078	0.997	D	0.69479	0.964	T	0.17471	-1.0368	10	0.87932	D	0	-0.19	7.8871	0.29656	0.9057:0.0:0.0943:0.0	.	248	Q96R08	OR5BC_HUMAN	N	248	ENSP00000306657:I248N	ENSP00000306657:I248N	I	-	2	0	OR5B12	57963458	0.893000	0.30496	0.977000	0.42913	0.796000	0.44982	7.173000	0.77612	1.928000	0.55862	0.379000	0.24179	ATC		0.433	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		17	59	0	0	0	1	0	17	59				
SLC8A2	6543	broad.mit.edu	37	19	47935700	47935700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:47935700C>T	ENST00000236877.6	-	9	2508	c.2113G>A	c.(2113-2115)Gac>Aac	p.D705N	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.D461N|SLC8A2_ENST00000539381.1_Missense_Mutation_p.D168N	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	705					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCCTCCTCGTCCCCTGTGGGC	0.592																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2113-2115)Gac>Aac		solute carrier family 8 (sodium/calcium exchanger), member 2							63.0	67.0	66.0					19																	47935700		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935700C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2113G>A	19.37:g.47935700C>T	ENSP00000236877:p.Asp705Asn					SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.D461N|SLC8A2_ENST00000539381.1_Missense_Mutation_p.D168N	p.D705N	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2508	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	705					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.2113G>A	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243183	0.58995	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.67523	1.21;-0.27;1.07	3.91	3.91	0.45181	.	0.000000	0.42172	U	0.000745	D	0.82852	0.5127	M	0.90369	3.11	0.80722	D	1	D;P	0.89917	1.0;0.808	D;B	0.80764	0.994;0.242	D	0.85225	0.1029	10	0.54805	T	0.06	.	11.6848	0.51479	0.0:1.0:0.0:0.0	.	533;705	E9PGS7;Q9UPR5	.;NAC2_HUMAN	N	533;705;168;461	ENSP00000236877:D705N;ENSP00000440588:D168N;ENSP00000437536:D461N	ENSP00000236877:D705N	D	-	1	0	SLC8A2	52627512	0.998000	0.40836	1.000000	0.80357	0.917000	0.54804	5.546000	0.67243	2.202000	0.70862	0.558000	0.71614	GAC		0.592	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			21	63	0	0	0	1	0	21	63				
ATP13A3	79572	broad.mit.edu	37	3	194181535	194181535	+	Missense_Mutation	SNP	C	C	G	rs375946103		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:194181535C>G	ENST00000439040.1	-	4	868	c.77G>C	c.(76-78)cGc>cCc	p.R26P	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R26P			Q9H7F0	AT133_HUMAN	ATPase type 13A3	26						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAGCTTCCAGCGACTCAAATT	0.433																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(76-78)cGc>cCc		ATPase type 13A3							69.0	65.0	66.0					3																	194181535		1902	4129	6031	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181535C>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.77G>C	3.37:g.194181535C>G	ENSP00000416508:p.Arg26Pro					ATP13A3_ENST00000256031.4_Missense_Mutation_p.R26P	p.R26P			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	868	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	26					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.77G>C	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043430	0.75732	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000457986;ENST00000446356	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.39898	1.24	0.80722	D	1	B	0.19583	0.037	B	0.26094	0.066	T	0.02098	-1.1214	10	0.35671	T	0.21	-9.4273	20.8598	0.99761	0.0:1.0:0.0:0.0	.	26	Q9H7F0	AT133_HUMAN	P	26	ENSP00000416508:R26P;ENSP00000256031:R26P;ENSP00000406234:R26P;ENSP00000410767:R26P	ENSP00000256031:R26P	R	-	2	0	ATP13A3	195662824	0.911000	0.30947	1.000000	0.80357	0.881000	0.50899	1.023000	0.30065	2.937000	0.99478	0.650000	0.86243	CGC		0.433	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		20	145	0	0	0	1	0	20	145				
DCHS1	8642	broad.mit.edu	37	11	6648870	6648870	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:6648870T>C	ENST00000299441.3	-	14	5811	c.5400A>G	c.(5398-5400)ctA>ctG	p.L1800L	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1800	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCAAGGTCTAGGACAAAGG	0.547																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(5398-5400)ctA>ctG		dachsous cadherin-related 1							25.0	24.0	24.0					11																	6648870		2201	4295	6496	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648870T>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5400A>G	11.37:g.6648870T>C							p.L1800L	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	5811	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1800			Cadherin 17.		O15098	Silent	SNP	ENST00000299441.3	37	c.5400A>G	CCDS7771.1																																																																																				0.547	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	36	0	0	0	1	0	13	36				
RWDD2A	112611	broad.mit.edu	37	6	83905690	83905690	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:83905690G>C	ENST00000369724.4	+	3	783	c.578G>C	c.(577-579)gGt>gCt	p.G193A	PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000512866.1_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.G139A	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	193										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GGAAAGCCTGGTATAATCTGT	0.428																																						ENST00000369724.4																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5						c.(577-579)gGt>gCt		RWD domain containing 2A							113.0	119.0	117.0					6																	83905690		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83905690G>C	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.578G>C	6.37:g.83905690G>C	ENSP00000358739:p.Gly193Ala					RWDD2A_ENST00000539997.1_Missense_Mutation_p.G139A	p.G193A	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	3	783	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	193					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.578G>C	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691491	0.68271	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	.	.	.	5.38	5.38	0.77491	Domain of unknown function DUF1115 (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73084	-0.4094	9	0.48119	T	0.1	-16.6571	19.3333	0.94303	0.0:0.0:1.0:0.0	.	193	Q9UIY3	RWD2A_HUMAN	A	193;139	.	ENSP00000358739:G193A	G	+	2	0	RWDD2A	83962409	1.000000	0.71417	0.298000	0.25002	0.326000	0.28443	9.099000	0.94207	2.793000	0.96121	0.655000	0.94253	GGT		0.428	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		6	98	0	0	0	1	0	6	98				
OR2M2	391194	broad.mit.edu	37	1	248344149	248344149	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248344149C>G	ENST00000359682.2	+	1	862	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	288						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)			GCTGAATCCCCTCATCTACAG	0.463																																						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.(862-864)Ctc>Gtc		olfactory receptor, family 2, subfamily M, member 2							177.0	164.0	168.0					1																	248344149		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344149C>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.862C>G	1.37:g.248344149C>G	ENSP00000352710:p.Leu288Val						p.L288V	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	862	+	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)		288					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.862C>G	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	9.817	1.184795	0.21870	.	.	ENSG00000198601	ENST00000359682	T	0.39592	1.07	2.03	-0.0368	0.13887	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45677	0.1354	L	0.35288	1.05	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.26052	-1.0114	9	0.54805	T	0.06	.	3.8343	0.08888	0.0:0.4272:0.1954:0.3773	.	288	Q96R28	OR2M2_HUMAN	V	288	ENSP00000352710:L288V	ENSP00000352710:L288V	L	+	1	0	OR2M2	246410772	0.000000	0.05858	0.052000	0.19188	0.008000	0.06430	-2.910000	0.00699	0.202000	0.20498	0.454000	0.30748	CTC		0.463	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		61	195	0	0	0	1	0	61	195				
SYTL4	94121	broad.mit.edu	37	X	99945602	99945602	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:99945602T>C	ENST00000372989.1	-	9	1006	c.675A>G	c.(673-675)ccA>ccG	p.P225P	SYTL4_ENST00000276141.6_Silent_p.P225P|SYTL4_ENST00000454200.2_Silent_p.P226P|SYTL4_ENST00000455616.1_Silent_p.P225P|SYTL4_ENST00000263033.5_Silent_p.P225P|SYTL4_ENST00000372981.1_Silent_p.P225P	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	225					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTTCCATTCTGGAAAGAGGC	0.458																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(673-675)ccA>ccG		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						131.0	114.0	120.0					X																	99945602		2203	4300	6503	SO:0001819	synonymous_variant	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99945602T>C		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.675A>G	X.37:g.99945602T>C						SYTL4_ENST00000455616.1_Silent_p.P225P|SYTL4_ENST00000263033.5_Silent_p.P225P|SYTL4_ENST00000372989.1_Silent_p.P225P|SYTL4_ENST00000454200.2_Silent_p.P226P|SYTL4_ENST00000276141.6_Silent_p.P225P	p.P225P			Q96C24	SYTL4_HUMAN			7	861	-			225					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	c.675A>G	CCDS14472.1																																																																																				0.458	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		20	25	0	0	0	1	0	20	25				
GRXCR1	389207	broad.mit.edu	37	4	42895299	42895299	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:42895299A>T	ENST00000399770.2	+	1	16	c.16A>T	c.(16-18)Atg>Ttg	p.M6L	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	6					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TAAAAGGGAGATGAAGCCAGA	0.502																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(16-18)Atg>Ttg		glutaredoxin, cysteine rich 1							89.0	95.0	93.0					4																	42895299		2029	4182	6211	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895299A>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.16A>T	4.37:g.42895299A>T	ENSP00000382670:p.Met6Leu						p.M6L	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	16	+			6						Missense_Mutation	SNP	ENST00000399770.2	37	c.16A>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	A	3.884	-0.025388	0.07589	.	.	ENSG00000215203	ENST00000399770	T	0.30714	1.52	5.83	3.45	0.39498	.	1.152660	0.06316	U	0.703619	T	0.18509	0.0444	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.26326	-1.0106	10	0.02654	T	1	0.1987	7.4541	0.27255	0.77:0.0:0.23:0.0	.	6	A8MXD5	GRCR1_HUMAN	L	6	ENSP00000382670:M6L	ENSP00000382670:M6L	M	+	1	0	GRXCR1	42590056	0.075000	0.21258	0.976000	0.42696	0.015000	0.08874	0.678000	0.25277	1.037000	0.40024	0.528000	0.53228	ATG		0.502	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		22	36	0	0	0	1	0	22	36				
KIF21A	55605	broad.mit.edu	37	12	39705291	39705291	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:39705291T>C	ENST00000361418.5	-	32	4039	c.4024A>G	c.(4024-4026)Ata>Gta	p.I1342V	KIF21A_ENST00000361961.3_Missense_Mutation_p.I1329V|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000541463.2_Missense_Mutation_p.I1289V|KIF21A_ENST00000395670.3_Missense_Mutation_p.I1343V|KIF21A_ENST00000544797.2_Missense_Mutation_p.I1305V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1342					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)				CCTTCAGCTATGTGAATACAC	0.413																																						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.(4027-4029)Ata>Gta		kinesin family member 21A							137.0	128.0	131.0					12																	39705291		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39705291T>C	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.4024A>G	12.37:g.39705291T>C	ENSP00000354878:p.Ile1342Val					KIF21A_ENST00000361961.3_Missense_Mutation_p.I1329V|KIF21A_ENST00000541463.2_Missense_Mutation_p.I1289V|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Missense_Mutation_p.I1305V|KIF21A_ENST00000361418.5_Missense_Mutation_p.I1342V	p.I1343V			Q7Z4S6	KI21A_HUMAN			31	4446	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1342					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4027A>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	2.710	-0.269080	0.05716	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.29	1.39	0.22231	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.276153	0.26669	N	0.023112	T	0.26011	0.0634	N	0.04959	-0.14	0.24052	N	0.996048	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B	0.08055	0.001;0.0;0.003;0.001;0.001;0.002	T	0.26503	-1.0101	10	0.05620	T	0.96	.	6.6157	0.22776	0.0:0.1394:0.1298:0.7308	.	1305;1289;1342;1329;1295;329	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	V	1329;1343;1295;329;323;1305;1342;1289	ENSP00000354851:I1329V;ENSP00000379029:I1343V;ENSP00000448792:I323V;ENSP00000445606:I1305V;ENSP00000354878:I1342V;ENSP00000438075:I1289V	ENSP00000344501:I1295V	I	-	1	0	KIF21A	37991558	0.997000	0.39634	0.979000	0.43373	0.985000	0.73830	1.537000	0.36083	-0.013000	0.14199	0.533000	0.62120	ATA		0.413	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		26	101	0	0	0	1	0	26	101				
KLHL1	57626	broad.mit.edu	37	13	70549918	70549918	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:70549918G>C	ENST00000377844.4	-	2	1273	c.514C>G	c.(514-516)Cat>Gat	p.H172D	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	172					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCATTGAATGGCCGGTTGAT	0.383																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(514-516)Cat>Gat		kelch-like family member 1							105.0	91.0	96.0					13																	70549918		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70549918G>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.514C>G	13.37:g.70549918G>C	ENSP00000367075:p.His172Asp					KLHL1_ENST00000545028.1_Intron	p.H172D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	2	1273	-		Breast(118;0.000162)	172					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.514C>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	3.710	-0.059824	0.07317	.	.	ENSG00000150361	ENST00000377844	T	0.70631	-0.5	5.68	3.91	0.45181	.	1.132510	0.06627	N	0.758530	T	0.57066	0.2028	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.13202	-1.0518	10	0.12103	T	0.63	.	15.3271	0.74172	0.0:0.0:0.7569:0.2431	.	172	Q9NR64	KLHL1_HUMAN	D	172	ENSP00000367075:H172D	ENSP00000367075:H172D	H	-	1	0	KLHL1	69447919	1.000000	0.71417	0.883000	0.34634	0.003000	0.03518	5.087000	0.64480	0.830000	0.34757	-0.467000	0.05162	CAT		0.383	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		18	58	0	0	0	1	0	18	58				
NELL2	4753	broad.mit.edu	37	12	44913863	44913863	+	Silent	SNP	G	G	A	rs181616852	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:44913863G>A	ENST00000429094.2	-	19	2829	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	NELL2_ENST00000549027.1_Silent_p.D774D|NELL2_ENST00000395487.2_Silent_p.D774D|NELL2_ENST00000437801.2_Silent_p.D825D|NELL2_ENST00000452445.2_Silent_p.D775D|NELL2_ENST00000551601.1_Silent_p.D727D|NELL2_ENST00000333837.4_Silent_p.D798D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	775						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATTCATTTCGTCCAGGCAAG	0.493													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19062	0.002		0.0	False		,,,				2504	0.0					ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2323-2325)gaC>gaT		NEL-like 2 (chicken)		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	129.0	109.0	115.0		2475,2325,2322,2394,2325	-6.0	0.8	12		115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NELL2	NM_001145107.1,NM_001145108.1,NM_001145109.1,NM_001145110.1,NM_006159.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	825/867,775/817,774/816,798/840,775/817	44913863	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913863G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2325C>T	12.37:g.44913863G>A						NELL2_ENST00000549027.1_Silent_p.D774D|NELL2_ENST00000452445.2_Silent_p.D775D|NELL2_ENST00000333837.4_Silent_p.D798D|NELL2_ENST00000395487.2_Silent_p.D774D|NELL2_ENST00000437801.2_Silent_p.D825D|NELL2_ENST00000551601.1_Silent_p.D727D	p.D775D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2829	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	775			VWFC 5.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.2325C>T	CCDS8746.1																																																																																				0.493	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		14	62	0	0	0	1	0	14	62				
SRCAP	10847	broad.mit.edu	37	16	30719028	30719028	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:30719028G>A	ENST00000262518.4	+	6	1013	c.628G>A	c.(628-630)Gag>Aag	p.E210K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E210K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E210K|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	210					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGCAATGTGGAGAAGGTAGA	0.522																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(628-630)Gag>Aag		Snf2-related CREBBP activator protein							159.0	111.0	127.0					16																	30719028		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30719028G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.628G>A	16.37:g.30719028G>A	ENSP00000262518:p.Glu210Lys					SRCAP_ENST00000344771.4_Missense_Mutation_p.E210K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E210K	p.E210K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		6	1013	+			210					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.628G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551751	0.65311	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92858	-3.12;-3.08;-3.07	5.29	5.29	0.74685	.	0.000000	0.52532	D	0.000073	D	0.95373	0.8498	M	0.62154	1.92	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.95357	0.8452	10	0.66056	D	0.02	-12.089	17.8681	0.88801	0.0:0.0:1.0:0.0	.	210;210	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	210	ENSP00000262518:E210K;ENSP00000378499:E210K;ENSP00000343042:E210K	ENSP00000262518:E210K	E	+	1	0	SRCAP	30626529	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.539000	0.98076	2.756000	0.94617	0.561000	0.74099	GAG		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		27	54	0	0	0	1	0	27	54				
SRCAP	10847	broad.mit.edu	37	16	30747674	30747674	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:30747674A>T	ENST00000262518.4	+	32	7268	c.6883A>T	c.(6883-6885)Atg>Ttg	p.M2295L	SRCAP_ENST00000344771.4_Missense_Mutation_p.M2137L|SRCAP_ENST00000395059.2_Missense_Mutation_p.M2233L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2295	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGATGAGGAGATGTCCCGGGC	0.572																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6883-6885)Atg>Ttg		Snf2-related CREBBP activator protein							80.0	71.0	74.0					16																	30747674		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30747674A>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6883A>T	16.37:g.30747674A>T	ENSP00000262518:p.Met2295Leu					SRCAP_ENST00000344771.4_Missense_Mutation_p.M2137L|SRCAP_ENST00000395059.2_Missense_Mutation_p.M2233L	p.M2295L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		32	7268	+			2295			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6883A>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226200	0.39300	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90133	-2.6;-2.62;-2.61	5.23	2.69	0.31865	.	0.258617	0.29165	N	0.012944	T	0.68833	0.3044	N	0.01576	-0.805	0.24066	N	0.996	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.58312	-0.7658	10	0.11485	T	0.65	-7.4579	4.4512	0.11621	0.592:0.1694:0.2386:0.0	.	2233;2295	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2295;2233;2137	ENSP00000262518:M2295L;ENSP00000378499:M2233L;ENSP00000343042:M2137L	ENSP00000262518:M2295L	M	+	1	0	SRCAP	30655175	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.442000	0.44873	0.873000	0.35799	0.460000	0.39030	ATG		0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		24	60	0	0	0	1	0	24	60				
LIPG	9388	broad.mit.edu	37	18	47093899	47093899	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:47093899T>A	ENST00000261292.4	+	3	645	c.367T>A	c.(367-369)Tgg>Agg	p.W123R	LIPG_ENST00000580036.1_Missense_Mutation_p.W123R|LIPG_ENST00000427224.2_Missense_Mutation_p.W123R|LIPG_ENST00000577628.1_Missense_Mutation_p.W159R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	123					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGTGGTTGACTGGCTCCCCCT	0.542																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(367-369)Tgg>Agg		lipase, endothelial							93.0	78.0	83.0					18																	47093899		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47093899T>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.367T>A	18.37:g.47093899T>A	ENSP00000261292:p.Trp123Arg					LIPG_ENST00000427224.2_Missense_Mutation_p.W123R|LIPG_ENST00000577628.1_Missense_Mutation_p.W159R|LIPG_ENST00000580036.1_Missense_Mutation_p.W123R	p.W123R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			3	645	+			123					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.367T>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414746	0.83449	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.92495	-3.05;-3.05	5.13	5.13	0.70059	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.99357	4.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99490	1.0950	10	0.87932	D	0	-24.6838	14.9727	0.71246	0.0:0.0:0.0:1.0	.	123;123;123	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	R	123	ENSP00000261292:W123R;ENSP00000387978:W123R	ENSP00000261292:W123R	W	+	1	0	LIPG	45347897	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.955000	0.87856	1.942000	0.56320	0.459000	0.35465	TGG		0.542	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		9	36	0	0	0	1	0	9	36				
GALNT12	79695	broad.mit.edu	37	9	101602387	101602387	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:101602387C>T	ENST00000375011.3	+	7	1316	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	439					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTGCATGTGCCTGAGGACAGG	0.582																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1315-1317)cCt>cTt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							158.0	147.0	151.0					9																	101602387		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101602387C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1316C>T	9.37:g.101602387C>T	ENSP00000364150:p.Pro439Leu						p.P439L	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			7	1316	+		Acute lymphoblastic leukemia(62;0.0559)	439					Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1316C>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229040	0.95173	.	.	ENSG00000119514	ENST00000375011	T	0.65549	-0.16	5.93	5.93	0.95920	Ricin B-related lectin (1);	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	D	0.85196	0.1012	10	0.87932	D	0	.	17.8445	0.88725	0.0:1.0:0.0:0.0	.	439	Q8IXK2	GLT12_HUMAN	L	439	ENSP00000364150:P439L	ENSP00000364150:P439L	P	+	2	0	GALNT12	100642208	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.818000	0.86416	2.808000	0.96608	0.655000	0.94253	CCT		0.582	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		25	198	0	0	0	1	0	25	198				
PCDH11X	27328	broad.mit.edu	37	X	91090570	91090570	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:91090570G>A	ENST00000373094.1	+	1	912	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	23					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTCTGGCGCCCAGGAGAA	0.473																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(67-69)Gcc>Acc		protocadherin 11 X-linked							130.0	100.0	110.0					X																	91090570		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090570G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.67G>A	X.37:g.91090570G>A	ENSP00000362186:p.Ala23Thr					PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T	p.A23T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	912	+			23					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.67G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988824	0.74589	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.6;0.61;0.55;0.62;0.59;0.6;0.62;0.62	3.93	3.93	0.45458	.	0.073883	0.53938	D	0.000057	T	0.60521	0.2275	L	0.31845	0.965	0.42091	D	0.991297	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.999;0.999;0.998;0.998	P;D;D;D;D;P;P;P	0.70227	0.908;0.968;0.949;0.949;0.949;0.89;0.908;0.908	T	0.64114	-0.6483	10	0.52906	T	0.07	.	14.4726	0.67526	0.0:0.0:1.0:0.0	.	23;23;23;23;23;23;23;23	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	23	ENSP00000378746:A23T;ENSP00000362186:A23T;ENSP00000362189:A23T;ENSP00000355040:A23T;ENSP00000362180:A23T;ENSP00000423762:A23T;ENSP00000355105:A23T;ENSP00000384758:A23T;ENSP00000298274:A23T	ENSP00000298274:A23T	A	+	1	0	PCDH11X	90977226	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.929000	0.75852	1.935000	0.56089	0.415000	0.27848	GCC		0.473	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		42	32	0	0	0	1	0	42	32				
NPAP1	23742	broad.mit.edu	37	15	24922198	24922198	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:24922198C>A	ENST00000329468.2	+	1	1658	c.1184C>A	c.(1183-1185)aCc>aAc	p.T395N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	395	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGCAGCATCACCCAGCCTGCC	0.527																																						ENST00000329468.2																			0											c.(1183-1185)aCc>aAc		nuclear pore associated protein 1							67.0	68.0	68.0					15																	24922198		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922198C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1184C>A	15.37:g.24922198C>A	ENSP00000333735:p.Thr395Asn						p.T395N	NM_018958.2	NP_061831.2					1	1658	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1184C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.278	1.047507	0.19827	.	.	ENSG00000185823	ENST00000329468	T	0.13089	2.62	1.88	-1.65	0.08291	.	2.505670	0.01718	N	0.028114	T	0.10852	0.0265	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.44623	0.455	T	0.14172	-1.0482	10	0.28530	T	0.3	.	2.6701	0.05065	0.0:0.3703:0.2602:0.3695	.	395	Q9NZP6	CO002_HUMAN	N	395	ENSP00000333735:T395N	ENSP00000333735:T395N	T	+	2	0	C15orf2	22473291	0.009000	0.17119	0.000000	0.03702	0.019000	0.09904	1.348000	0.33987	-0.440000	0.07211	0.313000	0.20887	ACC		0.527	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		16	35	1	0	3.32936e-07	1	3.74844e-07	16	35				
ACVR1C	130399	broad.mit.edu	37	2	158412844	158412844	+	Splice_Site	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:158412844G>A	ENST00000243349.8	-	3	665	c.305C>T	c.(304-306)gCa>gTa	p.A102V	ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Splice_Site_p.A52V|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTTGGTGATGCTACAGTTTA	0.403																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.e3-1		activin A receptor, type IC							89.0	78.0	82.0					2																	158412844		2203	4300	6503	SO:0001630	splice_region_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158412844G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.305-1C>T	2.37:g.158412844G>A						ACVR1C_ENST00000409680.3_Splice_Site_p.A52_splice|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron	p.A102_splice	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			3	665	-			102						Splice_Site	SNP	ENST00000243349.8	37	c.304_splice	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659363	0.29515	.	.	ENSG00000123612	ENST00000243349;ENST00000409680	T;T	0.34472	1.36;1.36	5.62	4.74	0.60224	.	0.387986	0.21708	N	0.070307	T	0.18467	0.0443	N	0.08118	0	0.52099	D	0.999949	B	0.06786	0.001	B	0.04013	0.001	T	0.06023	-1.0850	10	0.28530	T	0.3	.	9.0791	0.36540	0.0776:0.0:0.7759:0.1465	.	102	Q8NER5	ACV1C_HUMAN	V	102;52	ENSP00000243349:A102V;ENSP00000387168:A52V	ENSP00000243349:A102V	A	-	2	0	ACVR1C	158121090	0.027000	0.19231	0.897000	0.35233	0.928000	0.56348	0.534000	0.23098	1.385000	0.46445	0.650000	0.86243	GCA		0.403	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	Missense_Mutation	24	73	0	0	0	1	0	24	73				
HMCN1	83872	broad.mit.edu	37	1	186026439	186026439	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:186026439G>C	ENST00000271588.4	+	46	7447	c.7218G>C	c.(7216-7218)ttG>ttC	p.L2406F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2406F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2406	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTATCTTTGACTTGTGAAG	0.423																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(7216-7218)ttG>ttC		hemicentin 1							113.0	112.0	113.0					1																	186026439		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186026439G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7218G>C	1.37:g.186026439G>C	ENSP00000271588:p.Leu2406Phe					HMCN1_ENST00000367492.2_Missense_Mutation_p.L2406F	p.L2406F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			46	7447	+			2406			Ig-like C2-type 22.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7218G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236680	0.58886	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.8	1.69	0.24217	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	L	0.45698	1.435	0.51767	D	0.999939	D	0.89917	1.0	D	0.87578	0.998	T	0.63198	-0.6691	10	0.18276	T	0.48	.	8.0681	0.30672	0.4277:0.0:0.5723:0.0	.	2406	Q96RW7	HMCN1_HUMAN	F	2406	ENSP00000271588:L2406F;ENSP00000356462:L2406F	ENSP00000271588:L2406F	L	+	3	2	HMCN1	184293062	1.000000	0.71417	0.138000	0.22173	0.839000	0.47603	1.412000	0.34714	0.040000	0.15660	-0.142000	0.14014	TTG		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	85	0	0	0	1	0	18	85				
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A	rs398124146		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		7	Substitution - Missense(7)	p.R1446C(6)|p.R1446G(1)	haematopoietic_and_lymphoid_tissue(4)|urinary_tract(1)|lung(1)|central_nervous_system(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4336-4338)Cgc>Tgc		CREB binding protein							75.0	68.0	71.0					16																	3788618		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788618G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4336C>T	16.37:g.3788618G>A	ENSP00000262367:p.Arg1446Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	p.R1446C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	5145	-		Ovarian(90;0.0266)	1446			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4336C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	17.20	3.329498	0.60743	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94330	-3.4;-3.4	5.28	4.29	0.51040	.	0.000000	0.64402	D	0.000004	D	0.97739	0.9258	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.6499	15.2916	0.73870	0.0:0.0:0.8588:0.1412	.	1476;1446	Q4LE28;Q92793	.;CBP_HUMAN	C	1446;1476;1408;35	ENSP00000262367:R1446C;ENSP00000371502:R1408C	ENSP00000262367:R1446C	R	-	1	0	CREBBP	3728619	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.937000	0.63513	1.303000	0.44873	0.561000	0.74099	CGC		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		20	35	0	0	0	1	0	20	35				
KCND2	3751	broad.mit.edu	37	7	119915441	119915441	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:119915441C>A	ENST00000331113.4	+	1	1720	c.755C>A	c.(754-756)cCt>cAt	p.P252H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	252					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCTGCAGCGCCTAGTCGTTAC	0.537																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(754-756)cCt>cAt		potassium voltage-gated channel, Shal-related subfamily, member 2							188.0	156.0	167.0					7																	119915441		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915441C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.755C>A	7.37:g.119915441C>A	ENSP00000333496:p.Pro252His						p.P252H	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1720	+	all_neural(327;0.117)		252					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.755C>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231706	0.79688	.	.	ENSG00000184408	ENST00000331113	D	0.97620	-4.46	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99490	1.0950	9	.	.	.	.	19.5635	0.95382	0.0:1.0:0.0:0.0	.	252	Q9NZV8	KCND2_HUMAN	H	252	ENSP00000333496:P252H	.	P	+	2	0	KCND2	119702677	1.000000	0.71417	0.816000	0.32577	0.961000	0.63080	7.818000	0.86416	2.636000	0.89361	0.557000	0.71058	CCT		0.537	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		28	49	1	0	4.43304e-23	1	6.28827e-23	28	49				
COL5A1	1289	broad.mit.edu	37	9	137726895	137726895	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:137726895C>A	ENST00000371817.3	+	65	5629	c.5215C>A	c.(5215-5217)Cac>Aac	p.H1739N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1739	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGCCTCTGCCCACCAGAACGT	0.652																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5215-5217)Cac>Aac		collagen, type V, alpha 1							73.0	55.0	61.0					9																	137726895		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137726895C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5215C>A	9.37:g.137726895C>A	ENSP00000360882:p.His1739Asn						p.H1739N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	65	5629	+		Myeloproliferative disorder(178;0.0341)	1739			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5215C>A	CCDS6982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.610632|2.610632	0.46527|0.46527	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371817;ENST00000355306|ENST00000371820	T|.	0.72725|.	-0.68|.	5.03|5.03	2.05|2.05	0.26809|0.26809	Fibrillar collagen, C-terminal (4);|.	0.578453|.	0.15515|.	N|.	0.258350|.	T|T	0.52517|0.52517	0.1739|0.1739	M|M	0.72576|0.72576	2.205|2.205	0.25841|0.25841	N|N	0.984054|0.984054	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.44298|0.44298	-0.9337|-0.9337	10|5	0.59425|.	D|.	0.04|.	.|.	7.9897|7.9897	0.30233|0.30233	0.4048:0.5231:0.0:0.072|0.4048:0.5231:0.0:0.072	.|.	1739|.	P20908|.	CO5A1_HUMAN|.	N|Q	1739;276|158	ENSP00000360882:H1739N|.	ENSP00000347458:H276N|.	H|P	+|+	1|2	0|0	COL5A1|COL5A1	136866716|136866716	0.997000|0.997000	0.39634|0.39634	0.992000|0.992000	0.48379|0.48379	0.913000|0.913000	0.54294|0.54294	1.161000|1.161000	0.31773|0.31773	0.123000|0.123000	0.18342|0.18342	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.652	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	45	1	0	1.6384e-10	1	1.99835e-10	6	45				
TAPT1	202018	broad.mit.edu	37	4	16188493	16188493	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:16188493C>T	ENST00000405303.2	-	6	840	c.757G>A	c.(757-759)Gca>Aca	p.A253T	TAPT1_ENST00000399920.3_Missense_Mutation_p.A142T|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000304584.8_Intron	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	253					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATAAGAATTGCATGCAAAACT	0.274																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.(757-759)Gca>Aca		transmembrane anterior posterior transformation 1							83.0	77.0	79.0					4																	16188493		1802	4074	5876	SO:0001583	missense	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16188493C>T	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.757G>A	4.37:g.16188493C>T	ENSP00000385347:p.Ala253Thr					TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.A142T|TAPT1_ENST00000304584.8_Intron	p.A253T	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			6	840	-			253					Q8N2S3|Q9NZK9	Missense_Mutation	SNP	ENST00000405303.2	37	c.757G>A	CCDS47030.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626730	0.46840	.	.	ENSG00000169762	ENST00000405303;ENST00000542770;ENST00000399920	T;T	0.33654	1.4;1.43	5.37	5.37	0.77165	.	0.046925	0.85682	D	0.000000	T	0.24084	0.0583	N	0.04746	-0.17	0.80722	D	1	B	0.32409	0.37	B	0.34873	0.191	T	0.09751	-1.0660	10	0.31617	T	0.26	-0.3992	19.472	0.94966	0.0:1.0:0.0:0.0	.	253	Q6NXT6	TAPT1_HUMAN	T	253;253;142	ENSP00000385347:A253T;ENSP00000382803:A142T	ENSP00000382803:A142T	A	-	1	0	TAPT1	15797591	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.536000	0.60636	2.665000	0.90641	0.591000	0.81541	GCA		0.274	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		7	60	0	0	0	1	0	7	60				
OR5D16	390144	broad.mit.edu	37	11	55606771	55606771	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55606771G>A	ENST00000378396.1	+	1	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTTCTTCTGTGAGTTATCCTC	0.413																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(544-546)Gag>Aag		olfactory receptor, family 5, subfamily D, member 16							181.0	161.0	168.0					11																	55606771		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606771G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.544G>A	11.37:g.55606771G>A	ENSP00000367649:p.Glu182Lys						p.E182K	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	544	+		all_epithelial(135;0.208)	182					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.544G>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.294321	0.81025	.	.	ENSG00000205029	ENST00000378396	T	0.00202	8.56	4.31	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	M	0.93550	3.43	0.32340	N	0.559877	P	0.46621	0.881	P	0.59889	0.865	T	0.01706	-1.1291	9	0.87932	D	0	-22.8055	12.638	0.56694	0.0:0.0:0.8329:0.1671	.	182	Q8NGK9	OR5DG_HUMAN	K	182	ENSP00000367649:E182K	ENSP00000367649:E182K	E	+	1	0	OR5D16	55363347	1.000000	0.71417	0.846000	0.33378	0.937000	0.57800	6.877000	0.75562	0.960000	0.38005	0.530000	0.56133	GAG		0.413	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		21	67	0	0	0	1	0	21	67				
COL19A1	1310	broad.mit.edu	37	6	70909342	70909342	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:70909342A>T	ENST00000322773.4	+	49	3227	c.3125A>T	c.(3124-3126)aAg>aTg	p.K1042M	COL19A1_ENST00000393344.1_Missense_Mutation_p.K664M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1042					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCCAGCTCAAGCTGCCAGCA	0.458																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(3124-3126)aAg>aTg		collagen, type XIX, alpha 1							62.0	64.0	63.0					6																	70909342		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70909342A>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3125A>T	6.37:g.70909342A>T	ENSP00000316030:p.Lys1042Met					COL19A1_ENST00000393344.1_Missense_Mutation_p.K664M	p.K1042M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			49	3227	+			1042					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3125A>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273882	0.59649	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.92495	-3.05;-2.98	5.91	5.91	0.95273	.	0.138755	0.47852	D	0.000219	D	0.93252	0.7850	L	0.47716	1.5	0.45541	D	0.998499	D	0.89917	1.0	D	0.67231	0.95	D	0.94235	0.7480	10	0.72032	D	0.01	.	16.3469	0.83138	1.0:0.0:0.0:0.0	.	1042	Q14993	COJA1_HUMAN	M	1042;664;117	ENSP00000316030:K1042M;ENSP00000377013:K664M	ENSP00000316030:K1042M	K	+	2	0	COL19A1	70966063	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.372000	0.73123	2.263000	0.75096	0.528000	0.53228	AAG		0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			25	76	0	0	0	1	0	25	76				
PKP4	8502	broad.mit.edu	37	2	159389730	159389730	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:159389730G>A	ENST00000389759.3	+	2	146	c.34G>A	c.(34-36)Gag>Aag	p.E12K	PKP4_ENST00000389757.3_Missense_Mutation_p.E12K|snoZ5_ENST00000515912.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	12					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATTGGTGGAGGAGGGGCAACC	0.587										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(34-36)Gag>Aag		plakophilin 4							43.0	40.0	41.0					2																	159389730		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159389730G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.34G>A	2.37:g.159389730G>A	ENSP00000374409:p.Glu12Lys	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.E12K	p.E12K	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			2	159	+			12					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.34G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061820	0.36373	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75154	-0.89;-0.91	6.17	6.17	0.99709	.	0.118979	0.56097	D	0.000039	T	0.58090	0.2098	N	0.08118	0	0.80722	D	1	P;P	0.43287	0.802;0.702	B;B	0.40677	0.337;0.182	T	0.57991	-0.7715	10	0.11182	T	0.66	-15.3694	19.6509	0.95805	0.0:0.0:1.0:0.0	.	12;12	Q99569-2;Q99569	.;PKP4_HUMAN	K	12	ENSP00000374407:E12K;ENSP00000374409:E12K	ENSP00000374407:E12K	E	+	1	0	PKP4	159097976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.234000	0.89801	2.941000	0.99782	0.655000	0.94253	GAG		0.587	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			4	24	0	0	0	1	0	4	24				
SLITRK3	22865	broad.mit.edu	37	3	164907600	164907600	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:164907600C>T	ENST00000475390.1	-	2	1462	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	340					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R340L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTGGTGTTCGAGGCTGTTT	0.483										HNSCC(40;0.11)																												ENST00000475390.1																			1	Substitution - Missense(1)	p.R340L(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1018-1020)cGa>cAa		SLIT and NTRK-like family, member 3							309.0	322.0	317.0					3																	164907600		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907600C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1019G>A	3.37:g.164907600C>T	ENSP00000420091:p.Arg340Gln	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340Q	p.R340Q			O94933	SLIK3_HUMAN			2	1462	-			340					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1019G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631282	0.67015	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52983	0.64;0.64	5.6	5.6	0.85130	.	0.000000	0.28431	N	0.015370	T	0.66127	0.2758	M	0.62723	1.935	0.52501	D	0.999953	D	0.69078	0.997	D	0.70227	0.968	T	0.59606	-0.7423	10	0.27082	T	0.32	-10.7995	19.2358	0.93858	0.0:1.0:0.0:0.0	.	340	O94933	SLIK3_HUMAN	Q	340	ENSP00000420091:R340Q;ENSP00000241274:R340Q	ENSP00000241274:R340Q	R	-	2	0	SLITRK3	166390294	0.988000	0.35896	0.997000	0.53966	0.987000	0.75469	7.487000	0.81328	2.662000	0.90505	0.655000	0.94253	CGA		0.483	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		179	210	0	0	0	1	0	179	210				
PCDH11X	27328	broad.mit.edu	37	X	91090650	91090650	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:91090650G>T	ENST00000373094.1	+	1	992	c.147G>T	c.(145-147)ttG>ttT	p.L49F	PCDH11X_ENST00000361655.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L49F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L49F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTTAACTTGTCGCTGATTC	0.478																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(145-147)ttG>ttT		protocadherin 11 X-linked							182.0	136.0	152.0					X																	91090650		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090650G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.147G>T	X.37:g.91090650G>T	ENSP00000362186:p.Leu49Phe					PCDH11X_ENST00000298274.8_Missense_Mutation_p.L49F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L49F	p.L49F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	992	+			49			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.147G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	8.945	0.966807	0.18659	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	3.93	2.09	0.27110	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.64402	D	0.000010	T	0.64271	0.2583	M	0.77712	2.385	0.39384	D	0.966307	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.81914	0.988;0.994;0.991;0.991;0.991;0.995;0.988;0.978	T	0.61088	-0.7133	10	0.37606	T	0.19	.	3.0052	0.06026	0.3553:0.0:0.4493:0.1954	.	49;49;49;49;49;49;49;49	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	49	ENSP00000378746:L49F;ENSP00000362186:L49F;ENSP00000362189:L49F;ENSP00000355040:L49F;ENSP00000362180:L49F;ENSP00000423762:L49F;ENSP00000355105:L49F;ENSP00000384758:L49F;ENSP00000298274:L49F	ENSP00000298274:L49F	L	+	3	2	PCDH11X	90977306	1.000000	0.71417	0.955000	0.39395	0.246000	0.25737	0.630000	0.24553	0.257000	0.21650	0.415000	0.27848	TTG		0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		34	34	1	0	1.22384e-17	1	1.63517e-17	34	34				
OR5I1	10798	broad.mit.edu	37	11	55703522	55703522	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55703522C>G	ENST00000301532.3	-	1	354	c.355G>C	c.(355-357)Gcc>Ccc	p.A119P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433																																						ENST00000301532.3																			1	Substitution - Missense(1)	p.A119T(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(355-357)Gcc>Ccc		olfactory receptor, family 5, subfamily I, member 1							54.0	56.0	55.0					11																	55703522		2201	4292	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703522C>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.355G>C	11.37:g.55703522C>G	ENSP00000301532:p.Ala119Pro						p.A119P	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	354	-			119					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.355G>C	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794263	0.31777	.	.	ENSG00000167825	ENST00000301532	T	0.03152	4.03	4.94	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.142736	0.32287	N	0.006305	T	0.15305	0.0369	M	0.90425	3.115	0.09310	N	1	D	0.63046	0.992	P	0.56088	0.791	T	0.06110	-1.0845	10	0.66056	D	0.02	.	9.5788	0.39475	0.0:0.8258:0.0:0.1742	.	119	Q13606	OR5I1_HUMAN	P	119	ENSP00000301532:A119P	ENSP00000301532:A119P	A	-	1	0	OR5I1	55460098	0.000000	0.05858	0.242000	0.24170	0.021000	0.10359	1.005000	0.29834	0.601000	0.29879	-0.154000	0.13518	GCC		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		18	65	0	0	0	1	0	18	65				
H2AFY2	55506	broad.mit.edu	37	10	71868860	71868860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:71868860G>A	ENST00000373255.4	+	8	1114	c.850G>A	c.(850-852)Gac>Aac	p.D284N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	284	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GTGGGGCTCCGACAAATGTGA	0.567																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(850-852)Gac>Aac		H2A histone family, member Y2							90.0	84.0	86.0					10																	71868860		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71868860G>A	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.850G>A	10.37:g.71868860G>A	ENSP00000362352:p.Asp284Asn					AIFM2_ENST00000373248.1_Intron	p.D284N	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			8	1114	+			284			Macro.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.850G>A	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966961	0.92855	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.21543	2.0;2.0	6.03	6.03	0.97812	Appr-1-p processing (2);	0.093684	0.64402	D	0.000001	T	0.32941	0.0846	L	0.52905	1.665	0.80722	D	1	P	0.47545	0.897	P	0.47044	0.535	T	0.01378	-1.1370	10	0.72032	D	0.01	.	20.177	0.98182	0.0:0.0:1.0:0.0	.	284	Q9P0M6	H2AW_HUMAN	N	284;218;218	ENSP00000362352:D284N;ENSP00000404584:D218N	ENSP00000362352:D284N	D	+	1	0	H2AFY2	71538866	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.854000	0.98071	0.655000	0.94253	GAC		0.567	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		4	117	0	0	0	1	0	4	117				
ZNF658	26149	broad.mit.edu	37	9	40774408	40774408	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:40774408T>A	ENST00000602553.1	-	5	1161	c.867A>T	c.(865-867)aaA>aaT	p.K289N	ZNF658_ENST00000441795.1_Missense_Mutation_p.K287N|ZNF658_ENST00000377626.3_Missense_Mutation_p.K289N			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCATGTGAACTTTATTGTATT	0.403																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(865-867)aaA>aaT		zinc finger protein 658							76.0	77.0	77.0					9																	40774408		2203	4295	6498	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774408T>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.867A>T	9.37:g.40774408T>A	ENSP00000473484:p.Lys289Asn					ZNF658_ENST00000377626.3_Missense_Mutation_p.K289N|ZNF658_ENST00000441795.1_Missense_Mutation_p.K287N	p.K289N			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1161	-			289					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.867A>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	16.80	3.222543	0.58668	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.06068	3.54;3.35	2.15	-2.12	0.07165	.	.	.	.	.	T	0.06600	0.0169	L	0.39898	1.24	0.09310	N	1	D;P	0.58268	0.982;0.743	P;B	0.49361	0.608;0.356	T	0.20940	-1.0260	9	0.66056	D	0.02	.	0.7129	0.00927	0.1938:0.1376:0.1979:0.4707	.	289;289	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	N	287;289	ENSP00000408462:K287N;ENSP00000366853:K289N	ENSP00000366853:K289N	K	-	3	2	ZNF658	40764408	0.272000	0.24172	0.002000	0.10522	0.690000	0.40134	0.344000	0.19962	-0.476000	0.06842	0.321000	0.21382	AAA		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		69	265	0	0	0	1	0	69	265				
PLPPR5	163404	broad.mit.edu	37	1	99422205	99422205	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:99422205G>C	ENST00000263177.4	-	2	551	c.330C>G	c.(328-330)tgC>tgG	p.C110W	LPPR5_ENST00000370188.3_Missense_Mutation_p.C110W	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		110						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GGTTTATATAGCAACAGTCTC	0.363																																						ENST00000370188.3																			0											c.(328-330)tgC>tgG									72.0	76.0	74.0					1																	99422205		2202	4300	6502	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99422205G>C																												ENST00000263177.4:c.330C>G	1.37:g.99422205G>C	ENSP00000263177:p.Cys110Trp					LPPR5_ENST00000263177.4_Missense_Mutation_p.C110W	p.C110W	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			2	690	-			110					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.330C>G	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647148	0.47258	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.51325	0.71;0.71	4.74	2.84	0.33178	.	0.094755	0.85682	D	0.000000	T	0.57961	0.2089	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.63950	-0.6521	10	0.87932	D	0	.	9.5663	0.39400	0.2378:0.0:0.7622:0.0	.	110;110	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	W	110	ENSP00000359207:C110W;ENSP00000263177:C110W	ENSP00000263177:C110W	C	-	3	2	AL161744.1	99194793	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.680000	0.37607	1.126000	0.42016	-0.216000	0.12614	TGC		0.363	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			4	49	0	0	0	1	0	4	49				
PDCD11	22984	broad.mit.edu	37	10	105185171	105185171	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:105185171C>T	ENST00000369797.3	+	20	3288	c.3194C>T	c.(3193-3195)gCc>gTc	p.A1065V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1065	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGTATCCATGCCTCCCACATT	0.537																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3193-3195)gCc>gTc		programmed cell death 11							149.0	120.0	130.0					10																	105185171		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105185171C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3194C>T	10.37:g.105185171C>T	ENSP00000358812:p.Ala1065Val						p.A1065V	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	3288	+		Colorectal(252;0.0747)|Breast(234;0.128)	1065			S1 motif 9.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3194C>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885713	0.17540	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.46063	0.88	6.04	4.17	0.49024	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.166548	0.53938	N	0.000043	T	0.12689	0.0308	N	0.01076	-1.035	0.44908	D	0.997928	B	0.16396	0.017	B	0.15870	0.014	T	0.22243	-1.0222	10	0.02654	T	1	-13.2104	9.9286	0.41507	0.0:0.7943:0.0:0.2057	.	1065	Q14690	RRP5_HUMAN	V	1065	ENSP00000358812:A1065V	ENSP00000358812:A1065V	A	+	2	0	PDCD11	105175161	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.228000	0.42981	1.540000	0.49301	0.561000	0.74099	GCC		0.537	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			24	96	0	0	0	1	0	24	96				
IGKV1D-43	28891	broad.mit.edu	37	2	90249210	90249210	+	RNA	SNP	G	G	A	rs537963967		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:90249210G>A	ENST00000468879.1	+	0	347									immunoglobulin kappa variable 1D-43																		CAGTTATTTAGCCTGGTATCA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		16647	0.001		0.0	False		,,,				2504	0.0					ENST00000468879.1																			0																				142.0	145.0	144.0					2																	90249210		1881	4114	5995			28891							g.chr2:90249210G>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249210G>A														0	347	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.507	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		78	196	0	0	0	1	0	78	196				
OGN	4969	broad.mit.edu	37	9	95165608	95165608	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:95165608G>T	ENST00000262551.4	-	2	502	c.82C>A	c.(82-84)Cgc>Agc	p.R28S	OGN_ENST00000375561.5_Missense_Mutation_p.R28S|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	28					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TAGATAATGCGTGAGTCCTGC	0.378																																						ENST00000262551.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(82-84)Cgc>Agc		osteoglycin							89.0	89.0	89.0					9																	95165608		2203	4300	6503	SO:0001583	missense	4969					extracellular space|proteinaceous extracellular matrix	growth factor activity	g.chr9:95165608G>T	AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.82C>A	9.37:g.95165608G>T	ENSP00000262551:p.Arg28Ser					CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.R28S	p.R28S	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN			2	502	-			28					Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	37	c.82C>A	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622281	0.28889	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.59083	0.29;0.29;0.31	5.41	3.53	0.40419	.	0.472963	0.21322	N	0.076452	T	0.38401	0.1039	N	0.24115	0.695	0.23851	N	0.996663	B;B	0.23891	0.093;0.057	B;B	0.20184	0.028;0.013	T	0.15549	-1.0433	10	0.22109	T	0.4	.	8.532	0.33340	0.0816:0.1556:0.7629:0.0	.	86;28	B4DI63;P20774	.;MIME_HUMAN	S	28;28;86	ENSP00000262551:R28S;ENSP00000364711:R28S;ENSP00000396709:R86S	ENSP00000262551:R28S	R	-	1	0	OGN	94205429	0.092000	0.21681	0.832000	0.32986	0.975000	0.68041	0.649000	0.24843	1.398000	0.46701	0.655000	0.94253	CGC		0.378	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416		41	51	1	0	1.07121e-22	1	1.50624e-22	41	51				
IFI16	3428	broad.mit.edu	37	1	158990176	158990176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:158990176A>T	ENST00000295809.7	+	6	1273	c.1018A>T	c.(1018-1020)Aga>Tga	p.R340*	IFI16_ENST00000368132.3_Nonsense_Mutation_p.R340*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.R284*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.R340*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.R288*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.R340*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.R340*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	340	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAGGATGATAGAGGAAAAAT	0.353																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1018-1020)Aga>Tga		interferon, gamma-inducible protein 16							98.0	101.0	100.0					1																	158990176		2203	4300	6503	SO:0001587	stop_gained	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158990176A>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1018A>T	1.37:g.158990176A>T	ENSP00000295809:p.Arg340*					IFI16_ENST00000368131.4_Nonsense_Mutation_p.R340*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.R340*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.R288*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.R284*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.R340*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.R340*	p.R340*			Q16666	IF16_HUMAN			6	1273	+	all_hematologic(112;0.0429)		340			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	ENST00000295809.7	37	c.1018A>T		.	.	.	.	.	.	.	.	.	.	A	25.5	4.641325	0.87859	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.	.	.	2.64	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.999	0.24799	1.0:0.0:0.0:0.0	.	.	.	.	X	340;340;340;340;288	.	ENSP00000295809:R340X	R	+	1	2	IFI16	157256800	0.833000	0.29383	0.042000	0.18584	0.008000	0.06430	1.745000	0.38278	1.188000	0.43014	0.459000	0.35465	AGA		0.353	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		13	71	0	0	0	1	0	13	71				
AHNAK2	113146	broad.mit.edu	37	14	105410152	105410152	+	Missense_Mutation	SNP	T	T	C	rs201789836		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:105410152T>C	ENST00000333244.5	-	7	11755	c.11636A>G	c.(11635-11637)gAa>gGa	p.E3879G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3879						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCGGCTTCCTCGGGCAC	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11635-11637)gAa>gGa		AHNAK nucleoprotein 2							141.0	148.0	146.0					14																	105410152		1924	4141	6065	SO:0001583	missense	113146					nucleus		g.chr14:105410152T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11636A>G	14.37:g.105410152T>C	ENSP00000353114:p.Glu3879Gly					AHNAK2_ENST00000557457.1_Intron	p.E3879G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11755	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3879					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11636A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	7.959	0.746452	0.15710	.	.	ENSG00000185567	ENST00000333244	T	0.00525	6.81	4.09	-6.89	0.01660	.	.	.	.	.	T	0.00073	0.0002	N	0.00068	-2.285	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43015	-0.9417	9	0.23302	T	0.38	.	0.8021	0.01077	0.1933:0.2723:0.2764:0.258	.	3879	Q8IVF2	AHNK2_HUMAN	G	3879	ENSP00000353114:E3879G	ENSP00000353114:E3879G	E	-	2	0	AHNAK2	104481197	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.860000	0.00726	-1.046000	0.03246	-1.260000	0.01463	GAA		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		90	264	0	0	0	1	0	90	264				
PPFIA2	8499	broad.mit.edu	37	12	81751874	81751874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:81751874C>G	ENST00000549396.1	-	16	1920	c.1760G>C	c.(1759-1761)aGa>aCa	p.R587T	PPFIA2_ENST00000552948.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R569T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R434T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R513T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R569T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R587T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R154T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R488T	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	587					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGGCTCATCTCTTCGCACACC	0.378																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1759-1761)aGa>aCa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							52.0	50.0	51.0					12																	81751874		1845	4086	5931	SO:0001583	missense	8499							g.chr12:81751874C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1760G>C	12.37:g.81751874C>G	ENSP00000450337:p.Arg587Thr					PPFIA2_ENST00000550359.2_Missense_Mutation_p.R434T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R513T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R569T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R488T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R154T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R569T|PPFIA2_ENST00000545296.2_Intron	p.R587T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			15	2055	-			513					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1760G>C	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271695	0.80469	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.63861	0.2547	M	0.75085	2.285	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.65676	-0.6110	10	0.54805	T	0.06	-17.0894	19.1226	0.93369	0.0:1.0:0.0:0.0	.	587	O75334	LIPA2_HUMAN	T	587;569;154;513;598;569;587;488;587;168	ENSP00000450337:R587T;ENSP00000450298:R569T;ENSP00000438337:R154T;ENSP00000385093:R513T;ENSP00000327416:R569T;ENSP00000449338:R587T;ENSP00000388373:R488T;ENSP00000447868:R587T;ENSP00000448941:R168T	ENSP00000327416:R569T	R	-	2	0	PPFIA2	80276005	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.450000	0.60041	2.544000	0.85801	0.591000	0.81541	AGA		0.378	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			4	17	0	0	0	1	0	4	17				
NAV2	89797	broad.mit.edu	37	11	20066805	20066805	+	Missense_Mutation	SNP	G	G	T	rs553332023		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:20066805G>T	ENST00000396087.3	+	15	3659	c.3560G>T	c.(3559-3561)gGt>gTt	p.G1187V	NAV2_ENST00000527559.2_Missense_Mutation_p.G1116V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.G1118V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1164V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1100V|NAV2_ENST00000396085.1_Missense_Mutation_p.G1164V|NAV2_ENST00000533917.1_Missense_Mutation_p.G250V|NAV2_ENST00000311043.8_Missense_Mutation_p.G250V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1187					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGTCTGCTGGTCGGAAGTCA	0.577																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(3490-3492)gGt>gTt		neuron navigator 2							85.0	82.0	83.0					11																	20066805		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20066805G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3560G>T	11.37:g.20066805G>T	ENSP00000379396:p.Gly1187Val					NAV2_ENST00000533917.1_Missense_Mutation_p.G250V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1100V|NAV2_ENST00000311043.8_Missense_Mutation_p.G250V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1187V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.G1118V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1164V|NAV2_ENST00000527559.2_Missense_Mutation_p.G1116V	p.G1164V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			14	3852	+			1187					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3491G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503901	0.26949	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.69	4.76	0.60689	.	0.172860	0.40728	N	0.001023	T	0.28333	0.0700	L	0.46157	1.445	0.26742	N	0.970373	B;B;B;B;B	0.31548	0.259;0.034;0.328;0.052;0.161	B;B;B;B;B	0.24848	0.05;0.053;0.053;0.056;0.053	T	0.14671	-1.0464	9	.	.	.	.	10.2832	0.43552	0.0715:0.1471:0.7814:0.0	.	1187;250;250;1164;1100	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	V	1100;1164;1164;1187;1116;1118;250;250;250;250	ENSP00000353871:G1100V;ENSP00000379394:G1164V;ENSP00000309577:G1164V;ENSP00000379396:G1187V;ENSP00000435395:G1116V;ENSP00000443489:G1118V;ENSP00000437316:G250V;ENSP00000437136:G250V;ENSP00000312169:G250V	.	G	+	2	0	NAV2	20023381	1.000000	0.71417	0.143000	0.22291	0.660000	0.38997	4.554000	0.60760	1.358000	0.45922	0.650000	0.86243	GGT		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		14	62	1	0	6.31663e-08	1	7.23827e-08	14	62				
MS4A14	84689	broad.mit.edu	37	11	60164123	60164123	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:60164123T>A	ENST00000300187.6	+	1	349	c.72T>A	c.(70-72)acT>acA	p.T24T	MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Silent_p.T24T|MS4A14_ENST00000531783.1_Silent_p.T24T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	24						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGTATTGACTGCATTTCCCT	0.463																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(70-72)acT>acA		membrane-spanning 4-domains, subfamily A, member 14							126.0	99.0	108.0					11																	60164123		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60164123T>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.72T>A	11.37:g.60164123T>A						MS4A14_ENST00000531783.1_Silent_p.T24T|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Silent_p.T24T	p.T24T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			1	349	+			24					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.72T>A	CCDS31569.1																																																																																				0.463	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			15	47	0	0	0	1	0	15	47				
OR2T3	343173	broad.mit.edu	37	1	248636948	248636948	+	Silent	SNP	G	G	T	rs375370185		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248636948G>T	ENST00000359594.2	+	1	322	c.297G>T	c.(295-297)ccG>ccT	p.P99P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CCATTTCCCCGTCAGGCTGTG	0.547																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(295-297)ccG>ccT		olfactory receptor, family 2, subfamily T, member 3							90.0	80.0	83.0					1																	248636948		2189	4298	6487	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636948G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.297G>T	1.37:g.248636948G>T							p.P99P	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	322	+	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)		99					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.297G>T	CCDS31117.1																																																																																				0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		20	89	1	0	5.35356e-11	1	6.60477e-11	20	89				
PDAP1	11333	broad.mit.edu	37	7	98995534	98995534	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:98995534G>A	ENST00000350498.3	-	5	718	c.438C>T	c.(436-438)atC>atT	p.I146I	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	146					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGTTTCCGGATGATGGCCA	0.592																																						ENST00000350498.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9						c.(436-438)atC>atT		PDGFA associated protein 1	Becaplermin(DB00102)						92.0	89.0	90.0					7																	98995534		2203	4300	6503	SO:0001819	synonymous_variant	11333				cell proliferation|signal transduction			g.chr7:98995534G>A	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.438C>T	7.37:g.98995534G>A						PDAP1_ENST00000496335.1_5'UTR	p.I146I	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	718	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		146					D6W5S5|Q92906	Silent	SNP	ENST00000350498.3	37	c.438C>T	CCDS5662.1																																																																																				0.592	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		30	72	0	0	0	1	0	30	72				
CXCL9	4283	broad.mit.edu	37	4	76928538	76928538	+	Splice_Site	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:76928538C>T	ENST00000264888.5	-	1	103		c.e1+1		RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9						cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAACCCCTTACCTTGCACTCC	0.408																																						ENST00000264888.5																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11						c.e1+1		chemokine (C-X-C motif) ligand 9							154.0	153.0	153.0					4																	76928538		2203	4300	6503	SO:0001630	splice_region_variant	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76928538C>T	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.64+1G>A	4.37:g.76928538C>T								NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		1	103	-								Q503B4	Splice_Site	SNP	ENST00000264888.5	37		CCDS34014.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639734	0.47153	.	.	ENSG00000138755	ENST00000264888	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4281	0.67230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXCL9	77147562	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	3.276000	0.51646	2.861000	0.98227	0.655000	0.94253	.		0.408	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1		Intron	46	147	0	0	0	1	0	46	147				
RAP1GAP	5909	broad.mit.edu	37	1	21940560	21940560	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:21940560A>G	ENST00000374765.4	-	8	514	c.314T>C	c.(313-315)cTg>cCg	p.L105P	RAP1GAP_ENST00000290101.4_Missense_Mutation_p.L169P|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.L105P|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.L105P|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.L136P	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	105					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGCAGCGTCCAGTGAGTAGTA	0.597																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(313-315)cTg>cCg		RAP1 GTPase activating protein							73.0	63.0	66.0					1																	21940560		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21940560A>G	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.314T>C	1.37:g.21940560A>G	ENSP00000363897:p.Leu105Pro					RAP1GAP_ENST00000374761.2_Missense_Mutation_p.L136P|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.L105P|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.L105P|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.L169P|RAP1GAP_ENST00000374757.3_5'UTR	p.L105P	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	9	616	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	105					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.314T>C	CCDS218.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810016	0.70797	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	4.82	4.82	0.62117	.	0.339620	0.28772	N	0.014198	D	0.91250	0.7242	L	0.34521	1.04	0.80722	D	1	D;D;P;D	0.67145	0.996;0.977;0.954;0.977	P;P;B;P	0.52031	0.688;0.502;0.433;0.502	D	0.89978	0.4098	10	0.36615	T	0.2	-23.5945	11.11	0.48226	1.0:0.0:0.0:0.0	.	105;105;136;105	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	P	169;136;105;105;136;105;169;247	ENSP00000290101:L169P;ENSP00000363893:L136P;ENSP00000441661:L105P;ENSP00000363897:L105P;ENSP00000352739:L169P	ENSP00000290101:L169P	L	-	2	0	RAP1GAP	21813147	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.425000	0.66470	1.953000	0.56701	0.459000	0.35465	CTG		0.597	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		10	36	0	0	0	1	0	10	36				
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:21971036C>A	ENST00000304494.5	-	2	592	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R122L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(36)|Deletion - Frameshift(5)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(160)|urinary_tract(97)|bone(74)|upper_aerodigestive_tract(62)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM071585|CM973278	CDKN2A	M	rs121913381	c.(364-366)cGa>cTa		cyclin-dependent kinase inhibitor 2A							16.0	19.0	18.0					9																	21971036		2198	4292	6490	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971036C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.322G>T	9.37:g.21971036C>A	ENSP00000307101:p.Asp108Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y	p.R122L			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	657	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	138		G -> R (in CMM2).|G -> S (in a biliary tract tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.365G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308521|4.308521	0.81247|0.81247	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.94232|0.79845	-3.38;-3.38|-1.31;-1.25	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.84678|0.84678	0.5525|0.5525	L|L	0.29908|0.29908	0.895|0.895	0.47308|0.47308	D|D	0.999383|0.999383	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.67548	1.0|0.952	D|D	0.85416|0.85416	0.1140|0.1140	9|10	0.87932|0.62326	D|D	0|0.03	-14.8146|-14.8146	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|163	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	Y|L	108|163;122	ENSP00000307101:D108Y;ENSP00000394932:D108Y|ENSP00000355153:R163L;ENSP00000432664:R122L	ENSP00000307101:D108Y|ENSP00000355153:R163L	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961036|21961036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	5.136000|5.136000	0.64783|0.64783	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	23	1	0	0.0438628	1	0.0445546	18	23				
GAA	2548	broad.mit.edu	37	17	78086706	78086706	+	Silent	SNP	T	T	A	rs144090460		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:78086706T>A	ENST00000302262.3	+	14	2139	c.1920T>A	c.(1918-1920)ccT>ccA	p.P640P	GAA_ENST00000390015.3_Silent_p.P640P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	640					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TGGGGGTGCCTCTGGTCGGGG	0.642																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1918-1920)ccT>ccA		glucosidase, alpha; acid	Acarbose(DB00284)						16.0	20.0	19.0					17																	78086706		2202	4300	6502	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78086706T>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1920T>A	17.37:g.78086706T>A						GAA_ENST00000390015.3_Silent_p.P640P	p.P640P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		14	2139	+	all_neural(118;0.117)		640					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1920T>A	CCDS32760.1																																																																																				0.642	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			4	25	0	0	0	1	0	4	25				
CD163L1	283316	broad.mit.edu	37	12	7559177	7559177	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:7559177G>A	ENST00000313599.3	-	5	1095	c.1038C>T	c.(1036-1038)acC>acT	p.T346T	CD163L1_ENST00000396630.1_Silent_p.T346T|CD163L1_ENST00000416109.2_Silent_p.T356T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	346	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAAAATTGACGGTTCCGGAAT	0.423																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1036-1038)acC>acT		CD163 molecule-like 1							104.0	93.0	97.0					12																	7559177		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559177G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1038C>T	12.37:g.7559177G>A						CD163L1_ENST00000416109.2_Silent_p.T356T|CD163L1_ENST00000396630.1_Silent_p.T346T	p.T346T			Q9NR16	C163B_HUMAN			5	1095	-			346			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1038C>T	CCDS8577.1																																																																																				0.423	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		24	66	0	0	0	1	0	24	66				
RHOA	387	broad.mit.edu	37	3	49412914	49412914	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:49412914T>A	ENST00000418115.1	-	2	493	c.109A>T	c.(109-111)Aca>Tca	p.T37S	RHOA_ENST00000454011.2_Missense_Mutation_p.T37S|RHOA_ENST00000422781.1_Missense_Mutation_p.T37S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	37					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCAAACACTGTGGGCACATAC	0.438																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(109-111)Aca>Tca		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						156.0	145.0	149.0					3																	49412914		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412914T>A	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.109A>T	3.37:g.49412914T>A	ENSP00000400175:p.Thr37Ser					RHOA_ENST00000422781.1_Missense_Mutation_p.T37S|RHOA_ENST00000454011.2_Missense_Mutation_p.T37S	p.T37S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	493	-			37					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.109A>T	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	T	32	5.155898	0.94686	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.76574	2.34	0.80722	D	1	B	0.15719	0.014	B	0.32090	0.14	D	0.86459	0.1778	10	0.87932	D	0	.	15.1943	0.73075	0.0:0.0:0.0:1.0	.	37	P61586	RHOA_HUMAN	S	37	ENSP00000400175:T37S;ENSP00000394483:T37S;ENSP00000413587:T37S;ENSP00000408402:T37S;ENSP00000400747:T37S	ENSP00000400175:T37S	T	-	1	0	RHOA	49387918	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	7.905000	0.87416	2.266000	0.75297	0.456000	0.33151	ACA		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		49	85	0	0	0	1	0	49	85				
SLC30A10	55532	broad.mit.edu	37	1	220100382	220100382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:220100382G>C	ENST00000366926.3	-	2	867	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	236					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CTGATATTCAGAGCTTCAGAC	0.373																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(706-708)Ctg>Gtg		solute carrier family 30, member 10							171.0	159.0	163.0					1																	220100382		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220100382G>C	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.706C>G	1.37:g.220100382G>C	ENSP00000355893:p.Leu236Val					SLC30A10_ENST00000536446.1_5'UTR	p.L236V	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	2	867	-			236					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.706C>G	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677129	0.68042	.	.	ENSG00000196660	ENST00000366926	T	0.63744	-0.06	5.74	3.87	0.44632	.	0.300454	0.28742	N	0.014286	T	0.73265	0.3565	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.73004	-0.4119	9	.	.	.	-14.2277	10.503	0.44817	0.2076:0.0:0.7924:0.0	.	236	Q6XR72	ZNT10_HUMAN	V	236	ENSP00000355893:L236V	.	L	-	1	2	SLC30A10	218167005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.399000	0.34566	1.433000	0.47394	0.655000	0.94253	CTG		0.373	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		34	100	0	0	0	1	0	34	100				
ZIC1	7545	broad.mit.edu	37	3	147131305	147131305	+	Silent	SNP	G	G	T	rs564229372		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:147131305G>T	ENST00000282928.4	+	3	2040	c.1311G>T	c.(1309-1311)gcG>gcT	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1309-1311)gcG>gcT		Zic family member 1							97.0	89.0	92.0					3																	147131305		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131305G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1311G>T	3.37:g.147131305G>T							p.A437A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			3	2040	+			437			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1311G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	8.310	0.821911	0.16678	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.28	1.38	0.22167	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	7.1105	0.25388	0.0951:0.0:0.7362:0.1687	.	.	.	.	L	126	.	.	R	+	2	0	ZIC1	148613995	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.249000	0.51437	-0.041000	0.13558	-0.448000	0.05591	CGC		0.493	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		10	117	1	0	0.000673444	1	0.000701777	10	117				
DBH	1621	broad.mit.edu	37	9	136522343	136522343	+	Missense_Mutation	SNP	C	C	G	rs190637473	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:136522343C>G	ENST00000393056.2	+	11	1726	c.1714C>G	c.(1714-1716)Cgc>Ggc	p.R572G	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	572					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTCAGCCGTCCGCTTCCAGGT	0.632																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1714-1716)Cgc>Ggc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						87.0	73.0	78.0					9																	136522343		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136522343C>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1714C>G	9.37:g.136522343C>G	ENSP00000376776:p.Arg572Gly					DBH-AS1_ENST00000425189.1_RNA	p.R572G	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	11	1726	+			572					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1714C>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013668	0.35511	.	.	ENSG00000123454	ENST00000393056	T	0.51574	0.7	5.07	5.07	0.68467	.	0.266552	0.34338	N	0.004058	T	0.55878	0.1948	M	0.81942	2.565	0.80722	D	1	P	0.35807	0.522	B	0.40982	0.345	T	0.62671	-0.6805	10	0.66056	D	0.02	-7.0598	13.4244	0.61018	0.157:0.843:0.0:0.0	.	572	P09172	DOPO_HUMAN	G	572	ENSP00000376776:R572G	ENSP00000376776:R572G	R	+	1	0	DBH	135512164	0.739000	0.28196	0.993000	0.49108	0.041000	0.13682	1.311000	0.33562	2.362000	0.80069	0.491000	0.48974	CGC		0.632	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		19	70	0	0	0	1	0	19	70				
OR2T3	343173	broad.mit.edu	37	1	248636947	248636947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248636947C>G	ENST00000359594.2	+	1	321	c.296C>G	c.(295-297)cCg>cGg	p.P99R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P99L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ACCATTTCCCCGTCAGGCTGT	0.547																																						ENST00000359594.2																			1	Substitution - Missense(1)	p.P99L(1)	endometrium(1)	breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(295-297)cCg>cGg		olfactory receptor, family 2, subfamily T, member 3							86.0	76.0	79.0					1																	248636947		2189	4298	6487	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636947C>G		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.296C>G	1.37:g.248636947C>G	ENSP00000352604:p.Pro99Arg						p.P99R	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	321	+	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)		99					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.296C>G	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	1.983	-0.433591	0.04669	.	.	ENSG00000196539	ENST00000359594	T	0.00392	7.58	2.65	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.12887	0.27	0.09310	N	1	P	0.39216	0.664	B	0.36186	0.219	T	0.34976	-0.9807	9	0.46703	T	0.11	.	6.9554	0.24568	0.1145:0.2971:0.0:0.5884	.	99	Q8NH03	OR2T3_HUMAN	R	99	ENSP00000352604:P99R	ENSP00000352604:P99R	P	+	2	0	OR2T3	246703570	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.228000	0.00549	-1.943000	0.01039	-1.202000	0.01658	CCG		0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		18	89	0	0	0	1	0	18	89				
BMP15	9210	broad.mit.edu	37	X	50654065	50654065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:50654065G>A	ENST00000252677.3	+	1	282	c.282G>A	c.(280-282)atG>atA	p.M94I		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	94					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGGCCACCATGGTGAGGCTGG	0.587																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(280-282)atG>atA		bone morphogenetic protein 15							21.0	12.0	15.0					X																	50654065		2199	4288	6487	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50654065G>A	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.282G>A	X.37:g.50654065G>A	ENSP00000252677:p.Met94Ile						p.M94I	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			1	282	+	Ovarian(276;0.236)		94					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.282G>A	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	g	12.87	2.066604	0.36470	.	.	ENSG00000130385	ENST00000252677	D	0.82167	-1.58	5.59	2.69	0.31865	.	0.190775	0.56097	D	0.000034	T	0.74935	0.3782	M	0.73962	2.25	0.26468	N	0.975321	P	0.43231	0.801	B	0.31686	0.134	T	0.68823	-0.5307	10	0.42905	T	0.14	.	6.1339	0.20221	0.0943:0.0:0.5755:0.3302	.	94	O95972	BMP15_HUMAN	I	94	ENSP00000252677:M94I	ENSP00000252677:M94I	M	+	3	0	BMP15	50670805	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	1.094000	0.30951	1.111000	0.41721	0.513000	0.50165	ATG		0.587	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		3	4	0	0	0	1	0	3	4				
TAF1L	138474	broad.mit.edu	37	9	32630414	32630414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:32630414C>A	ENST00000242310.4	-	1	5253	c.5164G>T	c.(5164-5166)Ggg>Tgg	p.G1722W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1722					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATCATACCCTTCAACATCC	0.502																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(5164-5166)Ggg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							201.0	182.0	189.0					9																	32630414		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630414C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5164G>T	9.37:g.32630414C>A	ENSP00000418379:p.Gly1722Trp						p.G1722W	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5253	-			1722					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5164G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988062	0.35036	.	.	ENSG00000122728	ENST00000242310	T	0.08102	3.13	0.149	0.149	0.14863	.	.	.	.	.	T	0.07052	0.0179	N	0.14661	0.345	0.30546	N	0.765971	P	0.52463	0.953	P	0.49853	0.624	T	0.29971	-0.9994	9	0.72032	D	0.01	.	6.0152	0.19598	0.0:0.9995:0.0:5.0E-4	.	1722	Q8IZX4	TAF1L_HUMAN	W	1722	ENSP00000418379:G1722W	ENSP00000418379:G1722W	G	-	1	0	TAF1L	32620414	1.000000	0.71417	0.057000	0.19452	0.047000	0.14425	3.107000	0.50329	0.192000	0.20272	0.195000	0.17529	GGG		0.502	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			37	264	1	0	2.51541e-25	1	3.59983e-25	37	264				
FAM135B	51059	broad.mit.edu	37	8	139144920	139144920	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:139144920G>T	ENST00000395297.1	-	20	4307	c.4137C>A	c.(4135-4137)ggC>ggA	p.G1379G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGCGGCTCGGCCGATCAGGG	0.542										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4135-4137)ggC>ggA		family with sequence similarity 135, member B							193.0	204.0	201.0					8																	139144920		1976	4153	6129	SO:0001819	synonymous_variant	51059							g.chr8:139144920G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4137C>A	8.37:g.139144920G>T		HNSCC(54;0.14)					p.G1379G	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4307	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1379					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.4137C>A	CCDS6375.2																																																																																				0.542	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		70	330	1	0	1.43161e-34	1	2.08588e-34	70	330				
GIPC2	54810	broad.mit.edu	37	1	78546488	78546488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:78546488G>T	ENST00000370759.3	+	2	563	c.370G>T	c.(370-372)Gag>Tag	p.E124*	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	124	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTATAAATCTGAGGATTCACT	0.338																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.(370-372)Gag>Tag		GIPC PDZ domain containing family, member 2							105.0	106.0	106.0					1																	78546488		2203	4300	6503	SO:0001587	stop_gained	54810					cytoplasm		g.chr1:78546488G>T	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.370G>T	1.37:g.78546488G>T	ENSP00000359795:p.Glu124*					GIPC2_ENST00000476882.1_3'UTR	p.E124*	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			2	563	+			124			PDZ.		Q8IYD3|Q9NXS7	Nonsense_Mutation	SNP	ENST00000370759.3	37	c.370G>T	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282792	0.80692	.	.	ENSG00000137960	ENST00000370759	.	.	.	6.16	6.16	0.99307	.	0.046052	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.4952	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	124	.	ENSP00000359795:E124X	E	+	1	0	GIPC2	78319076	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.657000	0.83745	2.937000	0.99478	0.650000	0.86243	GAG		0.338	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		8	75	1	0	1.12685e-05	1	1.23417e-05	8	75				
ABCC9	10060	broad.mit.edu	37	12	21997758	21997758	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:21997758G>C	ENST00000261201.4	-	25	3187	c.3188C>G	c.(3187-3189)aCa>aGa	p.T1063R	ABCC9_ENST00000345162.2_Missense_Mutation_p.T1027R|ABCC9_ENST00000261200.4_Missense_Mutation_p.T1063R|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1063	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTGGCAGCTGTGAGACCCAT	0.408																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3187-3189)aCa>aGa		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						157.0	157.0	157.0					12																	21997758		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997758G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3188C>G	12.37:g.21997758G>C	ENSP00000261201:p.Thr1063Arg					RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.T1063R|ABCC9_ENST00000345162.2_Missense_Mutation_p.T1027R	p.T1063R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			25	3187	-			1063			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3188C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	9.866	1.197760	0.22037	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.281655	0.38111	N	0.001819	T	0.61702	0.2368	N	0.00289	-1.7	0.46437	D	0.999046	B;B	0.17465	0.0;0.022	B;B	0.15484	0.004;0.013	T	0.64824	-0.6316	10	0.17369	T	0.5	-12.6443	14.4445	0.67340	0.0:0.0:0.8528:0.1472	.	1063;1063	O60706;O60706-2	ABCC9_HUMAN;.	R	1063;690;1063;1027	ENSP00000261200:T1063R;ENSP00000440521:T690R;ENSP00000261201:T1063R;ENSP00000261202:T1027R	ENSP00000261200:T1063R	T	-	2	0	ABCC9	21889025	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.287000	0.65645	2.623000	0.88846	0.650000	0.86243	ACA		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		30	88	0	0	0	1	0	30	88				
OR2M7	391196	broad.mit.edu	37	1	248487018	248487018	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248487018G>T	ENST00000317965.2	-	1	881	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	285						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(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGAGGATTCAGCATGGGAGTG	0.438																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(853-855)Ctg>Atg		olfactory receptor, family 2, subfamily M, member 7							102.0	95.0	97.0					1																	248487018		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487018G>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.853C>A	1.37:g.248487018G>T	ENSP00000324557:p.Leu285Met						p.L285M	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	881	-	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)		285					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.853C>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	8.121	0.781007	0.16120	.	.	ENSG00000177186	ENST00000317965	T	0.49432	0.78	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.69922	0.3165	M	0.88181	2.935	0.22017	N	0.999418	D	0.67145	0.996	D	0.69824	0.966	T	0.59005	-0.7535	9	0.72032	D	0.01	.	10.9428	0.47283	0.0:0.0:1.0:0.0	.	285	Q8NG81	OR2M7_HUMAN	M	285	ENSP00000324557:L285M	ENSP00000324557:L285M	L	-	1	2	OR2M7	246553641	0.156000	0.22821	0.668000	0.29813	0.034000	0.12701	0.492000	0.22435	0.850000	0.35239	0.194000	0.17425	CTG		0.438	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		31	78	1	0	1.08312e-15	1	1.41774e-15	31	78				
LRFN5	145581	broad.mit.edu	37	14	42361025	42361025	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:42361025C>A	ENST00000298119.4	+	4	3147	c.1958C>A	c.(1957-1959)aCa>aAa	p.T653K	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	653						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGCCAAGTACAGAACCACAG	0.483										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1957-1959)aCa>aAa		leucine rich repeat and fibronectin type III domain containing 5							102.0	82.0	89.0					14																	42361025		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42361025C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1958C>A	14.37:g.42361025C>A	ENSP00000298119:p.Thr653Lys	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.T653K	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3147	+			653					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1958C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899361	0.33535	.	.	ENSG00000165379	ENST00000298119	T	0.42900	0.96	5.9	4.94	0.65067	.	0.565038	0.16766	N	0.200425	T	0.17916	0.0430	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17961	-1.0352	10	0.06625	T	0.88	.	6.2711	0.20955	0.2236:0.6838:0.0:0.0926	.	653	Q96NI6	LRFN5_HUMAN	K	653	ENSP00000298119:T653K	ENSP00000298119:T653K	T	+	2	0	LRFN5	41430775	0.012000	0.17670	0.915000	0.36163	0.839000	0.47603	1.030000	0.30153	2.808000	0.96608	0.650000	0.86243	ACA		0.483	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		7	23	1	0	2.0095e-06	1	2.24673e-06	7	23				
PGBD2	267002	broad.mit.edu	37	1	249211400	249211400	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:249211400A>T	ENST00000329291.5	+	3	764	c.617A>T	c.(616-618)gAt>gTt	p.D206V	PGBD2_ENST00000539153.1_Missense_Mutation_p.D203V|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	206										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCTCTCCCGATTCACATCAT	0.398																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(607-609)gAt>gTt		piggyBac transposable element derived 2							135.0	138.0	137.0					1																	249211400		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249211400A>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.617A>T	1.37:g.249211400A>T	ENSP00000331643:p.Asp206Val					PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.D206V|PGBD2_ENST00000462488.1_Intron	p.D203V			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	863	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	206					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.608A>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288748	0.59976	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.16457	2.34;2.34	4.04	4.04	0.47022	.	0.199680	0.24483	N	0.038124	T	0.35682	0.0940	M	0.74881	2.28	0.45366	D	0.998356	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.15350	-1.0440	10	0.16896	T	0.51	-39.526	9.5734	0.39442	1.0:0.0:0.0:0.0	.	203;206	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	V	206;203	ENSP00000331643:D206V;ENSP00000439950:D203V	ENSP00000331643:D206V	D	+	2	0	PGBD2	247178023	1.000000	0.71417	0.961000	0.40146	0.973000	0.67179	2.338000	0.43957	1.820000	0.53075	0.533000	0.62120	GAT		0.398	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			40	134	0	0	0	1	0	40	134				
TTPA	7274	broad.mit.edu	37	8	63978645	63978645	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:63978645G>T	ENST00000260116.4	-	3	401	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	124	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAAACTTTGGGGTCCCAGTGT	0.343																																						ENST00000260116.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(370-372)Ccc>Acc		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						48.0	45.0	46.0					8																	63978645		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63978645G>T	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.370C>A	8.37:g.63978645G>T	ENSP00000260116:p.Pro124Thr					TTPA_ENST00000521138.1_Intron	p.P124T	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN			3	401	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	124			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.370C>A	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732570	0.69189	.	.	ENSG00000137561	ENST00000260116	T	0.75050	-0.9	5.54	4.67	0.58626	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.098297	0.64402	D	0.000001	D	0.84343	0.5451	M	0.75777	2.31	0.58432	D	0.999999	D	0.54772	0.968	D	0.69142	0.962	D	0.84122	0.0407	10	0.39692	T	0.17	.	14.0233	0.64571	0.0723:0.0:0.9277:0.0	.	124	P49638	TTPA_HUMAN	T	124	ENSP00000260116:P124T	ENSP00000260116:P124T	P	-	1	0	TTPA	64141199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.976000	0.70484	1.338000	0.45544	0.655000	0.94253	CCC		0.343	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		15	42	1	0	6.72482e-11	1	8.26486e-11	15	42				
RP9	6100	broad.mit.edu	37	7	33134957	33134957	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:33134957G>A	ENST00000297157.3	-	6	572	c.555C>T	c.(553-555)caC>caT	p.H185H		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	185	Lys-rich.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			tctttttcttGTGTTTCTCTT	0.363																																						ENST00000297157.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(553-555)caC>caT		retinitis pigmentosa 9 (autosomal dominant)							30.0	32.0	31.0					7																	33134957		2199	4297	6496	SO:0001819	synonymous_variant	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33134957G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.555C>T	7.37:g.33134957G>A							p.H185H	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		6	572	-			185			Lys-rich.			Silent	SNP	ENST00000297157.3	37	c.555C>T	CCDS5440.1																																																																																				0.363	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		18	91	0	0	0	1	0	18	91				
CABIN1	23523	broad.mit.edu	37	22	24567837	24567837	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr22:24567837G>T	ENST00000398319.2	+	34	6299	c.5914G>T	c.(5914-5916)Gcc>Tcc	p.A1972S	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.A397S|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1893S|CABIN1_ENST00000263119.5_Missense_Mutation_p.A1972S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1972					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCACTAGCTGCCGCCACAAC	0.632																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5914-5916)Gcc>Tcc		calcineurin binding protein 1							108.0	98.0	101.0					22																	24567837		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24567837G>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5914G>T	22.37:g.24567837G>T	ENSP00000381364:p.Ala1972Ser					CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.A397S|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1893S|CABIN1_ENST00000263119.5_Missense_Mutation_p.A1972S	p.A1972S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			34	6299	+			1972					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.5914G>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	1.968	-0.437255	0.04636	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;D	0.86097	2.14;2.14;2.14;-2.07	4.29	-0.502	0.12004	.	0.617757	0.16508	N	0.211377	T	0.63757	0.2538	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.001;0.018	B;B	0.19391	0.004;0.025	T	0.51012	-0.8759	10	0.07482	T	0.82	.	7.8008	0.29174	0.5334:0.0:0.4666:0.0	.	1893;1972	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	S	1972;1893;1972;397;396	ENSP00000263119:A1972S;ENSP00000384694:A1893S;ENSP00000381364:A1972S;ENSP00000336991:A397S	ENSP00000263119:A1972S	A	+	1	0	CABIN1	22897837	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.290000	0.02777	-0.092000	0.12417	-0.145000	0.13849	GCC		0.632	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		19	47	1	0	6.94344e-10	1	8.25014e-10	19	47				
NALCN	259232	broad.mit.edu	37	13	101844358	101844358	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:101844358G>C	ENST00000251127.6	-	14	1755	c.1674C>G	c.(1672-1674)gaC>gaG	p.D558E	NALCN_ENST00000376196.3_Missense_Mutation_p.D558E|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	558					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTCCATTACGTCCACCCATC	0.448																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1672-1674)gaC>gaG		sodium leak channel, non-selective							151.0	109.0	123.0					13																	101844358		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101844358G>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1674C>G	13.37:g.101844358G>C	ENSP00000251127:p.Asp558Glu					NALCN_ENST00000376196.3_Missense_Mutation_p.D558E|NALCN_ENST00000470333.1_5'UTR	p.D558E	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			14	1755	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		558					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1674C>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552274	0.27739	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98937	-5.25;-5.25	5.48	-1.72	0.08107	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93284	0.7860	N	0.04880	-0.145	0.80722	D	1	P;P;B	0.35908	0.527;0.475;0.343	B;B;B	0.40741	0.339;0.128;0.141	D	0.87483	0.2422	10	0.02654	T	1	.	12.661	0.56813	0.6776:0.0:0.3224:0.0	.	558;558;558	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	E	558	ENSP00000251127:D558E;ENSP00000365367:D558E	ENSP00000251127:D558E	D	-	3	2	NALCN	100642359	0.978000	0.34361	0.874000	0.34290	0.993000	0.82548	0.264000	0.18497	-0.364000	0.08088	-0.143000	0.13931	GAC		0.448	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		11	47	0	0	0	1	0	11	47				
DEF6	50619	broad.mit.edu	37	6	35287469	35287469	+	Splice_Site	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:35287469T>A	ENST00000316637.5	+	8	1387		c.e8+2		DEF6_ENST00000542066.1_Splice_Site	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)							cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TCAGACCAGGTAGGCCTGAGG	0.577																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.e8+2		differentially expressed in FDCP 6 homolog (mouse)							58.0	59.0	59.0					6																	35287469		2203	4300	6503	SO:0001630	splice_region_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35287469T>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1382+2T>A	6.37:g.35287469T>A						DEF6_ENST00000542066.1_Splice_Site		NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			8	1387	+								Q86VF4	Splice_Site	SNP	ENST00000316637.5	37		CCDS4802.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493031	0.84962	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3353	0.74247	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEF6	35395447	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.737000	0.84957	2.198000	0.70561	0.460000	0.39030	.		0.577	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047	Intron	14	49	0	0	0	1	0	14	49				
HERC2P3	283755	broad.mit.edu	37	15	20657715	20657715	+	RNA	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:20657715G>A	ENST00000428453.1	-	0	2243							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGCATGCTGAGCATCACCA	0.602																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															43.0	38.0	40.0					15																	20657715		2095	4185	6280			283755							g.chr15:20657715G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657715G>A														0	2243	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.602	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	18	0	0	0	1	0	6	18				
CCIN	881	broad.mit.edu	37	9	36170588	36170588	+	Silent	SNP	C	C	T	rs147398180		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:36170588C>T	ENST00000335119.2	+	1	1200	c.1089C>T	c.(1087-1089)atC>atT	p.I363I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	363					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACCTGCCCATCGGGCTTGTCT	0.567																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1087-1089)atC>atT		calicin		C		1,4405	2.1+/-5.4	0,1,2202	128.0	113.0	118.0		1089	-1.3	1.0	9	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	CCIN	NM_005893.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		363/589	36170588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170588C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1089C>T	9.37:g.36170588C>T							p.I363I	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1200	+			363					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1089C>T	CCDS6599.1																																																																																				0.567	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		40	148	0	0	0	1	0	40	148				
EFTUD2	9343	broad.mit.edu	37	17	42971853	42971853	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:42971853T>C	ENST00000426333.2	-	2	334	c.37A>G	c.(37-39)Att>Gtt	p.I13V	EFTUD2_ENST00000591382.1_Missense_Mutation_p.I13V|EFTUD2_ENST00000589211.1_5'Flank|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I13V|EFTUD2_ENST00000402521.3_Intron	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	13					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCTGGTCCAATATAATTCCCA	0.368																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(37-39)Att>Gtt		elongation factor Tu GTP binding domain containing 2							159.0	147.0	151.0					17																	42971853		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42971853T>C	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.37A>G	17.37:g.42971853T>C	ENSP00000392094:p.Ile13Val					EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I13V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I13V	p.I13V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			2	334	-		Prostate(33;0.109)	13					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.37A>G	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592080	0.66219	.	.	ENSG00000108883	ENST00000426333;ENST00000262414	T	0.75704	-0.96	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	M	0.67625	2.065	0.58432	D	0.999999	B;B	0.20988	0.05;0.05	B;B	0.29598	0.104;0.078	T	0.72663	-0.4225	10	0.51188	T	0.08	.	13.4008	0.60881	0.0:0.0:0.0:1.0	.	13;13	B4DMC0;Q15029	.;U5S1_HUMAN	V	13	ENSP00000392094:I13V	ENSP00000262414:I13V	I	-	1	0	EFTUD2	40327379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.500000	0.66943	1.983000	0.57843	0.454000	0.30748	ATT		0.368	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		42	107	0	0	0	1	0	42	107				
SAMD15	161394	broad.mit.edu	37	14	77844481	77844481	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:77844481T>A	ENST00000216471.4	+	1	1006	c.720T>A	c.(718-720)acT>acA	p.T240T	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	240										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AACCAGAGACTCCAGAGGAGA	0.468																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(718-720)acT>acA		sterile alpha motif domain containing 15							74.0	81.0	79.0					14																	77844481		2203	4299	6502	SO:0001819	synonymous_variant	161394							g.chr14:77844481T>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.720T>A	14.37:g.77844481T>A						SAMD15_ENST00000533095.2_Intron	p.T240T	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			1	1006	+			240					Q2M3P3	Silent	SNP	ENST00000216471.4	37	c.720T>A	CCDS32126.1																																																																																				0.468	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		30	60	0	0	0	1	0	30	60				
LPHN3	23284	broad.mit.edu	37	4	62894575	62894575	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:62894575A>T	ENST00000514591.1	+	21	3523	c.3194A>T	c.(3193-3195)tAt>tTt	p.Y1065F	LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000512091.2_Missense_Mutation_p.Y1065F|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000507164.1_Intron			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1049					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCTTTAGCTATGAGGATAAC	0.388																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3193-3195)tAt>tTt		latrophilin 3							142.0	131.0	134.0					4																	62894575		1869	4103	5972	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62894575A>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3194A>T	4.37:g.62894575A>T	ENSP00000422533:p.Tyr1065Phe					LPHN3_ENST00000545650.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1133F	p.Y1065F			Q9HAR2	LPHN3_HUMAN			21	3941	+			1049					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3194A>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255324	0.22965	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000545650;ENST00000280009;ENST00000508693;ENST00000504896;ENST00000508946;ENST00000506720	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	6.02	6.02	0.97574	.	.	.	.	.	T	0.25195	0.0612	N	0.12961	0.28	0.37614	D	0.921057	B;B	0.17038	0.012;0.02	B;B	0.19666	0.026;0.019	T	0.20371	-1.0277	9	0.10111	T	0.7	.	12.2459	0.54571	0.8728:0.0:0.0:0.1272	.	1065;1065	E9PE04;Q9HAR2-2	.;.	F	1065;1065;1133;1065;1065;1133;1065;1065;1133	ENSP00000423388:Y1065F;ENSP00000422533:Y1065F;ENSP00000423787:Y1133F;ENSP00000439831:Y1065F;ENSP00000424030:Y1133F;ENSP00000423434:Y1065F;ENSP00000421627:Y1065F;ENSP00000420931:Y1133F	ENSP00000280009:Y1065F	Y	+	2	0	LPHN3	62577170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.932000	0.70121	2.319000	0.78375	0.524000	0.50904	TAT		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			6	22	0	0	0	1	0	6	22				
ZNF550	162972	broad.mit.edu	37	19	58058921	58058921	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:58058921A>G	ENST00000457177.1	-	4	871	c.691T>C	c.(691-693)Tat>Cat	p.Y231H	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Y190H|ZNF550_ENST00000325134.5_Missense_Mutation_p.Y199H|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGCATTCATAGGGTTTCATT	0.488																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(595-597)Tat>Cat		zinc finger protein 550							164.0	125.0	138.0					19																	58058921		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058921A>G	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.691T>C	19.37:g.58058921A>G	ENSP00000469679:p.Tyr231His					ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Y190H|ZNF550_ENST00000457177.1_Missense_Mutation_p.Y231H|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	p.Y199H			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	751	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	231					B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.595T>C		.	.	.	.	.	.	.	.	.	.	A	16.21	3.058046	0.55325	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.21734	1.99;1.99	3.61	2.55	0.30701	.	.	.	.	.	T	0.24967	0.0606	L	0.31752	0.955	0.23572	N	0.99738	P	0.47604	0.898	P	0.54759	0.76	T	0.07947	-1.0746	9	0.87932	D	0	-22.2546	7.4257	0.27098	0.8055:0.0:0.0:0.1944	.	199	Q7Z398-2	.	H	231;199;190	ENSP00000446224:Y199H;ENSP00000422344:Y190H	ENSP00000446224:Y199H	Y	-	1	0	AC003682.1	62750733	0.033000	0.19621	0.405000	0.26409	0.758000	0.43043	3.206000	0.51098	0.532000	0.28657	0.533000	0.62120	TAT		0.488	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		30	107	0	0	0	1	0	30	107				
ABL1	25	broad.mit.edu	37	9	133738189	133738189	+	Nonsense_Mutation	SNP	G	G	T	rs150134901	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:133738189G>T	ENST00000318560.5	+	4	970	c.589G>T	c.(589-591)Gag>Tag	p.E197*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CACCCTGGCCGAGTTGGTTCA	0.572			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(589-591)Gag>Tag		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						86.0	69.0	75.0					9																	133738189		2203	4300	6503	SO:0001587	stop_gained	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133738189G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.589G>T	9.37:g.133738189G>T	ENSP00000323315:p.Glu197*						p.E197*	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	4	970	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	197			SH2.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	c.589G>T	CCDS35166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.625006|9.625006	0.99223|0.99223	.|.	.|.	ENSG00000097007|ENSG00000097007	ENST00000372348;ENST00000318560|ENST00000444970	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81039	.|0.4740	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79952	.|-0.1586	.|4	0.51188|0.51188	T|T	0.08|0.08	.|.	19.6124|19.6124	0.95613|0.95613	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	216;197|13	.|.	ENSP00000323315:E197X|ENSP00000400412:R13L	E|R	+|+	1|2	0|0	ABL1|ABL1	132728010|132728010	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.914000|0.914000	0.54420|0.54420	9.812000|9.812000	0.99227|0.99227	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.572	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		42	64	1	0	6.2361e-21	1	8.69275e-21	42	64				
C2CD3	26005	broad.mit.edu	37	11	73789342	73789342	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:73789342T>A	ENST00000334126.7	-	23	4647	c.4421A>T	c.(4420-4422)gAa>gTa	p.E1474V	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1474V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1474					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTGGTGACTTCTGCTCTTTT	0.478																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(4420-4422)gAa>gTa		C2 calcium-dependent domain containing 3							128.0	114.0	119.0					11																	73789342		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789342T>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4421A>T	11.37:g.73789342T>A	ENSP00000334379:p.Glu1474Val					C2CD3_ENST00000313663.7_Missense_Mutation_p.E1474V	p.E1474V			Q4AC94	C2CD3_HUMAN			23	4647	-	Breast(11;4.16e-06)		1474					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4421A>T		.	.	.	.	.	.	.	.	.	.	T	12.87	2.068590	0.36470	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.87491	-2.26;-2.26;-2.26	5.35	4.23	0.50019	.	0.293840	0.36234	N	0.002715	D	0.83243	0.5212	L	0.40543	1.245	0.29764	N	0.835312	P	0.51933	0.949	P	0.51701	0.677	T	0.75682	-0.3233	10	0.13853	T	0.58	-11.1454	7.2808	0.26310	0.0:0.0779:0.147:0.7752	.	1474	Q4AC94-1	.	V	1474;1474;1455;282	ENSP00000334379:E1474V;ENSP00000323339:E1474V;ENSP00000388750:E282V	ENSP00000323339:E1474V	E	-	2	0	C2CD3	73466990	0.792000	0.28813	0.999000	0.59377	0.994000	0.84299	2.063000	0.41423	2.025000	0.59659	0.528000	0.53228	GAA		0.478	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		43	102	0	0	0	1	0	43	102				
ZNF598	90850	broad.mit.edu	37	16	2052219	2052219	+	Missense_Mutation	SNP	G	G	A	rs371695156		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:2052219G>A	ENST00000563630.1	-	5	960	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	ZNF598_ENST00000431526.1_Missense_Mutation_p.R295C|ZNF598_ENST00000562103.1_Missense_Mutation_p.R240C			Q86UK7	ZN598_HUMAN	zinc finger protein 598	295							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCGTTCCGGCGCGAGTGCCGT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		17591	0.0		0.0	False		,,,				2504	0.001					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(718-720)Cgc>Tgc		zinc finger protein 598		G	CYS/ARG	2,4336		0,2,2167	27.0	32.0	31.0		885	4.7	0.9	16		31	0,8492		0,0,4246	no	missense	ZNF598	NM_178167.2	180	0,2,6413	AA,AG,GG		0.0,0.0461,0.0156	probably-damaging	295/905	2052219	2,12828	2169	4246	6415	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2052219G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.718C>T	16.37:g.2052219G>A	ENSP00000455882:p.Arg240Cys					ZNF598_ENST00000431526.1_Missense_Mutation_p.R295C|ZNF598_ENST00000562103.1_Missense_Mutation_p.R240C	p.R240C			Q86UK7	ZN598_HUMAN			5	960	-			295					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.718C>T		.	.	.	.	.	.	.	.	.	.	.	14.39	2.521307	0.44866	4.61E-4	0.0	ENSG00000167962	ENST00000431526	T	0.14266	2.52	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.07214	-1.0784	10	0.72032	D	0.01	-29.5137	13.2904	0.60269	0.0:0.0:0.8413:0.1587	.	295	Q86UK7	ZN598_HUMAN	C	295	ENSP00000411409:R295C	ENSP00000411409:R295C	R	-	1	0	ZNF598	1992220	0.995000	0.38212	0.878000	0.34440	0.307000	0.27823	2.241000	0.43097	2.156000	0.67533	0.462000	0.41574	CGC		0.692	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		4	49	0	0	0	1	0	4	49				
ZNF479	90827	broad.mit.edu	37	7	57188487	57188487	+	Missense_Mutation	SNP	G	G	T	rs551129651		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:57188487G>T	ENST00000331162.4	-	5	905	c.635C>A	c.(634-636)tCc>tAc	p.S212Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCATTTGTAGGACTTCTCCCT	0.333																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(634-636)tCc>tAc		zinc finger protein 479							13.0	13.0	13.0					7																	57188487		1802	4040	5842	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188487G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.635C>A	7.37:g.57188487G>T	ENSP00000333776:p.Ser212Tyr						p.S212Y	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	905	-			212						Missense_Mutation	SNP	ENST00000331162.4	37	c.635C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	2.418	-0.333820	0.05278	.	.	ENSG00000185177	ENST00000331162	T	0.36878	1.23	1.16	-2.31	0.06765	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	M	0.66439	2.03	0.09310	N	1	B	0.13145	0.007	B	0.17433	0.018	T	0.41215	-0.9521	9	0.66056	D	0.02	.	4.0289	0.09700	0.0:0.2423:0.516:0.2416	.	212	Q96JC4	ZN479_HUMAN	Y	212	ENSP00000333776:S212Y	ENSP00000333776:S212Y	S	-	2	0	ZNF479	57192429	0.083000	0.21467	0.000000	0.03702	0.006000	0.05464	0.711000	0.25764	-0.341000	0.08376	0.400000	0.26472	TCC		0.333	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		6	35	1	0	0.00198382	1	0.00205399	6	35				
CATSPER4	378807	broad.mit.edu	37	1	26524778	26524778	+	Splice_Site	DEL	T	T	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.680delT	c.(679-681)gtt>gt	p.V227fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.e6-1		cation channel, sperm associated 4							297.0	312.0	307.0					1																	26524778		2203	4300	6503	SO:0001630	splice_region_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524778delT	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.679-1T>-	1.37:g.26524778delT							p.V227_splice	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	747	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	227					A1A4W6|Q5VY71	Splice_Site	DEL	ENST00000456354.2	37	c.678_splice	CCDS30645.1																																																																																				0.488	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	Frame_Shift_Del	7	630						7	630	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210571	143210572	+	lincRNA	DEL	AC	AC	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:143210571_143210572delAC	ENST00000412204.2	-	0	498_499				RP11-782C8.1_ENST00000438000.1_lincRNA																							ATAAAAGTAAACACACACACAC	0.297																																						ENST00000412204.2																			0																																																			0							g.chr1:143210571_143210572delAC																													1.37:g.143210581_143210582delAC						RP11-782C8.1_ENST00000438000.1_lincRNA								0	498_499	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.297	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			2	4						2	4	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211192448	211192448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:211192448delA	ENST00000271751.4	-	6	736	c.709delT	c.(709-711)tatfs	p.Y237fs	KCNH1_ENST00000367007.4_Frame_Shift_Del_p.Y237fs			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	237					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAGACATTATAAGGGACCAAG	0.413																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(709-711)atfs		potassium voltage-gated channel, subfamily H (eag-related), member 1							99.0	94.0	95.0					1																	211192448		2203	4300	6503	SO:0001589	frameshift_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192448delA	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.709delT	1.37:g.211192448delA	ENSP00000271751:p.Tyr237fs					KCNH1_ENST00000271751.4_Frame_Shift_Del_p.Y237fs	p.Y237fs	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	878	-			237					B1AQ26|O76035|Q14CL3	Frame_Shift_Del	DEL	ENST00000271751.4	37	c.709delT	CCDS1496.1																																																																																				0.413	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		21	65						21	65	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229783323	229783323	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:229783323G>T	ENST00000258243.2	+	7	4109	c.3973G>T	c.(3973-3975)Gtc>Ttc	p.V1325F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1325						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGTCTTAGATGTCCTGGCTGC	0.542																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3973-3975)Gtc>Ttc		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							78.0	71.0	73.0					1																	229783323		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229783323G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3973G>T	1.37:g.229783323G>T	ENSP00000258243:p.Val1325Phe						p.V1325F	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			7	4109	+			1325					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3973G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.248019	0.22880	.	.	ENSG00000135763	ENST00000258243	T	0.46063	0.88	5.58	2.08	0.27032	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.559615	0.19401	N	0.115179	T	0.40322	0.1112	L	0.47716	1.5	0.09310	N	1	P	0.51147	0.942	P	0.50490	0.642	T	0.14227	-1.0480	9	.	.	.	-17.924	6.4025	0.21646	0.2429:0.1593:0.5978:0.0	.	1325	Q14146	URB2_HUMAN	F	1325	ENSP00000258243:V1325F	.	V	+	1	0	URB2	227849946	0.004000	0.15560	0.358000	0.25811	0.071000	0.16799	0.289000	0.18957	0.670000	0.31165	0.561000	0.74099	GTC		0.542	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		24	82	1	0	1.64293e-13	1	2.08277e-13	24	82				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	6						3	6	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55976567	55976568	+	Splice_Site	DEL	CA	CA	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:55976567_55976568delCA	ENST00000263923.4	-	9	1551		c.e9+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAATGGACTCACCATACACAA	0.441			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.e9+1		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001630	splice_region_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55976567_55976568delCA	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1255+1TG>-	4.37:g.55976567_55976568delCA		TSP Lung(20;0.16)						NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		9	1551	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)							A2RRS0|B5A925|C5IFA0|O60723|Q14178	Splice_Site	DEL	ENST00000263923.4	37		CCDS3497.1																																																																																				0.441	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Intron	18	74						18	74	---	---	---	---
CTSO	1519	broad.mit.edu	37	4	156849502	156849502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:156849502delC	ENST00000433477.3	-	7	986	c.917delG	c.(916-918)ggafs	p.G306fs		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	314					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AACATTACTTCCCATTTTGAC	0.348																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(916-918)gafs		cathepsin O							113.0	105.0	108.0					4																	156849502		2203	4300	6503	SO:0001589	frameshift_variant	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156849502delC	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.917delG	4.37:g.156849502delC	ENSP00000414904:p.Gly306fs						p.G306fs	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	7	986	-	all_hematologic(180;0.24)	Renal(120;0.0458)	306					Q6FHS6	Frame_Shift_Del	DEL	ENST00000433477.3	37	c.917delG	CCDS3794.1																																																																																				0.348	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		19	106						19	106	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		5	8						5	8	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962523	135962524	+	RNA	INS	-	-	C	rs149568113	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:135962523_135962524insC	ENST00000411440.2	+	0	1030_1031					NR_001275.2				carboxyl ester lipase pseudogene																		TGACTCTGAGGCTCCCCCGTAC	0.663													CC|C|CC|deletion	184	0.0367412	0.0514	0.0159	5008	,	,		13619	0.0823		0.007	False		,,,				2504	0.0153					ENST00000411440.2																			0																																																			1057							g.chr9:135962523_135962524insC	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962524_135962524dupC								NR_001275.2						0	1030_1031	+									RNA	INS	ENST00000411440.2	37																																																																																						0.663	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		3	4						3	4	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		9	122						9	122	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22035798	22035798	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:22035798delT	ENST00000261201.4	-	14	1920	c.1921delA	c.(1921-1923)actfs	p.T641fs	ABCC9_ENST00000345162.2_Intron|ABCC9_ENST00000261200.4_Frame_Shift_Del_p.T641fs|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	641					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGTTTATAGTTTTTGGCTGC	0.408																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1921-1923)ctfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						153.0	121.0	131.0					12																	22035798		2203	4300	6503	SO:0001589	frameshift_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22035798delT	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1921delA	12.37:g.22035798delT	ENSP00000261201:p.Thr641fs					RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Frame_Shift_Del_p.T641fs|ABCC9_ENST00000345162.2_Intron	p.T641fs	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			14	1920	-			641					O60707	Frame_Shift_Del	DEL	ENST00000261201.4	37	c.1921delA	CCDS8694.1																																																																																				0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	320						7	320	---	---	---	---
SLC10A2	6555	broad.mit.edu	37	13	103703645	103703645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:103703645delC	ENST00000245312.3	-	4	1319	c.723delG	c.(721-723)gggfs	p.G241fs		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	241					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CCAGAAGAAACCCCAGGGAGT	0.428																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(721-723)ggfs		solute carrier family 10 (sodium/bile acid cotransporter), member 2							74.0	77.0	76.0					13																	103703645		2203	4300	6503	SO:0001589	frameshift_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103703645delC	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.723delG	13.37:g.103703645delC	ENSP00000245312:p.Gly241fs						p.G241fs	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			4	1319	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		241					A1L4F4|Q13839	Frame_Shift_Del	DEL	ENST00000245312.3	37	c.723delG	CCDS9506.1																																																																																				0.428	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			10	83						10	83	---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114322049	114322049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:114322049delC	ENST00000335678.6	+	1	580	c.348delC	c.(346-348)gacfs	p.D116fs		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	116	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AGTACCTGGACCCCCAGGCCA	0.607																																						ENST00000335678.6																			0				ovary(2)	2						c.(346-348)gafs		G protein-coupled receptor kinase 1							41.0	45.0	44.0					13																	114322049		2000	4146	6146	SO:0001589	frameshift_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114322049delC			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.348delC	13.37:g.114322049delC	ENSP00000334876:p.Asp116fs						p.D116fs	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		1	580	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	116			N-terminal.|RGS.		Q53X14	Frame_Shift_Del	DEL	ENST00000335678.6	37	c.348delC																																																																																					0.607	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		16	41						16	41	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36351851	36351859	+	In_Frame_Del	DEL	GGACGTGGG	GGACGTGGG	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:36351851_36351859delGGACGTGGG	ENST00000360202.5	+	8	1167_1175	c.969_977delGGACGTGGG	c.(967-978)gtggacgtgggg>gtg	p.DVG324del	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_In_Frame_Del_p.DVG324del|KIRREL2_ENST00000347900.6_In_Frame_Del_p.DVG274del|KIRREL2_ENST00000262625.7_In_Frame_Del_p.DVG324del	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	324	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGTGTCCGTGGACGTGGGGGAAGACGCT	0.66																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(967-978)gtg>gt		kin of IRRE like 2 (Drosophila)																																				SO:0001651	inframe_deletion	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351851_36351859delGGACGTGGG	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.969_977delGGACGTGGG	19.37:g.36351851_36351859delGGACGTGGG	ENSP00000353331:p.Asp324_Gly326del					KIRREL2_ENST00000592409.1_In_Frame_Del_p.VDVG323del|KIRREL2_ENST00000586102.2_In_Frame_Del_p.VDVG303del|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_In_Frame_Del_p.VDVG273del|KIRREL2_ENST00000262625.7_In_Frame_Del_p.VDVG323del	p.VDVG323del	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1167_1175	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		323			Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	In_Frame_Del	DEL	ENST00000360202.5	37	c.969_977delGGACGTGGG	CCDS12481.1																																																																																				0.660	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		9	44						9	44	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581415	17581434	+	Frame_Shift_Del	DEL	TCGCATTTTTTATGACATGA	TCGCATTTTTTATGACATGA	-	rs373259291|rs149992120		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:17581415_17581434delTCGCATTTTTTATGACATGA	ENST00000246069.7	+	2	382_401	c.36_55delTCGCATTTTTTATGACATGA	c.(34-57)tgtcgcattttttatgacatgaaafs	p.CRIFYDMK12fs	DSTN_ENST00000474024.1_Start_Codon_Del	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	12	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						ATGAAGTATGTCGCATTTTTTATGACATGAAAGTTCGTAA	0.341																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(34-57)tgaafs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581415_17581434delTCGCATTTTTTATGACATGA	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.36_55delTCGCATTTTTTATGACATGA	20.37:g.17581415_17581434delTCGCATTTTTTATGACATGA	ENSP00000246069:p.Cys12fs					DSTN_ENST00000543261.1_Start_Codon_Del|DSTN_ENST00000474024.1_3'UTR	p.CRIFYDMK12fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	382_401	+			12			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Del	DEL	ENST00000246069.7	37	c.36_55delTCGCATTTTTTATGACATGA	CCDS13127.1																																																																																				0.341	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		13	37						13	37	---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41201809	41201809	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:41201809delT	ENST00000399959.2	+	5	1201	c.346delT	c.(346-348)tttfs	p.F116fs	DDX3X_ENST00000457138.2_Frame_Shift_Del_p.F100fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Frame_Shift_Del_p.F160fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	116	Interaction with GSK3B.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGAAGTGGCTTTGGCAAATT	0.448										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(346-348)ttfs		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							109.0	107.0	107.0					X																	41201809		2198	4300	6498	SO:0001589	frameshift_variant	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41201809delT	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.346delT	X.37:g.41201809delT	ENSP00000382840:p.Phe116fs	HNSCC(61;0.18)				DDX3X_ENST00000542215.1_Frame_Shift_Del_p.F160fs|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.F100fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	p.F116fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			5	1201	+			116					A8K538|B4E3E8|O15536	Frame_Shift_Del	DEL	ENST00000399959.2	37	c.346delT	CCDS43931.1																																																																																				0.448	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		27	41						27	41	---	---	---	---
