#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
ARHGAP4	393	broad.mit.edu	37	X	153184449	153184449	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:153184449G>T	ENST00000350060.5	-	7	910	c.869C>A	c.(868-870)gCt>gAt	p.A290D	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A269D|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.A330D|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A267D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	290					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGGCTCTCAGCGGCCGTGTA	0.642																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(988-990)gCt>gAt		Rho GTPase activating protein 4							44.0	42.0	43.0					X																	153184449		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184449G>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.869C>A	X.37:g.153184449G>T	ENSP00000203786:p.Ala290Asp					ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A290D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A267D|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A269D	p.A330D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			8	1046	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		290					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.989C>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557100	0.45590	.	.	ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.89	4.89	0.63831	.	0.000000	0.40728	N	0.001040	T	0.69833	0.3155	M	0.73962	2.25	0.33895	D	0.63778	D;D	0.67145	0.996;0.996	P;P	0.61722	0.893;0.893	T	0.81286	-0.1001	10	0.72032	D	0.01	.	16.1674	0.81777	0.0:0.0:1.0:0.0	.	330;290	Q86UY3;P98171	.;RHG04_HUMAN	D	330;290;269;267;65	ENSP00000359045:A330D;ENSP00000203786:A290D;ENSP00000359033:A269D;ENSP00000444169:A267D;ENSP00000398019:A65D	ENSP00000203786:A290D	A	-	2	0	ARHGAP4	152837643	1.000000	0.71417	0.374000	0.26016	0.032000	0.12392	4.276000	0.58933	2.155000	0.67459	0.525000	0.51046	GCT		0.642	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		7	39	1	0	0.00198382	1	0.00214126	7	39				
IGKV1-8	28942	broad.mit.edu	37	2	89292054	89292054	+	RNA	SNP	A	A	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:89292054A>C	ENST00000495489.1	-	0	271									immunoglobulin kappa variable 1-8																		CACTTTGCAAAGTGGATGCAG	0.493																																						ENST00000495489.1																			0																				133.0	129.0	130.0					2																	89292054		1860	4081	5941			28942							g.chr2:89292054A>C	Z00014		2p11.2	2012-02-10			ENSG00000240671	ENSG00000240671		"""Immunoglobulins / IGK locus"""	5743	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV18, L9			OTTHUMG00000151634		2.37:g.89292054A>C														0	271	-									RNA	SNP	ENST00000495489.1	37																																																																																						0.493	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323358.1	NG_000834		6	254	0	0	0	1	0	6	254				
SLC25A2	83884	broad.mit.edu	37	5	140683125	140683125	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:140683125T>G	ENST00000239451.4	-	1	487	c.308A>C	c.(307-309)aAg>aCg	p.K103T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	103					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ATCACTCAGCTTTGCCTGCTT	0.577																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(307-309)aAg>aCg		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						85.0	88.0	87.0					5																	140683125		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683125T>G	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.308A>C	5.37:g.140683125T>G	ENSP00000239451:p.Lys103Thr						p.K103T	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	487	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	103					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.308A>C	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	T	9.106	1.005304	0.19199	.	.	ENSG00000120329	ENST00000239451	T	0.78595	-1.19	3.78	2.58	0.30949	Mitochondrial carrier domain (2);	0.513912	0.20317	U	0.094705	T	0.65821	0.2728	L	0.33668	1.02	0.26490	N	0.974959	B	0.27264	0.173	B	0.33121	0.158	T	0.52909	-0.8512	10	0.20519	T	0.43	-7.8779	8.7058	0.34354	0.0:0.0:0.1925:0.8075	.	103	Q9BXI2	ORNT2_HUMAN	T	103	ENSP00000239451:K103T	ENSP00000239451:K103T	K	-	2	0	SLC25A2	140663309	1.000000	0.71417	0.679000	0.29978	0.482000	0.33219	1.553000	0.36255	0.786000	0.33708	0.528000	0.53228	AAG		0.577	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		8	115	0	0	0	1	0	8	115				
ADCY8	114	broad.mit.edu	37	8	132052065	132052065	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:132052065C>A	ENST00000286355.5	-	1	2607	c.515G>T	c.(514-516)cGc>cTc	p.R172L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R172L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	172					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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R172H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAGAAATAGCGCTGGTAGAG	0.532										HNSCC(32;0.087)																												ENST00000286355.5																			1	Substitution - Missense(1)	p.R172H(1)	upper_aerodigestive_tract(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(514-516)cGc>cTc		adenylate cyclase 8 (brain)							73.0	73.0	73.0					8																	132052065		2203	4300	6503	SO:0001583	missense	114				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 membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132052065C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.515G>T	8.37:g.132052065C>A	ENSP00000286355:p.Arg172Leu	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R172L	p.R172L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2607	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		172						Missense_Mutation	SNP	ENST00000286355.5	37	c.515G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595768	0.46318	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.64260	-0.09;-0.09	5.26	5.26	0.73747	.	0.068091	0.64402	D	0.000009	T	0.54287	0.1849	L	0.41824	1.3	0.44985	D	0.998006	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.48658	-0.9016	10	0.20519	T	0.43	.	17.8484	0.88737	0.0:1.0:0.0:0.0	.	172;172	E7EVL1;P40145	.;ADCY8_HUMAN	L	172	ENSP00000286355:R172L;ENSP00000367161:R172L	ENSP00000286355:R172L	R	-	2	0	ADCY8	132121247	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.997000	0.49457	2.474000	0.83562	0.462000	0.41574	CGC		0.532	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			15	75	1	0	9.16793e-09	1	1.17626e-08	15	75				
PRB2	653247	broad.mit.edu	37	12	11546867	11546867	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:11546867C>A	ENST00000389362.4	-	3	180	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	49						extracellular region (GO:0005576)		p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GATGGGGGACCTTGAGGTTTG	0.552																																						ENST00000389362.4																			2	Unknown(1)|Deletion - In frame(1)	p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)	stomach(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(145-147)Ggt>Tgt		proline-rich protein BstNI subfamily 2							128.0	144.0	138.0					12																	11546867		2159	4282	6441	SO:0001583	missense	653247							g.chr12:11546867C>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.145G>T	12.37:g.11546867C>A	ENSP00000374013:p.Gly49Cys					PRB1_ENST00000546254.1_Intron	p.G49C	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	180	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.145G>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	7.022	0.558881	0.13436	.	.	ENSG00000121335	ENST00000389362	T	0.05139	3.49	1.71	-2.54	0.06307	.	.	.	.	.	T	0.03390	0.0098	L	0.29908	0.895	0.09310	N	1	P	0.36974	0.576	B	0.27380	0.079	T	0.35624	-0.9781	9	0.62326	D	0.03	.	2.9183	0.05760	0.2152:0.4676:0.0:0.3173	.	49	P02812	PRB2_HUMAN	C	49	ENSP00000374013:G49C	ENSP00000374013:G49C	G	-	1	0	PRB2	11438134	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.561000	0.05957	-0.448000	0.07128	-0.661000	0.03856	GGT		0.552	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		27	278	1	0	4.06085e-26	1	5.41447e-26	27	278				
UBR4	23352	broad.mit.edu	37	1	19420579	19420579	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:19420579T>C	ENST00000375254.3	-	95	13828	c.13801A>G	c.(13801-13803)Atc>Gtc	p.I4601V	UBR4_ENST00000375267.2_Missense_Mutation_p.I4601V|UBR4_ENST00000375226.2_Missense_Mutation_p.I4577V|UBR4_ENST00000375217.2_Missense_Mutation_p.I4594V|UBR4_ENST00000375224.1_Missense_Mutation_p.I308V|UBR4_ENST00000429347.2_Missense_Mutation_p.I124V|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Missense_Mutation_p.I265V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4601					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTGCTGTTGATCTGGTCCAAG	0.517																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(13801-13803)Atc>Gtc		ubiquitin protein ligase E3 component n-recognin 4							108.0	86.0	93.0					1																	19420579		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19420579T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13801A>G	1.37:g.19420579T>C	ENSP00000364403:p.Ile4601Val					UBR4_ENST00000375254.3_Missense_Mutation_p.I4601V|UBR4_ENST00000375224.1_Missense_Mutation_p.I308V|UBR4_ENST00000375217.2_Missense_Mutation_p.I4594V|UBR4_ENST00000543981.1_Missense_Mutation_p.I265V|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000429347.2_Missense_Mutation_p.I124V|UBR4_ENST00000375226.2_Missense_Mutation_p.I4577V	p.I4601V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	95	13804	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4601					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.13801A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018204	0.75275	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	N	0.25426	0.745	0.80722	D	1	P;P;P;P	0.40032	0.699;0.699;0.699;0.65	P;P;P;P	0.58130	0.768;0.768;0.833;0.658	T	0.11966	-1.0566	10	0.18710	T	0.47	.	15.1014	0.72279	0.0:0.0:0.0:1.0	.	265;124;4601;4577	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	V	4601;4601;4594;4577;308;124;265	ENSP00000364403:I4601V;ENSP00000364416:I4601V;ENSP00000364365:I4594V;ENSP00000364374:I4577V;ENSP00000364372:I308V;ENSP00000394173:I124V;ENSP00000444070:I265V	ENSP00000364365:I4594V	I	-	1	0	UBR4	19293166	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.442000	0.80503	2.247000	0.74100	0.482000	0.46254	ATC		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		7	31	0	0	0	1	0	7	31				
ST6GALNAC6	30815	broad.mit.edu	37	9	130658593	130658593	+	Silent	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr9:130658593C>A	ENST00000373146.1	-	3	224	c.45G>T	c.(43-45)ctG>ctT	p.L15L	ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Silent_p.L15L|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.L15L			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	15					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCCTGGGGGCAGGGATGTGG	0.567																																						ENST00000373146.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(43-45)ctG>ctT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6							133.0	128.0	130.0					9																	130658593		2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130658593C>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.45G>T	9.37:g.130658593C>A						ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Silent_p.L15L|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.L15L	p.L15L			Q969X2	SIA7F_HUMAN			3	224	-			15					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.45G>T	CCDS6882.1																																																																																				0.567	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		4	71	1	0	0.014758	1	0.0152052	4	71				
MCL1	4170	broad.mit.edu	37	1	150550932	150550932	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:150550932C>G	ENST00000369026.2	-	2	783	c.724G>C	c.(724-726)Gat>Cat	p.D242H	MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	242					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GATTTCACATCGTCTTCGTTT	0.493																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(724-726)Gat>Cat		myeloid cell leukemia sequence 1 (BCL2-related)							95.0	99.0	98.0					1																	150550932		2203	4300	6503	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150550932C>G	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.724G>C	1.37:g.150550932C>G	ENSP00000358022:p.Asp242His					MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	p.D242H	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	783	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		242					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.724G>C	CCDS957.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577619	0.86645	.	.	ENSG00000143384	ENST00000369026;ENST00000439749	T	0.04706	3.57	5.01	4.1	0.47936	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.162209	0.52532	D	0.000063	T	0.09642	0.0237	M	0.73962	2.25	0.80722	D	1	D	0.56968	0.978	P	0.58873	0.847	T	0.01208	-1.1418	10	0.66056	D	0.02	-11.2981	12.2564	0.54627	0.0:0.9176:0.0:0.0824	.	242	Q07820	MCL1_HUMAN	H	242;171	ENSP00000358022:D242H	ENSP00000358022:D242H	D	-	1	0	MCL1	148817556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.386000	0.52492	1.337000	0.45525	0.655000	0.94253	GAT		0.493	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		11	125	0	0	0	1	0	11	125				
OR2D3	120775	broad.mit.edu	37	11	6942471	6942471	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:6942471G>C	ENST00000317834.3	+	1	267	c.239G>C	c.(238-240)aGa>aCa	p.R80T		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	80						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(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTTTCTTAGAAATCTCTCC	0.408																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(238-240)aGa>aCa		olfactory receptor, family 2, subfamily D, member 3							116.0	115.0	115.0					11																	6942471		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942471G>C	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.239G>C	11.37:g.6942471G>C	ENSP00000320560:p.Arg80Thr						p.R80T	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	267	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	80					B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.239G>C	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.078281	0.00375	.	.	ENSG00000178358	ENST00000317834	T	0.01963	4.53	5.07	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.554004	0.16265	N	0.222066	T	0.01421	0.0046	N	0.11023	0.085	0.30786	N	0.741515	B	0.09022	0.002	B	0.09377	0.004	T	0.31724	-0.9933	10	0.13470	T	0.59	-5.9074	9.608	0.39645	0.1755:0.0:0.8245:0.0	.	80	Q8NGH3	OR2D3_HUMAN	T	80	ENSP00000320560:R80T	ENSP00000320560:R80T	R	+	2	0	OR2D3	6899047	0.000000	0.05858	0.997000	0.53966	0.089000	0.18198	-0.094000	0.11094	1.510000	0.48803	0.655000	0.94253	AGA		0.408	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		8	143	0	0	0	1	0	8	143				
SAMD3	154075	broad.mit.edu	37	6	130497046	130497046	+	Silent	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:130497046G>T	ENST00000368134.2	-	10	1370	c.762C>A	c.(760-762)ggC>ggA	p.G254G	SAMD3_ENST00000457563.2_Silent_p.G278G|SAMD3_ENST00000439090.2_Silent_p.G254G|SAMD3_ENST00000532763.1_Silent_p.G252G|SAMD3_ENST00000533296.1_5'Flank|SAMD3_ENST00000437477.2_Silent_p.G254G	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	254										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCCTTGTCTGGCCTCTTCGGT	0.353																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(754-756)ggC>ggA		sterile alpha motif domain containing 3							111.0	114.0	113.0					6																	130497046		2202	4300	6502	SO:0001819	synonymous_variant	154075							g.chr6:130497046G>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.762C>A	6.37:g.130497046G>T						SAMD3_ENST00000368134.2_Silent_p.G254G|SAMD3_ENST00000457563.2_Silent_p.G278G|SAMD3_ENST00000439090.2_Silent_p.G254G|SAMD3_ENST00000437477.2_Silent_p.G254G	p.G252G			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	885	-			254					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.756C>A	CCDS34539.1																																																																																				0.353	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		8	241	1	0	0.00307968	1	0.00329792	8	241				
BTNL8	79908	broad.mit.edu	37	5	180338426	180338426	+	Missense_Mutation	SNP	G	G	A	rs146970792	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:180338426G>A	ENST00000340184.4	+	3	691	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	BTNL8_ENST00000508408.1_Missense_Mutation_p.R162Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37Q|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000511704.1_Missense_Mutation_p.R46Q|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000231229.4_Missense_Mutation_p.R162Q|BTNL8_ENST00000505126.1_5'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	162	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTCCCCCGGCCCACAGCG	0.532													G|||	12	0.00239617	0.0091	0.0	5008	,	,		19239	0.0		0.0	False		,,,				2504	0.0					ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(484-486)cGg>cAg		butyrophilin-like 8		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,,GLN/ARG	41,4365	43.8+/-77.6	1,39,2163	153.0	166.0	161.0		485,137,485,110,,485	-0.4	0.0	5	dbSNP_134	161	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense,missense,missense,utr-5,missense	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	43,43,43,43,,43	1,40,6458	AA,AG,GG		0.0116,0.9305,0.3231	benign,benign,benign,benign,,benign	162/501,46/385,162/341,37/376,,162/348	180338426	42,12956	2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338426G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.485G>A	5.37:g.180338426G>A	ENSP00000342197:p.Arg162Gln					BTNL8_ENST00000508408.1_Missense_Mutation_p.R162Q|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R46Q|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37Q|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162Q	p.R162Q	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	719	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	162			Ig-like V-type 2.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.485G>A	CCDS43413.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	7.932	0.740791	0.15642	0.009305	1.16E-4	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	3.85	-0.397	0.12423	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01156	0.0038	N	0.01446	-0.86	0.09310	N	0.999995	B;B;B;B;B	0.25521	0.003;0.003;0.128;0.079;0.002	B;B;B;B;B	0.13407	0.001;0.002;0.009;0.005;0.001	T	0.44097	-0.9350	9	0.02654	T	1	.	6.6385	0.22897	0.6808:0.0:0.3192:0.0	.	37;46;162;162;162	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	Q	162;162;37;162;46	ENSP00000231229:R162Q;ENSP00000342197:R162Q;ENSP00000383543:R37Q;ENSP00000424585:R162Q;ENSP00000425207:R46Q	ENSP00000231229:R162Q	R	+	2	0	BTNL8	180271032	0.003000	0.15002	0.000000	0.03702	0.178000	0.23041	1.102000	0.31050	-0.246000	0.09611	0.195000	0.17529	CGG		0.532	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		5	315	0	0	0	1	0	5	315				
SESTD1	91404	broad.mit.edu	37	2	180008414	180008414	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:180008414C>A	ENST00000428443.3	-	9	1070	c.754G>T	c.(754-756)Gat>Tat	p.D252Y		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	252							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)			CGGAGTGAATCTAATAATTTC	0.458																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(754-756)Gat>Tat		SEC14 and spectrin domains 1							151.0	149.0	150.0					2																	180008414		2203	4300	6503	SO:0001583	missense	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.chr2:180008414C>A	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.754G>T	2.37:g.180008414C>A	ENSP00000415332:p.Asp252Tyr						p.D252Y	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)		9	1070	-			252					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.754G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944585	0.73672	.	.	ENSG00000187231	ENST00000428443	T	0.38077	1.16	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.33879	-0.9851	9	.	.	.	-22.9389	20.6593	0.99626	0.0:1.0:0.0:0.0	.	252	Q86VW0	SESD1_HUMAN	Y	252	ENSP00000415332:D252Y	.	D	-	1	0	SESTD1	179716659	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAT		0.458	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		12	127	1	0	6.40141e-05	1	7.3779e-05	12	127				
GPR1	2825	broad.mit.edu	37	2	207041566	207041566	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:207041566A>T	ENST00000407325.2	-	3	768	c.406T>A	c.(406-408)Tat>Aat	p.Y136N	GPR1_ENST00000437420.1_Missense_Mutation_p.Y136N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	136					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AAGTGGATATAGTGGTCCAGG	0.458																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(406-408)Tat>Aat		G protein-coupled receptor 1							116.0	109.0	111.0					2																	207041566		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041566A>T		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.406T>A	2.37:g.207041566A>T	ENSP00000384345:p.Tyr136Asn					GPR1_ENST00000437420.1_Missense_Mutation_p.Y136N	p.Y136N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	768	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	136					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.406T>A	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477835	0.84640	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96652	0.9482	10	0.59425	D	0.04	.	16.2311	0.82343	1.0:0.0:0.0:0.0	.	136	P46091	GPR1_HUMAN	N	136	ENSP00000384345:Y136N;ENSP00000397535:Y136N;ENSP00000414836:Y136N;ENSP00000391146:Y136N;ENSP00000414524:Y136N	ENSP00000384345:Y136N	Y	-	1	0	GPR1	206749811	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	9.181000	0.94874	2.234000	0.73211	0.528000	0.53228	TAT		0.458	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		5	83	0	0	0	1	0	5	83				
KANTR	102723508	broad.mit.edu	37	X	53171997	53171997	+	lincRNA	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:53171997G>A	ENST00000604849.1	+	0	560				AL139396.1_ENST00000578198.1_RNA																							CCACATGCTTGCAGTCCATTT	0.502																																						ENST00000604849.1																			0																																																			102723508							g.chrX:53171997G>A																													X.37:g.53171997G>A														0	560	+									RNA	SNP	ENST00000604849.1	37																																																																																						0.502	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			4	14	0	0	0	1	0	4	14				
HMCN1	83872	broad.mit.edu	37	1	186014918	186014918	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:186014918C>T	ENST00000271588.4	+	41	6632	c.6403C>T	c.(6403-6405)Ctt>Ttt	p.L2135F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2135F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2135	Ig-like C2-type 19.				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						CCCACCTACTCTTACTTGGTT	0.408																																						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.(6403-6405)Ctt>Ttt		hemicentin 1							140.0	128.0	132.0					1																	186014918		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186014918C>T	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.6403C>T	1.37:g.186014918C>T	ENSP00000271588:p.Leu2135Phe					HMCN1_ENST00000367492.2_Missense_Mutation_p.L2135F	p.L2135F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			41	6632	+			2135			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6403C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835190	0.71373	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.35	3.06	0.35304	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.48260	1.515	0.53005	D	0.999965	D	0.89917	1.0	D	0.87578	0.998	T	0.75382	-0.3337	10	0.66056	D	0.02	.	11.0672	0.47982	0.0:0.7621:0.0:0.2379	.	2135	Q96RW7	HMCN1_HUMAN	F	2135	ENSP00000271588:L2135F;ENSP00000356462:L2135F	ENSP00000271588:L2135F	L	+	1	0	HMCN1	184281541	0.992000	0.36948	0.990000	0.47175	0.972000	0.66771	2.961000	0.49168	1.187000	0.43000	0.650000	0.86243	CTT		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	85	0	0	0	1	0	4	85				
HSF5	124535	broad.mit.edu	37	17	56540312	56540312	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:56540312G>C	ENST00000323777.3	-	4	1482	c.1373C>G	c.(1372-1374)cCt>cGt	p.P458R		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	458					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATGTACTCAGGTGACTGTGG	0.483																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(1372-1374)cCt>cGt		heat shock transcription factor family member 5							228.0	201.0	210.0					17																	56540312		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56540312G>C	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1373C>G	17.37:g.56540312G>C	ENSP00000313243:p.Pro458Arg						p.P458R	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			4	1482	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		458					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.1373C>G	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724554	0.68959	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.71461	-0.57	5.57	5.57	0.84162	.	0.119179	0.40469	N	0.001097	T	0.70395	0.3219	N	0.19112	0.55	0.33555	D	0.596655	D	0.64830	0.994	P	0.56278	0.795	T	0.79536	-0.1763	10	0.87932	D	0	.	16.2733	0.82630	0.0:0.0:1.0:0.0	.	458	Q4G112	HSF5_HUMAN	R	358;458	ENSP00000313243:P458R	ENSP00000313243:P458R	P	-	2	0	HSF5	53895311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.077000	0.71275	2.632000	0.89209	0.650000	0.86243	CCT		0.483	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		7	187	0	0	0	1	0	7	187				
BAGE2	85319	broad.mit.edu	37	21	11097625	11097625	+	RNA	SNP	G	G	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr21:11097625G>C	ENST00000470054.1	-	0	244							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tggagcagctgggcagacaat	0.557																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							63.0	81.0	74.0					21																	11097625		1444	2597	4041			85319							g.chr21:11097625G>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097625G>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	244	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.557	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	83	0	0	0	1	0	5	83				
EXOC6	54536	broad.mit.edu	37	10	94675516	94675516	+	Splice_Site	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr10:94675516C>T	ENST00000260762.6	+	7	679	c.665C>T	c.(664-666)gCa>gTa	p.A222V	EXOC6_ENST00000371547.4_Splice_Site_p.A238V|EXOC6_ENST00000371552.4_Splice_Site_p.A217V|EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000443748.2_Splice_Site_p.A222V	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	222					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TCAAAATAGGCACAGCATCAG	0.279																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.e7-1		exocyst complex component 6							46.0	51.0	49.0					10																	94675516		2197	4294	6491	SO:0001630	splice_region_variant	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94675516C>T	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.664-1C>T	10.37:g.94675516C>T						EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000260762.6_Splice_Site_p.A222_splice|EXOC6_ENST00000371547.4_Splice_Site_p.A238_splice|EXOC6_ENST00000443748.2_Splice_Site_p.A222_splice	p.A217_splice	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			7	679	+		Colorectal(252;0.123)	222					E9PHI3|Q5VXH8|Q9NZ24	Splice_Site	SNP	ENST00000260762.6	37	c.648_splice	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196322	0.58126	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.95	4.95	0.65309	.	0.051899	0.85682	D	0.000000	T	0.35189	0.0923	M	0.65975	2.015	0.26848	N	0.968231	B;P;B;B;B	0.51057	0.08;0.941;0.038;0.079;0.038	B;B;B;B;B	0.41374	0.074;0.355;0.02;0.027;0.013	T	0.40627	-0.9553	10	0.48119	T	0.1	-7.0054	16.7293	0.85431	0.0:1.0:0.0:0.0	.	238;222;214;222;217	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	V	238;217;222;222	ENSP00000360602:A238V;ENSP00000360607:A217V;ENSP00000396206:A222V;ENSP00000260762:A222V	ENSP00000260762:A222V	A	+	2	0	EXOC6	94665496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.453000	0.82957	0.655000	0.94253	GCA		0.279	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	Missense_Mutation	12	69	0	0	0	1	0	12	69				
LRRIQ4	344657	broad.mit.edu	37	3	169540081	169540081	+	Silent	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:169540081G>A	ENST00000340806.6	+	1	372	c.372G>A	c.(370-372)cgG>cgA	p.R124R		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	124										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCGAGCTCCGGCTCTACCAGA	0.582																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(370-372)cgG>cgA		leucine-rich repeats and IQ motif containing 4							53.0	58.0	56.0					3																	169540081		2069	4200	6269	SO:0001819	synonymous_variant	344657							g.chr3:169540081G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.372G>A	3.37:g.169540081G>A							p.R124R	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	372	+			124						Silent	SNP	ENST00000340806.6	37	c.372G>A	CCDS46951.1																																																																																				0.582	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		8	65	0	0	0	1	0	8	65				
MMP13	4322	broad.mit.edu	37	11	102825259	102825259	+	Missense_Mutation	SNP	C	C	T	rs368343121		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:102825259C>T	ENST00000260302.3	-	3	467	c.439G>A	c.(439-441)Gat>Aat	p.D147N	MMP13_ENST00000340273.4_Missense_Mutation_p.D147N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	147				D -> G (in Ref. 3; BAF84900). {ECO:0000305}.	bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GGAGTTACATCGGACCAAACT	0.353																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(439-441)Gat>Aat		matrix metallopeptidase 13 (collagenase 3)		C	ASN/ASP	1,4403	2.1+/-5.4	0,1,2201	73.0	74.0	73.0		439	4.0	1.0	11		73	0,8598		0,0,4299	no	missense	MMP13	NM_002427.3	23	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	147/472	102825259	1,13001	2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102825259C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.439G>A	11.37:g.102825259C>T	ENSP00000260302:p.Asp147Asn					MMP13_ENST00000340273.4_Missense_Mutation_p.D147N	p.D147N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	467	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	147					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.439G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	8.691	0.907447	0.17833	2.27E-4	0.0	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.51574	0.7;0.7	5.9	4.04	0.47022	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.300881	0.40908	D	0.000996	T	0.35068	0.0919	L	0.37466	1.105	0.42707	D	0.993631	B	0.09022	0.002	B	0.17098	0.017	T	0.12760	-1.0535	10	0.12766	T	0.61	.	11.9162	0.52767	0.0:0.8607:0.0:0.1393	.	147	P45452	MMP13_HUMAN	N	147	ENSP00000260302:D147N;ENSP00000339672:D147N	ENSP00000260302:D147N	D	-	1	0	MMP13	102330469	0.652000	0.27349	0.986000	0.45419	0.161000	0.22273	1.271000	0.33098	1.510000	0.48803	0.591000	0.81541	GAT		0.353	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		5	74	0	0	0	1	0	5	74				
L3MBTL4	91133	broad.mit.edu	37	18	6215775	6215775	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr18:6215775C>T	ENST00000284898.6	-	11	1044	c.844G>A	c.(844-846)Gca>Aca	p.A282T	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.A282T|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A282T|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A95T|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A282T	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	282					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCAGGAACTGCATTGGTTTGA	0.343																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(844-846)Gca>Aca		l(3)mbt-like 4 (Drosophila)							60.0	61.0	61.0					18																	6215775		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6215775C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.844G>A	18.37:g.6215775C>T	ENSP00000284898:p.Ala282Thr					L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A95T|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A282T|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A282T|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.A282T	p.A282T			Q8NA19	LMBL4_HUMAN			11	1044	-		Colorectal(10;0.0249)	282					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.844G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392749	0.42410	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.3	2.49	0.30216	.	0.269957	0.29760	N	0.011262	T	0.31544	0.0800	L	0.43598	1.365	0.33454	D	0.584067	B;P	0.39520	0.339;0.676	B;B	0.36989	0.054;0.238	T	0.46610	-0.9179	10	0.56958	D	0.05	.	7.9303	0.29899	0.0:0.7228:0.0:0.2772	.	282;282	Q8NA19;F8W9S8	LMBL4_HUMAN;.	T	282;282;282;95;282	ENSP00000382976:A282T;ENSP00000318543:A282T;ENSP00000284898:A282T;ENSP00000444774:A95T;ENSP00000382975:A282T	ENSP00000284898:A282T	A	-	1	0	L3MBTL4	6205775	0.295000	0.24389	0.753000	0.31225	0.946000	0.59487	0.586000	0.23894	0.732000	0.32470	0.655000	0.94253	GCA		0.343	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		8	86	0	0	0	1	0	8	86				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	196	0	0	0	1	0	5	196				
LRP1	4035	broad.mit.edu	37	12	57598229	57598229	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:57598229A>G	ENST00000243077.3	+	71	11454	c.10988A>G	c.(10987-10989)aAc>aGc	p.N3663S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3663	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGTGCAACAACACCTTGTGC	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10987-10989)aAc>aGc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						86.0	82.0	83.0					12																	57598229		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598229A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10988A>G	12.37:g.57598229A>G	ENSP00000243077:p.Asn3663Ser						p.N3663S	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	71	11454	+			3663			LDL-receptor class A 29.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10988A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986855	0.74589	.	.	ENSG00000123384	ENST00000243077	D	0.87887	-2.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	L	0.41961	1.31	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.85532	0.1210	10	0.10902	T	0.67	.	14.308	0.66397	1.0:0.0:0.0:0.0	.	3663	Q07954	LRP1_HUMAN	S	3663	ENSP00000243077:N3663S	ENSP00000243077:N3663S	N	+	2	0	LRP1	55884496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.207000	0.71202	0.456000	0.33151	AAC		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	50	0	0	0	1	0	8	50				
TTN	7273	broad.mit.edu	37	2	179628974	179628974	+	Silent	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:179628974G>A	ENST00000591111.1	-	43	10268	c.10044C>T	c.(10042-10044)atC>atT	p.I3348I	TTN_ENST00000342175.6_Silent_p.I3302I|TTN_ENST00000342992.6_Silent_p.I3348I|TTN_ENST00000359218.5_Silent_p.I3302I|TTN_ENST00000460472.2_Silent_p.I3302I|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Silent_p.I3348I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.I3348I|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13664	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGCGGGGTGATGATGGCAG	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10042-10044)atC>atT		titin							86.0	83.0	84.0					2																	179628974		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179628974G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10044C>T	2.37:g.179628974G>A						TTN_ENST00000342992.6_Silent_p.I3348I|TTN_ENST00000460472.2_Silent_p.I3302I|TTN_ENST00000591111.1_Silent_p.I3348I|TTN_ENST00000342175.6_Silent_p.I3302I|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.I3348I|TTN_ENST00000359218.5_Silent_p.I3302I|TTN-AS1_ENST00000585451.1_RNA	p.I3348I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		43	10268	-			3063			Ig-like 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10044C>T																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	130	0	0	0	1	0	5	130				
GPR63	81491	broad.mit.edu	37	6	97246676	97246676	+	Missense_Mutation	SNP	C	C	A	rs560918889		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:97246676C>A	ENST00000229955.3	-	2	1277	c.932G>T	c.(931-933)cGt>cTt	p.R311L	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Missense_Mutation_p.R311L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGTGAAGGCACGTGTTTTAAA	0.478																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(931-933)cGt>cTt		G protein-coupled receptor 63							114.0	95.0	101.0					6																	97246676		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246676C>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.932G>T	6.37:g.97246676C>A	ENSP00000229955:p.Arg311Leu					GPR63_ENST00000417980.1_Missense_Mutation_p.R311L	p.R311L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1277	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	311					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.932G>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313776	0.81358	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.44881	0.91;0.91;0.91	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74144	-0.3760	10	0.87932	D	0	-13.6236	19.0987	0.93265	0.0:1.0:0.0:0.0	.	311	Q9BZJ6	GPR63_HUMAN	L	335;311;311;311	ENSP00000393170:R311L;ENSP00000229955:R311L;ENSP00000358273:R311L	ENSP00000229955:R311L	R	-	2	0	GPR63	97353397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.595000	0.87683	0.650000	0.86243	CGT		0.478	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			6	61	1	0	0.00198382	1	0.00214126	6	61				
TDRD5	163589	broad.mit.edu	37	1	179609542	179609542	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:179609542G>T	ENST00000367614.1	+	11	2121	c.1762G>T	c.(1762-1764)Gct>Tct	p.A588S	TDRD5_ENST00000294848.8_Missense_Mutation_p.A588S|TDRD5_ENST00000444136.1_Missense_Mutation_p.A588S	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	588					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCCAGCTCAGGCTATCCCTTG	0.413																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1762-1764)Gct>Tct		tudor domain containing 5							201.0	168.0	179.0					1																	179609542		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609542G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1762G>T	1.37:g.179609542G>T	ENSP00000356586:p.Ala588Ser					TDRD5_ENST00000367614.1_Missense_Mutation_p.A588S|TDRD5_ENST00000294848.8_Missense_Mutation_p.A588S	p.A588S	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			11	2012	+			588					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1762G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652303	0.88056	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.82	5.82	0.92795	Maternal tudor protein (1);	0.114444	0.56097	D	0.000021	T	0.45975	0.1369	M	0.81682	2.555	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.36578	-0.9742	10	0.54805	T	0.06	-10.1434	16.8044	0.85622	0.0:0.0:1.0:0.0	.	588;588	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	588;588;588;44	ENSP00000356586:A588S;ENSP00000294848:A588S;ENSP00000406052:A588S;ENSP00000410744:A44S	ENSP00000294848:A588S	A	+	1	0	TDRD5	177876165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.007000	0.76335	2.752000	0.94435	0.655000	0.94253	GCT		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		6	125	1	0	8.12818e-05	1	9.28935e-05	6	125				
STX5	6811	broad.mit.edu	37	11	62592568	62592568	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:62592568G>A	ENST00000294179.3	-	8	772	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	STX5_ENST00000394690.1_Missense_Mutation_p.R153W|STX5_ENST00000541317.1_Missense_Mutation_p.R111W|STX5_ENST00000377897.4_Missense_Mutation_p.R207W	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	207					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGCTCTCTCCGGCTCCTCTGC	0.582																																						ENST00000294179.3																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(619-621)Cgg>Tgg		syntaxin 5							44.0	51.0	49.0					11																	62592568		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62592568G>A	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.619C>T	11.37:g.62592568G>A	ENSP00000294179:p.Arg207Trp					STX5_ENST00000394690.1_Missense_Mutation_p.R153W|STX5_ENST00000377897.4_Missense_Mutation_p.R207W|STX5_ENST00000541317.1_Missense_Mutation_p.R111W	p.R207W	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN			8	772	-			207					B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.619C>T	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817451	0.70912	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.41	4.5	0.54988	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69202	-0.5207	10	0.87932	D	0	-3.3927	11.9039	0.52699	0.0831:0.0:0.9169:0.0	.	207;207	F8W8Q9;Q13190	.;STX5_HUMAN	W	207;207;153;111	ENSP00000367129:R207W;ENSP00000294179:R207W;ENSP00000378182:R153W;ENSP00000441428:R111W	ENSP00000294179:R207W	R	-	1	2	STX5	62349144	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	5.361000	0.66092	1.537000	0.49254	-0.136000	0.14681	CGG		0.582	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		9	61	0	0	0	1	0	9	61				
ITGBL1	9358	broad.mit.edu	37	13	102220053	102220053	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr13:102220053A>T	ENST00000376180.3	+	3	539	c.320A>T	c.(319-321)cAt>cTt	p.H107L	ITGBL1_ENST00000376162.3_Missense_Mutation_p.H14L|ITGBL1_ENST00000545560.2_De_novo_Start_OutOfFrame	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	107	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCCCAGGCCATGGTAAGTGT	0.433																																						ENST00000545560.2																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31								integrin, beta-like 1 (with EGF-like repeat domains)							209.0	182.0	191.0					13																	102220053		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102220053A>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.320A>T	13.37:g.102220053A>T	ENSP00000365351:p.His107Leu					ITGBL1_ENST00000376180.3_Missense_Mutation_p.H107L|ITGBL1_ENST00000376162.3_Missense_Mutation_p.H14L		NM_001271754.1	NP_001258683.1	O95965	ITGBL_HUMAN			0	269	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Translation_Start_Site	SNP	ENST00000376180.3	37		CCDS9499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.207630|4.207630	0.79240|0.79240	.|.	.|.	ENSG00000198542|ENSG00000198542	ENST00000376180;ENST00000376162|ENST00000537118	D;D|.	0.95756|.	-1.51;-3.8|.	5.39|5.39	5.39|5.39	0.77823|0.77823	EGF, extracellular (1);|.	0.155794|.	0.64402|.	D|.	0.000016|.	T|T	0.80171|0.80171	0.4574|0.4574	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	P|.	0.41080|.	0.737|.	P|.	0.45971|.	0.499|.	D|D	0.83729|0.83729	0.0197|0.0197	10|5	0.66056|.	D|.	0.02|.	.|.	14.2677|14.2677	0.66129|0.66129	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	107|.	O95965|.	ITGBL_HUMAN|.	L|L	107;14|16	ENSP00000365351:H107L;ENSP00000365332:H14L|.	ENSP00000365332:H14L|.	H|M	+|+	2|1	0|0	ITGBL1|ITGBL1	101018054|101018054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	5.158000|5.158000	0.64917|0.64917	2.171000|2.171000	0.68590|0.68590	0.528000|0.528000	0.53228|0.53228	CAT|ATG		0.433	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		9	134	0	0	0	1	0	9	134				
CNTNAP4	85445	broad.mit.edu	37	16	76461448	76461448	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:76461448C>A	ENST00000476707.1	+	3	638	c.499C>A	c.(499-501)Ccc>Acc	p.P167T	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P163T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P163T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P139T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	164	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAATGGAACCCCAAGGGCAG	0.413																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(487-489)Ccc>Acc		contactin associated protein-like 4							130.0	124.0	126.0					16																	76461448		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76461448C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.499C>A	16.37:g.76461448C>A	ENSP00000417628:p.Pro167Thr					CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P139T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P167T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P163T|CNTNAP4_ENST00000469589.1_3'UTR	p.P163T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			5	872	+			164			F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.487C>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.465550	0.84425	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	4.98	4.98	0.66077	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.37955	N	0.001864	D	0.85852	0.5793	.	.	.	0.44531	D	0.997486	D;D;P;D	0.59357	0.983;0.977;0.92;0.985	D;P;P;D	0.68483	0.958;0.904;0.833;0.938	D	0.85746	0.1340	9	0.52906	T	0.07	.	11.8664	0.52496	0.0:0.9193:0.0:0.0807	.	139;167;139;164	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	T	163;163;139;167	ENSP00000306893:P163T;ENSP00000439733:P163T;ENSP00000418741:P139T;ENSP00000417628:P167T	ENSP00000306893:P163T	P	+	1	0	CNTNAP4	75018949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.770000	0.55310	2.765000	0.95021	0.655000	0.94253	CCC		0.413	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		12	91	1	0	6.40141e-05	1	7.3779e-05	12	91				
UNC79	57578	broad.mit.edu	37	14	94120108	94120108	+	Missense_Mutation	SNP	C	C	T	rs148490393		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:94120108C>T	ENST00000393151.2	+	37	6221	c.6221C>T	c.(6220-6222)gCg>gTg	p.A2074V	UNC79_ENST00000555664.1_Missense_Mutation_p.A2035V|UNC79_ENST00000553484.1_Missense_Mutation_p.A2096V|UNC79_ENST00000256339.4_Missense_Mutation_p.A1897V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2074					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1897V(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCGGCAATGCGGCGGGGGTG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18342	0.001		0.0	False		,,,				2504	0.0					ENST00000553484.1																			1	Substitution - Missense(1)	p.A1897V(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(6286-6288)gCg>gTg		unc-79 homolog (C. elegans)		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	212.0	222.0	219.0		5690	3.2	0.1	14	dbSNP_134	219	0,8598		0,0,4299	no	missense	UNC79	NM_020818.3	64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1897/2459	94120108	1,13003	2203	4299	6502	SO:0001583	missense	57578					integral to membrane		g.chr14:94120108C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6221C>T	14.37:g.94120108C>T	ENSP00000376858:p.Ala2074Val					UNC79_ENST00000256339.4_Missense_Mutation_p.A1897V|UNC79_ENST00000555664.1_Missense_Mutation_p.A2035V|UNC79_ENST00000393151.2_Missense_Mutation_p.A2074V	p.A2096V			Q9P2D8	UNC79_HUMAN			38	6441	+			2074					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6287C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.52	1.663312	0.29515	2.27E-4	0.0	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.98	3.17	0.36434	.	0.056041	0.64402	D	0.000001	T	0.26268	0.0641	N	0.14661	0.345	0.44643	D	0.997626	B	0.10296	0.003	B	0.09377	0.004	T	0.04386	-1.0955	10	0.49607	T	0.09	-6.6679	11.9379	0.52884	0.0:0.8576:0.0:0.1424	.	2096	C9JQL1	.	V	1897;2035;2096;2074;2096	ENSP00000256339:A1897V;ENSP00000450868:A2035V;ENSP00000451360:A2096V;ENSP00000376858:A2074V	ENSP00000256339:A1897V	A	+	2	0	KIAA1409	93189861	0.998000	0.40836	0.089000	0.20774	0.688000	0.40055	3.806000	0.55583	0.626000	0.30322	-0.123000	0.14984	GCG		0.532	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	331	0	0	0	1	0	5	331				
ANKRD30BL	554226	broad.mit.edu	37	2	132912254	132912254	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:132912254C>A	ENST00000409867.1	-	4	844	c.595G>T	c.(595-597)Gca>Tca	p.A199S	ANKRD30BL_ENST00000470729.1_5'UTR|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	199										endometrium(1)|kidney(3)	4						TTATCAACTGCATTTGCATTT	0.318																																						ENST00000409867.1																			0				endometrium(1)|kidney(3)	4						c.(595-597)Gca>Tca		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132912254C>A			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.595G>T	2.37:g.132912254C>A	ENSP00000386398:p.Ala199Ser					ANKRD30BL_ENST00000470729.1_5'UTR	p.A199S							4	844	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.595G>T		.	.	.	.	.	.	.	.	.	.	.	13.31	2.199145	0.38806	.	.	ENSG00000163046	ENST00000409867	T	0.64618	-0.11	0.569	0.569	0.17340	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55055	-0.8200	5	0.72032	D	0.01	.	.	.	.	.	.	.	.	S	199	ENSP00000386398:A199S	ENSP00000295181:A199S	A	-	1	0	ANKRD30BL	132628724	0.092000	0.21681	0.187000	0.23214	0.526000	0.34562	0.897000	0.28390	0.567000	0.29293	0.184000	0.17185	GCA		0.318	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		3	21	1	0	0.004672	1	0.004964	3	21				
MGAT4C	25834	broad.mit.edu	37	12	86373732	86373732	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:86373732C>A	ENST00000604798.1	-	8	1976	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G258C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G258C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G287C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G258C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G258C			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	258					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAATGTAGCCAAGCTTAGAG	0.363																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(772-774)Ggc>Tgc		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							72.0	69.0	70.0					12																	86373732		2203	4299	6502	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373732C>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.772G>T	12.37:g.86373732C>A	ENSP00000474896:p.Gly258Cys					MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G287C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G258C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G258C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G258C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G258C	p.G258C			Q9UBM8	MGT4C_HUMAN			8	1976	-			258					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.772G>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447794	0.63178	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87222	0.2254	10	0.87932	D	0	-21.0882	20.0474	0.97616	0.0:1.0:0.0:0.0	.	287;258	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	258;287;258;258;258;258;258	ENSP00000331664:G258C;ENSP00000376900:G287C;ENSP00000449022:G258C;ENSP00000446647:G258C;ENSP00000447253:G258C;ENSP00000449172:G258C	ENSP00000331664:G258C	G	-	1	0	MGAT4C	84897863	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	7.814000	0.86154	2.722000	0.93159	0.655000	0.94253	GGC		0.363	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		6	103	1	0	1.06961e-07	1	1.34282e-07	6	103				
ZNF611	81856	broad.mit.edu	37	19	53210028	53210028	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:53210028C>T	ENST00000319783.1	-	7	596	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ZNF611_ENST00000602162.1_Missense_Mutation_p.E25K|ZNF611_ENST00000543227.1_Missense_Mutation_p.E94K|ZNF611_ENST00000540744.1_Missense_Mutation_p.E94K|ZNF611_ENST00000595798.1_Missense_Mutation_p.E25K|ZNF611_ENST00000453741.2_Missense_Mutation_p.E25K|ZNF611_ENST00000600943.1_Silent_p.*76*|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	94	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)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGATGACTTTCATGTCTTTGC	0.388																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(280-282)Gaa>Aaa		zinc finger protein 611							194.0	194.0	194.0					19																	53210028		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53210028C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.280G>A	19.37:g.53210028C>T	ENSP00000322427:p.Glu94Lys					ZNF611_ENST00000453741.2_Missense_Mutation_p.E25K|ZNF611_ENST00000319783.1_Missense_Mutation_p.E94K|ZNF611_ENST00000540744.1_Missense_Mutation_p.E94K|ZNF611_ENST00000595798.1_Missense_Mutation_p.E25K|ZNF611_ENST00000602162.1_Missense_Mutation_p.E25K|ZNF611_ENST00000600943.1_Silent_p.*76*	p.E94K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	554	-			94			KRAB.		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.280G>A	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	9.108	1.005806	0.19199	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.09445	3.15;3.15;2.98;3.15	0.958	-1.92	0.07618	Krueppel-associated box (1);	.	.	.	.	T	0.04907	0.0132	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.43327	-0.9398	9	0.23302	T	0.38	.	3.9075	0.09188	0.0:0.564:0.2466:0.1894	.	94	Q8N823	ZN611_HUMAN	K	94;94;25;94	ENSP00000437616:E94K;ENSP00000439211:E94K;ENSP00000443505:E25K;ENSP00000322427:E94K	ENSP00000322427:E94K	E	-	1	0	ZNF611	57901840	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.872000	0.04219	-0.513000	0.06496	-0.672000	0.03802	GAA		0.388	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		10	428	0	0	0	1	0	10	428				
ABCA6	23460	broad.mit.edu	37	17	67129853	67129853	+	Silent	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:67129853G>A	ENST00000284425.2	-	6	894	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	240					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTGTTACATTGAGTGATATAA	0.308																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(718-720)ctC>ctT		ATP-binding cassette, sub-family A (ABC1), member 6							63.0	65.0	65.0					17																	67129853		2202	4300	6502	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67129853G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.720C>T	17.37:g.67129853G>A							p.L240L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			6	894	-	Breast(10;5.65e-12)		240					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.720C>T	CCDS11683.1																																																																																				0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		9	107	0	0	0	1	0	9	107				
TRIM48	79097	broad.mit.edu	37	11	55036772	55036772	+	Silent	SNP	A	A	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:55036772A>C	ENST00000417545.2	+	5	719	c.633A>C	c.(631-633)gcA>gcC	p.A211A		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	195						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CGCTCAGGGCAGGGCCCATCA	0.498																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(631-633)gcA>gcC		tripartite motif containing 48							49.0	40.0	43.0					11																	55036772		2096	3966	6062	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55036772A>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.633A>C	11.37:g.55036772A>C							p.A211A	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			5	719	+			195					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.633A>C	CCDS7947.2																																																																																				0.498	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	87	0	0	0	1	0	9	87				
LZTR1	8216	broad.mit.edu	37	22	21351028	21351028	+	Missense_Mutation	SNP	C	C	T	rs141161152		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr22:21351028C>T	ENST00000215739.8	+	19	2622	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	LZTR1_ENST00000389355.3_Missense_Mutation_p.R736W|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	755					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTACAACAACCGGCTGCAGGC	0.617																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(2263-2265)Cgg>Tgg		leucine-zipper-like transcription regulator 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	47.0	50.0		2263	5.9	1.0	22	dbSNP_134	50	0,8598		0,0,4299	no	missense	LZTR1	NM_006767.3	101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	755/841	21351028	1,13003	2203	4299	6502	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21351028C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2263C>T	22.37:g.21351028C>T	ENSP00000215739:p.Arg755Trp					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R736W	p.R755W	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		19	2622	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	755					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.2263C>T	CCDS33606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.992864|4.992864	0.93167|0.93167	2.27E-4|2.27E-4	0.0|0.0	ENSG00000099949|ENSG00000099949	ENST00000415817|ENST00000539817;ENST00000215739;ENST00000389355	.|T;T	.|0.62788	.|0.42;0.0	5.88|5.88	5.88|5.88	0.94601|0.94601	.|BTB/POZ-like (1);BTB/POZ fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87075|0.87075	0.6087|0.6087	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.991;1.0;1.0;0.996	D|D	0.91034|0.91034	0.4866|0.4866	5|10	.|0.87932	.|D	.|0	-35.694|-35.694	17.7361|17.7361	0.88394|0.88394	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|736;467;755;714	.|B7Z3T9;B2R8T5;Q8N653;F5GXU8	.|.;.;LZTR1_HUMAN;.	L|W	54|714;755;736	.|ENSP00000215739:R755W;ENSP00000374006:R736W	.|ENSP00000215739:R755W	P|R	+|+	2|1	0|2	LZTR1|LZTR1	19681028|19681028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.502000|2.502000	0.45398|0.45398	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.617	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		10	50	0	0	0	1	0	10	50				
PABPC1	26986	broad.mit.edu	37	8	101718959	101718959	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:101718959C>A	ENST00000318607.5	-	11	2650	c.1522G>T	c.(1522-1524)Gtt>Ttt	p.V508F	PABPC1_ENST00000522387.1_Missense_Mutation_p.V476F|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.V463F|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	508					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TACTGTGGAACGGTGCGGACA	0.438																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(1522-1524)Gtt>Ttt		poly(A) binding protein, cytoplasmic 1							69.0	65.0	66.0					8																	101718959		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101718959C>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1522G>T	8.37:g.101718959C>A	ENSP00000313007:p.Val508Phe					PABPC1_ENST00000522387.1_Missense_Mutation_p.V476F|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.V463F	p.V508F	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		11	2650	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		508					Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1522G>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636306	0.87760	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.4	5.4	0.78164	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.102017	0.41294	D	0.000906	T	0.43656	0.1257	L	0.51914	1.62	0.46725	D	0.999173	B;B;B	0.25272	0.075;0.122;0.039	B;B;B	0.31547	0.083;0.132;0.132	T	0.21999	-1.0229	10	0.24483	T	0.36	.	19.5279	0.95213	0.0:1.0:0.0:0.0	.	476;508;508	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	F	508;463;476;17;55	ENSP00000313007:V508F;ENSP00000429594:V463F;ENSP00000429395:V476F;ENSP00000428030:V17F;ENSP00000428840:V55F	ENSP00000313007:V508F	V	-	1	0	PABPC1	101788135	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	5.508000	0.67006	2.706000	0.92434	0.655000	0.94253	GTT		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		15	136	1	0	1.15088e-07	1	1.41008e-07	15	136				
SPANXN2	494119	broad.mit.edu	37	X	142795238	142795238	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:142795238G>A	ENST00000370498.1	-	2	1193	c.440C>T	c.(439-441)tCt>tTt	p.S147F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	147								p.S147F(1)|p.K23K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.532																																						ENST00000370498.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S147F(1)|p.K23K(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(439-441)tCt>tTt		SPANX family, member N2							247.0	229.0	235.0					X																	142795238		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795238G>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.440C>T	X.37:g.142795238G>A	ENSP00000359529:p.Ser147Phe						p.S147F	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1193	-	Acute lymphoblastic leukemia(192;6.56e-05)		147					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.440C>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	3.485	-0.105066	0.06967	.	.	ENSG00000203924	ENST00000370498	T	0.08370	3.1	0.656	-1.31	0.09230	.	.	.	.	.	T	0.15392	0.0371	L	0.59436	1.845	0.09310	N	1	D	0.59357	0.985	P	0.59643	0.861	T	0.12243	-1.0555	8	0.66056	D	0.02	.	.	.	.	.	147	Q5MJ10	SPXN2_HUMAN	F	147	ENSP00000359529:S147F	ENSP00000359529:S147F	S	-	2	0	SPANXN2	142622904	0.026000	0.19158	0.000000	0.03702	0.002000	0.02628	0.154000	0.16343	-1.080000	0.03109	-0.553000	0.04205	TCT		0.532	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		40	281	0	0	0	1	0	40	281				
MYO7A	4647	broad.mit.edu	37	11	76893069	76893069	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:76893069G>C	ENST00000409709.3	+	24	3249	c.2977G>C	c.(2977-2979)Gag>Cag	p.E993Q	MYO7A_ENST00000458637.2_Missense_Mutation_p.E993Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E993Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E982Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	993					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGACGAGGATGAGGAGGACCT	0.607																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2977-2979)Gag>Cag		myosin VIIA							61.0	77.0	72.0					11																	76893069		2137	4216	6353	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76893069G>C	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2977G>C	11.37:g.76893069G>C	ENSP00000386331:p.Glu993Gln					MYO7A_ENST00000458637.2_Missense_Mutation_p.E993Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E993Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E982Q	p.E993Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			24	3249	+			993					B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.2977G>C	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	17.12	3.307487	0.60305	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.88586	-2.33;-2.4;-2.34;-2.36;-2.19	5.15	5.15	0.70609	.	0.132036	0.50627	D	0.000112	D	0.89312	0.6679	M	0.66939	2.045	0.58432	D	0.999997	B;B;B;B	0.22983	0.078;0.041;0.07;0.05	B;B;B;B	0.30401	0.115;0.087;0.106;0.115	D	0.86296	0.1677	10	0.37606	T	0.19	.	18.6347	0.91372	0.0:0.0:1.0:0.0	.	993;982;993;993	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	Q	993;993;993;982;204;992;992;869;992;174	ENSP00000386331:E993Q;ENSP00000386689:E993Q;ENSP00000392185:E993Q;ENSP00000386635:E982Q;ENSP00000417017:E174Q	ENSP00000345075:E869Q	E	+	1	0	MYO7A	76570717	1.000000	0.71417	0.956000	0.39512	0.982000	0.71751	6.235000	0.72332	2.396000	0.81511	0.549000	0.68633	GAG		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	61	0	0	0	1	0	8	61				
TARS	6897	broad.mit.edu	37	5	33461032	33461032	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:33461032T>C	ENST00000265112.3	+	12	1587	c.1276T>C	c.(1276-1278)Tcc>Ccc	p.S426P	TARS_ENST00000414361.2_Missense_Mutation_p.S305P|TARS_ENST00000455217.2_Missense_Mutation_p.S459P|TARS_ENST00000502553.1_Missense_Mutation_p.S426P|TARS_ENST00000541634.1_Missense_Mutation_p.S322P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	426					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCGGCCAAGGTCCTGGCGAGA	0.458																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1276-1278)Tcc>Ccc		threonyl-tRNA synthetase	L-Threonine(DB00156)						73.0	76.0	75.0					5																	33461032		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461032T>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1276T>C	5.37:g.33461032T>C	ENSP00000265112:p.Ser426Pro					TARS_ENST00000502553.1_Missense_Mutation_p.S426P|TARS_ENST00000414361.2_Missense_Mutation_p.S305P|TARS_ENST00000541634.1_Missense_Mutation_p.S322P|TARS_ENST00000455217.2_Missense_Mutation_p.S459P	p.S426P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			12	1587	+			426					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1276T>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	T	32	5.108407	0.94292	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.93138	0.7815	H	0.99990	5.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.988;0.996	D	0.96689	0.9509	10	0.87932	D	0	-13.0083	16.8222	0.85835	0.0:0.0:0.0:1.0	.	305;459;322;426	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	P	426;426;322;459;305	ENSP00000424387:S426P;ENSP00000265112:S426P;ENSP00000438469:S322P;ENSP00000387710:S459P;ENSP00000394291:S305P	ENSP00000265112:S426P	S	+	1	0	TARS	33496789	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	8.002000	0.88514	2.371000	0.80710	0.533000	0.62120	TCC		0.458	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		7	108	0	0	0	1	0	7	108				
MYNN	55892	broad.mit.edu	37	3	169496709	169496709	+	Silent	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:169496709A>G	ENST00000349841.5	+	3	1083	c.420A>G	c.(418-420)caA>caG	p.Q140Q	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Silent_p.Q140Q|MYNN_ENST00000356716.4_Silent_p.Q140Q|MYNN_ENST00000544106.1_Silent_p.Q140Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AATTGAATCAACAGACTTGTC	0.343																																						ENST00000349841.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(418-420)caA>caG		myoneurin							47.0	50.0	49.0					3																	169496709		2203	4300	6503	SO:0001819	synonymous_variant	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169496709A>G	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.420A>G	3.37:g.169496709A>G						MYNN_ENST00000392733.1_Silent_p.Q140Q|MYNN_ENST00000356716.4_Silent_p.Q140Q|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Silent_p.Q140Q	p.Q140Q	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	1083	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		140					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	ENST00000349841.5	37	c.420A>G	CCDS3207.1																																																																																				0.343	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		7	77	0	0	0	1	0	7	77				
ADD3	120	broad.mit.edu	37	10	111881990	111881990	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr10:111881990T>A	ENST00000356080.4	+	9	1450	c.1083T>A	c.(1081-1083)caT>caA	p.H361Q	ADD3_ENST00000360162.3_Missense_Mutation_p.H361Q|ADD3_ENST00000277900.8_Missense_Mutation_p.H361Q	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	361						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGGGTTCCCATCAAAAATGGA	0.418																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1081-1083)caT>caA		adducin 3 (gamma)							156.0	141.0	146.0					10																	111881990		2203	4300	6503	SO:0001583	missense	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111881990T>A	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1083T>A	10.37:g.111881990T>A	ENSP00000348381:p.His361Gln					ADD3_ENST00000356080.4_Missense_Mutation_p.H361Q|ADD3_ENST00000360162.3_Missense_Mutation_p.H361Q	p.H361Q	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	9	1448	+		Breast(234;0.052)|Lung NSC(174;0.223)	361					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	ENST00000356080.4	37	c.1083T>A	CCDS7561.1	.	.	.	.	.	.	.	.	.	.	T	8.351	0.830948	0.16820	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.04551	3.6;3.6;3.6	5.99	-2.55	0.06288	.	0.551057	0.22038	N	0.065491	T	0.01320	0.0043	N	0.03071	-0.42	0.19300	N	0.999974	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.43845	-0.9366	10	0.12103	T	0.63	-11.4537	1.1135	0.01709	0.1532:0.265:0.2471:0.3346	.	361;361	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	Q	361	ENSP00000353286:H361Q;ENSP00000348381:H361Q;ENSP00000277900:H361Q	ENSP00000277900:H361Q	H	+	3	2	ADD3	111871980	0.258000	0.24033	0.992000	0.48379	0.989000	0.77384	-0.050000	0.11904	-0.061000	0.13110	0.529000	0.55759	CAT		0.418	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		4	136	0	0	0	1	0	4	136				
PRDM9	56979	broad.mit.edu	37	5	23509628	23509628	+	Missense_Mutation	SNP	G	G	T	rs186504490	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:23509628G>T	ENST00000296682.3	+	3	301	c.119G>T	c.(118-120)tGg>tTg	p.W40L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	40	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				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						AAGGAAGAATGGGCAGAGATG	0.423										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.(118-120)tGg>tTg		PR domain containing 9							211.0	198.0	202.0					5																	23509628		1867	4115	5982	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509628G>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.119G>T	5.37:g.23509628G>T	ENSP00000296682:p.Trp40Leu	HNSCC(3;0.000094)					p.W40L	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			3	301	+			40			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.119G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.144990	0.57044	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.09630	2.96;2.96	2.76	2.76	0.32466	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.30572	0.0769	M	0.78285	2.405	0.26982	N	0.965341	D	0.69078	0.997	D	0.79108	0.992	T	0.02352	-1.1172	9	0.87932	D	0	.	9.1521	0.36969	0.0:0.0:1.0:0.0	.	40	Q9NQV7	PRDM9_HUMAN	L	40	ENSP00000425471:W40L;ENSP00000296682:W40L	ENSP00000296682:W40L	W	+	2	0	PRDM9	23545385	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.294000	0.33365	1.840000	0.53500	0.609000	0.83330	TGG		0.423	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		13	226	1	0	2.61681e-11	1	3.42199e-11	13	226				
SLC25A32	81034	broad.mit.edu	37	8	104419870	104419870	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:104419870G>T	ENST00000297578.4	-	2	463	c.297C>A	c.(295-297)taC>taA	p.Y99*	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	99					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ACAAGAAAAAGTAGAGTCCCC	0.343																																						ENST00000297578.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(295-297)taC>taA		solute carrier family 25 (mitochondrial folate carrier), member 32	Folic Acid(DB00158)						104.0	107.0	106.0					8																	104419870		2203	4300	6503	SO:0001587	stop_gained	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104419870G>T	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.297C>A	8.37:g.104419870G>T	ENSP00000297578:p.Tyr99*					SLC25A32_ENST00000543107.1_5'UTR	p.Y99*	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	463	-			99					Q96JZ6|Q96SU7	Nonsense_Mutation	SNP	ENST00000297578.4	37	c.297C>A	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	37	6.373546	0.97515	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	.	.	.	6.05	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7156	12.5509	0.56225	0.1565:0.0:0.8435:0.0	.	.	.	.	X	99;83	.	ENSP00000297578:Y99X	Y	-	3	2	SLC25A32	104489046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.012000	0.49575	2.878000	0.98634	0.650000	0.86243	TAC		0.343	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		18	170	1	0	6.49762e-13	1	8.57938e-13	18	170				
UBD	10537	broad.mit.edu	37	6	29523954	29523954	+	Silent	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:29523954G>T	ENST00000377050.4	-	2	424	c.201C>A	c.(199-201)ggC>ggA	p.G67G	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	67	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTTGTCAATGCCATAAGATG	0.498																																						ENST00000377050.4																			0				kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(199-201)ggC>ggA		ubiquitin D							63.0	63.0	63.0					6																	29523954		1511	2709	4220	SO:0001819	synonymous_variant	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29523954G>T	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.201C>A	6.37:g.29523954G>T						GABBR1_ENST00000355973.3_3'UTR	p.G67G	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN			2	424	-			67			Ubiquitin 1.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Silent	SNP	ENST00000377050.4	37	c.201C>A	CCDS4662.1																																																																																				0.498	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			8	54	1	0	0.000157383	1	0.000175444	8	54				
XIRP2	129446	broad.mit.edu	37	2	168103427	168103427	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:168103427C>A	ENST00000409195.1	+	9	5614	c.5525C>A	c.(5524-5526)aCa>aAa	p.T1842K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1620K|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1842K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1667					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTGATTTGACATCAACCCTA	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5524-5526)aCa>aAa		xin actin-binding repeat containing 2							86.0	77.0	80.0					2																	168103427		1852	4091	5943	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103427C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5525C>A	2.37:g.168103427C>A	ENSP00000386840:p.Thr1842Lys					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1620K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1842K|XIRP2_ENST00000409756.2_Intron	p.T1842K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5614	+			1667					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5525C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.615389	0.00835	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02050	4.48;4.48;4.48	5.76	4.65	0.58169	.	0.365554	0.33753	N	0.004588	T	0.00784	0.0026	N	0.00926	-1.1	0.20638	N	0.999877	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46843	-0.9162	10	0.02654	T	1	-11.6159	6.7119	0.23282	0.7365:0.1809:0.0826:0.0	.	1667;1667;1620	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	1842;1842;1620	ENSP00000386840:T1842K;ENSP00000295237:T1842K;ENSP00000387255:T1620K	ENSP00000295237:T1842K	T	+	2	0	XIRP2	167811673	1.000000	0.71417	0.997000	0.53966	0.696000	0.40369	1.741000	0.38238	1.069000	0.40788	0.650000	0.86243	ACA		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		14	109	1	0	4.3838e-07	1	5.27608e-07	14	109				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		6	189	0	0	0	1	0	6	189				
ACKR1	2532	broad.mit.edu	37	1	159175698	159175698	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:159175698C>A	ENST00000368122.2	+	2	1148	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	DARC_ENST00000368121.2_Missense_Mutation_p.L159M|DARC_ENST00000537147.1_Missense_Mutation_p.L157M|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		157					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGGCCACAGACTGGGTGCAGG	0.642																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(469-471)Ctg>Atg		Duffy blood group, atypical chemokine receptor							43.0	34.0	37.0					1																	159175698		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175698C>A																												ENST00000368122.2:c.469C>A	1.37:g.159175698C>A	ENSP00000357104:p.Leu157Met					DARC_ENST00000368122.2_Missense_Mutation_p.L157M|DARC_ENST00000368121.2_Missense_Mutation_p.L159M	p.L157M			Q16570	DUFFY_HUMAN			3	1312	+	all_hematologic(112;0.0429)		157					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.469C>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031797	0.54790	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.38401	1.14;1.14;1.14	5.23	4.31	0.51392	.	0.000000	0.26457	U	0.024266	T	0.31734	0.0806	L	0.35854	1.095	0.19945	N	0.999948	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.09907	-1.0653	10	0.46703	T	0.11	-15.0182	10.2315	0.43258	0.0:0.9073:0.0:0.0927	.	159;157	Q5Y7A1;Q16570	.;DUFFY_HUMAN	M	157;157;157;159	ENSP00000357104:L157M;ENSP00000441985:L157M;ENSP00000357103:L159M	ENSP00000352341:L157M	L	+	1	2	DARC	157442322	0.099000	0.21834	0.193000	0.23327	0.873000	0.50193	0.961000	0.29267	1.333000	0.45449	0.561000	0.74099	CTG		0.642	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			4	38	1	0	1	1	1	4	38				
SLC13A1	6561	broad.mit.edu	37	7	122755642	122755642	+	Missense_Mutation	SNP	A	A	T	rs536599511		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:122755642A>T	ENST00000194130.2	-	15	1757	c.1718T>A	c.(1717-1719)aTt>aAt	p.I573N	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	573					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CATGGGTACAATCCAAGTACA	0.433																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1717-1719)aTt>aAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						218.0	163.0	182.0					7																	122755642		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122755642A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1718T>A	7.37:g.122755642A>T	ENSP00000194130:p.Ile573Asn					SLC13A1_ENST00000539873.1_3'UTR	p.I573N	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			15	1757	-			573					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1718T>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	9.996	1.232062	0.22626	.	.	ENSG00000081800	ENST00000194130	T	0.02837	4.14	5.81	3.48	0.39840	.	0.344421	0.33670	N	0.004664	T	0.05318	0.0141	M	0.68593	2.085	0.80722	D	1	B;B	0.23377	0.084;0.084	B;B	0.32677	0.15;0.15	T	0.15578	-1.0432	10	0.59425	D	0.04	-14.8366	7.7208	0.28731	0.775:0.0:0.225:0.0	.	573;573	A4D0X1;Q9BZW2	.;S13A1_HUMAN	N	573	ENSP00000194130:I573N	ENSP00000194130:I573N	I	-	2	0	SLC13A1	122542878	0.996000	0.38824	0.790000	0.31976	0.025000	0.11179	3.184000	0.50926	1.020000	0.39573	-0.274000	0.10170	ATT		0.433	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		10	87	0	0	0	1	0	10	87				
GABRA2	2555	broad.mit.edu	37	4	46305631	46305631	+	Splice_Site	SNP	T	T	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:46305631T>G	ENST00000510861.1	-	8	877		c.e8-2		GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000515082.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TATATTCACCTGGAAGAAAAA	0.328																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.e8-2		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						55.0	58.0	57.0					4																	46305631		2203	4299	6502	SO:0001630	splice_region_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305631T>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.704-2A>C	4.37:g.46305631T>G						GABRA2_ENST00000515082.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site				P47869	GBRA2_HUMAN			8	877	-								A8K0U7|B7Z1H8|Q59G14	Splice_Site	SNP	ENST00000510861.1	37		CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734395	0.69189	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.923	0.70854	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRA2	46000388	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.997000	0.88414	2.172000	0.68678	0.533000	0.62120	.		0.328	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		Intron	4	53	0	0	0	1	0	4	53				
CSMD1	64478	broad.mit.edu	37	8	3216729	3216729	+	Silent	SNP	A	A	G	rs374597074		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr8:3216729A>G	ENST00000520002.1	-	22	3807	c.3252T>C	c.(3250-3252)ctT>ctC	p.L1084L	CSMD1_ENST00000539096.1_Silent_p.L1083L|CSMD1_ENST00000542608.1_Silent_p.L1083L|CSMD1_ENST00000602723.1_Silent_p.L1084L|CSMD1_ENST00000602557.1_Silent_p.L1084L|CSMD1_ENST00000537824.1_Silent_p.L1083L|CSMD1_ENST00000400186.3_Silent_p.L1084L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1084	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCAGGCAGGTAAGCTTGGTGG	0.557																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3250-3252)ctT>ctC		CUB and Sushi multiple domains 1				0,4406		0,0,2203	70.0	75.0	73.0		3249	-0.6	1.0	8		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		1083/3565	3216729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3216729A>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3252T>C	8.37:g.3216729A>G						CSMD1_ENST00000542608.1_Silent_p.L1083L|CSMD1_ENST00000539096.1_Silent_p.L1083L|CSMD1_ENST00000537824.1_Silent_p.L1083L|CSMD1_ENST00000602723.1_Silent_p.L1084L|CSMD1_ENST00000400186.3_Silent_p.L1084L|CSMD1_ENST00000602557.1_Silent_p.L1084L	p.L1084L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3807	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1084			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3252T>C		.	.	.	.	.	.	.	.	.	.	a	9.794	1.178623	0.21787	0.0	1.16E-4	ENSG00000183117	ENST00000335551	.	.	.	5.34	-0.581	0.11713	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36138	-0.9760	4	.	.	.	.	6.015	0.19598	0.4245:0.364:0.2115:0.0	.	.	.	.	H	564	.	.	Y	-	1	0	CSMD1	3204136	0.893000	0.30496	0.987000	0.45799	0.974000	0.67602	0.064000	0.14437	-0.341000	0.08376	0.449000	0.29647	TAC		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	86	0	0	0	1	0	10	86				
TUBA3C	7278	broad.mit.edu	37	13	19751433	19751433	+	Silent	SNP	C	C	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr13:19751433C>G	ENST00000400113.3	-	4	794	c.690G>C	c.(688-690)ctG>ctC	p.L230L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	230					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTGCCCAATCAGGCGATTGA	0.557																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(688-690)ctG>ctC		tubulin, alpha 3c							189.0	160.0	170.0					13																	19751433		2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751433C>G	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.690G>C	13.37:g.19751433C>G							p.L230L	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	794	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	230					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.690G>C	CCDS9284.1																																																																																				0.557	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		11	172	0	0	0	1	0	11	172				
BCKDHB	594	broad.mit.edu	37	6	80838926	80838926	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:80838926T>C	ENST00000320393.6	+	3	370	c.323T>C	c.(322-324)gTt>gCt	p.V108A	BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000545529.1_Missense_Mutation_p.V108A|BCKDHB_ENST00000356489.5_Missense_Mutation_p.V108A|BCKDHB_ENST00000369760.4_Missense_Mutation_p.V108A	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	108					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGATGCACTGTTGGCTTGCGA	0.264																																						ENST00000545529.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(322-324)gTt>gCt		branched chain keto acid dehydrogenase E1, beta polypeptide							119.0	125.0	123.0					6																	80838926		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80838926T>C	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.323T>C	6.37:g.80838926T>C	ENSP00000318351:p.Val108Ala					BCKDHB_ENST00000320393.6_Missense_Mutation_p.V108A|BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000369760.4_Missense_Mutation_p.V108A|BCKDHB_ENST00000356489.5_Missense_Mutation_p.V108A	p.V108A			P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	3	351	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	108					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.323T>C	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232536	0.39498	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.81	5.81	0.92471	Transketolase-like, pyrimidine-binding domain (2);	0.053411	0.85682	N	0.000000	D	0.82843	0.5125	L	0.41236	1.265	0.80722	D	1	P	0.46142	0.873	P	0.48552	0.581	T	0.81876	-0.0731	10	0.09843	T	0.71	-24.6221	12.5617	0.56286	0.0:0.0:0.0:1.0	.	108	P21953	ODBB_HUMAN	A	108;108;108;108;38	ENSP00000358775:V108A;ENSP00000318351:V108A;ENSP00000348880:V108A;ENSP00000443564:V108A	ENSP00000318351:V108A	V	+	2	0	BCKDHB	80895645	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.209000	0.72171	2.217000	0.71921	0.533000	0.62120	GTT		0.264	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		4	199	0	0	0	1	0	4	199				
L3HYPDH	112849	broad.mit.edu	37	14	59942889	59942889	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:59942889T>C	ENST00000247194.4	-	3	835	c.722A>G	c.(721-723)tAt>tGt	p.Y241C	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.Y70C|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	241					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TATAGTTCCATATAAAAAGGC	0.284																																						ENST00000247194.4																			0											c.(721-723)tAt>tGt		L-3-hydroxyproline dehydratase (trans-)							90.0	93.0	92.0					14																	59942889		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59942889T>C	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.722A>G	14.37:g.59942889T>C	ENSP00000247194:p.Tyr241Cys					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.Y70C	p.Y241C	NM_144581.1	NP_653182.1					3	835	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.722A>G	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038360	0.75617	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.17370	2.28;2.28;2.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	M	0.87328	2.875	0.80722	D	1	P	0.47350	0.894	P	0.54372	0.75	T	0.48198	-0.9056	10	0.66056	D	0.02	.	15.6924	0.77464	0.0:0.0:0.0:1.0	.	241	Q96EM0	PRCM_HUMAN	C	241;70;70	ENSP00000247194:Y241C;ENSP00000431608:Y70C;ENSP00000423874:Y70C	ENSP00000247194:Y241C	Y	-	2	0	C14orf149	59012642	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.247000	0.78257	2.103000	0.63969	0.482000	0.46254	TAT		0.284	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		8	73	0	0	0	1	0	8	73				
EPB41L3	23136	broad.mit.edu	37	18	5416179	5416179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr18:5416179G>A	ENST00000341928.2	-	13	2045	c.1705C>T	c.(1705-1707)Caa>Taa	p.Q569*	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.Q569*|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	569	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCCACATCTTGATCCCCTAGG	0.572																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1705-1707)Caa>Taa		erythrocyte membrane protein band 4.1-like 3							98.0	94.0	95.0					18																	5416179		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416179G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1705C>T	18.37:g.5416179G>A	ENSP00000343158:p.Gln569*					EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.Q569*|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron	p.Q569*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2045	-			569			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.1705C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	41	8.649525	0.98899	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	.	.	.	5.55	5.55	0.83447	.	0.570022	0.17590	N	0.168789	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.0362	0.71748	0.0:0.1417:0.8583:0.0	.	.	.	.	X	569	.	ENSP00000343158:Q569X	Q	-	1	0	EPB41L3	5406179	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	6.122000	0.71608	2.596000	0.87737	0.563000	0.77884	CAA		0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		6	106	0	0	0	1	0	6	106				
PITPNM3	83394	broad.mit.edu	37	17	6441364	6441364	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:6441364G>C	ENST00000262483.8	-	2	148	c.61C>G	c.(61-63)Cga>Gga	p.R21G	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R21G	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	21					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGACATTTCGAAGGTGCCAG	0.547																																						ENST00000262483.8																			0											c.(61-63)Cga>Gga									44.0	41.0	42.0					17																	6441364		2203	4300	6503	SO:0001583	missense	83394							g.chr17:6441364G>C	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.61C>G	17.37:g.6441364G>C	ENSP00000262483:p.Arg21Gly					ACKR6_ENST00000421306.3_Missense_Mutation_p.R21G	p.R21G	NM_031220.3	NP_112497.2					2	148	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.61C>G	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823223	0.71143	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.48522	0.95;0.81	4.89	4.89	0.63831	.	0.172616	0.38272	N	0.001741	T	0.30135	0.0755	N	0.08118	0	0.28689	N	0.904705	B;P	0.44090	0.275;0.826	B;B	0.40602	0.084;0.334	T	0.31194	-0.9952	10	0.72032	D	0.01	-3.1387	13.9315	0.63998	0.0:0.0:1.0:0.0	.	21;21	F8WEW5;Q9BZ71	.;PITM3_HUMAN	G	21	ENSP00000262483:R21G;ENSP00000407882:R21G	ENSP00000262483:R21G	R	-	1	2	PITPNM3	6382088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.730000	0.47335	2.439000	0.82584	0.655000	0.94253	CGA		0.547	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		12	21	0	0	0	1	0	12	21				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			197331							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	184	0	0	0	1	0	7	184				
LRRC7	57554	broad.mit.edu	37	1	70504623	70504623	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:70504623C>T	ENST00000035383.5	+	19	3032	c.3002C>T	c.(3001-3003)cCa>cTa	p.P1001L	LRRC7_ENST00000310961.5_Missense_Mutation_p.P1006L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P285L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1001						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						CAGTCAGTCCCAATGCTGGAT	0.468																																						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.(3016-3018)cCa>cTa		leucine rich repeat containing 7							50.0	46.0	47.0					1																	70504623		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504623C>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.3002C>T	1.37:g.70504623C>T	ENSP00000035383:p.Pro1001Leu					LRRC7_ENST00000035383.5_Missense_Mutation_p.P1001L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P285L	p.P1006L			Q96NW7	LRRC7_HUMAN			22	3435	+			1001					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3017C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016651	0.54468	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39056	1.1;1.18;2.27	5.69	5.69	0.88448	.	0.056193	0.64402	D	0.000001	T	0.55625	0.1932	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.997	T	0.56098	-0.8035	10	0.66056	D	0.02	.	18.7929	0.91982	0.0:1.0:0.0:0.0	.	285;1001;1001	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	L	1006;1001;285;824	ENSP00000309245:P1006L;ENSP00000035383:P1001L;ENSP00000394867:P285L	ENSP00000035383:P1001L	P	+	2	0	LRRC7	70277211	1.000000	0.71417	0.401000	0.26359	0.369000	0.29798	7.241000	0.78201	2.692000	0.91855	0.563000	0.77884	CCA		0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		4	63	0	0	0	1	0	4	63				
MEX3A	92312	broad.mit.edu	37	1	156047275	156047275	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:156047275G>A	ENST00000532414.2	-	2	652	c.653C>T	c.(652-654)cCt>cTt	p.P218L	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	218						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGGCAGAGCAGGAGCCACACC	0.667																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(652-654)cCt>cTt		mex-3 RNA binding family member A							45.0	55.0	52.0					1																	156047275		2159	4272	6431	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047275G>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.653C>T	1.37:g.156047275G>A	ENSP00000432845:p.Pro218Leu					MEX3A_ENST00000442784.1_5'UTR	p.P218L	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	652	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		218						Missense_Mutation	SNP	ENST00000532414.2	37	c.653C>T	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531001	0.45073	.	.	ENSG00000254726	ENST00000532414	T	0.54479	0.57	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000013	T	0.46425	0.1392	M	0.69523	2.12	0.80722	D	1	P	0.43231	0.801	B	0.40782	0.34	T	0.57763	-0.7755	10	0.66056	D	0.02	.	17.1894	0.86875	0.0:0.0:1.0:0.0	.	218	A1L020	MEX3A_HUMAN	L	218	ENSP00000432845:P218L	ENSP00000432845:P218L	P	-	2	0	MEX3A	154313899	1.000000	0.71417	0.998000	0.56505	0.177000	0.22998	8.010000	0.88615	2.409000	0.81822	0.462000	0.41574	CCT		0.667	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		4	25	0	0	0	1	0	4	25				
ABCB9	23457	broad.mit.edu	37	12	123467101	123467101	+	5'Flank	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:123467101C>T	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000454885.2_Intron|ARL6IP4_ENST00000357866.4_Intron|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_Intron|ARL6IP4_ENST00000426960.2_Intron|ARL6IP4_ENST00000453766.2_Intron|ARL6IP4_ENST00000315580.5_Intron|ARL6IP4_ENST00000392435.2_Silent_p.L329L|ARL6IP4_ENST00000439686.2_Intron|ARL6IP4_ENST00000412505.2_Intron			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		TGTGGCCCCTCTGCCTGCCAT	0.587																																					Ovarian(49;786 1333 9175 38236)	ENST00000392435.2																			0											c.(985-987)Ctg>Ttg		ADP-ribosylation-like factor 6 interacting protein 4							179.0	138.0	152.0					12																	123467101		2203	4300	6503	SO:0001631	upstream_gene_variant	51329				RNA splicing	nucleus		g.chr12:123467101C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123467101C>T	Exception_encountered					ARL6IP4_ENST00000315580.5_Intron|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000439686.2_Intron|ARL6IP4_ENST00000426960.2_Intron|ARL6IP4_ENST00000454885.2_Intron|ARL6IP4_ENST00000453766.2_Intron|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_Intron|ARL6IP4_ENST00000412505.2_Intron	p.L329L			Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	5	1182	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		0					B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Silent	SNP	ENST00000542678.1	37	c.985C>T	CCDS9241.1																																																																																				0.587	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		4	55	0	0	0	1	0	4	55				
CNTLN	54875	broad.mit.edu	37	9	17330664	17330664	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr9:17330664C>T	ENST00000380647.3	+	9	1460	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	CNTLN_ENST00000262360.5_Missense_Mutation_p.T459M|CNTLN_ENST00000425824.1_Missense_Mutation_p.T459M			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	459					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCTTAGAAACGTTAATGGTT	0.294																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1375-1377)aCg>aTg		centlein, centrosomal protein							125.0	122.0	123.0					9																	17330664		1807	4083	5890	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17330664C>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1376C>T	9.37:g.17330664C>T	ENSP00000370021:p.Thr459Met					CNTLN_ENST00000262360.5_Missense_Mutation_p.T459M|CNTLN_ENST00000425824.1_Missense_Mutation_p.T459M	p.T459M			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	9	1460	+			459					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1376C>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379723	0.24944	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.12465	2.68;2.68;2.68	4.85	3.88	0.44766	.	.	.	.	.	T	0.28566	0.0707	M	0.65975	2.015	0.26401	N	0.976419	D;D;D	0.89917	1.0;0.993;0.993	D;P;P	0.69824	0.966;0.834;0.742	T	0.19289	-1.0310	9	0.54805	T	0.06	.	3.707	0.08404	0.1498:0.5101:0.2493:0.0908	.	459;459;459	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	M	459	ENSP00000370021:T459M;ENSP00000392798:T459M;ENSP00000262360:T459M	ENSP00000262360:T459M	T	+	2	0	CNTLN	17320664	0.979000	0.34478	1.000000	0.80357	0.199000	0.23934	0.719000	0.25881	2.381000	0.81170	0.650000	0.86243	ACG		0.294	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		12	195	0	0	0	1	0	12	195				
RBM25	58517	broad.mit.edu	37	14	73538409	73538409	+	Silent	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:73538409G>T	ENST00000261973.7	+	2	345	c.60G>T	c.(58-60)ggG>ggT	p.G20G	RBM25_ENST00000540173.1_Silent_p.G20G|RBM25_ENST00000526754.1_Silent_p.G20G|RBM25_ENST00000527432.1_Silent_p.G20G|RBM25_ENST00000525321.1_Silent_p.G20G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	20					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCCACCAGGGATCCCACCCC	0.453																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(58-60)ggG>ggT		RNA binding motif protein 25							98.0	98.0	98.0					14																	73538409		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73538409G>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.60G>T	14.37:g.73538409G>T						RBM25_ENST00000540173.1_Silent_p.G20G|RBM25_ENST00000527432.1_Silent_p.G20G|RBM25_ENST00000526754.1_Silent_p.G20G|RBM25_ENST00000525321.1_Silent_p.G20G	p.G20G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	2	345	+			20					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.60G>T	CCDS32113.1																																																																																				0.453	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		5	77	1	0	0.014758	1	0.0152052	5	77				
SPATA7	55812	broad.mit.edu	37	14	88892747	88892747	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:88892747A>G	ENST00000393545.4	+	6	833	c.544A>G	c.(544-546)Agt>Ggt	p.S182G	SPATA7_ENST00000045347.7_Missense_Mutation_p.S182G|SPATA7_ENST00000356583.5_Missense_Mutation_p.S150G|SPATA7_ENST00000556553.1_Missense_Mutation_p.S150G	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	182					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CTCCCCGTCCAGTGTGGATTA	0.512																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(448-450)Agt>Ggt		spermatogenesis associated 7							73.0	67.0	69.0					14																	88892747		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88892747A>G	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.544A>G	14.37:g.88892747A>G	ENSP00000377176:p.Ser182Gly					SPATA7_ENST00000356583.5_Missense_Mutation_p.S150G|SPATA7_ENST00000045347.7_Missense_Mutation_p.S182G|SPATA7_ENST00000393545.4_Missense_Mutation_p.S182G	p.S150G			Q9P0W8	SPAT7_HUMAN			6	1007	+			182					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.448A>G	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110832	0.37242	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	4.68	-0.717	0.11208	.	1.335720	0.04564	N	0.391991	T	0.21022	0.0506	L	0.47716	1.5	0.09310	N	1	P;P;B	0.40180	0.705;0.573;0.206	B;B;B	0.41510	0.359;0.23;0.059	T	0.28490	-1.0042	10	0.59425	D	0.04	-0.8714	4.5995	0.12347	0.4372:0.0:0.0889:0.474	.	150;150;182	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	G	150;182;150;125;168;182	ENSP00000451128:S150G;ENSP00000377176:S182G;ENSP00000348991:S150G;ENSP00000452435:S125G;ENSP00000450606:S168G;ENSP00000045347:S182G	ENSP00000045347:S182G	S	+	1	0	SPATA7	87962500	0.000000	0.05858	0.007000	0.13788	0.260000	0.26232	0.148000	0.16224	-0.012000	0.14223	0.528000	0.53228	AGT		0.512	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			17	123	0	0	0	1	0	17	123				
SLITRK3	22865	broad.mit.edu	37	3	164906037	164906037	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:164906037C>A	ENST00000475390.1	-	2	3025	c.2582G>T	c.(2581-2583)cGc>cTc	p.R861L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R861L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	861					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						CTCATGGTGGCGGAACCCTGC	0.582										HNSCC(40;0.11)																												ENST00000475390.1																			0				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.(2581-2583)cGc>cTc		SLIT and NTRK-like family, member 3							81.0	77.0	78.0					3																	164906037		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906037C>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.2582G>T	3.37:g.164906037C>A	ENSP00000420091:p.Arg861Leu	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R861L	p.R861L			O94933	SLIK3_HUMAN			2	3025	-			861					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2582G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700866	0.30142	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.62364	0.03;0.03	5.75	4.88	0.63580	.	0.000000	0.35207	N	0.003377	T	0.44265	0.1285	N	0.19112	0.55	0.39709	D	0.971301	B	0.13145	0.007	B	0.15052	0.012	T	0.39781	-0.9597	10	0.45353	T	0.12	-6.7373	7.6292	0.28230	0.1624:0.7549:0.0:0.0827	.	861	O94933	SLIK3_HUMAN	L	861	ENSP00000420091:R861L;ENSP00000241274:R861L	ENSP00000241274:R861L	R	-	2	0	SLITRK3	166388731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.516000	0.53436	1.444000	0.47605	0.655000	0.94253	CGC		0.582	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		6	96	1	0	0.0215528	1	0.0220389	6	96				
PTPRK	5796	broad.mit.edu	37	6	128306869	128306869	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:128306869C>T	ENST00000368215.3	-	22	3244	c.3245G>A	c.(3244-3246)tGc>tAc	p.C1082Y	PTPRK_ENST00000368210.3_Missense_Mutation_p.C1101Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.C1083Y|PTPRK_ENST00000368227.3_Missense_Mutation_p.C1100Y|PTPRK_ENST00000368213.5_Missense_Mutation_p.C1089Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.C1105Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.C1115Y			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1082	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACTTACCTGCAATGTACAAC	0.468																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3298-3300)tGc>tAc		protein tyrosine phosphatase, receptor type, K							137.0	127.0	130.0					6																	128306869		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128306869C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3245G>A	6.37:g.128306869C>T	ENSP00000357198:p.Cys1082Tyr					PTPRK_ENST00000368226.4_Missense_Mutation_p.C1083Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.C1082Y|PTPRK_ENST00000368213.5_Missense_Mutation_p.C1089Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.C1115Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.C1105Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.C1101Y	p.C1100Y			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	23	3665	-			1082			Tyrosine-protein phosphatase 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3299G>A		.	.	.	.	.	.	.	.	.	.	C	25.0	4.591514	0.86953	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	H	0.99906	4.925	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;0.999;0.999	D	0.95653	0.8708	10	0.87932	D	0	.	20.0864	0.97801	0.0:1.0:0.0:0.0	.	1105;1089;1082;1083	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	Y	1083;1100;1105;1089;1101;1082;1115	ENSP00000357209:C1083Y;ENSP00000357210:C1100Y;ENSP00000432973:C1105Y;ENSP00000357196:C1089Y;ENSP00000357193:C1101Y;ENSP00000357198:C1082Y;ENSP00000357190:C1115Y	ENSP00000357190:C1115Y	C	-	2	0	PTPRK	128348562	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.794000	0.85869	2.753000	0.94483	0.650000	0.86243	TGC		0.468	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			5	50	0	0	0	1	0	5	50				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		6	193	0	0	0	1	0	6	193				
DLG4	1742	broad.mit.edu	37	17	7099579	7099579	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:7099579C>A	ENST00000399506.2	-	11	1452	c.1261G>T	c.(1261-1263)Gcg>Tcg	p.A421S	DLG4_ENST00000399510.2_Missense_Mutation_p.A464S|DLG4_ENST00000302955.6_Missense_Mutation_p.A418S			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	421					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGCAGGGACGCAGTCCCTGAG	0.602																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1390-1392)Gcg>Tcg		discs, large homolog 4 (Drosophila)							58.0	61.0	60.0					17																	7099579		1991	4177	6168	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7099579C>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1261G>T	17.37:g.7099579C>A	ENSP00000382425:p.Ala421Ser					DLG4_ENST00000302955.6_Missense_Mutation_p.A418S|DLG4_ENST00000399506.2_Missense_Mutation_p.A421S	p.A464S	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			13	2242	-			421			SH3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1390G>T		.	.	.	.	.	.	.	.	.	.	C	9.525	1.109310	0.20714	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.12361	2.7;2.7;2.69	4.64	4.64	0.57946	Src homology-3 domain (1);	.	.	.	.	T	0.15089	0.0364	L	0.36672	1.1	0.26345	N	0.977297	B;B;B;B	0.24963	0.002;0.002;0.115;0.086	B;B;B;B	0.32928	0.006;0.006;0.108;0.155	T	0.14671	-1.0464	9	0.29301	T	0.29	.	15.0591	0.71939	0.0:1.0:0.0:0.0	.	461;421;418;464	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	S	421;418;464;464;361;464	ENSP00000382425:A421S;ENSP00000307471:A418S;ENSP00000382428:A464S	ENSP00000293813:A464S	A	-	1	0	DLG4	7040303	0.964000	0.33143	0.925000	0.36789	0.111000	0.19643	2.472000	0.45136	2.395000	0.81488	0.585000	0.79938	GCG		0.602	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		6	67	1	0	2.7689e-08	1	3.51934e-08	6	67				
ROCK1P1	727758	broad.mit.edu	37	18	117158	117158	+	RNA	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr18:117158A>G	ENST00000608049.1	+	0	584					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCTACACTCTACCACTTTCCT	0.438																																						ENST00000576266.1																			0																																																			727758							g.chr18:117158A>G			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.117158A>G														0	383	+									RNA	SNP	ENST00000608049.1	37																																																																																						0.438	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			5	33	0	0	0	1	0	5	33				
PCLO	27445	broad.mit.edu	37	7	82584423	82584423	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:82584423C>A	ENST00000333891.9	-	5	6183	c.5846G>T	c.(5845-5847)gGg>gTg	p.G1949V	PCLO_ENST00000423517.2_Missense_Mutation_p.G1949V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTAGCATCCCACCATACAA	0.368																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5845-5847)gGg>gTg		piccolo presynaptic cytomatrix protein							71.0	70.0	70.0					7																	82584423		1847	4082	5929	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584423C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5846G>T	7.37:g.82584423C>A	ENSP00000334319:p.Gly1949Val					PCLO_ENST00000333891.8_Missense_Mutation_p.G1949V	p.G1949V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6183	-			1880						Missense_Mutation	SNP	ENST00000333891.9	37	c.5846G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521328	0.27211	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.27402	1.67;1.69	5.57	5.57	0.84162	.	.	.	.	.	T	0.54111	0.1838	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54214	-0.8327	9	0.87932	D	0	.	19.5403	0.95271	0.0:1.0:0.0:0.0	.	1949;1949	Q9Y6V0-5;Q9Y6V0-6	.;.	V	1880;1949;1949	ENSP00000334319:G1949V;ENSP00000388393:G1949V	ENSP00000334319:G1949V	G	-	2	0	PCLO	82422359	1.000000	0.71417	0.937000	0.37676	0.790000	0.44656	7.461000	0.80834	2.619000	0.88677	0.655000	0.94253	GGG		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	70	1	0	0.150653	1	0.151769	4	70				
NUP205	23165	broad.mit.edu	37	7	135328051	135328051	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:135328051A>T	ENST00000285968.6	+	39	5530	c.5504A>T	c.(5503-5505)cAg>cTg	p.Q1835L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1835					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTCATCGACAGAGTGTCAGC	0.448																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(5503-5505)cAg>cTg		nucleoporin 205kDa							93.0	84.0	87.0					7																	135328051		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135328051A>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5504A>T	7.37:g.135328051A>T	ENSP00000285968:p.Gln1835Leu						p.Q1835L	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			39	5530	+			1835					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.5504A>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	a	14.44	2.537467	0.45176	.	.	ENSG00000155561	ENST00000285968	T	0.31769	1.48	5.7	1.35	0.21983	.	0.208997	0.51477	D	0.000093	T	0.15349	0.0370	N	0.19112	0.55	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.10019	-1.0648	10	0.16420	T	0.52	-13.2267	6.9401	0.24488	0.6896:0.0:0.3104:0.0	.	1835	Q92621	NU205_HUMAN	L	1835	ENSP00000285968:Q1835L	ENSP00000285968:Q1835L	Q	+	2	0	NUP205	134978591	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	4.033000	0.57282	0.350000	0.24002	-0.248000	0.11899	CAG		0.448	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			10	77	0	0	0	1	0	10	77				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	27	0	0	0	1	0	4	27				
NRDE2	55051	broad.mit.edu	37	14	90755014	90755014	+	Missense_Mutation	SNP	C	C	T	rs149141901	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:90755014C>T	ENST00000354366.3	-	11	2937	c.2705G>A	c.(2704-2706)cGc>cAc	p.R902H	NRDE2_ENST00000357904.3_Missense_Mutation_p.R671H	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	902																	GCTAATTAGGCGGCTACAGGA	0.483													C|||	10	0.00199681	0.0076	0.0	5008	,	,		21575	0.0		0.0	False		,,,				2504	0.0					ENST00000354366.3																			0											c.(2704-2706)cGc>cAc		NRDE-2, necessary for RNA interference, domain containing		C	HIS/ARG,HIS/ARG	39,4367	43.1+/-76.7	0,39,2164	60.0	57.0	58.0		2705,2012	1.6	0.7	14	dbSNP_134	58	0,8600		0,0,4300	yes	missense,missense	C14orf102	NM_017970.3,NM_199043.1	29,29	0,39,6464	TT,TC,CC		0.0,0.8852,0.2999	benign,benign	902/1165,671/934	90755014	39,12967	2203	4300	6503	SO:0001583	missense	55051							g.chr14:90755014C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2705G>A	14.37:g.90755014C>T	ENSP00000346335:p.Arg902His					NRDE2_ENST00000357904.3_Missense_Mutation_p.R671H	p.R902H	NM_017970.3	NP_060440.2					11	2937	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2705G>A	CCDS9890.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	0.059	-1.229868	0.01518	0.008852	0.0	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.30714	1.88;1.52	4.66	1.61	0.23674	.	0.608319	0.16433	N	0.214638	T	0.11495	0.0280	N	0.21142	0.635	0.09310	N	0.999991	B;B	0.12630	0.002;0.006	B;B	0.06405	0.001;0.002	T	0.25187	-1.0139	10	0.15066	T	0.55	-3.2257	6.8874	0.24209	0.0:0.587:0.0:0.413	.	671;902	E9PBK4;Q9H7Z3	.;CN102_HUMAN	H	902;671	ENSP00000346335:R902H;ENSP00000350579:R671H	ENSP00000346335:R902H	R	-	2	0	C14orf102	89824767	0.996000	0.38824	0.710000	0.30468	0.013000	0.08279	1.709000	0.37909	0.587000	0.29643	-0.806000	0.03193	CGC		0.483	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		5	54	0	0	0	1	0	5	54				
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:29761676C>G	ENST00000457107.1	+	0	902									major histocompatibility complex, class I, V (pseudogene)																		gagagggtttcatattcaaga	0.493																																						ENST00000457107.1																			0																																																			352962							g.chr6:29761676C>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761676C>G														0	902	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.493	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	27	0	0	0	1	0	3	27				
S1PR1	1901	broad.mit.edu	37	1	101705578	101705578	+	Silent	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:101705578C>T	ENST00000305352.6	+	2	1413	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	346					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCATCATCGCCGGCATGGAAT	0.552																																						ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(1036-1038)gcC>gcT		sphingosine-1-phosphate receptor 1							75.0	80.0	78.0					1																	101705578		2202	4300	6502	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705578C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.1038C>T	1.37:g.101705578C>T							p.A346A	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1413	+			346					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.1038C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	4.007	-0.001376	0.07819	.	.	ENSG00000170989	ENST00000424264	.	.	.	5.24	-10.5	0.00291	.	.	.	.	.	T	0.07818	0.0196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54029	-0.8354	5	0.11794	T	0.64	.	1.0666	0.01612	0.2996:0.0925:0.2841:0.3239	.	.	.	.	L	329	.	ENSP00000413066:P329L	P	+	2	0	S1PR1	101478166	0.001000	0.12720	0.005000	0.12908	0.758000	0.43043	-1.713000	0.01883	-4.402000	0.00051	0.305000	0.20034	CCG		0.552	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		10	166	0	0	0	1	0	10	166				
FAT4	79633	broad.mit.edu	37	4	126372252	126372252	+	Missense_Mutation	SNP	C	C	A	rs61163957		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:126372252C>A	ENST00000394329.3	+	9	10094	c.10081C>A	c.(10081-10083)Ctt>Att	p.L3361I	FAT4_ENST00000335110.5_Missense_Mutation_p.L1659I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3361	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3361V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTGGAATTCTTGATCGAGA	0.403																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.L3361V(2)	large_intestine(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10081-10083)Ctt>Att		FAT atypical cadherin 4							117.0	120.0	119.0					4																	126372252		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372252C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10081C>A	4.37:g.126372252C>A	ENSP00000377862:p.Leu3361Ile					FAT4_ENST00000335110.5_Missense_Mutation_p.L1659I	p.L3361I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10094	+			3361			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10081C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210858	0.39102	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.73469	-0.75;-0.75	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.31450	U	0.007623	D	0.85470	0.5704	M	0.67569	2.06	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.91635	0.996;0.999;0.994	D	0.85524	0.1205	10	0.49607	T	0.09	.	18.9292	0.92558	0.0:1.0:0.0:0.0	.	1659;3361;3361	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	3361;1659	ENSP00000377862:L3361I;ENSP00000335169:L1659I	ENSP00000335169:L1659I	L	+	1	0	FAT4	126591702	1.000000	0.71417	0.993000	0.49108	0.052000	0.14988	5.919000	0.70005	2.461000	0.83175	0.655000	0.94253	CTT		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	162	1	0	4.3838e-07	1	5.27608e-07	12	162				
APC	324	broad.mit.edu	37	5	112174647	112174647	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:112174647A>G	ENST00000457016.1	+	16	3736	c.3356A>G	c.(3355-3357)cAt>cGt	p.H1119R	APC_ENST00000508376.2_Missense_Mutation_p.H1119R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.H1119R			P25054	APC_HUMAN	adenomatous polyposis coli	1119	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGTTCTAATCATGGAATTAAT	0.408		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(3355-3357)cAt>cGt		adenomatous polyposis coli							87.0	79.0	81.0					5																	112174647		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174647A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3356A>G	5.37:g.112174647A>G	ENSP00000413133:p.His1119Arg	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.H1119R|APC_ENST00000257430.4_Missense_Mutation_p.H1119R	p.H1119R			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3736	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1119			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3356A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239267	0.22711	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94000	-2.6;-3.33;-2.6;-2.6;-2.76	5.56	4.38	0.52667	.	0.220560	0.42294	D	0.000740	D	0.87293	0.6141	N	0.24115	0.695	0.34576	D	0.713929	B;B	0.31100	0.308;0.308	B;B	0.34991	0.193;0.193	D	0.85646	0.1279	10	0.24483	T	0.36	-15.1826	10.0423	0.42166	0.6125:0.0:0.0:0.3875	.	1121;1119	Q4LE70;P25054	.;APC_HUMAN	R	1119;1101;1119;1119;1119	ENSP00000413133:H1119R;ENSP00000423224:H1101R;ENSP00000257430:H1119R;ENSP00000427089:H1119R;ENSP00000423828:H1119R	ENSP00000257430:H1119R	H	+	2	0	APC	112202546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.155000	0.58131	0.922000	0.37019	0.533000	0.62120	CAT		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		9	80	0	0	0	1	0	9	80				
HLA-A	3105	broad.mit.edu	37	6	29912156	29912156	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:29912156C>A	ENST00000396634.1	+	6	1218	c.877C>A	c.(877-879)Ccc>Acc	p.P293T	HLA-A_ENST00000376809.5_Missense_Mutation_p.P293T|HLA-A_ENST00000376806.5_Missense_Mutation_p.P293T|HLA-A_ENST00000376802.2_Missense_Mutation_p.P293T			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	293	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTGCCCAAGCCCCTCACCCT	0.602									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(877-879)Ccc>Acc		major histocompatibility complex, class I, A							70.0	62.0	64.0					6																	29912156		1511	2709	4220	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912156C>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.877C>A	6.37:g.29912156C>A	ENSP00000379873:p.Pro293Thr	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.P293T|HLA-A_ENST00000376802.2_Missense_Mutation_p.P293T|HLA-A_ENST00000376806.5_Missense_Mutation_p.P293T	p.P293T			P30443	1A01_HUMAN			6	1218	+			293			Alpha-3.|Ig-like C1-type.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.877C>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	4.816	0.151629	0.09185	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	3.69	2.78	0.32641	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.000000	0.41396	U	0.000900	T	0.26882	0.0658	M	0.82433	2.59	0.25572	N	0.986887	P;B;D;B;D;B;B	0.76494	0.946;0.001;0.999;0.001;0.999;0.001;0.001	D;B;D;B;D;B;B	0.85130	0.933;0.013;0.997;0.021;0.997;0.013;0.013	T	0.04467	-1.0949	10	0.72032	D	0.01	.	8.4032	0.32599	0.2337:0.7663:0.0:0.0	.	172;293;293;293;293;293;293	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	T	293;293;81;293;293	ENSP00000379873:P293T;ENSP00000366002:P293T;ENSP00000366005:P293T;ENSP00000365998:P293T	ENSP00000365998:P293T	P	+	1	0	HLA-A	30020135	0.031000	0.19500	0.877000	0.34402	0.663000	0.39108	0.389000	0.20751	0.853000	0.35312	0.485000	0.47835	CCC		0.602	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		11	90	1	0	1.08611e-07	1	1.34282e-07	11	90				
SHC4	399694	broad.mit.edu	37	15	49148244	49148244	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:49148244G>A	ENST00000332408.4	-	8	1576	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	SHC4_ENST00000396535.3_Missense_Mutation_p.P140L|SHC4_ENST00000537958.1_Missense_Mutation_p.P97L	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	383	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACCTACTGGTGGCTGCTTCCC	0.438																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1147-1149)cCa>cTa		SHC (Src homology 2 domain containing) family, member 4							158.0	147.0	151.0					15																	49148244		2197	4294	6491	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49148244G>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1148C>T	15.37:g.49148244G>A	ENSP00000329668:p.Pro383Leu					SHC4_ENST00000537958.1_Missense_Mutation_p.P97L|SHC4_ENST00000396535.3_Missense_Mutation_p.P140L	p.P383L	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	8	1576	-		all_lung(180;0.00466)	383			CH1.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.1148C>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116286	0.77323	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.54675	2.46;0.56;0.66	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000003	T	0.58736	0.2143	L	0.58510	1.815	0.80722	D	1	P;P	0.42409	0.681;0.779	P;P	0.46510	0.519;0.452	T	0.63413	-0.6643	10	0.62326	D	0.03	-27.3545	16.961	0.86272	0.0:0.0:1.0:0.0	.	140;383	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	L	383;140;97	ENSP00000329668:P383L;ENSP00000379786:P140L;ENSP00000443300:P97L	ENSP00000329668:P383L	P	-	2	0	SHC4	46935536	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.052000	0.71080	2.531000	0.85337	0.655000	0.94253	CCA		0.438	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		9	135	0	0	0	1	0	9	135				
CYFIP2	26999	broad.mit.edu	37	5	156741411	156741411	+	Silent	SNP	C	C	T	rs139943836	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:156741411C>T	ENST00000521420.1	+	11	1183	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	CYFIP2_ENST00000377576.3_Silent_p.F390F|CYFIP2_ENST00000318218.6_Silent_p.F390F|CYFIP2_ENST00000522463.1_Silent_p.F194F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.F315F|CYFIP2_ENST00000435847.2_Silent_p.F64F|CYFIP2_ENST00000347377.6_Silent_p.F390F					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGAGCTCTTCGACCTAGCCC	0.597													C|||	4	0.000798722	0.0	0.0014	5008	,	,		16212	0.0		0.003	False		,,,				2504	0.0					ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1168-1170)ttC>ttT		cytoplasmic FMR1 interacting protein 2		C	,,	1,4071		0,1,2035	100.0	104.0	103.0		1170,1170,1170	-0.7	1.0	5	dbSNP_134	103	27,8355		0,27,4164	no	coding-synonymous,coding-synonymous,coding-synonymous	CYFIP2	NM_001037332.2,NM_001037333.1,NM_014376.2	,,	0,28,6199	TT,TC,CC		0.3221,0.0246,0.2248	,,	390/1254,390/1254,390/1254	156741411	28,12426	2036	4191	6227	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156741411C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1092C>T	5.37:g.156741411C>T						CYFIP2_ENST00000377576.3_Silent_p.F390F|CYFIP2_ENST00000318218.6_Silent_p.F390F|CYFIP2_ENST00000522463.1_Silent_p.F194F|CYFIP2_ENST00000541131.1_Silent_p.F315F|CYFIP2_ENST00000521420.1_Silent_p.F364F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Silent_p.F64F	p.F390F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1601	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	390						Silent	SNP	ENST00000521420.1	37	c.1170C>T																																																																																					0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		4	69	0	0	0	1	0	4	69				
LRP1B	53353	broad.mit.edu	37	2	141459330	141459330	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:141459330G>T	ENST00000389484.3	-	40	7358	c.6387C>A	c.(6385-6387)aaC>aaA	p.N2129K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2129					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCCTTCAGGTTGACTCCAA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6385-6387)aaC>aaA		low density lipoprotein receptor-related protein 1B							138.0	128.0	132.0					2																	141459330		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459330G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6387C>A	2.37:g.141459330G>T	ENSP00000374135:p.Asn2129Lys	TSP Lung(27;0.18)					p.N2129K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	40	7358	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2129					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6387C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905503	0.33628	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89270	-2.49	4.58	3.7	0.42460	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	T	0.78483	0.4290	N	0.25957	0.775	0.40738	D	0.982804	P	0.37061	0.58	B	0.35114	0.196	T	0.75701	-0.3226	10	0.05436	T	0.98	.	12.8006	0.57584	0.0797:0.0:0.9203:0.0	.	2129	Q9NZR2	LRP1B_HUMAN	K	2129;2067	ENSP00000374135:N2129K	ENSP00000374135:N2129K	N	-	3	2	LRP1B	141175800	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.529000	0.35996	1.137000	0.42214	0.467000	0.42956	AAC		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	131	1	0	0.00010058	1	0.000113991	11	131				
LGI2	55203	broad.mit.edu	37	4	25005442	25005442	+	Silent	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:25005442C>T	ENST00000382114.4	-	8	1454	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	423						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGAAGCTCTTCACAGCCAGTA	0.537																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1267-1269)gtG>gtA		leucine-rich repeat LGI family, member 2							210.0	219.0	216.0					4																	25005442		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25005442C>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1269G>A	4.37:g.25005442C>T							p.V423V	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1454	-		Breast(46;0.173)	423					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.1269G>A	CCDS3431.1																																																																																				0.537	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			20	393	0	0	0	1	0	20	393				
ADAMTS14	140766	broad.mit.edu	37	10	72489903	72489903	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr10:72489903C>A	ENST00000373207.1	+	6	1000	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.Q334K	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	334	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGCCTGGAGCAGGTGTGTCG	0.667																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1000-1002)Cag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 14							73.0	70.0	71.0					10																	72489903		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489903C>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1000C>A	10.37:g.72489903C>A	ENSP00000362303:p.Gln334Lys					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.Q334K	p.Q334K	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			6	1000	+			334			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1000C>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602191	0.87055	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.86097	-2.07;-2.07	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	N	0.25890	0.77	0.43394	D	0.995511	P;P	0.46064	0.872;0.772	P;P	0.49192	0.602;0.602	D	0.85997	0.1492	10	0.72032	D	0.01	.	17.8161	0.88634	0.0:1.0:0.0:0.0	.	334;334	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	K	334	ENSP00000362304:Q334K;ENSP00000362303:Q334K	ENSP00000362303:Q334K	Q	+	1	0	ADAMTS14	72159909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.641000	0.61375	2.608000	0.88229	0.655000	0.94253	CAG		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		10	63	1	0	1.08611e-07	1	1.34282e-07	10	63				
ARSK	153642	broad.mit.edu	37	5	94939042	94939042	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:94939042A>C	ENST00000380009.4	+	8	1628	c.1423A>C	c.(1423-1425)Aaa>Caa	p.K475Q		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	475					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AAACTACCCTAAAGTTTCTGC	0.333																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(1423-1425)Aaa>Caa		arylsulfatase family, member K							30.0	30.0	30.0					5																	94939042		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94939042A>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1423A>C	5.37:g.94939042A>C	ENSP00000369346:p.Lys475Gln						p.K475Q	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	8	1628	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	475					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.1423A>C	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.437629	0.25900	.	.	ENSG00000164291	ENST00000380009	D	0.98329	-4.87	5.3	1.27	0.21489	.	0.510022	0.23336	N	0.049286	D	0.94902	0.8352	L	0.46157	1.445	0.09310	N	0.999997	B	0.19817	0.039	B	0.11329	0.006	D	0.87342	0.2332	10	0.27785	T	0.31	-4.0437	6.3763	0.21509	0.7194:0.131:0.1497:0.0	.	475	Q6UWY0	ARSK_HUMAN	Q	475	ENSP00000369346:K475Q	ENSP00000369346:K475Q	K	+	1	0	ARSK	94964798	0.518000	0.26234	0.979000	0.43373	0.947000	0.59692	1.175000	0.31944	0.033000	0.15463	-0.408000	0.06270	AAA		0.333	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		7	56	0	0	0	1	0	7	56				
TCEAL2	140597	broad.mit.edu	37	X	101381930	101381930	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:101381930A>G	ENST00000372780.1	+	3	347	c.128A>G	c.(127-129)aAc>aGc	p.N43S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.N43S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAGTTAGAAAACGAGGGAAAC	0.453																																						ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(127-129)aAc>aGc		transcription elongation factor A (SII)-like 2							109.0	100.0	103.0					X																	101381930		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101381930A>G	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.128A>G	X.37:g.101381930A>G	ENSP00000361866:p.Asn43Ser					TCEAL2_ENST00000329035.2_Missense_Mutation_p.N43S	p.N43S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	347	+			43					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.128A>G	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	-	14.14	2.447280	0.43429	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.12039	2.72;2.72	3.25	3.25	0.37280	.	0.169568	0.28252	N	0.016029	T	0.24353	0.0590	M	0.65975	2.015	0.09310	N	1	D	0.56287	0.975	P	0.56042	0.79	T	0.02893	-1.1097	10	0.52906	T	0.07	.	7.2727	0.26266	1.0:0.0:0.0:0.0	.	43	Q9H3H9	TCAL2_HUMAN	S	43	ENSP00000361866:N43S;ENSP00000332359:N43S	ENSP00000332359:N43S	N	+	2	0	TCEAL2	101268586	0.064000	0.20934	0.002000	0.10522	0.042000	0.13812	0.901000	0.28445	1.527000	0.49086	0.425000	0.28330	AAC		0.453	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		6	34	0	0	0	1	0	6	34				
FNIP1	96459	broad.mit.edu	37	5	130987629	130987629	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:130987629T>A	ENST00000510461.1	-	16	3267	c.3172A>T	c.(3172-3174)Act>Tct	p.T1058S	FNIP1_ENST00000307968.7_Missense_Mutation_p.T1030S|FNIP1_ENST00000307954.8_Missense_Mutation_p.T1013S|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1058					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACTTGAACAGTCCATTTATCC	0.383																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3088-3090)Act>Tct		folliculin interacting protein 1							108.0	99.0	102.0					5																	130987629		2203	4300	6503	SO:0001583	missense	96459							g.chr5:130987629T>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3172A>T	5.37:g.130987629T>A	ENSP00000421985:p.Thr1058Ser					FNIP1_ENST00000510461.1_Missense_Mutation_p.T1058S|FNIP1_ENST00000307954.8_Missense_Mutation_p.T1013S|FNIP1_ENST00000514667.1_Intron	p.T1030S	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	15	3087	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3088A>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665719	0.29604	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.12569	2.67;2.67;2.68	5.82	5.82	0.92795	.	.	.	.	.	T	0.10165	0.0249	N	0.25201	0.72	0.80722	D	1	B;B	0.33637	0.126;0.42	B;B	0.30782	0.12;0.12	T	0.28267	-1.0049	9	0.16896	T	0.51	-8.5499	16.1814	0.81903	0.0:0.0:0.0:1.0	.	1030;1058	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	S	1030;1013;810;1058	ENSP00000309266:T1030S;ENSP00000310453:T1013S;ENSP00000421985:T1058S	ENSP00000310453:T1013S	T	-	1	0	FNIP1	131015528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.139000	0.71728	2.234000	0.73211	0.533000	0.62120	ACT		0.383	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		9	98	0	0	0	1	0	9	98				
PRKCB	5579	broad.mit.edu	37	16	24104219	24104219	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:24104219A>G	ENST00000321728.7	+	6	812	c.637A>G	c.(637-639)Aaa>Gaa	p.K213E	PRKCB_ENST00000303531.7_Missense_Mutation_p.K213E|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	213	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACAGAAGACCAAAACCATCAA	0.458																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(637-639)Aaa>Gaa		protein kinase C, beta	Vitamin E(DB00163)						171.0	142.0	152.0					16																	24104219		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104219A>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.637A>G	16.37:g.24104219A>G	ENSP00000318315:p.Lys213Glu					PRKCB_ENST00000321728.7_Missense_Mutation_p.K213E|PRKCB_ENST00000482000.1_3'UTR	p.K213E	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	789	+			213			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.637A>G	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816247	0.70912	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.70045	-0.45;-0.45	5.38	5.38	0.77491	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	T	0.66925	0.2839	L	0.33137	0.985	0.80722	D	1	B;P	0.37731	0.149;0.607	B;P	0.49421	0.16;0.61	T	0.64504	-0.6392	10	0.30854	T	0.27	.	14.8652	0.70409	1.0:0.0:0.0:0.0	.	213;213	P05771-2;P05771	.;KPCB_HUMAN	E	213	ENSP00000318315:K213E;ENSP00000305355:K213E	ENSP00000305355:K213E	K	+	1	0	PRKCB	24011720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.823000	0.92018	2.165000	0.68154	0.528000	0.53228	AAA		0.458	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		5	111	0	0	0	1	0	5	111				
LTBP4	8425	broad.mit.edu	37	19	41133153	41133153	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:41133153A>T	ENST00000308370.7	+	32	4457	c.4457A>T	c.(4456-4458)gAg>gTg	p.E1486V	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.E854V|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1419V|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1449V	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1487	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCGAATCTGAGGCTCCTGCG	0.701																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4456-4458)gAg>gTg		latent transforming growth factor beta binding protein 4							13.0	16.0	15.0					19																	41133153		1960	4138	6098	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133153A>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4457A>T	19.37:g.41133153A>T	ENSP00000311905:p.Glu1486Val					LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1449V|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1419V|LTBP4_ENST00000545697.1_Missense_Mutation_p.E854V	p.E1486V	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4457	+			1487			Pro-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4457A>T		.	.	.	.	.	.	.	.	.	.	A	14.62	2.590027	0.46214	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;D;T;T	0.84146	-1.48;-1.81;-1.49;-1.47	4.46	2.32	0.28847	.	0.000000	0.37483	N	0.002061	D	0.88115	0.6350	.	.	.	0.40457	D	0.980201	B;B;B;B;B;D	0.57899	0.435;0.232;0.149;0.308;0.308;0.981	B;B;B;B;B;D	0.69824	0.249;0.249;0.127;0.193;0.127;0.966	D	0.84592	0.0667	9	0.31617	T	0.26	.	5.895	0.18935	0.7817:0.0:0.2183:0.0	.	247;499;707;1419;1487;1449	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	V	1449;854;1486;1419;247	ENSP00000204005:E1449V;ENSP00000441054:E854V;ENSP00000311905:E1486V;ENSP00000380031:E1419V	ENSP00000204005:E1449V	E	+	2	0	LTBP4	45824993	1.000000	0.71417	0.963000	0.40424	0.486000	0.33341	3.458000	0.53014	0.768000	0.33290	0.533000	0.62120	GAG		0.701	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		5	20	0	0	0	1	0	5	20				
NTRK3	4916	broad.mit.edu	37	15	88423650	88423650	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:88423650G>T	ENST00000360948.2	-	18	2346	c.2185C>A	c.(2185-2187)Cac>Aac	p.H729N	NTRK3_ENST00000557856.1_Missense_Mutation_p.H707N|NTRK3_ENST00000394480.2_Missense_Mutation_p.H715N|NTRK3_ENST00000357724.2_Missense_Mutation_p.H721N|NTRK3_ENST00000355254.2_Missense_Mutation_p.H715N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	729	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCATGGTGTGTCCTCCCACC	0.507			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(2143-2145)Cac>Aac		neurotrophic tyrosine kinase, receptor, type 3							86.0	70.0	76.0					15																	88423650		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88423650G>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2185C>A	15.37:g.88423650G>T	ENSP00000354207:p.His729Asn	TSP Lung(13;0.10)				NTRK3_ENST00000360948.2_Missense_Mutation_p.H729N|NTRK3_ENST00000557856.1_Missense_Mutation_p.H707N|NTRK3_ENST00000355254.2_Missense_Mutation_p.H715N|NTRK3_ENST00000357724.2_Missense_Mutation_p.H721N	p.H715N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2464	-			729			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2143C>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358077	0.82243	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80243	0.4587	N	0.12637	0.245	0.80722	D	1	D;D;D	0.62365	0.973;0.991;0.973	D;P;D	0.64506	0.926;0.889;0.926	T	0.80082	-0.1531	10	0.30854	T	0.27	.	17.9204	0.88964	0.0:0.0:1.0:0.0	.	707;715;729	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	N	715;729;721;715	ENSP00000377990:H715N;ENSP00000354207:H729N;ENSP00000350356:H721N;ENSP00000347397:H715N	ENSP00000347397:H715N	H	-	1	0	NTRK3	86224654	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.637000	0.83313	2.562000	0.86427	0.655000	0.94253	CAC		0.507	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				5	28	1	0	0.000602214	1	0.000665863	5	28				
ZNF608	57507	broad.mit.edu	37	5	123982540	123982540	+	Silent	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:123982540C>T	ENST00000306315.5	-	4	3972	c.3537G>A	c.(3535-3537)gaG>gaA	p.E1179E	ZNF608_ENST00000504926.1_Silent_p.E752E|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1179							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATTTACCTGTCTCCTCAGTTT	0.473																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3535-3537)gaG>gaA		zinc finger protein 608							163.0	156.0	159.0					5																	123982540		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123982540C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3537G>A	5.37:g.123982540C>T						ZNF608_ENST00000504926.1_Silent_p.E752E	p.E1179E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3972	-		all_cancers(142;0.186)|Prostate(80;0.081)	1179					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.3537G>A	CCDS34219.1																																																																																				0.473	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		6	151	0	0	0	1	0	6	151				
NOBOX	135935	broad.mit.edu	37	7	144098481	144098481	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:144098481G>T	ENST00000467773.1	-	4	501	c.502C>A	c.(502-504)Cac>Aac	p.H168N	NOBOX_ENST00000483238.1_Missense_Mutation_p.H168N|NOBOX_ENST00000223140.5_Missense_Mutation_p.H83N	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	168					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTGTCTTTGTGGGGAGCCCTG	0.617																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(502-504)Cac>Aac		NOBOX oogenesis homeobox							22.0	25.0	24.0					7																	144098481		1867	4091	5958	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098481G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.502C>A	7.37:g.144098481G>T	ENSP00000419457:p.His168Asn					NOBOX_ENST00000483238.1_Missense_Mutation_p.H168N|NOBOX_ENST00000223140.5_Missense_Mutation_p.H83N	p.H168N	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			4	501	-	Melanoma(164;0.14)		168					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.502C>A		.	.	.	.	.	.	.	.	.	.	G	12.25	1.881635	0.33255	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.93859	-2.87;-3.3;-2.83	4.15	2.3	0.28687	.	1.166430	0.06721	U	0.774967	D	0.88706	0.6509	L	0.32530	0.975	0.09310	N	1	P	0.48764	0.915	B	0.41764	0.366	T	0.78578	-0.2150	10	0.40728	T	0.16	-3.8631	6.6206	0.22800	0.0:0.1981:0.597:0.2048	.	168	O60393	NOBOX_HUMAN	N	168;168;83	ENSP00000419565:H168N;ENSP00000419457:H168N;ENSP00000223140:H83N	ENSP00000223140:H83N	H	-	1	0	NOBOX	143729414	0.014000	0.17966	0.002000	0.10522	0.096000	0.18686	0.893000	0.28336	0.379000	0.24794	0.555000	0.69702	CAC		0.617	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		4	45	1	0	0.150653	1	0.151769	4	45				
MFAP3L	9848	broad.mit.edu	37	4	170913248	170913248	+	Missense_Mutation	SNP	G	G	A	rs202167757		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:170913248G>A	ENST00000361618.3	-	3	818	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	MFAP3L_ENST00000393704.3_Missense_Mutation_p.R68C|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R171S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGCACAGGCGGGTGATATTG	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20788	0.0		0.0	False		,,,				2504	0.0					ENST00000361618.3																			1	Substitution - Missense(1)	p.R171S(1)	lung(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(511-513)Cgc>Tgc		microfibrillar-associated protein 3-like							135.0	128.0	131.0					4																	170913248		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170913248G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.511C>T	4.37:g.170913248G>A	ENSP00000354583:p.Arg171Cys					RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R68C	p.R171C	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	818	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	171					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.511C>T	CCDS34103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.98	3.520660	0.64747	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698	D;D;D	0.98345	-4.88;-1.94;-4.78	5.54	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98550	1.0636	10	0.66056	D	0.02	-4.5256	13.6308	0.62193	0.0:0.0:0.7315:0.2685	.	171	O75121	MFA3L_HUMAN	C	68;171;68	ENSP00000377307:R68C;ENSP00000354583:R171C;ENSP00000422791:R68C	ENSP00000354583:R171C	R	-	1	0	MFAP3L	171149823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.218000	0.58554	2.602000	0.87976	0.555000	0.69702	CGC		0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		14	112	0	0	0	1	0	14	112				
MSANTD2	79684	broad.mit.edu	37	11	124670231	124670231	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:124670231T>A	ENST00000374979.3	-	1	54	c.46A>T	c.(46-48)Aaa>Taa	p.K16*	MSANTD2_ENST00000239614.4_Nonsense_Mutation_p.K16*|RP11-677M14.7_ENST00000529392.1_RNA|RP11-677M14.7_ENST00000499143.2_RNA|MSANTD2_ENST00000524950.1_Nonsense_Mutation_p.K16*			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	16																	TTCGGAATTTTTAGCGGCGAG	0.687																																						ENST00000239614.4																			0											c.(46-48)Aaa>Taa		Myb/SANT-like DNA-binding domain containing 2							10.0	13.0	12.0					11																	124670231		2145	4190	6335	SO:0001587	stop_gained	79684							g.chr11:124670231T>A	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.46A>T	11.37:g.124670231T>A	ENSP00000364118:p.Lys16*					MSANTD2_ENST00000524950.1_Nonsense_Mutation_p.K16*|MSANTD2_ENST00000374979.3_Nonsense_Mutation_p.K16*	p.K16*	NM_024631.2	NP_078907.2	Q6P1R3	CK061_HUMAN			1	338	-			16					B3KRY6|Q9H042|Q9H5K8	Nonsense_Mutation	SNP	ENST00000374979.3	37	c.46A>T		.	.	.	.	.	.	.	.	.	.	T	37	6.502552	0.97620	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000524950	.	.	.	4.75	4.75	0.60458	.	0.069965	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8532	13.2268	0.59919	0.0:0.0:0.0:1.0	.	.	.	.	X	16	.	ENSP00000239614:K16X	K	-	1	0	C11orf61	124175441	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.999000	0.63934	1.772000	0.52199	0.379000	0.24179	AAA		0.687	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		3	25	0	0	0	1	0	3	25				
OCLN	100506658	broad.mit.edu	37	5	68805003	68805003	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:68805003A>G	ENST00000355237.2	+	3	522	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	OCLN_ENST00000396442.2_Missense_Mutation_p.Y29C|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.Y29C	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	29					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AATGACATATATGGTGGAGAG	0.388																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(85-87)tAt>tGt		occludin							88.0	89.0	89.0					5																	68805003		2203	4300	6503	SO:0001583	missense	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805003A>G	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.86A>G	5.37:g.68805003A>G	ENSP00000347379:p.Tyr29Cys					OCLN_ENST00000380766.2_Missense_Mutation_p.Y29C|OCLN_ENST00000396442.2_Missense_Mutation_p.Y29C|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron	p.Y29C	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	522	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	29					B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.86A>G	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.091882	0.55968	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.77358	-1.08;-1.08;-1.09	5.91	4.74	0.60224	.	0.113072	0.64402	D	0.000007	D	0.84415	0.5467	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	D	0.85312	0.1079	10	0.72032	D	0.01	-50.2529	12.446	0.55651	0.8597:0.1403:0.0:0.0	.	29	Q16625	OCLN_HUMAN	C	29	ENSP00000347379:Y29C;ENSP00000379719:Y29C;ENSP00000370143:Y29C	ENSP00000347379:Y29C	Y	+	2	0	OCLN	68840759	1.000000	0.71417	0.735000	0.30896	0.897000	0.52465	4.696000	0.61774	1.044000	0.40200	0.379000	0.24179	TAT		0.388	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		5	157	0	0	0	1	0	5	157				
LPIN1	23175	broad.mit.edu	37	2	11943120	11943120	+	Silent	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:11943120C>T	ENST00000256720.2	+	14	1959	c.1866C>T	c.(1864-1866)gtC>gtT	p.V622V	LPIN1_ENST00000396097.1_Silent_p.V352V|LPIN1_ENST00000404113.2_Silent_p.V123V|LPIN1_ENST00000425416.2_Silent_p.V628V|LPIN1_ENST00000396099.1_Silent_p.V664V|LPIN1_ENST00000449576.2_Silent_p.V707V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	622					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCCTAATGTCAGCTACAAGA	0.552																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1864-1866)gtC>gtT		lipin 1							158.0	133.0	141.0					2																	11943120		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11943120C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1866C>T	2.37:g.11943120C>T						LPIN1_ENST00000404113.2_Silent_p.V123V|LPIN1_ENST00000449576.2_Silent_p.V707V|LPIN1_ENST00000396099.1_Silent_p.V664V|LPIN1_ENST00000396097.1_Silent_p.V352V|LPIN1_ENST00000425416.2_Silent_p.V628V	p.V622V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	14	1959	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		622					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.1866C>T	CCDS1682.1																																																																																				0.552	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		6	207	0	0	0	1	0	6	207				
AK5	26289	broad.mit.edu	37	1	77763264	77763264	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr1:77763264G>A	ENST00000354567.2	+	4	699	c.436G>A	c.(436-438)Ggt>Agt	p.G146S	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.G120S	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	146	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAGTGGAAAGGGTACTCAGAG	0.388																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(358-360)Ggt>Agt		adenylate kinase 5							142.0	141.0	141.0					1																	77763264		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763264G>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.436G>A	1.37:g.77763264G>A	ENSP00000346577:p.Gly146Ser					AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.G146S	p.G120S	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			4	1384	+			146					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.358G>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617529	0.96649	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	D;D;T	0.90563	-2.69;-2.69;-0.42	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.95446	0.8521	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.95174	0.8293	10	0.87932	D	0	-23.6695	20.0774	0.97750	0.0:0.0:1.0:0.0	.	146;122	Q9Y6K8;Q8N291	KAD5_HUMAN;.	S	146;120;120	ENSP00000346577:G146S;ENSP00000341430:G120S;ENSP00000434409:G120S	ENSP00000341430:G120S	G	+	1	0	AK5	77535852	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.406000	0.97321	2.828000	0.97474	0.650000	0.86243	GGT		0.388	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		9	110	0	0	0	1	0	9	110				
LAMB4	22798	broad.mit.edu	37	7	107704425	107704425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:107704425G>A	ENST00000388781.3	-	22	2925	c.2842C>T	c.(2842-2844)Cag>Tag	p.Q948*	LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q948*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q948*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	948	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTCCACACTGAGTACCTGAA	0.448																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2842-2844)Cag>Tag		laminin, beta 4							79.0	81.0	80.0					7																	107704425		2203	4300	6503	SO:0001587	stop_gained	22798				cell adhesion	basement membrane		g.chr7:107704425G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2842C>T	7.37:g.107704425G>A	ENSP00000373433:p.Gln948*					LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q948*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q948*	p.Q948*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			22	2925	-			948			Laminin EGF-like 9.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	ENST00000388781.3	37	c.2842C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	41	9.137585	0.99078	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	.	.	.	4.69	3.8	0.43715	.	0.279673	0.25777	N	0.028371	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.3594	0.32351	0.0795:0.0:0.7678:0.1527	.	.	.	.	X	948	.	ENSP00000205386:Q948X	Q	-	1	0	LAMB4	107491661	0.146000	0.22672	0.737000	0.30932	0.923000	0.55619	1.858000	0.39408	1.168000	0.42723	0.557000	0.71058	CAG		0.448	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		4	80	0	0	0	1	0	4	80				
EIF5A	1984	broad.mit.edu	37	17	7214723	7214723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:7214723C>T	ENST00000336458.8	+	4	726	c.325C>T	c.(325-327)Cga>Tga	p.R109*	EIF5A_ENST00000573542.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.R109*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.R139*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.R109*|GPS2_ENST00000391950.3_3'UTR	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	109				R -> P (in Ref. 3; AAD14095). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CGGGGAGGTACGAGAGGACCT	0.582																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(325-327)Cga>Tga		eukaryotic translation initiation factor 5A							154.0	141.0	145.0					17																	7214723		2203	4300	6503	SO:0001587	stop_gained	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214723C>T		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.325C>T	17.37:g.7214723C>T	ENSP00000336776:p.Arg109*					GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.R109*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.R139*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.R109*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.R109*	p.R109*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			4	726	+			109	R -> P (in Ref. 3; AAD14095).				A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Nonsense_Mutation	SNP	ENST00000336458.8	37	c.325C>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220449	0.95139	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.	.	.	4.45	3.4	0.38934	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-7.6028	13.2941	0.60286	0.1588:0.8412:0.0:0.0	.	.	.	.	X	139;109;109;109	.	ENSP00000336702:R139X	R	+	1	2	EIF5A	7155447	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.357000	0.52277	2.490000	0.84030	0.561000	0.74099	CGA		0.582	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		16	76	0	0	0	1	0	16	76				
PRR14	78994	broad.mit.edu	37	16	30667506	30667506	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:30667506G>T	ENST00000542965.2	+	11	2088	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.R544S			Q9BWN1	PRR14_HUMAN	proline rich 14	544										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAGGGGGCAGGACTGTTCCTC	0.642																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(1630-1632)agG>agT		proline rich 14							51.0	58.0	56.0					16																	30667506		2196	4300	6496	SO:0001583	missense	78994							g.chr16:30667506G>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1632G>T	16.37:g.30667506G>T	ENSP00000441641:p.Arg544Ser					PRR14_ENST00000300835.4_Missense_Mutation_p.R544S	p.R544S			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		11	2088	+			544					Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.1632G>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009782	0.54361	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.46063	0.88;0.88	6.07	2.62	0.31277	.	0.192014	0.45606	D	0.000354	T	0.39911	0.1096	L	0.54323	1.7	0.29679	N	0.841864	P	0.42692	0.787	B	0.44044	0.439	T	0.35400	-0.9790	10	0.40728	T	0.16	-6.3839	9.8385	0.40985	0.2574:0.0:0.7426:0.0	.	544	Q9BWN1	PRR14_HUMAN	S	517;544;544	ENSP00000300835:R544S;ENSP00000441641:R544S	ENSP00000287463:R517S	R	+	3	2	PRR14	30575007	0.998000	0.40836	0.934000	0.37439	0.689000	0.40095	2.541000	0.45735	0.884000	0.36064	0.650000	0.86243	AGG		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		5	102	1	0	0.014758	1	0.0152052	5	102				
RPS25	6230	broad.mit.edu	37	11	118888251	118888251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:118888251C>T	ENST00000527673.1	-	3	509	c.104G>A	c.(103-105)tGg>tAg	p.W35*	TRAPPC4_ENST00000359005.4_5'Flank|RPS25_ENST00000528547.1_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	35					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCCTTTGGACCACTTCTGCTC	0.408																																						ENST00000527673.1																			0				endometrium(1)	1						c.(103-105)tGg>tAg		ribosomal protein S25							43.0	46.0	45.0					11																	118888251		2200	4293	6493	SO:0001587	stop_gained	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888251C>T	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.104G>A	11.37:g.118888251C>T	ENSP00000435096:p.Trp35*						p.W35*	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	3	509	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	35					B2R4M7|P25111	Nonsense_Mutation	SNP	ENST00000527673.1	37	c.104G>A	CCDS8406.1	.	.	.	.	.	.	.	.	.	.	C	39	7.778135	0.98483	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0856	19.5248	0.95199	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000435096:W35X	W	-	2	0	RPS25	118393461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.723000	0.84788	2.624000	0.88883	0.650000	0.86243	TGG		0.408	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		13	82	0	0	0	1	0	13	82				
SON	6651	broad.mit.edu	37	21	34922188	34922188	+	Silent	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr21:34922188A>G	ENST00000356577.4	+	3	1126	c.651A>G	c.(649-651)gtA>gtG	p.V217V	SON_ENST00000300278.4_Silent_p.V217V|SON_ENST00000290239.6_Silent_p.V217V|SON_ENST00000381679.4_Silent_p.V217V|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	217					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTCAGTTGTATCTACATCAG	0.458											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(649-651)gtA>gtG		SON DNA binding protein							94.0	89.0	90.0					21																	34922188		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34922188A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.651A>G	21.37:g.34922188A>G			OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_ENST00000300278.4_Silent_p.V217V|SON_ENST00000381679.4_Silent_p.V217V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.V217V	p.V217V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	1126	+			217					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.651A>G	CCDS13629.1																																																																																				0.458	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		13	135	0	0	0	1	0	13	135				
HNRNPA3	220988	broad.mit.edu	37	2	178083789	178083789	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:178083789A>C	ENST00000392524.2	+	9	1223	c.986A>C	c.(985-987)tAt>tCt	p.Y329S	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.Y307S|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.Y329S			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	329	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTGGGAACTATAATGATTTT	0.398																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(919-921)tAt>tCt		heterogeneous nuclear ribonucleoprotein A3							112.0	121.0	118.0					2																	178083789		2203	4300	6503	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178083789A>C	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.986A>C	2.37:g.178083789A>C	ENSP00000376309:p.Tyr329Ser					HNRNPA3_ENST00000392524.2_Missense_Mutation_p.Y329S|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.Y329S	p.Y307S	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			9	971	+			329			Gly-rich.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.920A>C	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086822	0.55861	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.73	4.73	0.59995	.	0.000000	0.38720	U	0.001589	D	0.92087	0.7492	M	0.89658	3.05	0.58432	D	0.999998	P;P	0.47762	0.9;0.9	P;P	0.48815	0.489;0.591	D	0.91278	0.5049	10	0.18276	T	0.48	.	14.5481	0.68047	1.0:0.0:0.0:0.0	.	307;329	B4DDB6;P51991	.;ROA3_HUMAN	S	329;307;273;274;329;66	ENSP00000376309:Y329S;ENSP00000408487:Y307S;ENSP00000416340:Y329S;ENSP00000400688:Y66S	ENSP00000376309:Y329S	Y	+	2	0	HNRNPA3	177792035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.149000	0.71795	1.906000	0.55180	0.473000	0.43528	TAT		0.398	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		38	79	0	0	0	1	0	38	79				
DTX3	196403	broad.mit.edu	37	12	58002418	58002418	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr12:58002418G>A	ENST00000548198.1	+	4	2370	c.866G>A	c.(865-867)cGt>cAt	p.R289H	DTX3_ENST00000548804.1_Missense_Mutation_p.R289H|DTX3_ENST00000551632.1_Missense_Mutation_p.R292H|ARHGEF25_ENST00000286494.4_5'Flank|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000337737.3_Missense_Mutation_p.R289H			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	289					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					TTTGACCAGCGTCTCACCTTC	0.612																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(865-867)cGt>cAt		deltex homolog 3 (Drosophila)							70.0	77.0	75.0					12																	58002418		2157	4253	6410	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002418G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.866G>A	12.37:g.58002418G>A	ENSP00000447873:p.Arg289His					DTX3_ENST00000337737.3_Missense_Mutation_p.R289H|DTX3_ENST00000548804.1_Missense_Mutation_p.R289H|DTX3_ENST00000551632.1_Missense_Mutation_p.R292H	p.R289H			Q8N9I9	DTX3_HUMAN			4	2370	+	Melanoma(17;0.122)		289					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.866G>A	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313007	0.81358	.	.	ENSG00000178498	ENST00000548804;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000550300	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	4.01	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	M	0.87827	2.91	0.53688	D	0.999975	P	0.52842	0.956	P	0.48304	0.573	T	0.49698	-0.8912	10	0.59425	D	0.04	-4.8317	10.2701	0.43479	0.1025:0.0:0.8975:0.0	.	289	Q8N9I9	DTX3_HUMAN	H	289;289;289;292;77	ENSP00000449294:R289H;ENSP00000338050:R289H;ENSP00000447873:R289H;ENSP00000448696:R292H;ENSP00000446996:R77H	ENSP00000338050:R289H	R	+	2	0	DTX3	56288685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.797000	0.55514	1.964000	0.57103	0.591000	0.81541	CGT		0.612	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		5	33	0	0	0	1	0	5	33				
OR52D1	390066	broad.mit.edu	37	11	5509965	5509965	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:5509965A>G	ENST00000322641.5	+	1	51	c.29A>G	c.(28-30)cAt>cGt	p.H10R	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	10					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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGATAACCATCTTCCAGAC	0.458																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(28-30)cAt>cGt		olfactory receptor, family 52, subfamily D, member 1							119.0	115.0	117.0					11																	5509965		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5509965A>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.29A>G	11.37:g.5509965A>G	ENSP00000326232:p.His10Arg					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.H10R	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	51	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	10					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.29A>G	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	A	9.998	1.232701	0.22626	.	.	ENSG00000181609	ENST00000322641	T	0.36157	1.27	5.38	0.00891	0.14076	.	0.772348	0.11422	N	0.565628	T	0.20088	0.0483	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20306	-1.0279	10	0.45353	T	0.12	.	6.8256	0.23880	0.2942:0.1212:0.5846:0.0	.	10	Q9H346	O52D1_HUMAN	R	10	ENSP00000326232:H10R	ENSP00000326232:H10R	H	+	2	0	OR52D1	5466541	0.000000	0.05858	0.029000	0.17559	0.027000	0.11550	-0.023000	0.12456	0.414000	0.25790	-0.177000	0.13119	CAT		0.458	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		12	86	0	0	0	1	0	12	86				
ACRC	93953	broad.mit.edu	37	X	70824046	70824046	+	Missense_Mutation	SNP	G	G	C	rs142978522		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:70824046G>C	ENST00000373695.1	+	7	1456	c.919G>C	c.(919-921)Gac>Cac	p.D307H	ACRC_ENST00000373696.3_Missense_Mutation_p.D307H			Q96QF7	ACRC_HUMAN	acidic repeat containing	307	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAAGAGTGA	0.507																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(919-921)Gac>Cac		acidic repeat containing							187.0	163.0	171.0					X																	70824046		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824046G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.919G>C	X.37:g.70824046G>C	ENSP00000362799:p.Asp307His					ACRC_ENST00000373696.3_Missense_Mutation_p.D307H	p.D307H			Q96QF7	ACRC_HUMAN			7	1456	+	Renal(35;0.156)		307			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.919G>C	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.101	0.776639	0.16120	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32753	1.44;1.44	0.14	0.14	0.14804	.	.	.	.	.	T	0.15478	0.0373	N	0.14661	0.345	0.21652	N	0.999604	D	0.55605	0.972	B	0.42771	0.397	T	0.12116	-1.0560	9	0.56958	D	0.05	.	2.6715	0.05068	0.479:0.0:0.5209:0.0	.	307	Q96QF7	ACRC_HUMAN	H	307	ENSP00000362800:D307H;ENSP00000362799:D307H	ENSP00000362799:D307H	D	+	1	0	ACRC	70740771	0.004000	0.15560	0.020000	0.16555	0.021000	0.10359	-0.023000	0.12456	0.168000	0.19655	0.169000	0.16792	GAC		0.507	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			8	174	0	0	0	1	0	8	174				
WASH3P	374666	broad.mit.edu	37	15	102516464	102516464	+	RNA	SNP	T	T	G			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:102516464T>G	ENST00000557932.1	+	0	1412				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CGACTGGGAATCCTAGGGGGC	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516464T>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516464T>G														0	1412	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	t	12.25	1.881133	0.33255	.	.	ENSG00000185596	ENST00000398121;ENST00000378819	.	.	.	0.906	0.906	0.19314	.	0.130658	0.52532	D	0.000064	T	0.35128	0.0921	.	.	.	0.24793	N	0.992743	.	.	.	.	.	.	T	0.31364	-0.9946	4	.	.	.	.	4.0975	0.09998	0.0:0.0:0.0:1.0	.	.	.	.	A	463;358	.	.	S	+	1	0	WASH3P	100333987	1.000000	0.71417	0.980000	0.43619	0.610000	0.37248	1.695000	0.37763	0.662000	0.31006	0.155000	0.16302	TCC		0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		8	78	0	0	0	1	0	8	78				
SIAE	54414	broad.mit.edu	37	11	124507096	124507096	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:124507096G>C	ENST00000263593.3	-	10	1495	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	RNA5SP352_ENST00000363408.1_RNA|SIAE_ENST00000545756.1_Missense_Mutation_p.I406M			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	441					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCAACAGGAGATCTAATAAG	0.493																																						ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(1321-1323)atC>atG		sialic acid acetylesterase							153.0	148.0	149.0					11																	124507096		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124507096G>C	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1323C>G	11.37:g.124507096G>C	ENSP00000263593:p.Ile441Met					SIAE_ENST00000545756.1_Missense_Mutation_p.I406M	p.I441M			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	10	1495	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	441					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.1323C>G	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560416	0.45590	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.84660	-1.88;-1.88	5.67	2.67	0.31697	.	0.311901	0.34268	N	0.004116	D	0.87478	0.6187	M	0.72894	2.215	0.39138	D	0.961981	P	0.52692	0.955	P	0.55161	0.77	D	0.85256	0.1047	10	0.44086	T	0.13	-23.3237	8.8259	0.35054	0.081:0.4414:0.4776:0.0	.	441	Q9HAT2	SIAE_HUMAN	M	441;406	ENSP00000263593:I441M;ENSP00000437877:I406M	ENSP00000263593:I441M	I	-	3	3	SIAE	124012306	1.000000	0.71417	0.965000	0.40720	0.482000	0.33219	2.250000	0.43178	0.294000	0.22547	0.655000	0.94253	ATC		0.493	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		17	144	0	0	0	1	0	17	144				
RAB12	201475	broad.mit.edu	37	18	8638229	8638229	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr18:8638229C>T	ENST00000329286.6	+	6	987	c.704C>T	c.(703-705)cCt>cTt	p.P235L	RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	235					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						CCAGAACTGCCTCCACCAAGA	0.428																																						ENST00000329286.6																			0				breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.(703-705)cCt>cTt		RAB12, member RAS oncogene family							98.0	97.0	98.0					18																	8638229		1971	4153	6124	SO:0001583	missense	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8638229C>T		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.704C>T	18.37:g.8638229C>T	ENSP00000331748:p.Pro235Leu						p.P235L	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			6	987	+			235					A6NEF5|Q4KMQ3	Missense_Mutation	SNP	ENST00000329286.6	37	c.704C>T	CCDS42410.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097250	0.56075	.	.	ENSG00000206418	ENST00000329286	T	0.63255	-0.03	5.87	5.87	0.94306	.	0.139565	0.48767	U	0.000170	T	0.49064	0.1535	N	0.19112	0.55	0.80722	D	1	P	0.39665	0.682	B	0.32864	0.154	T	0.53781	-0.8390	10	0.52906	T	0.07	.	20.2045	0.98273	0.0:1.0:0.0:0.0	.	235	Q6IQ22	RAB12_HUMAN	L	235	ENSP00000331748:P235L	ENSP00000331748:P235L	P	+	2	0	RAB12	8628229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.455000	0.66658	2.780000	0.95670	0.650000	0.86243	CCT		0.428	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		6	71	0	0	0	1	0	6	71				
CNTN5	53942	broad.mit.edu	37	11	100126556	100126556	+	Silent	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:100126556C>A	ENST00000524871.1	+	17	2360	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	CNTN5_ENST00000527185.1_Silent_p.S690S|CNTN5_ENST00000528682.1_Silent_p.S690S|CNTN5_ENST00000418526.2_Silent_p.S616S|CNTN5_ENST00000279463.3_Silent_p.S690S|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	690	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCACACTGTCCTGGAGCCCAG	0.507																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2068-2070)tcC>tcA		contactin 5							112.0	126.0	121.0					11																	100126556		2032	4202	6234	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100126556C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2070C>A	11.37:g.100126556C>A						CNTN5_ENST00000527185.1_Silent_p.S690S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.S690S|CNTN5_ENST00000418526.2_Silent_p.S616S|CNTN5_ENST00000528682.1_Silent_p.S690S	p.S690S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	17	2360	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	690			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.2070C>A	CCDS53696.1																																																																																				0.507	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		13	66	1	0	0.00136819	1	0.0015006	13	66				
ANO7	50636	broad.mit.edu	37	2	242128075	242128075	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:242128075C>T	ENST00000274979.8	+	1	152	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ANO7_ENST00000402530.3_Missense_Mutation_p.P17S|ANO7_ENST00000402430.3_Missense_Mutation_p.P17S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	17					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCACCCCTCCCCACCCTCTG	0.677																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(49-51)Ccc>Tcc		anoctamin 7							32.0	34.0	33.0					2																	242128075		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242128075C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.49C>T	2.37:g.242128075C>T	ENSP00000274979:p.Pro17Ser					ANO7_ENST00000402430.3_Missense_Mutation_p.P17S|ANO7_ENST00000402530.3_Missense_Mutation_p.P17S	p.P17S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			1	152	+			17					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.49C>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687641	0.48097	.	.	ENSG00000146205	ENST00000274979;ENST00000402530;ENST00000402430	T;T;T	0.70749	-0.4;0.55;-0.51	3.15	3.15	0.36227	.	.	.	.	.	T	0.70037	0.3178	L	0.36672	1.1	0.09310	N	1	P;D	0.61697	0.455;0.99	B;P	0.54174	0.104;0.744	T	0.60561	-0.7239	9	0.87932	D	0	.	10.4675	0.44616	0.0:1.0:0.0:0.0	.	17;17	Q6IWH7;Q6IWH7-2	ANO7_HUMAN;.	S	17	ENSP00000274979:P17S;ENSP00000383985:P17S;ENSP00000385418:P17S	ENSP00000274979:P17S	P	+	1	0	ANO7	241776748	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.785000	0.26830	1.704000	0.51252	0.563000	0.77884	CCC		0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		3	28	0	0	0	1	0	3	28				
CREBBP	1387	broad.mit.edu	37	16	3779596	3779596	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:3779596C>A	ENST00000262367.5	-	31	6261	c.5452G>T	c.(5452-5454)Gtg>Ttg	p.V1818L	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1780L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1818	Interaction with TRERF1.				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)			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)		TGCTTGCACACCGGGCAGCCC	0.607			"""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 """		0				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.(5452-5454)Gtg>Ttg		CREB binding protein							129.0	110.0	117.0					16																	3779596		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.chr16:3779596C>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.5452G>T	16.37:g.3779596C>A	ENSP00000262367:p.Val1818Leu					CREBBP_ENST00000382070.3_Missense_Mutation_p.V1780L	p.V1818L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6261	-		Ovarian(90;0.0266)	1818			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5452G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	12.02	1.811519	0.32053	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.82081	-1.57;-1.57	5.35	5.35	0.76521	Zinc finger, TAZ-type (5);	0.000000	0.64402	D	0.000003	T	0.81394	0.4813	N	0.25992	0.78	0.80722	D	1	P;P	0.46395	0.877;0.877	P;P	0.51615	0.675;0.675	T	0.76984	-0.2756	10	0.15499	T	0.54	-22.6209	19.0688	0.93123	0.0:1.0:0.0:0.0	.	1848;1818	Q4LE28;Q92793	.;CBP_HUMAN	L	1818;1848;1780;353	ENSP00000262367:V1818L;ENSP00000371502:V1780L	ENSP00000262367:V1818L	V	-	1	0	CREBBP	3719597	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	4.871000	0.63042	2.513000	0.84729	0.591000	0.81541	GTG		0.607	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		11	109	1	0	3.86212e-05	1	4.528e-05	11	109				
ZNF611	81856	broad.mit.edu	37	19	53208929	53208929	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:53208929T>A	ENST00000319783.1	-	7	1695	c.1379A>T	c.(1378-1380)gAc>gTc	p.D460V	ZNF611_ENST00000602162.1_Missense_Mutation_p.D391V|ZNF611_ENST00000543227.1_Missense_Mutation_p.D460V|ZNF611_ENST00000540744.1_Missense_Mutation_p.D460V|ZNF611_ENST00000595798.1_Missense_Mutation_p.D391V|ZNF611_ENST00000453741.2_Missense_Mutation_p.D391V|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	460					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(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AAAAGCCTTGTCACAAACCTT	0.398																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1378-1380)gAc>gTc		zinc finger protein 611							121.0	122.0	121.0					19																	53208929		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208929T>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1379A>T	19.37:g.53208929T>A	ENSP00000322427:p.Asp460Val					ZNF611_ENST00000453741.2_Missense_Mutation_p.D391V|ZNF611_ENST00000319783.1_Missense_Mutation_p.D460V|ZNF611_ENST00000540744.1_Missense_Mutation_p.D460V|ZNF611_ENST00000595798.1_Missense_Mutation_p.D391V|ZNF611_ENST00000602162.1_Missense_Mutation_p.D391V	p.D460V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1653	-			460					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1379A>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.838915	0.32513	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	1.24	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13543	0.0328	L	0.46885	1.475	0.37549	D	0.918614	B	0.18166	0.026	B	0.22152	0.038	T	0.08432	-1.0722	9	0.72032	D	0.01	.	5.3565	0.16063	0.0:0.4657:0.0:0.5343	.	460	Q8N823	ZN611_HUMAN	V	460;460;391;460	ENSP00000437616:D460V;ENSP00000439211:D460V;ENSP00000443505:D391V;ENSP00000322427:D460V	ENSP00000322427:D460V	D	-	2	0	ZNF611	57900741	0.034000	0.19679	0.004000	0.12327	0.058000	0.15608	-0.174000	0.09839	-0.270000	0.09285	0.172000	0.16884	GAC		0.398	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		51	288	0	0	0	1	0	51	288				
CUL1	8454	broad.mit.edu	37	7	148451163	148451163	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:148451163G>A	ENST00000325222.4	+	3	515	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CUL1_ENST00000409469.1_Missense_Mutation_p.G79E|CUL1_ENST00000602748.1_Missense_Mutation_p.G79E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	79				Missing (in Ref. 1; AAC50544). {ECO:0000305}.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGACACCTGGAGGAGCTCAG	0.383																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(235-237)gGa>gAa		cullin 1							54.0	55.0	54.0					7																	148451163		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148451163G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.236G>A	7.37:g.148451163G>A	ENSP00000326804:p.Gly79Glu					CUL1_ENST00000602748.1_Missense_Mutation_p.G79E|CUL1_ENST00000409469.1_Missense_Mutation_p.G79E	p.G79E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		3	515	+	Melanoma(164;0.15)		79	Missing (in Ref. 1; AAC50544).				D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.236G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040609	0.55003	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583	T;T	0.30714	1.52;1.52	4.55	4.55	0.56014	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	M	0.80616	2.505	0.80722	D	1	B	0.20368	0.044	B	0.22152	0.038	T	0.35599	-0.9782	10	0.14656	T	0.56	-30.7455	17.3316	0.87265	0.0:0.0:1.0:0.0	.	79	Q13616	CUL1_HUMAN	E	79;79;37	ENSP00000387160:G79E;ENSP00000326804:G79E	ENSP00000326804:G79E	G	+	2	0	CUL1	148082096	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.552000	0.98115	2.091000	0.63221	0.508000	0.49915	GGA		0.383	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		10	55	0	0	0	1	0	10	55				
FNIP1	96459	broad.mit.edu	37	5	130987631	130987631	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:130987631C>A	ENST00000510461.1	-	16	3265	c.3170G>T	c.(3169-3171)tGg>tTg	p.W1057L	FNIP1_ENST00000307968.7_Missense_Mutation_p.W1029L|FNIP1_ENST00000307954.8_Missense_Mutation_p.W1012L|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1057					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGAACAGTCCATTTATCCAT	0.378																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3085-3087)tGg>tTg		folliculin interacting protein 1							107.0	98.0	101.0					5																	130987631		2203	4300	6503	SO:0001583	missense	96459							g.chr5:130987631C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3170G>T	5.37:g.130987631C>A	ENSP00000421985:p.Trp1057Leu					FNIP1_ENST00000510461.1_Missense_Mutation_p.W1057L|FNIP1_ENST00000307954.8_Missense_Mutation_p.W1012L|FNIP1_ENST00000514667.1_Intron	p.W1029L	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	15	3085	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3086G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032687	0.93575	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.15017	2.46;2.5;2.48	5.82	5.82	0.92795	.	.	.	.	.	T	0.43255	0.1239	M	0.63843	1.955	0.80722	D	1	P;D	0.89917	0.537;1.0	P;D	0.87578	0.479;0.998	T	0.12811	-1.0533	9	0.66056	D	0.02	-3.6614	20.0953	0.97838	0.0:1.0:0.0:0.0	.	1029;1057	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	L	1029;1012;809;1057	ENSP00000309266:W1029L;ENSP00000310453:W1012L;ENSP00000421985:W1057L	ENSP00000310453:W1012L	W	-	2	0	FNIP1	131015530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	TGG		0.378	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		10	96	1	0	3.86212e-05	1	4.528e-05	10	96				
NR2F2	7026	broad.mit.edu	37	15	96875608	96875608	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:96875608G>T	ENST00000394166.3	+	1	1663	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	92					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAAGCACTACGGCCAGTTCAC	0.652																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(274-276)Ggc>Tgc		nuclear receptor subfamily 2, group F, member 2							55.0	42.0	46.0					15																	96875608		2197	4297	6494	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875608G>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.274G>T	15.37:g.96875608G>T	ENSP00000377721:p.Gly92Cys					NR2F2_ENST00000421109.2_Intron	p.G92C	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1663	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		92					B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.274G>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640939	0.87859	.	.	ENSG00000185551	ENST00000394166	D	0.97710	-4.5	4.61	4.61	0.57282	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.075395	0.50627	D	0.000119	D	0.99441	0.9802	H	0.99887	4.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97673	1.0168	10	0.87932	D	0	.	16.0226	0.80509	0.0:0.0:1.0:0.0	.	92	P24468	COT2_HUMAN	C	92	ENSP00000377721:G92C	ENSP00000377721:G92C	G	+	1	0	NR2F2	94676612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.797000	0.99108	2.097000	0.63578	0.462000	0.41574	GGC		0.652	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			4	15	1	0	0.014758	1	0.0152052	4	15				
ZNF423	23090	broad.mit.edu	37	16	49671871	49671871	+	Silent	SNP	G	G	T	rs368847069		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:49671871G>T	ENST00000561648.1	-	4	1245	c.1192C>A	c.(1192-1194)Cgg>Agg	p.R398R	ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000563137.2_Silent_p.R338R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000535559.1_Silent_p.R281R|ZNF423_ENST00000262383.2_Silent_p.R398R|ZNF423_ENST00000562871.1_Silent_p.R338R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	398					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)	p.R398W(2)		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)				CCGTCATCCCGCATCTTCTTC	0.637																																						ENST00000561648.1																			2	Substitution - Missense(2)	p.R398W(2)	large_intestine(2)	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.(1192-1194)Cgg>Agg		zinc finger protein 423							43.0	39.0	40.0					16																	49671871		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.chr16:49671871G>T	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.1192C>A	16.37:g.49671871G>T						ZNF423_ENST00000562871.1_Silent_p.R338R|ZNF423_ENST00000563137.2_Silent_p.R338R|ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000262383.2_Silent_p.R398R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000535559.1_Silent_p.R281R	p.R398R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1245	-		all_cancers(37;0.0155)	398					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.1192C>A	CCDS32445.1																																																																																				0.637	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		8	68	1	0	0.000157383	1	0.000175444	8	68				
CRY2	1408	broad.mit.edu	37	11	45880359	45880359	+	Silent	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:45880359G>A	ENST00000443527.2	+	3	487	c.465G>A	c.(463-465)aaG>aaA	p.K155K	CRY2_ENST00000417225.2_Silent_p.K73K|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	134					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCATCATGAAGATGGCCAAGG	0.512																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(463-465)aaG>aaA		cryptochrome 2 (photolyase-like)							124.0	108.0	113.0					11																	45880359		2203	4299	6502	SO:0001819	synonymous_variant	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45880359G>A	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.465G>A	11.37:g.45880359G>A						CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Silent_p.K73K	p.K155K	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			3	487	+			134			DNA photolyase.		B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	ENST00000443527.2	37	c.465G>A	CCDS7915.2																																																																																				0.512	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		5	61	0	0	0	1	0	5	61				
SATL1	340562	broad.mit.edu	37	X	84363320	84363320	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:84363320T>A	ENST00000395409.3	-	1	654	c.94A>T	c.(94-96)Agc>Tgc	p.S32C	SATL1_ENST00000332921.5_Missense_Mutation_p.S32C|SATL1_ENST00000509231.1_Missense_Mutation_p.S219C			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	32	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACTTGCTGGCTCATGCCTGGT	0.537																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(655-657)Agc>Tgc		spermidine/spermine N1-acetyl transferase-like 1							250.0	170.0	197.0					X																	84363320		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84363320T>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.94A>T	X.37:g.84363320T>A	ENSP00000378804:p.Ser32Cys					SATL1_ENST00000332921.5_Missense_Mutation_p.S32C|SATL1_ENST00000395409.3_Missense_Mutation_p.S32C	p.S219C			Q86VE3	SATL1_HUMAN			1	734	-			32			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.655A>T		.	.	.	.	.	.	.	.	.	.	-	13.06	2.124509	0.37533	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.47177	0.85;0.85;0.85	2.26	-2.81	0.05805	.	.	.	.	.	T	0.30070	0.0753	L	0.38175	1.15	0.09310	N	1	B;B	0.28233	0.13;0.204	B;B	0.26770	0.033;0.073	T	0.19451	-1.0305	9	0.46703	T	0.11	.	2.8542	0.05566	0.3779:0.1347:0.0:0.4874	.	32;219	Q86VE3;E9PB72	SATL1_HUMAN;.	C	32;32;219	ENSP00000378804:S32C;ENSP00000329115:S32C;ENSP00000425421:S219C	ENSP00000329115:S32C	S	-	1	0	SATL1	84249976	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.761000	0.01805	-0.777000	0.04572	0.356000	0.21956	AGC		0.537	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		10	82	0	0	0	1	0	10	82				
REG1A	5967	broad.mit.edu	37	2	79350329	79350329	+	Silent	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:79350329G>A	ENST00000233735.1	+	6	592	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	163	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTGTCTGCAAGTTCAAAAACT	0.413																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(487-489)aaG>aaA		regenerating islet-derived 1 alpha							81.0	81.0	81.0					2																	79350329		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350329G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.489G>A	2.37:g.79350329G>A							p.K163K	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			6	592	+			163			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.489G>A	CCDS1964.1																																																																																				0.413	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		5	73	0	0	0	1	0	5	73				
RREB1	6239	broad.mit.edu	37	6	7230237	7230237	+	Silent	SNP	G	G	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:7230237G>A	ENST00000349384.6	+	10	2219	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	RREB1_ENST00000379933.3_Silent_p.T635T|RREB1_ENST00000379938.2_Silent_p.T635T|RREB1_ENST00000334984.6_Silent_p.T635T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	635					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAAGAAGACGCCCGCCATGC	0.642																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1903-1905)acG>acA		ras responsive element binding protein 1							23.0	25.0	24.0					6																	7230237		2199	4300	6499	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230237G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1905G>A	6.37:g.7230237G>A						RREB1_ENST00000349384.6_Silent_p.T635T|RREB1_ENST00000379933.3_Silent_p.T635T|RREB1_ENST00000334984.6_Silent_p.T635T	p.T635T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2442	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	635					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1905G>A	CCDS34336.1																																																																																				0.642	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			6	31	0	0	0	1	0	6	31				
COL1A2	1278	broad.mit.edu	37	7	94038707	94038707	+	Missense_Mutation	SNP	G	G	T	rs67031201		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:94038707G>T	ENST00000297268.6	+	17	1337	c.866G>T	c.(865-867)gGc>gTc	p.G289V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	289					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCTTCCAGGCCTCTCCGGC	0.488										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	GRCh37	CM070803|CM962605	COL1A2	M	rs67031201	c.(865-867)gGc>gTc		collagen, type I, alpha 2	Collagenase(DB00048)						76.0	87.0	84.0					7																	94038707		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038707G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.866G>T	7.37:g.94038707G>T	ENSP00000297268:p.Gly289Val	HNSCC(75;0.22)					p.G289V	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1337	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		289					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.866G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457436	0.84317	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99353	-5.77	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97578	1.0109	10	0.87932	D	0	.	20.2886	0.98538	0.0:0.0:1.0:0.0	.	289	P08123	CO1A2_HUMAN	V	289;290	ENSP00000297268:G289V	ENSP00000297268:G289V	G	+	2	0	COL1A2	93876643	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.972000	0.88022	2.882000	0.98803	0.655000	0.94253	GGC		0.488	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		10	90	1	0	1.49906e-05	1	1.78835e-05	10	90				
TTN	7273	broad.mit.edu	37	2	179664617	179664617	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:179664617T>C	ENST00000591111.1	-	5	828	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	TTN_ENST00000342175.6_Missense_Mutation_p.K202E|TTN_ENST00000342992.6_Missense_Mutation_p.K202E|TTN_ENST00000359218.5_Missense_Mutation_p.K202E|TTN_ENST00000460472.2_Missense_Mutation_p.K202E|TTN_ENST00000589042.1_Missense_Mutation_p.K202E|TTN_ENST00000360870.5_Missense_Mutation_p.K202E			Q8WZ42	TITIN_HUMAN	titin	31951					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTCTTTTTAGCAGGTACT	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(604-606)Aaa>Gaa		titin							99.0	97.0	98.0					2																	179664617		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664617T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.604A>G	2.37:g.179664617T>C	ENSP00000465570:p.Lys202Glu					TTN_ENST00000342992.6_Missense_Mutation_p.K202E|TTN_ENST00000460472.2_Missense_Mutation_p.K202E|TTN_ENST00000591111.1_Missense_Mutation_p.K202E|TTN_ENST00000342175.6_Missense_Mutation_p.K202E|TTN_ENST00000360870.5_Missense_Mutation_p.K202E|TTN_ENST00000359218.5_Missense_Mutation_p.K202E	p.K202E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		5	828	-			202					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.604A>G		.	.	.	.	.	.	.	.	.	.	T	20.5	3.995239	0.74703	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65364	-0.15;0.1;0.07;0.06;0.22	5.92	5.92	0.95590	.	.	.	.	.	T	0.77558	0.4148	M	0.63843	1.955	0.35361	D	0.788226	D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0	D;D;D;D;D	0.85130	0.985;0.985;0.985;0.985;0.997	D	0.84182	0.0440	9	0.87932	D	0	.	16.3631	0.83280	0.0:0.0:0.0:1.0	.	202;202;202;202;202	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	E	202	ENSP00000343764:K202E;ENSP00000434586:K202E;ENSP00000340554:K202E;ENSP00000352154:K202E;ENSP00000354117:K202E	ENSP00000340554:K202E	K	-	1	0	TTN	179372862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.948000	0.87774	2.266000	0.75297	0.533000	0.62120	AAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	100	0	0	0	1	0	4	100				
GP2	2813	broad.mit.edu	37	16	20327363	20327363	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr16:20327363C>A	ENST00000381362.4	-	10	1502		c.e10-1		GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000302555.5_Splice_Site|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)						antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGAGCAAGACTGTAGGGATG	0.478																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.e9-1		glycoprotein 2 (zymogen granule membrane)							96.0	90.0	92.0					16																	20327363		2203	4300	6503	SO:0001630	splice_region_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327363C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1426-1G>T	16.37:g.20327363C>A						GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000381362.4_Splice_Site				P55259	GP2_HUMAN			9	1566	-								A6NFM9|A6NJA8|Q13338|Q9UIF1	Splice_Site	SNP	ENST00000381362.4	37		CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371968	0.61624	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6045	0.68466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GP2	20234864	1.000000	0.71417	0.869000	0.34112	0.818000	0.46254	3.497000	0.53295	2.492000	0.84095	0.655000	0.94253	.		0.478	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	Intron	6	80	1	0	1.26484e-09	1	1.63828e-09	6	80				
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	4						3	4	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187542175	187542196	+	Frame_Shift_Del	DEL	TGGGGTTCCCATGTCATGCACT	TGGGGTTCCCATGTCATGCACT	-			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr4:187542175_187542196delTGGGGTTCCCATGTCATGCACT	ENST00000441802.2	-	10	5753_5774	c.5544_5565delAGTGCATGACATGGGAACCCCA	c.(5542-5565)caagtgcatgacatgggaaccccafs	p.QVHDMGTP1848fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1848	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAAATAAACGTGGGGTTCCCATGTCATGCACTTGGACGGTAA	0.396										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5542-5565)cafs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542175_187542196delTGGGGTTCCCATGTCATGCACT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5544_5565delAGTGCATGACATGGGAACCCCA	4.37:g.187542175_187542196delTGGGGTTCCCATGTCATGCACT	ENSP00000406229:p.Gln1848fs	HNSCC(5;0.00058)					p.QVHDMGTP1848fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5753_5774	-			1848			Cadherin 16.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.5544_5565delAGTGCATGACATGGGAACCCCA	CCDS47177.1																																																																																				0.396	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	58						9	58	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70761984	70761984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr5:70761984delG	ENST00000358731.4	+	5	984	c.721delG	c.(721-723)gggfs	p.G241fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	241	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACAGATGATGGGCCATTACT	0.368																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(721-723)ggfs		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							139.0	129.0	132.0					5																	70761984		1889	4127	6016	SO:0001589	frameshift_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70761984delG	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.721delG	5.37:g.70761984delG	ENSP00000351575:p.Gly241fs					BDP1_ENST00000380675.2_5'UTR	p.G241fs	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	5	984	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	241			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Del	DEL	ENST00000358731.4	37	c.721delG	CCDS43328.1																																																																																				0.368	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		8	135						8	135	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		7	157						7	157	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1174-1179)ggccgg>ggGGCccgg		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup						p.392_393GR>GAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1492_1493	-		Ovarian(82;0.0253)	392					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		8	6						8	6	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66324669	66324669	+	lincRNA	DEL	G	G	-			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr11:66324669delG	ENST00000504911.1	-	0	1160				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							AGAAGCTGATGGAGGAGTATG	0.602																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							58.0	68.0	65.0					11																	66324669		2007	4091	6098			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66324669delG																													11.37:g.66324669delG						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	967	+									RNA	DEL	ENST00000504911.1	37																																																																																						0.602	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			2	4						2	4	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650|rs11408894|rs535957758	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		GACTCTTTTTTAAAAAAACAGG	0.45														60	0.0119808	0.0106	0.0072	5008	,	,		19441	0.0149		0.0219	False		,,,				2504	0.0041					ENST00000390453.1																			0																																																			28659							g.chr14:22573825_22573826insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573832_22573832dupA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		5	8						5	8	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79056182	79056182	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr15:79056182delG	ENST00000388820.4	-	22	4809	c.4599delC	c.(4597-4599)tccfs	p.S1533fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1533	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACAGGCCTCGGAGCACTGGG	0.687																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4597-4599)tcfs		ADAM metallopeptidase with thrombospondin type 1 motif, 7							10.0	11.0	11.0					15																	79056182		2136	4218	6354	SO:0001589	frameshift_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79056182delG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4599delC	15.37:g.79056182delG	ENSP00000373472:p.Ser1533fs						p.S1533fs	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			22	4809	-			1533			TSP type-1 7.		Q14F51|Q6P7J9	Frame_Shift_Del	DEL	ENST00000388820.4	37	c.4599delC	CCDS32303.1																																																																																				0.687	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G	rs56275308|rs587782423		TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr17:7579470_7579471insG	ENST00000269305.4	-	4	405_406	c.216_217insC	c.(214-219)cccgtgfs	p.V73fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V73fs	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	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	GCAGGGGCCACGGGGGGAGCAG	0.604		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"""		37	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CI920954	TP53	I		c.(214-219)cctggcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_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.chr17:7579470_7579471insG	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.217dupC	17.37:g.7579476_7579476dupG	ENSP00000269305:p.Val73fs	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_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs	p.G73fs	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	348_349	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	73		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.216_217insC	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	180						42	180	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	lincRNA	DEL	T	T	-	rs559860539|rs34190287|rs66639120	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													|||unknown(HR)	1522	0.303914	0.3994	0.2983	5008	,	,		15302	0.2619		0.2346	False		,,,				2504	0.2935					ENST00000597550.1																			0																																																			0							g.chr19:53703995delT																													19.37:g.53703995delT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.473	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			5	7						5	7	---	---	---	---
TPM3P9	147804	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555|rs398101275	byFrequency	TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr19:53946133delA	ENST00000424846.3	+	0	1130				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		TCATGTTGTGAAAAAAAAAAT	0.348													|||unknown(HR)	3191	0.637181	0.6241	0.6614	5008	,	,		21949	0.4008		0.7127	False		,,,				2504	0.8037					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53946133delA			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53946133delA						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	DEL	ENST00000424846.3	37																																																																																						0.348	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		2	4						2	4	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36688050	36688050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chr22:36688050delC	ENST00000216181.5	-	31	4556	c.4326delG	c.(4324-4326)aagfs	p.K1442fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1442					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTTCTTCTGCTTCTTCTCCA	0.582			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4324-4326)aafs		myosin, heavy chain 9, non-muscle							75.0	67.0	70.0					22																	36688050		2203	4300	6503	SO:0001589	frameshift_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36688050delC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4326delG	22.37:g.36688050delC	ENSP00000216181:p.Lys1442fs						p.K1442fs	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			31	4556	-			1442					A8K6E4|O60805|Q60FE2|Q86T83	Frame_Shift_Del	DEL	ENST00000216181.5	37	c.4326delG	CCDS13927.1																																																																																				0.582	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		14	66						14	66	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A7JJ-01A-11D-A34J-08	TCGA-UF-A7JJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2136826-7308-4afb-a7ab-8253e2c9797f	1a38a188-915a-46cf-9ef6-a66354ff19f6	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		7	221						7	221	---	---	---	---
