#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_match_norm_validation_allele1	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_tumor_sample
RNF207	388591	broad.mit.edu	37	1	6270478	6270478	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:6270478G>C	ENST00000377939.4	+	10	1049	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	RNF207_ENST00000377948.2_Missense_Mutation_p.E81Q	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	308						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAACAAGGCTGAGTTCCTGGA	0.647																																						uc001amg.2		NaN																	0					0						c.(922-924)GAG>CAG		ring finger protein 207							109.0	88.0	95.0					1																	6270478		2203	4300	6503	SO:0001583	missense	388591					intracellular	zinc ion binding	g.chr1:6270478G>C	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.922G>C	1.37:g.6270478G>C	ENSP00000367173:p.Glu308Gln					RNF207_uc001amh.2_Nonstop_Mutation_p.*196S|RNF207_uc010nzp.1_RNA	p.E308Q	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	10	1096	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	308					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	c.922G>C	CCDS59.2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787105	0.49997	.	.	ENSG00000158286	ENST00000377948;ENST00000377939	T	0.20463	2.07	4.61	4.61	0.57282	.	0.000000	0.50627	U	0.000107	T	0.38081	0.1027	L	0.43757	1.38	0.49213	D	0.999767	D	0.89917	1.0	D	0.74348	0.983	T	0.06570	-1.0819	10	0.30078	T	0.28	-4.5179	17.472	0.87648	0.0:0.0:1.0:0.0	.	308	Q6ZRF8	RN207_HUMAN	Q	81;308	ENSP00000367173:E308Q	ENSP00000367173:E308Q	E	+	1	0	RNF207	6193065	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.081000	0.94049	2.110000	0.64415	0.561000	0.74099	GAG		0.647	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2		NM_207396		6	109	0	0	0	0.00308	0	6	109		
APITD1	378708	broad.mit.edu	37	1	10500432	10500432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:10500432G>A	ENST00000309048.3	+	4	313	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	APITD1_ENST00000462462.1_3'UTR|APITD1_ENST00000602787.1_Missense_Mutation_p.E80K|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.E80K|APITD1-CORT_ENST00000470413.2_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	80					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AATTAACACTGAAGATGTGAA	0.393																																						uc001are.2		NaN																	0				ovary(1)	1						c.(238-240)GAA>AAA		apoptosis-inducing, TAF9-like domain 1 isoform							111.0	98.0	102.0					1																	10500432		2203	4300	6503	SO:0001583	missense	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10500432G>A	BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.238G>A	1.37:g.10500432G>A	ENSP00000308583:p.Glu80Lys					APITD1_uc001arf.2_Missense_Mutation_p.E80K|APITD1_uc001arg.2_Intron|APITD1_uc001arh.2_Missense_Mutation_p.E41K	p.E80K	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	654	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	80					Q8NFE5|Q8NFG5	Missense_Mutation	SNP	ENST00000309048.3	37	c.238G>A	CCDS115.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274185	0.95459	.	.	ENSG00000175279;ENSG00000175279;ENSG00000251503	ENST00000556104;ENST00000309048;ENST00000400900	.	.	.	5.78	5.78	0.91487	Histone-fold (2);	0.293722	0.42172	D	0.000750	T	0.78861	0.4350	M	0.83483	2.645	0.80722	D	1	D;D	0.67145	0.996;0.969	P;P	0.59424	0.857;0.798	T	0.78257	-0.2274	9	0.39692	T	0.17	-5.9184	18.7691	0.91883	0.0:0.0:1.0:0.0	.	80;80	Q8N2Z9-2;Q8N2Z9	.;CENPS_HUMAN	K	80	.	ENSP00000383692:E80K	E	+	1	0	APITD1-CORT;APITD1	10423019	1.000000	0.71417	0.426000	0.26672	0.998000	0.95712	7.457000	0.80775	2.737000	0.93849	0.563000	0.77884	GAA		0.393	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2		NM_199294		4	65	0	0	0	0.001984	0	4	65		
FBXO2	26232	broad.mit.edu	37	1	11708827	11708827	+	Missense_Mutation	SNP	C	C	G	rs149264736		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:11708827C>G	ENST00000354287.4	-	6	1156	c.815G>C	c.(814-816)gGg>gCg	p.G272A	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	272	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTGCCCCCCGTGCTCGAA	0.667																																						uc001asj.2		NaN																	0					0						c.(814-816)GGG>GCG		F-box only protein 2		C	ALA/GLY	1,4405	2.1+/-5.4	0,1,2202	52.0	60.0	57.0		815	2.7	0.8	1	dbSNP_134	57	0,8600		0,0,4300	no	missense	FBXO2	NM_012168.5	60	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	272/297	11708827	1,13005	2203	4300	6503	SO:0001583	missense	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11708827C>G	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.815G>C	1.37:g.11708827C>G	ENSP00000346240:p.Gly272Ala					FBXO2_uc009vna.2_Missense_Mutation_p.G275A	p.G272A	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	6	1157	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	272			FBA.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	ENST00000354287.4	37	c.815G>C	CCDS130.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863357	0.71949	2.27E-4	0.0	ENSG00000116661	ENST00000354287	T	0.33438	1.41	4.64	2.66	0.31614	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.80422	2.495	0.45403	D	0.998387	D;D	0.56287	0.961;0.975	P;B	0.51806	0.68;0.392	T	0.29427	-1.0012	10	0.22109	T	0.4	.	8.6791	0.34198	0.1726:0.6611:0.1663:0.0	.	240;272	A6NNP0;Q9UK22	.;FBX2_HUMAN	A	272	ENSP00000346240:G272A	ENSP00000346240:G272A	G	-	2	0	FBXO2	11631414	0.989000	0.36119	0.799000	0.32177	0.998000	0.95712	2.807000	0.47955	0.331000	0.23511	0.561000	0.74099	GGG		0.667	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1		NM_012168		9	127	0	0	0	0.000978	0	9	127		
TMEM82	388595	broad.mit.edu	37	1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T	rs373663615		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:16074093C>T	ENST00000375782.1	+	6	1136	c.998C>T	c.(997-999)tCg>tTg	p.S333L	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17540	0.0		0.001	False		,,,				2504	0.0					uc001axc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(997-999)TCG>TTG		transmembrane protein 82		C	LEU/SER	0,4406		0,0,2203	88.0	87.0	88.0		998	2.8	0.0	1		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM82	NM_001013641.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	333/344	16074093	1,13005	2203	4300	6503	SO:0001583	missense	388595					integral to membrane		g.chr1:16074093C>T		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.998C>T	1.37:g.16074093C>T	ENSP00000364938:p.Ser333Leu						p.S333L	NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	6	1136	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	333					B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	c.998C>T	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824932	0.32237	0.0	1.16E-4	ENSG00000162460	ENST00000375782	T	0.46819	0.86	3.78	2.77	0.32553	.	0.791289	0.10666	N	0.648085	T	0.38188	0.1031	M	0.65975	2.015	0.09310	N	1	P	0.42871	0.792	B	0.28305	0.088	T	0.42616	-0.9441	10	0.62326	D	0.03	-1.3718	7.5531	0.27808	0.2775:0.7225:0.0:0.0	.	333	A0PJX8	TMM82_HUMAN	L	333	ENSP00000364938:S333L	ENSP00000364938:S333L	S	+	2	0	TMEM82	15946680	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	1.064000	0.30579	1.954000	0.56735	0.467000	0.42956	TCG		0.607	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2		NM_001013641		5	134	0	0	0	0.000602	0	5	134		
CROCC	9696	broad.mit.edu	37	1	17265447	17265447	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:17265447C>G	ENST00000375541.5	+	12	1487	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGAGCGGCTCTGAGCGCACC	0.711																																						uc001azt.2		NaN																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1417-1419)TCT>TGT		ciliary rootlet coiled-coil							27.0	25.0	26.0					1																	17265447		2200	4295	6495	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17265447C>G	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1418C>G	1.37:g.17265447C>G	ENSP00000364691:p.Ser473Cys					CROCC_uc009voy.1_Missense_Mutation_p.S176C|CROCC_uc009voz.1_Missense_Mutation_p.S236C|CROCC_uc001azu.2_5'Flank	p.S473C	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	12	1487	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	473						Missense_Mutation	SNP	ENST00000375541.5	37	c.1418C>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435408	0.25813	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11277	2.79	5.39	4.46	0.54185	.	.	.	.	.	T	0.22936	0.0554	L	0.47716	1.5	0.29757	N	0.835854	B;D;D	0.76494	0.204;0.999;0.999	B;D;D	0.69654	0.056;0.965;0.935	T	0.01508	-1.1337	9	0.56958	D	0.05	.	9.4861	0.38931	0.0:0.7729:0.1464:0.0807	.	336;336;473	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	C	473;354	ENSP00000364691:S473C	ENSP00000364691:S473C	S	+	2	0	CROCC	17138034	0.804000	0.28969	0.956000	0.39512	0.009000	0.06853	1.664000	0.37439	2.702000	0.92279	0.561000	0.74099	TCT		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2		NM_014675		6	109	0	0	0	0.008291	0	6	109		
PADI2	11240	broad.mit.edu	37	1	17410286	17410286	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:17410286C>G	ENST00000375486.4	-	9	1048	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000444885.2_Missense_Mutation_p.E213Q|PADI2_ENST00000375481.1_Missense_Mutation_p.E329Q	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	329					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTGGTTTTCTCCACAAGGTTC	0.542																																						uc001baf.2		NaN																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(985-987)GAG>CAG		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						144.0	137.0	140.0					1																	17410286		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17410286C>G	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.985G>C	1.37:g.17410286C>G	ENSP00000364635:p.Glu329Gln					PADI2_uc010ocm.1_Missense_Mutation_p.E213Q|PADI2_uc001bag.1_Missense_Mutation_p.E329Q	p.E329Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	9	1067	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	329					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.985G>C	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432359	0.62844	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.24908	1.83;1.83;1.83	5.77	5.77	0.91146	Protein-arginine deiminase, C-terminal (1);	0.309874	0.39083	N	0.001465	T	0.29028	0.0721	L	0.54323	1.7	0.35923	D	0.831967	B;P	0.39920	0.137;0.695	B;B	0.43274	0.18;0.414	T	0.20538	-1.0272	10	0.22109	T	0.4	-46.8369	12.8911	0.58071	0.0:0.9219:0.0:0.0781	.	213;329	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	Q	329;213;329	ENSP00000364635:E329Q;ENSP00000405894:E213Q;ENSP00000364630:E329Q	ENSP00000364630:E329Q	E	-	1	0	PADI2	17282873	0.008000	0.16893	0.996000	0.52242	0.983000	0.72400	0.761000	0.26489	2.724000	0.93272	0.561000	0.74099	GAG		0.542	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				11	124	0	0	0	0.001855	0	11	124		
TMEM57	55219	broad.mit.edu	37	1	25824881	25824881	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:25824881A>G	ENST00000374343.4	+	11	2098	c.1919A>G	c.(1918-1920)tAc>tGc	p.Y640C	TMEM57_ENST00000399766.3_Missense_Mutation_p.Y413C|TMEM57_ENST00000399763.3_Missense_Mutation_p.Y282C	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	640					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCCCACTACTCTTCCAAA	0.542																																						uc001bkk.2		NaN																	0					0						c.(1918-1920)TAC>TGC		transmembrane protein 57							97.0	90.0	92.0					1																	25824881		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25824881A>G	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1919A>G	1.37:g.25824881A>G	ENSP00000363463:p.Tyr640Cys					TMEM57_uc009vru.2_Missense_Mutation_p.Y413C|TMEM57_uc009vrv.2_Missense_Mutation_p.Y282C	p.Y640C	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	11	2121	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	640					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1919A>G	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233828	0.58886	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.98;0.994;0.983	T	0.77648	-0.2509	9	0.42905	T	0.14	-10.5278	14.9021	0.70687	1.0:0.0:0.0:0.0	.	282;413;640	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	C	413;282;640	.	ENSP00000363463:Y640C	Y	+	2	0	TMEM57	25697468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.858000	0.75461	2.105000	0.64084	0.533000	0.62120	TAC		0.542	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2		NM_018202		16	147	0	0	0	0.007413	0	16	147		
RCC1	1104	broad.mit.edu	37	1	28863401	28863401	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:28863401G>A	ENST00000373833.6	+	12	1365	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	RCC1_ENST00000398958.2_Silent_p.V360V|RCC1_ENST00000373832.1_Silent_p.V360V|RCC1_ENST00000373831.3_Silent_p.V391V			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	360					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGTATGCTGTGACCAAGGATG	0.587																																						uc001bqg.1		NaN																	0				ovary(1)	1						c.(1078-1080)GTG>GTA		regulator of chromosome condensation 1 isoform							147.0	148.0	148.0					1																	28863401		2203	4300	6503	SO:0001819	synonymous_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28863401G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1080G>A	1.37:g.28863401G>A						SNHG3-RCC1_uc001bqa.1_Silent_p.V360V|SNHG3-RCC1_uc001bqb.1_Silent_p.V360V|SNHG3-RCC1_uc001bqc.1_Silent_p.V360V|RCC1_uc001bqe.1_Silent_p.V377V|RCC1_uc001bqf.1_Silent_p.V391V	p.V360V	NM_001269	NP_001260	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	9	1165	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	360			RCC1 6.		Q16269|Q6NT97	Silent	SNP	ENST00000373833.6	37	c.1080G>A	CCDS323.1																																																																																				0.587	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3		NM_001269		21	344	0	0	0	0.00333	0	21	344		
INPP5B	3633	broad.mit.edu	37	1	38397639	38397639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:38397639G>A	ENST00000373026.1	-	6	478	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	INPP5B_ENST00000373024.3_Missense_Mutation_p.R160C|INPP5B_ENST00000373021.1_Missense_Mutation_p.R160C|INPP5B_ENST00000373023.2_Missense_Mutation_p.R160C|INPP5B_ENST00000373027.1_5'Flank			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	160					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTACAACCGCGCGGCGTTGGC	0.612																																						uc001ccg.1		NaN																	0				urinary_tract(1)	1						c.(478-480)CGC>TGC		inositol polyphosphate-5-phosphatase, 75kDa							39.0	43.0	41.0					1																	38397639		2043	4172	6215	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38397639G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.478C>T	1.37:g.38397639G>A	ENSP00000362117:p.Arg160Cys					INPP5B_uc009vvk.1_Missense_Mutation_p.R101C|INPP5B_uc001cch.2_Missense_Mutation_p.R101C|INPP5B_uc001ccf.1_5'Flank	p.R160C	NM_005540	NP_005531	P32019	I5P2_HUMAN			7	572	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	160					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.478C>T		.	.	.	.	.	.	.	.	.	.	G	13.75	2.330276	0.41297	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.92595	-3.07;-3.07;-3.04;0.8	4.71	1.72	0.24424	.	1.960840	0.01762	N	0.030616	D	0.89787	0.6816	N	0.22421	0.69	0.09310	N	0.999994	P;D;B	0.59767	0.876;0.986;0.0	B;P;B	0.50708	0.118;0.648;0.0	T	0.80441	-0.1381	10	0.87932	D	0	.	6.2897	0.21053	0.0996:0.3691:0.5313:0.0	.	160;160;160	P32019;B1ARF3;P32019-2	I5P2_HUMAN;.;.	C	160	ENSP00000362114:R160C;ENSP00000362117:R160C;ENSP00000362115:R160C;ENSP00000362112:R160C	ENSP00000362112:R160C	R	-	1	0	INPP5B	38170226	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.781000	0.26774	0.647000	0.30713	-0.302000	0.09304	CGC		0.612	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1		NM_005540		5	101	0	0	0	0.000602	0	5	101		
MFSD2A	84879	broad.mit.edu	37	1	40432551	40432551	+	Missense_Mutation	SNP	G	G	A	rs201045061		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40432551G>A	ENST00000372809.5	+	8	1056	c.913G>A	c.(913-915)Ggc>Agc	p.G305S	MFSD2A_ENST00000372811.5_Missense_Mutation_p.G292S|MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000420632.2_Missense_Mutation_p.G136S	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	305					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.G292C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGAGCCACGGCCCATACAT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		17895	0.0		0.0	False		,,,				2504	0.001					uc001cev.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(913-915)GGC>AGC		major facilitator superfamily domain containing							113.0	106.0	108.0					1																	40432551		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40432551G>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.913G>A	1.37:g.40432551G>A	ENSP00000361895:p.Gly305Ser					MFSD2A_uc010ojb.1_Missense_Mutation_p.G253S|MFSD2A_uc001ceu.2_Missense_Mutation_p.G292S|MFSD2A_uc010ojc.1_Missense_Mutation_p.G136S|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	p.G305S	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			8	1094	+			305					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.913G>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226326	0.39300	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	T;T;T	0.80566	-1.39;-1.39;-1.39	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);	0.145914	0.64402	D	0.000006	D	0.86522	0.5953	M	0.76328	2.33	0.80722	D	1	D;D;P	0.76494	0.999;0.992;0.939	D;P;B	0.68621	0.959;0.85;0.422	T	0.82234	-0.0558	10	0.11485	T	0.65	-18.7761	12.3892	0.55348	0.0767:0.0:0.9233:0.0	.	253;305;292	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	S	292;136;305	ENSP00000361898:G292S;ENSP00000391261:G136S;ENSP00000361895:G305S	ENSP00000361895:G305S	G	+	1	0	MFSD2A	40205138	1.000000	0.71417	0.992000	0.48379	0.551000	0.35334	6.436000	0.73417	2.816000	0.96949	0.563000	0.77884	GGC		0.562	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1		NM_032793		12	188	0	0	0	0.00245	0	12	188		
PPT1	5538	broad.mit.edu	37	1	40536608	40536608	+	IGR	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40536608C>T	ENST00000433473.3	-	0	2740				CAP1_ENST00000372797.3_Missense_Mutation_p.S434F|CAP1_ENST00000372792.2_Missense_Mutation_p.S434F|CAP1_ENST00000372802.1_Missense_Mutation_p.S433F|CAP1_ENST00000372805.3_Missense_Mutation_p.S434F|CAP1_ENST00000372798.1_Missense_Mutation_p.S433F|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.S433F|PPT1_ENST00000372775.2_5'Flank	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGCCAAATCTTCCGAGATG	0.408																																						uc001cfa.3		NaN																	0				ovary(1)	1						c.(1300-1302)TCT>TTT		adenylyl cyclase-associated protein							173.0	158.0	163.0					1																	40536608		1879	4106	5985	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40536608C>T	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40536608C>T						CAP1_uc001cey.3_Missense_Mutation_p.S434F|CAP1_uc001cez.3_Missense_Mutation_p.S434F|CAP1_uc009vvz.2_Missense_Mutation_p.S434F|CAP1_uc010oje.1_Missense_Mutation_p.S351F	p.S434F	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		12	1530	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	434			C-CAP/cofactor C-like.		B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.1301C>T	CCDS447.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887799	0.72410	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.14640	2.49;2.5;2.49;2.5;2.5;2.49	5.55	5.55	0.83447	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.094992	0.64402	D	0.000001	T	0.50616	0.1626	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61792	-0.6990	10	0.87932	D	0	-21.4694	18.6642	0.91483	0.0:1.0:0.0:0.0	.	381;434	E7ENY9;Q01518	.;CAP1_HUMAN	F	434;433;434;411;433;433;434	ENSP00000361883:S434F;ENSP00000361888:S433F;ENSP00000361878:S434F;ENSP00000361884:S433F;ENSP00000344832:S433F;ENSP00000361891:S434F	ENSP00000344832:S433F	S	+	2	0	CAP1	40309195	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.856000	0.69518	2.890000	0.99128	0.585000	0.79938	TCT		0.408	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2		NM_000310		10	179	0	0	0	0.001368	0	10	179		
ZFP69B	65243	broad.mit.edu	37	1	40928137	40928137	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40928137G>C	ENST00000411995.2	+	6	856	c.481G>C	c.(481-483)Gat>Cat	p.D161H	RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Missense_Mutation_p.D59H|ZFP69B_ENST00000484445.1_Nonstop_Mutation_p.*132S	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	161					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)										CTTACAGAATGATATTTCGTG	0.323																																						uc001cfn.1		NaN																	0				ovary(2)	2						c.(481-483)GAT>CAT		zinc finger protein 643							118.0	129.0	125.0					1																	40928137		2203	4300	6503	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40928137G>C	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.481G>C	1.37:g.40928137G>C	ENSP00000399664:p.Asp161His					ZNF643_uc001cfl.1_Missense_Mutation_p.D59H|ZNF643_uc001cfm.1_Missense_Mutation_p.D27H	p.D161H	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	778	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	161					Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.481G>C	CCDS452.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.417|0.417	-0.910347|-0.910347	0.02434|0.02434	.|.	.|.	ENSG00000187801|ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584|ENST00000484445	T;T|.	0.09817|.	3.41;2.94|.	3.12|3.12	2.2|2.2	0.27929|0.27929	.|.	.|.	.|.	.|.	.|.	T|.	0.30262|.	0.0759|.	N|N	0.22421|0.22421	0.69|0.69	0.31378|0.31378	N|N	0.679325|0.679325	P|.	0.43169|.	0.8|.	B|.	0.43916|.	0.436|.	T|.	0.33292|.	-0.9874|.	9|.	0.46703|.	T|.	0.11|.	.|.	8.4681|8.4681	0.32969|0.32969	0.1203:0.0:0.8797:0.0|0.1203:0.0:0.8797:0.0	.|.	161|.	Q9UJL9|.	ZN643_HUMAN|.	H|S	92;161;59|132	ENSP00000399664:D161H;ENSP00000354547:D59H|.	ENSP00000354547:D59H|.	D|X	+|+	1|2	0|2	ZNF643|ZNF643	40700724|40700724	0.000000|0.000000	0.05858|0.05858	0.200000|0.200000	0.23457|0.23457	0.020000|0.020000	0.10135|0.10135	0.029000|0.029000	0.13666|0.13666	0.884000|0.884000	0.36064|0.36064	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.323	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2		NM_023070		15	162	0	0	0	0.003163	0	15	162		
B4GALT2	8704	broad.mit.edu	37	1	44450629	44450629	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:44450629C>T	ENST00000356836.6	+	4	1432	c.642C>T	c.(640-642)ttC>ttT	p.F214F	B4GALT2_ENST00000434555.2_Silent_p.F148F|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Silent_p.F243F|B4GALT2_ENST00000372324.1_Silent_p.F214F	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	214					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GCTTCATCTTCAGCGATGTGG	0.587																																						uc001clg.2		NaN																	0				ovary(1)|skin(1)	2						c.(640-642)TTC>TTT		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						102.0	85.0	91.0					1																	44450629		2203	4300	6503	SO:0001819	synonymous_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44450629C>T	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.642C>T	1.37:g.44450629C>T						B4GALT2_uc001clh.2_Silent_p.F148F|B4GALT2_uc010okl.1_Silent_p.F243F|B4GALT2_uc001cli.2_Silent_p.F214F	p.F214F	NM_003780	NP_003771	O60909	B4GT2_HUMAN			4	1012	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	214			Lumenal (Potential).		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Silent	SNP	ENST00000356836.6	37	c.642C>T	CCDS506.1																																																																																				0.587	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1		NM_003780		5	108	0	0	0	0.001168	0	5	108		
AKR1A1	10327	broad.mit.edu	37	1	46027485	46027485	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46027485C>T	ENST00000372070.3	+	3	766	c.19C>T	c.(19-21)Cta>Tta	p.L7L	AKR1A1_ENST00000351829.4_Silent_p.L7L|AKR1A1_ENST00000471651.1_Silent_p.L7L	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	7					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TTCCTGTGTTCTACTGCACAC	0.502																																						uc001cod.2		NaN																	0					0						c.(19-21)CTA>TTA		aldo-keto reductase family 1, member A1							125.0	123.0	123.0					1																	46027485		2203	4300	6503	SO:0001819	synonymous_variant	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46027485C>T	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.19C>T	1.37:g.46027485C>T						AKR1A1_uc009vxw.2_Silent_p.L7L|AKR1A1_uc001coe.2_Silent_p.L7L	p.L7L	NM_006066	NP_006057	P14550	AK1A1_HUMAN			3	483	+	Acute lymphoblastic leukemia(166;0.155)		7					A8KAL8|D3DQ04|Q6IAZ4	Silent	SNP	ENST00000372070.3	37	c.19C>T	CCDS523.1																																																																																				0.502	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1		NM_006066		10	129	0	0	0	0.003163	0	10	129		
POMGNT1	55624	broad.mit.edu	37	1	46661728	46661728	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46661728C>T	ENST00000371984.3	-	5	533	c.376G>A	c.(376-378)Gag>Aag	p.E126K	POMGNT1_ENST00000371992.1_Missense_Mutation_p.E126K|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000535522.1_Missense_Mutation_p.E104K|POMGNT1_ENST00000396420.3_Missense_Mutation_p.E126K|POMGNT1_ENST00000371986.3_Missense_Mutation_p.E126K	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	126					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CGGCCCTGCTCCCGGGCCTCA	0.572																																						uc001cpe.2		NaN																	0				ovary(1)	1						c.(376-378)GAG>AAG		O-linked mannose							58.0	63.0	62.0					1																	46661728		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46661728C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.376G>A	1.37:g.46661728C>T	ENSP00000361052:p.Glu126Lys					POMGNT1_uc010olx.1_Missense_Mutation_p.E104K|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_5'UTR|POMGNT1_uc001cpg.2_Missense_Mutation_p.E126K|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cpj.2_Missense_Mutation_p.E110K	p.E126K	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN			5	540	-	Acute lymphoblastic leukemia(166;0.155)		126			Lumenal (Potential).		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.376G>A	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625438	0.96671	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;1.49;-1.27	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	M	0.71581	2.175	0.80722	D	1	D;D;D;P	0.67145	0.982;0.996;0.992;0.935	P;P;P;P	0.60609	0.763;0.877;0.724;0.499	D	0.85581	0.1240	10	0.44086	T	0.13	-24.5534	19.6504	0.95798	0.0:1.0:0.0:0.0	.	104;126;126;126	F5H827;Q68CV6;Q5VST3;Q8WZA1	.;.;.;PMGT1_HUMAN	K	126;126;126;104;126	ENSP00000379698:E126K;ENSP00000361052:E126K;ENSP00000361060:E126K;ENSP00000443767:E104K;ENSP00000361054:E126K	ENSP00000361052:E126K	E	-	1	0	POMGNT1	46434315	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.234000	0.78134	2.651000	0.90000	0.650000	0.86243	GAG		0.572	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1		NM_017739		6	90	0	0	0	0.001168	0	6	90		
LRRC41	10489	broad.mit.edu	37	1	46744891	46744891	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46744891C>T	ENST00000343304.6	-	9	2467	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	728					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GATGAATCCTCTGAGAAAACA	0.542																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(2182-2184)GAG>AAG		MUF1 protein							61.0	58.0	59.0					1																	46744891		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46744891C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2182G>A	1.37:g.46744891C>T	ENSP00000343298:p.Glu728Lys					LRRC41_uc010omb.1_3'UTR	p.E728K	NM_006369	NP_006360	Q15345	LRC41_HUMAN			9	2226	-	Acute lymphoblastic leukemia(166;0.155)		728			LRR 6.		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2182G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190398	0.38707	.	.	ENSG00000132128	ENST00000343304	T	0.51071	0.72	5.21	2.97	0.34412	.	0.536281	0.18410	N	0.142064	T	0.25419	0.0618	N	0.19112	0.55	0.20638	N	0.999878	P	0.37500	0.597	B	0.33960	0.173	T	0.08534	-1.0717	10	0.15066	T	0.55	-12.1817	7.2334	0.26055	0.0:0.6721:0.1462:0.1817	.	728	Q15345	LRC41_HUMAN	K	728	ENSP00000343298:E728K	ENSP00000343298:E728K	E	-	1	0	LRRC41	46517478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.769000	0.38522	1.201000	0.43203	0.561000	0.74099	GAG		0.542	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		6	44	0	0	0	0.00308	0	6	44		
DMRTB1	63948	broad.mit.edu	37	1	53927289	53927289	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:53927289T>C	ENST00000371445.3	+	2	776	c.721T>C	c.(721-723)Tcc>Ccc	p.S241P	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	241	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCGGCATGTGTCCCGCAGCCA	0.662																																						uc001cvq.1		NaN																	0				ovary(1)|skin(1)	2						c.(721-723)TCC>CCC		DMRT-like family B with proline-rich C-terminal,							46.0	45.0	45.0					1																	53927289		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53927289T>C	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.721T>C	1.37:g.53927289T>C	ENSP00000360500:p.Ser241Pro						p.S241P	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			2	776	+			241			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.721T>C	CCDS581.1	.	.	.	.	.	.	.	.	.	.	T	8.419	0.846048	0.16963	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.40225	1.04	5.01	2.75	0.32379	.	0.308321	0.27749	N	0.018002	T	0.23370	0.0565	N	0.24115	0.695	0.19300	N	0.999971	B	0.20780	0.048	B	0.18871	0.023	T	0.11446	-1.0587	10	0.21540	T	0.41	-29.6163	5.8774	0.18836	0.0:0.2009:0.0:0.7991	.	241	Q96MA1	DMRTB_HUMAN	P	241;88	ENSP00000360500:S241P	ENSP00000360500:S241P	S	+	1	0	DMRTB1	53699877	0.199000	0.23386	0.667000	0.29798	0.983000	0.72400	0.740000	0.26188	1.061000	0.40601	0.533000	0.62120	TCC		0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1				4	73	0	0	0	0.000602	0	4	73		
LRRC7	57554	broad.mit.edu	37	1	70503871	70503871	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:70503871T>C	ENST00000035383.5	+	19	2280	c.2250T>C	c.(2248-2250)aaT>aaC	p.N750N	LRRC7_ENST00000310961.5_Silent_p.N755N|LRRC7_ENST00000415775.2_Silent_p.N34N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	750						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						CCCCAGGCAATATACCACAGC	0.502																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2248-2250)AAT>AAC		leucine rich repeat containing 7							143.0	141.0	142.0					1																	70503871		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503871T>C		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.2250T>C	1.37:g.70503871T>C						LRRC7_uc009wbg.2_Silent_p.N34N|LRRC7_uc001deq.2_5'UTR	p.N750N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2280	+			750					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.2250T>C	CCDS645.1																																																																																				0.502	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		37	189	0	0	0	0.007835	0	37	189		
GBP5	115362	broad.mit.edu	37	1	89730587	89730587	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:89730587C>G	ENST00000370459.3	-	7	1058	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	GBP5_ENST00000343435.5_Missense_Mutation_p.E311Q|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	311						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTGCATTCTCTATGCAAGGC	0.483																																						uc001dnc.2		NaN																	0				ovary(1)	1						c.(931-933)GAG>CAG		guanylate-binding protein 5							96.0	84.0	88.0					1																	89730587		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730587C>G	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.931G>C	1.37:g.89730587C>G	ENSP00000359488:p.Glu311Gln					GBP5_uc001dnd.2_Missense_Mutation_p.E311Q|GBP5_uc001dne.1_Missense_Mutation_p.E311Q	p.E311Q	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1468	-			311					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.931G>C	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217394	0.58560	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.03386	3.95;3.95;3.95	4.96	4.96	0.65561	Guanylate-binding protein, C-terminal (3);	0.052622	0.64402	D	0.000001	T	0.16599	0.0399	M	0.90705	3.14	0.36798	D	0.885215	D	0.76494	0.999	D	0.72338	0.977	T	0.01238	-1.1409	10	0.87932	D	0	-34.8243	16.1641	0.81743	0.0:1.0:0.0:0.0	.	311	Q96PP8	GBP5_HUMAN	Q	311	ENSP00000340396:E311Q;ENSP00000359488:E311Q;ENSP00000403010:E311Q	ENSP00000340396:E311Q	E	-	1	0	GBP5	89503175	0.998000	0.40836	0.597000	0.28824	0.015000	0.08874	2.860000	0.48372	2.759000	0.94783	0.556000	0.70494	GAG		0.483	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1		NM_052942		10	78	0	0	0	0.001855	0	10	78		
EPHX4	253152	broad.mit.edu	37	1	92515897	92515897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:92515897C>T	ENST00000370383.4	+	5	726	c.628C>T	c.(628-630)Cag>Tag	p.Q210*		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	210						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACACCCTGCTCAGCTGTTGAA	0.328																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2		NaN																	0				central_nervous_system(1)	1						c.(628-630)CAG>TAG		abhydrolase domain containing 7							97.0	98.0	98.0					1																	92515897		2203	4295	6498	SO:0001587	stop_gained	253152					integral to membrane	hydrolase activity	g.chr1:92515897C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.628C>T	1.37:g.92515897C>T	ENSP00000359410:p.Gln210*						p.Q210*	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			5	732	+			210					Q8NCC6	Nonsense_Mutation	SNP	ENST00000370383.4	37	c.628C>T	CCDS736.1	.	.	.	.	.	.	.	.	.	.	C	37	6.016438	0.97205	.	.	ENSG00000172031	ENST00000370383	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.8633	0.96793	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000359410:Q210X	Q	+	1	0	EPHX4	92288485	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.294000	0.78760	2.697000	0.92050	0.591000	0.81541	CAG		0.328	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1		NM_173567		6	104	0	0	0	0.001168	0	6	104		
MAGI3	260425	broad.mit.edu	37	1	114128166	114128166	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:114128166T>G	ENST00000307546.9	+	4	786	c.711T>G	c.(709-711)ccT>ccG	p.P237P	MAGI3_ENST00000369611.4_Silent_p.P237P|MAGI3_ENST00000369617.4_Silent_p.P237P|MAGI3_ENST00000369615.1_Silent_p.P237P	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	237	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCTCTTCCTGAAGAGGAAG	0.383																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(709-711)CCT>CCG		membrane-associated guanylate kinase-related  3							90.0	86.0	87.0					1																	114128166		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114128166T>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.711T>G	1.37:g.114128166T>G						MAGI3_uc001edh.3_Silent_p.P237P|MAGI3_uc001edi.3_Silent_p.P237P|MAGI3_uc010owm.1_Silent_p.P237P	p.P237P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	892	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	237			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.711T>G	CCDS44196.1																																																																																				0.383	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		11	57	0	0	0	0.001368	0	11	57		
TBX15	6913	broad.mit.edu	37	1	119427557	119427557	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:119427557C>T	ENST00000369429.3	-	8	1616	c.1607G>A	c.(1606-1608)aGc>aAc	p.S536N	TBX15_ENST00000207157.3_Missense_Mutation_p.S430N			Q96SF7	TBX15_HUMAN	T-box 15	536					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTGAGAGGCGCTCAGTTTTTC	0.522																																						uc001ehl.1		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(1288-1290)AGC>AAC		T-box 15							99.0	91.0	94.0					1																	119427557		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427557C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1607G>A	1.37:g.119427557C>T	ENSP00000358437:p.Ser536Asn					TBX15_uc009whj.1_Missense_Mutation_p.S254N	p.S430N	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1604	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	536					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1289G>A		.	.	.	.	.	.	.	.	.	.	C	8.380	0.837392	0.16891	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.88277	-2.36;-2.24;-1.16	5.3	4.35	0.52113	.	0.181115	0.53938	D	0.000049	T	0.75133	0.3808	N	0.14661	0.345	0.28538	N	0.912241	D;B	0.54047	0.964;0.138	P;B	0.50136	0.632;0.021	T	0.68311	-0.5442	10	0.13470	T	0.59	.	14.5496	0.68057	0.0:0.6823:0.3177:0.0	.	333;536	E9PCG3;Q96SF7	.;TBX15_HUMAN	N	333;430;536;264	ENSP00000207157:S430N;ENSP00000358437:S536N;ENSP00000398625:S264N	ENSP00000207157:S430N	S	-	2	0	TBX15	119229080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.401000	0.52601	2.764000	0.94973	0.555000	0.69702	AGC		0.522	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1		NM_152380		4	43	0	0	0	0.000602	0	4	43		
ANKRD35	148741	broad.mit.edu	37	1	145561190	145561190	+	Missense_Mutation	SNP	C	C	T	rs80055280	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:145561190C>T	ENST00000355594.4	+	10	965	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	293										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGAAGACCCGTGCTCGGAG	0.547													C|||	4	0.000798722	0.0	0.0	5008	,	,		19336	0.003		0.001	False		,,,				2504	0.0				Melanoma(9;127 754 22988 51047)	uc001eob.1		NaN																	0				ovary(4)|skin(1)	5						c.(877-879)CCG>CTG		ankyrin repeat domain 35							61.0	65.0	64.0					1																	145561190		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145561190C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.878C>T	1.37:g.145561190C>T	ENSP00000347802:p.Pro293Leu					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.P136L	p.P293L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	986	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		293					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.878C>T	CCDS919.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	C	10.95	1.496017	0.26774	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.64991	-0.13	6.07	-3.52	0.04682	.	0.852017	0.10213	N	0.701900	T	0.21921	0.0528	L	0.46157	1.445	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.12682	-1.0538	10	0.27785	T	0.31	-1.3007	0.4174	0.00451	0.2126:0.2868:0.2187:0.2819	.	293	Q8N283	ANR35_HUMAN	L	202;293	ENSP00000347802:P293L	ENSP00000347802:P293L	P	+	2	0	ANKRD35	144272547	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.657000	0.05335	-0.307000	0.08804	0.655000	0.94253	CCG		0.547	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1		NM_144698		6	49	0	0	0	0.001984	0	6	49		
PLEKHO1	51177	broad.mit.edu	37	1	150131673	150131673	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:150131673C>G	ENST00000369124.4	+	6	1463	c.1185C>G	c.(1183-1185)ctC>ctG	p.L395L	PLEKHO1_ENST00000025469.6_Silent_p.L361L|PLEKHO1_ENST00000369126.1_Silent_p.L212L	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	395	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCCCACCTCAGACAGACCA	0.587																																						uc001ett.2		NaN																	0				lung(1)	1						c.(1183-1185)CTC>CTG		pleckstrin homology domain containing, family O							27.0	30.0	29.0					1																	150131673		2203	4300	6503	SO:0001819	synonymous_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131673C>G	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1185C>G	1.37:g.150131673C>G						PLEKHO1_uc001etr.2_Silent_p.L223L|PLEKHO1_uc001ets.2_Silent_p.L212L|PLEKHO1_uc001etu.2_Silent_p.L223L	p.L395L	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1463	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		395			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	ENST00000369124.4	37	c.1185C>G	CCDS945.1																																																																																				0.587	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1		NM_016274		8	41	0	0	0	0.008291	0	8	41		
C1orf54	79630	broad.mit.edu	37	1	150248191	150248191	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:150248191G>C	ENST00000369102.1	+	5	942	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	C1orf54_ENST00000369098.3_Missense_Mutation_p.E58Q|C1orf54_ENST00000369099.3_Missense_Mutation_p.E58Q			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	58						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATATTTGAGTCAGAGGA	0.383																																						uc001eud.2		NaN																	0					0						c.(172-174)GAG>CAG		hypothetical protein LOC79630 precursor							81.0	79.0	79.0					1																	150248191		2203	4300	6503	SO:0001583	missense	79630					extracellular region		g.chr1:150248191G>C	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.172G>C	1.37:g.150248191G>C	ENSP00000358098:p.Glu58Gln					C1orf54_uc001euc.2_Missense_Mutation_p.E58Q|C1orf54_uc001eue.2_Missense_Mutation_p.E58Q|C1orf54_uc001euf.2_Missense_Mutation_p.E58Q|C1orf54_uc001eug.2_Missense_Mutation_p.E58Q	p.E58Q	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	210	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		58					Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	c.172G>C	CCDS948.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.993039	0.35131	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	3.82	3.82	0.43975	.	0.267597	0.26646	N	0.023235	T	0.40119	0.1104	L	0.44542	1.39	0.27138	N	0.961715	D;D	0.71674	0.998;0.996	D;P	0.66979	0.948;0.907	T	0.07868	-1.0750	9	0.48119	T	0.1	-4.706	11.529	0.50597	0.0:0.0:1.0:0.0	.	58;58	Q5TB16;Q8WWF1	.;CA054_HUMAN	Q	58	.	ENSP00000358094:E58Q	E	+	1	0	C1orf54	148514815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.140000	0.58031	2.429000	0.82318	0.604000	0.83254	GAG		0.383	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1		NM_024579		9	78	0	0	0	0.008291	0	9	78		
BNIPL	149428	broad.mit.edu	37	1	151015476	151015476	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015476G>A	ENST00000368931.3	+	5	634	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	BNIPL_ENST00000295294.7_Missense_Mutation_p.E78K	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	160					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGACAGCTGAAAGGCTGGG	0.542																																						uc001ewl.2		NaN																	0					0						c.(478-480)GAA>AAA		BCL2/adenovirus E1B 19kD interacting protein							139.0	127.0	131.0					1																	151015476		2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151015476G>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.478G>A	1.37:g.151015476G>A	ENSP00000357927:p.Glu160Lys					BNIPL_uc009wmi.2_Missense_Mutation_p.E78K|BNIPL_uc009wmj.2_RNA	p.E160K	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	651	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		160					Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.478G>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157685	0.78114	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	T;T;T	0.56776	1.16;1.16;0.44	5.44	5.44	0.79542	.	0.737822	0.13367	N	0.393197	T	0.38295	0.1035	M	0.64567	1.98	0.43647	D	0.996055	P	0.43938	0.822	B	0.42625	0.393	T	0.36744	-0.9735	10	0.07990	T	0.79	.	16.8132	0.85726	0.0:0.0:1.0:0.0	.	160	Q7Z465	BNIPL_HUMAN	K	160;158;78;78	ENSP00000357927:E160K;ENSP00000355333:E158K;ENSP00000295294:E78K	ENSP00000295294:E78K	E	+	1	0	BNIPL	149282100	0.961000	0.32948	0.934000	0.37439	0.618000	0.37518	1.787000	0.38704	2.576000	0.86940	0.603000	0.83216	GAA		0.542	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1		NM_138279		14	169	0	0	0	0.003163	0	14	169		
BNIPL	149428	broad.mit.edu	37	1	151015532	151015532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015532G>A	ENST00000368931.3	+	5	690	c.534G>A	c.(532-534)tgG>tgA	p.W178*	BNIPL_ENST00000295294.7_Nonsense_Mutation_p.W96*	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	178					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACATCACTGGAGGGTGTTCC	0.542																																						uc001ewl.2		NaN																	0					0						c.(532-534)TGG>TGA		BCL2/adenovirus E1B 19kD interacting protein							166.0	145.0	152.0					1																	151015532		2203	4300	6503	SO:0001587	stop_gained	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151015532G>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.534G>A	1.37:g.151015532G>A	ENSP00000357927:p.Trp178*					BNIPL_uc009wmi.2_Nonsense_Mutation_p.W96*|BNIPL_uc009wmj.2_RNA	p.W178*	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	707	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		178					Q6DK43|Q8TCY7|Q8WYG2	Nonsense_Mutation	SNP	ENST00000368931.3	37	c.534G>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765168	0.69878	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	.	.	.	5.3	5.3	0.74995	.	0.122577	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	16.5126	0.84290	0.0:0.0:1.0:0.0	.	.	.	.	X	178;176;96;96	.	ENSP00000295294:W96X	W	+	3	0	BNIPL	149282156	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	8.314000	0.89980	2.507000	0.84556	0.505000	0.49811	TGG		0.542	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1		NM_138279		7	113	0	0	0	0.006214	0	7	113		
BNIPL	149428	broad.mit.edu	37	1	151015865	151015865	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015865G>A	ENST00000368931.3	+	6	830	c.674G>A	c.(673-675)aGa>aAa	p.R225K	BNIPL_ENST00000295294.7_Missense_Mutation_p.R143K	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	225	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCTACCCAGAAGCAGCATC	0.463																																						uc001ewl.2		NaN																	0					0						c.(673-675)AGA>AAA		BCL2/adenovirus E1B 19kD interacting protein							270.0	234.0	246.0					1																	151015865		2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151015865G>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.674G>A	1.37:g.151015865G>A	ENSP00000357927:p.Arg225Lys					BNIPL_uc009wmi.2_Missense_Mutation_p.R143K|BNIPL_uc009wmj.2_RNA	p.R225K	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	847	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		225			CRAL-TRIO.		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.674G>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037167	0.54896	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.21543	2.0;2.0;2.0	5.3	4.39	0.52855	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.257025	0.38837	N	0.001557	T	0.04998	0.0134	L	0.27053	0.805	0.25326	N	0.989073	B	0.24317	0.101	B	0.28385	0.089	T	0.34054	-0.9844	10	0.22706	T	0.39	.	8.019	0.30398	0.1838:0.0:0.8162:0.0	.	225	Q7Z465	BNIPL_HUMAN	K	225;223;143	ENSP00000357927:R225K;ENSP00000355333:R223K;ENSP00000295294:R143K	ENSP00000295294:R143K	R	+	2	0	BNIPL	149282489	0.325000	0.24660	0.993000	0.49108	0.725000	0.41563	2.217000	0.42880	1.230000	0.43646	0.462000	0.41574	AGA		0.463	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1		NM_138279		25	432	0	0	0	0.008361	0	25	432		
TMOD4	29765	broad.mit.edu	37	1	151147246	151147246	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151147246G>T	ENST00000416280.2	-	2	205	c.106C>A	c.(106-108)Cag>Aag	p.Q36K	VPS72_ENST00000496809.1_5'Flank|TMOD4_ENST00000601585.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	0					muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCATCTCCTGTAGTTCGCAG	0.532																																						uc001exc.3		NaN																	0				ovary(1)	1						c.(106-108)CAG>AAG		tropomodulin 4 (muscle)							97.0	82.0	87.0					1																	151147246		2203	4300	6503	SO:0001583	missense	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151147246G>T	AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"""actin-capping protein"""	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.106C>A	1.37:g.151147246G>T	ENSP00000414180:p.Gln36Lys					TMOD4_uc001exb.2_5'Flank|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.Q36K	p.Q36K	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	296	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		36					B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Missense_Mutation	SNP	ENST00000416280.2	37	c.106C>A		.	.	.	.	.	.	.	.	.	.	.	14.03	2.412464	0.42817	.	.	ENSG00000163157	ENST00000295314;ENST00000416280;ENST00000441701	T;T;T	0.28255	1.62;1.62;1.62	5.85	4.94	0.65067	.	0.115488	0.64402	D	0.000013	T	0.10594	0.0259	N	0.25485	0.75	0.80722	D	1	B;P	0.43231	0.174;0.801	B;B	0.39971	0.063;0.315	T	0.04440	-1.0951	10	0.10111	T	0.7	-19.8009	16.0273	0.80551	0.0:0.1348:0.8652:0.0	.	36;36	B7Z6N9;Q9NZQ9	.;TMOD4_HUMAN	K	36	ENSP00000295314:Q36K;ENSP00000414180:Q36K;ENSP00000406333:Q36K	ENSP00000295314:Q36K	Q	-	1	0	TMOD4	149413870	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	2.883000	0.48554	1.470000	0.48102	0.561000	0.74099	CAG		0.532	TMOD4-201	KNOWN	basic	protein_coding	protein_coding					4	46	1	0	0.00024832	0.009096	0.000257078	4	46		
FLG	2312	broad.mit.edu	37	1	152282137	152282137	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:152282137G>T	ENST00000368799.1	-	3	5260	c.5225C>A	c.(5224-5226)cCc>cAc	p.P1742H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1742	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGATGGGGCCCAGCCTG	0.587									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5224-5226)CCC>CAC		filaggrin							192.0	199.0	197.0					1																	152282137		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282137G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5225C>A	1.37:g.152282137G>T	ENSP00000357789:p.Pro1742His						p.P1742H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5261	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1742			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5225C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.341	0.828644	0.16749	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	3.13	-3.87	0.04218	.	.	.	.	.	T	0.00524	0.0017	L	0.36672	1.1	0.09310	N	1	B	0.18741	0.03	B	0.20184	0.028	T	0.41610	-0.9499	9	0.42905	T	0.14	.	6.2244	0.20700	0.0:0.2275:0.3541:0.4184	.	1742	P20930	FILA_HUMAN	H	1742	ENSP00000357789:P1742H	ENSP00000357789:P1742H	P	-	2	0	FLG	150548761	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.441000	0.02409	-1.046000	0.03246	-0.492000	0.04666	CCC		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		50	456	1	0	6.3237e-29	0.00361	7.04358e-29	50	456		
FLG	2312	broad.mit.edu	37	1	152287154	152287154	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:152287154C>G	ENST00000368799.1	-	3	243	c.208G>C	c.(208-210)Gac>Cac	p.D70H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	70	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGTGAAGTCAATTTTCTTG	0.408									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(208-210)GAC>CAC		filaggrin							109.0	109.0	109.0					1																	152287154		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287154C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.208G>C	1.37:g.152287154C>G	ENSP00000357789:p.Asp70His					uc001ezv.2_RNA	p.D70H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	244	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		70			EF-hand 2.|Potential.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.208G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327859	0.24080	.	.	ENSG00000143631	ENST00000368799	T	0.20598	2.06	5.09	4.16	0.48862	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.46014	0.1371	H	0.95187	3.635	0.26897	N	0.967193	D	0.89917	1.0	D	0.76575	0.988	T	0.45469	-0.9259	9	0.72032	D	0.01	-19.5604	9.6486	0.39883	0.0:0.9036:0.0:0.0964	.	70	P20930	FILA_HUMAN	H	70	ENSP00000357789:D70H	ENSP00000357789:D70H	D	-	1	0	FLG	150553778	0.787000	0.28750	0.977000	0.42913	0.274000	0.26718	0.396000	0.20867	2.652000	0.90054	0.585000	0.79938	GAC		0.408	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		5	72	0	0	0	0.001168	0	5	72		
C1orf189	388701	broad.mit.edu	37	1	154173021	154173021	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154173021C>T	ENST00000368525.3	-	3	143	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	40										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTCTCTGGCCCAATGCCATT	0.507																																						uc001fee.1		NaN																	0					0						c.(118-120)GGC>AGC		hypothetical protein LOC388701							284.0	260.0	268.0					1																	154173021		2203	4300	6503	SO:0001583	missense	388701							g.chr1:154173021C>T		CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.118G>A	1.37:g.154173021C>T	ENSP00000357511:p.Gly40Ser						p.G40S	NM_001010979	NP_001010979	Q5VU69	CA189_HUMAN			3	144	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		40					A1L4E3	Missense_Mutation	SNP	ENST00000368525.3	37	c.118G>A	CCDS30876.1	.	.	.	.	.	.	.	.	.	.	C	0.696	-0.792508	0.02884	.	.	ENSG00000163263	ENST00000368525	.	.	.	4.82	-1.64	0.08318	.	0.588551	0.21066	N	0.080741	T	0.01489	0.0048	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	9	0.10111	T	0.7	.	4.4867	0.11794	0.1624:0.4086:0.0:0.429	.	40	Q5VU69	CA189_HUMAN	S	40	.	ENSP00000357511:G40S	G	-	1	0	C1orf189	152439645	0.000000	0.05858	0.127000	0.21898	0.696000	0.40369	0.153000	0.16323	-0.187000	0.10516	-0.367000	0.07326	GGC		0.507	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087672.1		NM_001010979		15	401	0	0	0	0.006122	0	15	401		
UBAP2L	9898	broad.mit.edu	37	1	154234112	154234112	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154234112G>A	ENST00000361546.2	+	23	2883	c.2841G>A	c.(2839-2841)gtG>gtA	p.V947V	SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000271877.7_Silent_p.V958V|UBAP2L_ENST00000428931.1_Silent_p.V947V|UBAP2L_ENST00000343815.6_Silent_p.V947V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	947					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCAGTGTGAATGCATCGG	0.512																																						uc001fep.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2839-2841)GTG>GTA		ubiquitin associated protein 2-like isoform a							248.0	200.0	216.0					1																	154234112		2203	4300	6503	SO:0001819	synonymous_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154234112G>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2841G>A	1.37:g.154234112G>A						UBAP2L_uc009wot.2_Silent_p.V947V|UBAP2L_uc010pek.1_Silent_p.V939V|UBAP2L_uc010pel.1_Silent_p.V957V|UBAP2L_uc010pen.1_Silent_p.V861V|UBAP2L_uc001feq.2_Silent_p.V143V|UBAP2L_uc001fer.2_Silent_p.V143V	p.V947V	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		24	3008	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		947					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	c.2841G>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142048	0.21205	.	.	ENSG00000143569	ENST00000433615;ENST00000428595	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.46908	0.1417	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48456	-0.9034	4	.	.	.	-4.9115	7.6238	0.28200	0.0868:0.1802:0.7331:0.0	.	.	.	.	K	278;226	.	.	E	+	1	0	UBAP2L	152500736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.690000	0.47001	2.715000	0.92844	0.555000	0.69702	GAA		0.512	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1		NM_014847		8	205	0	0	0	0.006214	0	8	205		
KCNN3	3782	broad.mit.edu	37	1	154698406	154698406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154698406G>A	ENST00000271915.4	-	5	2002	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	KCNN3_ENST00000361147.4_Nonsense_Mutation_p.Q258*|KCNN3_ENST00000358505.2_Nonsense_Mutation_p.Q250*	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	568					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TTGGTGAGCTGAGTGTCCATC	0.557																																						uc001ffp.2		NaN																	0				lung(1)	1						c.(1687-1689)CAG>TAG		small conductance calcium-activated potassium							123.0	102.0	109.0					1																	154698406		2203	4300	6503	SO:0001587	stop_gained	3782					integral to membrane	calmodulin binding	g.chr1:154698406G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1687C>T	1.37:g.154698406G>A	ENSP00000271915:p.Gln563*					KCNN3_uc001ffo.2_Nonsense_Mutation_p.Q258*	p.Q563*	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		5	2001	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		568			Calmodulin-binding (By similarity).		B1ANX0|O43517|Q86VF9|Q8WXG7	Nonsense_Mutation	SNP	ENST00000271915.4	37	c.1687C>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	40	8.127740	0.98667	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	.	.	.	4.38	4.38	0.52667	.	0.541790	0.17088	N	0.187506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.5837	17.9184	0.88959	0.0:0.0:1.0:0.0	.	.	.	.	X	258;563;250	.	ENSP00000271915:Q563X	Q	-	1	0	KCNN3	152965030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.731000	0.93534	0.650000	0.86243	CAG		0.557	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3		NM_002249		10	54	0	0	0	0.001855	0	10	54		
ZBTB7B	51043	broad.mit.edu	37	1	154987500	154987500	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154987500C>T	ENST00000368426.3	+	3	501	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.L122F|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.L122F|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.L156F	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	122					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGCTGTGCTCCAGGCTGC	0.607																																						uc001fgk.3		NaN																	0					0						c.(364-366)CTC>TTC		zinc finger and BTB domain containing 7B							36.0	40.0	38.0					1																	154987500		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987500C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.364C>T	1.37:g.154987500C>T	ENSP00000357411:p.Leu122Phe					ZBTB7B_uc009wpa.2_Missense_Mutation_p.L122F|ZBTB7B_uc001fgj.3_Missense_Mutation_p.L156F|ZBTB7B_uc010peq.1_Missense_Mutation_p.L156F|ZBTB7B_uc001fgl.3_Missense_Mutation_p.L122F	p.L122F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	522	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		122					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.364C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050709	0.75960	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	3.67	3.67	0.42095	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	D	0.86418	0.5928	M	0.79123	2.44	0.44956	D	0.99797	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88223	0.2898	10	0.72032	D	0.01	.	12.906	0.58152	0.0:1.0:0.0:0.0	.	122;122;156	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	F	122;122;156;122	ENSP00000438647:L122F;ENSP00000357411:L122F;ENSP00000406286:L156F;ENSP00000292176:L122F	ENSP00000292176:L122F	L	+	1	0	ZBTB7B	153254124	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.632000	0.61311	1.872000	0.54250	0.462000	0.41574	CTC		0.607	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		NM_015872		6	67	0	0	0	0.006214	0	6	67		
NTRK1	4914	broad.mit.edu	37	1	156845889	156845889	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:156845889C>T	ENST00000524377.1	+	13	1560	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R471C|NTRK1_ENST00000368196.3_Missense_Mutation_p.R501C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R504C	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	507					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACATCAAGCGCCGGGACAT	0.627			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NaN		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1519-1521)CGC>TGC		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						77.0	78.0	78.0					1																	156845889		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845889C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1519C>T	1.37:g.156845889C>T	ENSP00000431418:p.Arg507Cys	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.R471C|NTRK1_uc009wsi.1_Missense_Mutation_p.R206C|NTRK1_uc001fqi.1_Missense_Mutation_p.R501C|NTRK1_uc009wsk.1_Missense_Mutation_p.R504C	p.R507C	NM_002529	NP_002520	P04629	NTRK1_HUMAN			13	1575	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		507			Cytoplasmic (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1519C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183614	0.78677	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.03	5.03	0.67393	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000018	D	0.93723	0.7994	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.996;0.997;1.0	D	0.94191	0.7441	10	0.87932	D	0	.	17.097	0.86638	0.0:1.0:0.0:0.0	.	504;501;507;471	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	C	471;501;507;504	ENSP00000376120:R471C;ENSP00000357179:R501C;ENSP00000431418:R507C;ENSP00000351486:R504C	ENSP00000351486:R504C	R	+	1	0	NTRK1	155112513	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.499000	0.22546	2.619000	0.88677	0.462000	0.41574	CGC		0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1		NM_002529		14	187	0	0	0	0.006122	0	14	187		
KIRREL	55243	broad.mit.edu	37	1	158063421	158063421	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158063421G>C	ENST00000359209.6	+	13	1655	c.1588G>C	c.(1588-1590)Gac>Cac	p.D530H	KIRREL_ENST00000416935.2_Missense_Mutation_p.D430H|KIRREL_ENST00000360089.4_Missense_Mutation_p.D366H|KIRREL_ENST00000392272.2_Missense_Mutation_p.D427H|KIRREL_ENST00000368173.3_Missense_Mutation_p.D546H|KIRREL_ENST00000368172.1_Missense_Mutation_p.D344H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	530					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGGTCGCAAAGACGTGACCCT	0.607																																						uc001frn.3		NaN																	0				ovary(1)	1						c.(1588-1590)GAC>CAC		kin of IRRE like precursor							83.0	73.0	76.0					1																	158063421		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063421G>C	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1588G>C	1.37:g.158063421G>C	ENSP00000352138:p.Asp530His					KIRREL_uc010pib.1_Missense_Mutation_p.D430H|KIRREL_uc009wsq.2_Missense_Mutation_p.D366H|KIRREL_uc001fro.3_Missense_Mutation_p.D344H|uc001frp.2_5'Flank	p.D530H	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			13	1992	+	all_hematologic(112;0.0378)		530			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1588G>C	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136712	0.56936	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.69435	0.51;-0.4;0.2;-0.05;0.04;0.38	5.74	5.74	0.90152	.	0.000000	0.44688	D	0.000423	T	0.67748	0.2926	L	0.44542	1.39	0.54753	D	0.999981	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	P;P;P;P	0.59825	0.864;0.804;0.747;0.747	T	0.66740	-0.5847	10	0.44086	T	0.13	-28.0179	17.4077	0.87477	0.0:0.0:1.0:0.0	.	430;366;344;530	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	366;546;427;530;430;344	ENSP00000353202:D366H;ENSP00000357155:D546H;ENSP00000376098:D427H;ENSP00000352138:D530H;ENSP00000389674:D430H;ENSP00000357154:D344H	ENSP00000352138:D530H	D	+	1	0	KIRREL	156330045	1.000000	0.71417	0.996000	0.52242	0.179000	0.23085	9.148000	0.94652	2.704000	0.92352	0.491000	0.48974	GAC		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240		3	45	0	0	0	0.009096	0	3	45		
CD1E	913	broad.mit.edu	37	1	158325252	158325252	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158325252A>G	ENST00000368167.3	+	3	757	c.518A>G	c.(517-519)aAt>aGt	p.N173S	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.N173S|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.N171S|CD1E_ENST00000368161.3_Missense_Mutation_p.N173S|CD1E_ENST00000368160.3_Missense_Mutation_p.N173S|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.N74S	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	173					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAAGTGCTCAATCGCTACCTA	0.498																																						uc001fse.2		NaN																	0				skin(3)	3						c.(517-519)AAT>AGT		CD1E antigen isoform a precursor							80.0	80.0	80.0					1																	158325252		1890	4121	6011	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325252A>G	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.518A>G	1.37:g.158325252A>G	ENSP00000357149:p.Asn173Ser					CD1E_uc010pid.1_Missense_Mutation_p.N171S|CD1E_uc010pie.1_Missense_Mutation_p.N74S|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.N173S|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.N173S|CD1E_uc001fry.2_Missense_Mutation_p.N173S|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.N173S|CD1E_uc009wsv.2_Missense_Mutation_p.N74S|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	p.N173S	NM_030893	NP_112155	P15812	CD1E_HUMAN			3	757	+	all_hematologic(112;0.0378)		173					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.518A>G	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	A	9.639	1.138573	0.21123	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	4.53	-2.03	0.07365	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.625062	0.14174	N	0.336523	T	0.02418	0.0074	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B	0.29115	0.233;0.019;0.0;0.0;0.001;0.035;0.007	B;B;B;B;B;B;B	0.25291	0.059;0.018;0.003;0.005;0.003;0.04;0.01	T	0.36016	-0.9765	10	0.45353	T	0.12	-5.8404	8.9115	0.35557	0.5198:0.0:0.4802:0.0	.	74;171;74;173;173;173;173	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	S	171;74;173;173;173;173	ENSP00000401957:N171S;ENSP00000402906:N74S;ENSP00000357149:N173S;ENSP00000357145:N173S;ENSP00000357142:N173S;ENSP00000357143:N173S	ENSP00000357142:N173S	N	+	2	0	CD1E	156591876	0.010000	0.17322	0.011000	0.14972	0.015000	0.08874	0.124000	0.15728	-0.467000	0.06932	-0.370000	0.07254	AAT		0.498	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3		NM_030893		5	72	0	0	0	0.001168	0	5	72		
OR6K3	391114	broad.mit.edu	37	1	158687408	158687408	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158687408C>A	ENST00000368146.1	-	1	545	c.546G>T	c.(544-546)ctG>ctT	p.L182L	OR6K3_ENST00000368145.1_Silent_p.L166L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CACAGAAAGGCAGTGTGGAAA	0.512																																						uc010pip.1		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(544-546)CTG>CTT		olfactory receptor, family 6, subfamily K,							128.0	123.0	125.0					1																	158687408		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687408C>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.546G>T	1.37:g.158687408C>A							p.L182L	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	546	-	all_hematologic(112;0.0378)		182			Extracellular (Potential).		Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.546G>T																																																																																					0.512	OR6K3-201	KNOWN	basic	protein_coding	protein_coding					7	114	1	0	0.00198382	0.001984	0.0020327	7	114		
BLZF1	8548	broad.mit.edu	37	1	169351299	169351299	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:169351299G>A	ENST00000367808.3	+	6	1220		c.e6-1		BLZF1_ENST00000329281.2_Splice_Site			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1						cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GTTCTATGCAGATTATTGGAG	0.358																																						uc001gfx.1		NaN																	0				skin(1)	1						c.e6-1		basic leucine zipper nuclear factor 1							130.0	128.0	129.0					1																	169351299		2203	4300	6503	SO:0001630	splice_region_variant	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169351299G>A	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.798-1G>A	1.37:g.169351299G>A						BLZF1_uc001gfy.2_Splice_Site_p.K266_splice|BLZF1_uc009wvp.1_Intron	p.K266_splice	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			6	1235	+	all_hematologic(923;0.208)							O15298|Q5T531|Q5T533|Q9GZX4	Splice_Site	SNP	ENST00000367808.3	37	c.798_splice	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253846	0.80135	.	.	ENSG00000117475	ENST00000367808;ENST00000329281	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BLZF1	167617923	1.000000	0.71417	0.827000	0.32855	0.959000	0.62525	7.474000	0.81024	2.558000	0.86282	0.555000	0.69702	.		0.358	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1		NM_003666	Intron	19	242	0	0	0	0.010504	0	19	242		
RASAL2	9462	broad.mit.edu	37	1	178423706	178423706	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:178423706G>C	ENST00000462775.1	+	10	1815	c.1690G>C	c.(1690-1692)Gat>Cat	p.D564H	RASAL2_ENST00000448150.3_Missense_Mutation_p.D694H|RASAL2_ENST00000367649.3_Missense_Mutation_p.D712H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	564					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCAGGCTTTGATGGTTACAT	0.423																																						uc001glr.2		NaN																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(1690-1692)GAT>CAT		RAS protein activator like 2 isoform 1							141.0	134.0	136.0					1																	178423706		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178423706G>C	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1690G>C	1.37:g.178423706G>C	ENSP00000420558:p.Asp564His					RASAL2_uc001glq.2_Missense_Mutation_p.D712H|RASAL2_uc009wxc.2_Missense_Mutation_p.D78H	p.D564H	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			10	1815	+			564					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1690G>C	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.39|19.39	3.819297|3.819297	0.71028|0.71028	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	D;T;D|.	0.82711|.	-1.64;2.11;-1.64|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.	0.117279|.	0.56097|.	D|.	0.000028|.	T|.	0.74566|.	0.3733|.	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;P;P|.	0.48503|.	0.567;0.742;0.911|.	P;P;P|.	0.53062|.	0.456;0.603;0.717|.	T|.	0.71434|.	-0.4594|.	10|.	0.87932|.	D|.	0|.	.|.	19.876|19.876	0.96870|0.96870	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	694;564;712|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	H|S	694;712;564|114	ENSP00000407768:D694H;ENSP00000356621:D712H;ENSP00000420558:D564H|.	ENSP00000356621:D712H|.	D|X	+|+	1|2	0|2	RASAL2|RASAL2	176690329|176690329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.731000|9.731000	0.98807|0.98807	2.709000|2.709000	0.92574|0.92574	0.591000|0.591000	0.81541|0.81541	GAT|TGA		0.423	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3		NM_170692		8	89	0	0	0	0.00308	0	8	89		
HMCN1	83872	broad.mit.edu	37	1	186094827	186094827	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:186094827A>G	ENST00000271588.4	+	82	12820	c.12591A>G	c.(12589-12591)acA>acG	p.T4197T	HMCN1_ENST00000367492.2_Silent_p.T4197T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4197	Ig-like C2-type 41.				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						GAATCCCCACACCAGCAATTA	0.403																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(12589-12591)ACA>ACG		hemicentin 1 precursor							98.0	98.0	98.0					1																	186094827		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186094827A>G	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.12591A>G	1.37:g.186094827A>G						HMCN1_uc001grs.1_5'Flank	p.T4197T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			82	12820	+			4197			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.12591A>G	CCDS30956.1																																																																																				0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		7	100	0	0	0	0.000978	0	7	100		
CRB1	23418	broad.mit.edu	37	1	197390669	197390669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:197390669G>A	ENST00000367400.3	+	6	1846	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	CRB1_ENST00000538660.1_Missense_Mutation_p.E571K|CRB1_ENST00000535699.1_Missense_Mutation_p.E502K|CRB1_ENST00000544212.1_Missense_Mutation_p.E52K|CRB1_ENST00000367399.2_Missense_Mutation_p.E459K|CRB1_ENST00000543483.1_Missense_Mutation_p.E270K|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	571	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCATTTCGTGGAGGTAATATT	0.448																																						uc001gtz.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1711-1713)GAG>AAG		crumbs homolog 1 precursor							119.0	120.0	120.0					1																	197390669		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390669G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1711G>A	1.37:g.197390669G>A	ENSP00000356370:p.Glu571Lys					CRB1_uc010poz.1_Missense_Mutation_p.E502K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E459K|CRB1_uc010ppb.1_Missense_Mutation_p.E571K|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.E52K|CRB1_uc001gub.1_Missense_Mutation_p.E220K	p.E571K	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1846	+			571			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1711G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436427	0.62955	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000544212;ENST00000367401	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.69	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.88306	0.6401	M	0.88105	2.93	0.49915	D	0.999833	D;D;D;P;D	0.76494	0.999;0.999;0.999;0.865;0.999	D;D;D;B;D	0.85130	0.974;0.996;0.994;0.391;0.997	D	0.87546	0.2462	9	0.08381	T	0.77	.	16.5483	0.84457	0.0:0.1308:0.8692:0.0	.	571;502;459;220;571	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	K	502;571;571;459;270;52;220	ENSP00000438786:E502K;ENSP00000438091:E571K;ENSP00000356370:E571K;ENSP00000356369:E459K;ENSP00000439579:E270K;ENSP00000444556:E52K	ENSP00000356369:E459K	E	+	1	0	CRB1	195657292	1.000000	0.71417	0.998000	0.56505	0.131000	0.20780	5.215000	0.65241	1.360000	0.45960	0.557000	0.71058	GAG		0.448	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253		6	159	0	0	0	0.00308	0	6	159		
DENND1B	163486	broad.mit.edu	37	1	197641247	197641247	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:197641247T>G	ENST00000367396.3	-	5	385	c.216A>C	c.(214-216)gtA>gtC	p.V72V	DENND1B_ENST00000235453.4_Silent_p.V62V|DENND1B_ENST00000400967.2_Silent_p.V62V	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	72	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TGTCTGTCAGTACAAAGGTAA	0.358																																						uc001guf.3		NaN																	0					0						c.(214-216)GTA>GTC		DENN/MADD domain containing 1B isoform 2							104.0	99.0	101.0					1																	197641247		1851	4092	5943	SO:0001819	synonymous_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197641247T>G	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.216A>C	1.37:g.197641247T>G						DENND1B_uc010ppe.1_Silent_p.V72V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.V62V	p.V72V	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN			5	554	-			72			UDENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Silent	SNP	ENST00000367396.3	37	c.216A>C	CCDS41452.2																																																																																				0.358	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1		NM_144977		9	43	0	0	0	0.000978	0	9	43		
CACNA1S	779	broad.mit.edu	37	1	201061110	201061110	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:201061110C>T	ENST00000362061.3	-	4	757	c.531G>A	c.(529-531)tcG>tcA	p.S177S	CACNA1S_ENST00000367338.3_Silent_p.S177S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	177					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGGCACCCCCGACACCAGCC	0.612																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(529-531)TCG>TCA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						59.0	58.0	59.0					1																	201061110		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201061110C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.531G>A	1.37:g.201061110C>T							p.S177S	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			4	758	-			177			Helical; Name=S4 of repeat I; (Potential).|I.		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.531G>A	CCDS1407.1																																																																																				0.612	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		8	39	0	0	0	0.00308	0	8	39		
USH2A	7399	broad.mit.edu	37	1	215901707	215901707	+	Missense_Mutation	SNP	C	C	T	rs200507789		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:215901707C>T	ENST00000307340.3	-	61	12117	c.11731G>A	c.(11731-11733)Gag>Aag	p.E3911K	USH2A_ENST00000366943.2_Missense_Mutation_p.E3911K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3911	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGACTCCTCTTCAATGCCA	0.448										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11731-11733)GAG>AAG		usherin isoform B							53.0	53.0	53.0					1																	215901707		2202	4300	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215901707C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11731G>A	1.37:g.215901707C>T	ENSP00000305941:p.Glu3911Lys	HNSCC(13;0.011)					p.E3911K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	61	12118	-			3911			Fibronectin type-III 24.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11731G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358419	0.82243	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54866	0.55;0.55	5.52	5.52	0.82312	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.525286	0.15485	N	0.259872	T	0.52549	0.1741	M	0.69248	2.105	0.53688	D	0.999972	P	0.46706	0.883	B	0.37650	0.255	T	0.54846	-0.8232	10	0.23302	T	0.38	.	19.4363	0.94796	0.0:1.0:0.0:0.0	.	3911	O75445	USH2A_HUMAN	K	3911	ENSP00000305941:E3911K;ENSP00000355910:E3911K	ENSP00000305941:E3911K	E	-	1	0	USH2A	213968330	1.000000	0.71417	0.408000	0.26446	0.875000	0.50365	3.795000	0.55499	2.573000	0.86826	0.585000	0.79938	GAG		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		4	47	0	0	0	0.009096	0	4	47		
BPNT1	10380	broad.mit.edu	37	1	220240712	220240712	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:220240712G>C	ENST00000469520.2	-	7	855	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	BPNT1_ENST00000414869.2_Missense_Mutation_p.L100V|BPNT1_ENST00000322067.7_Missense_Mutation_p.L136V|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000544404.1_Missense_Mutation_p.L81V|BPNT1_ENST00000354807.3_Missense_Mutation_p.L136V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	136					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATTCCAATAAGAACTGTTACA	0.308																																						uc001hma.2		NaN																	0				ovary(1)	1						c.(406-408)CTT>GTT		3'(2'), 5'-bisphosphate nucleotidase 1							79.0	75.0	76.0					1																	220240712		1808	4070	5878	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220240712G>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.406C>G	1.37:g.220240712G>C	ENSP00000446828:p.Leu136Val					BPNT1_uc010pug.1_Missense_Mutation_p.L81V|BPNT1_uc010puh.1_Missense_Mutation_p.L100V|BPNT1_uc001hmb.3_Missense_Mutation_p.L136V	p.L136V	NM_006085	NP_006076	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	6	578	-			136					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.406C>G	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825308	0.90955	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.994	D	0.86176	0.1603	10	0.62326	D	0.03	.	20.0781	0.97751	0.0:0.0:1.0:0.0	.	100;136;136	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	V	136;136;136;136;81;100;100;100;81	ENSP00000318852:L136V;ENSP00000446828:L136V;ENSP00000346862:L136V;ENSP00000444398:L81V;ENSP00000410348:L100V;ENSP00000446953:L100V;ENSP00000446850:L100V;ENSP00000448740:L81V	ENSP00000307087:L136V	L	-	1	0	BPNT1	218307335	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.695000	0.84257	2.817000	0.96982	0.563000	0.77884	CTT		0.308	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2		NM_006085		6	92	0	0	0	0.001168	0	6	92		
CAPN2	824	broad.mit.edu	37	1	223959545	223959545	+	Silent	SNP	C	C	T	rs374729587		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:223959545C>T	ENST00000295006.5	+	19	2247	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CAPN2_ENST00000433674.2_Silent_p.I568I|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	646	Domain IV.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.I646I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ACCAAGTCATCGTTGCTCGGT	0.428																																						uc001hob.3		NaN																	1	Substitution - coding silent(1)		breast(1)	lung(3)|breast(1)|skin(1)	5						c.(1936-1938)ATC>ATT		calpain 2 isoform 1		C	,	0,4406		0,0,2203	224.0	192.0	203.0		1704,1938	-0.6	0.9	1		203	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CAPN2	NM_001146068.1,NM_001748.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	568/623,646/701	223959545	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223959545C>T	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1938C>T	1.37:g.223959545C>T						CAPN2_uc010puy.1_Silent_p.I568I|CAPN2_uc001hoc.2_Silent_p.I227I	p.I646I	NM_001748	NP_001739	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	19	2162	+			646			Domain IV.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.1938C>T	CCDS31035.1																																																																																				0.428	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1		NM_001748		16	221	0	0	0	0.00499	0	16	221		
TMEM63A	9725	broad.mit.edu	37	1	226034879	226034879	+	Silent	SNP	C	C	T	rs138912199		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:226034879C>T	ENST00000366835.3	-	24	2556	c.2286G>A	c.(2284-2286)tcG>tcA	p.S762S	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	762					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CTGTCCTCTCCGAGGCCAAGC	0.597																																						uc001hpm.1		NaN																	0				ovary(1)|breast(1)	2						c.(2284-2286)TCG>TCA		transmembrane protein 63A		C		0,4398		0,0,2199	73.0	64.0	67.0		2286	-5.6	0.8	1	dbSNP_134	67	3,8589		0,3,4293	no	coding-synonymous	TMEM63A	NM_014698.2		0,3,6492	TT,TC,CC		0.0349,0.0,0.0231		762/808	226034879	3,12987	2199	4296	6495	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034879C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2286G>A	1.37:g.226034879C>T							p.S762S	NM_014698	NP_055513	O94886	TM63A_HUMAN			24	2536	-	Breast(184;0.197)		762					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.2286G>A	CCDS31042.1																																																																																				0.597	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2		NM_014698		12	198	0	0	0	0.004007	0	12	198		
PARP1	142	broad.mit.edu	37	1	226564877	226564877	+	Missense_Mutation	SNP	C	C	T	rs577466994	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:226564877C>T	ENST00000366794.5	-	13	2016	c.1873G>A	c.(1873-1875)Gct>Act	p.A625T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	625					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A625T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGTGCCAAGCGTTCCCGGTT	0.458								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					C|||	5	0.000998403	0.0	0.0	5008	,	,		18821	0.005		0.0	False		,,,				2504	0.0					uc001hqd.3		NaN																	1	Substitution - Missense(1)		endometrium(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1873-1875)GCT>ACT	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							201.0	209.0	206.0					1																	226564877		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226564877C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1873G>A	1.37:g.226564877C>T	ENSP00000355759:p.Ala625Thr						p.A625T	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	13	2044	-	Breast(184;0.133)		625					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1873G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829874	0.32329	.	.	ENSG00000143799	ENST00000366794	T	0.16897	2.31	5.31	4.27	0.50696	WGR domain (4);	0.318693	0.37136	N	0.002227	T	0.11750	0.0286	N	0.25647	0.755	0.80722	D	1	B	0.24258	0.1	B	0.23419	0.046	T	0.11155	-1.0599	10	0.14656	T	0.56	.	12.9828	0.58575	0.2334:0.7666:0.0:0.0	.	625	P09874	PARP1_HUMAN	T	625	ENSP00000355759:A625T	ENSP00000355759:A625T	A	-	1	0	PARP1	224631500	0.975000	0.34042	0.993000	0.49108	0.886000	0.51366	2.421000	0.44688	2.645000	0.89757	0.650000	0.86243	GCT		0.458	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618		84	241	0	0	0	0.00361	0	84	241		
CDC42BPA	8476	broad.mit.edu	37	1	227261689	227261689	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:227261689A>G	ENST00000366769.3	-	19	3902	c.2611T>C	c.(2611-2613)Ttt>Ctt	p.F871L	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.F871L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.F871L|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.F871L|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.F871L|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.F871L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.F790L	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTTTCGCAAAACGACGCATT	0.378																																						uc001hqr.2		NaN																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(2611-2613)TTT>CTT		CDC42-binding protein kinase alpha isoform B							140.0	138.0	139.0					1																	227261689		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227261689A>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2611T>C	1.37:g.227261689A>G	ENSP00000355731:p.Phe871Leu					CDC42BPA_uc001hqq.2_Missense_Mutation_p.F135L|CDC42BPA_uc001hqs.2_Missense_Mutation_p.F790L|CDC42BPA_uc009xes.2_Missense_Mutation_p.F871L|CDC42BPA_uc010pvs.1_Missense_Mutation_p.F871L|CDC42BPA_uc001hqp.2_Missense_Mutation_p.F27L|CDC42BPA_uc001hqu.1_Missense_Mutation_p.F27L	p.F871L	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			19	3554	-		all_cancers(173;0.156)|Prostate(94;0.0792)	871						Missense_Mutation	SNP	ENST00000366769.3	37	c.2611T>C	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.17|11.17	1.559186|1.559186	0.27827|0.27827	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	T;T;T;T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03;1.03;1.03;1.03|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.099552|0.099552	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.32436|0.32436	0.0829|0.0829	N|N	0.02315|0.02315	-0.6|-0.6	0.54753|0.54753	D|D	0.999989|0.999989	B;B;B;B;B;B;B|.	0.18013|.	0.025;0.003;0.001;0.004;0.003;0.003;0.004|.	B;B;B;B;B;B;B|.	0.19946|.	0.027;0.004;0.001;0.026;0.005;0.005;0.012|.	T|T	0.34204|0.34204	-0.9838|-0.9838	10|6	0.07644|.	T|.	0.81|.	.|.	15.9745|15.9745	0.80049|0.80049	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	871;871;135;790;871;871;73|.	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.|.	L|S	871;790;871;871;871;135;871;871|73;164;44	ENSP00000355731:F871L;ENSP00000355729:F790L;ENSP00000335341:F871L;ENSP00000355728:F871L;ENSP00000355726:F871L;ENSP00000443275:F871L;ENSP00000355727:F871L|.	ENSP00000335341:F871L|.	F|F	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225328312|225328312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.017000|7.017000	0.76399|0.76399	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826		10	221	0	0	0	0.00245	0	10	221		
NID1	4811	broad.mit.edu	37	1	236180524	236180524	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:236180524G>A	ENST00000264187.6	-	10	2260	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	726	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GATTATTGCAGATTGTGTGGC	0.438																																						uc001hxo.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(2176-2178)ATC>ATT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						177.0	166.0	169.0					1																	236180524		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180524G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2178C>T	1.37:g.236180524G>A						NID1_uc009xgd.2_Intron	p.I726I	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2280	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	726			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2178C>T	CCDS1608.1																																																																																				0.438	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2		NM_002508		9	208	0	0	0	0.000978	0	9	208		
ZP4	57829	broad.mit.edu	37	1	238049174	238049174	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:238049174G>A	ENST00000366570.4	-	7	1010	c.852C>T	c.(850-852)agC>agT	p.S284S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	284	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.S284S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTAGCTGCAGCTGACATGGA	0.478																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(850-852)AGC>AGT		zona pellucida glycoprotein 4 preproprotein							130.0	127.0	128.0					1																	238049174		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238049174G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.852C>T	1.37:g.238049174G>A						LOC100130331_uc010pyc.1_Intron	p.S284S	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		7	852	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	284			ZP.|Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.852C>T	CCDS1615.1																																																																																				0.478	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1				5	68	0	0	0	0.000602	0	5	68		
FMN2	56776	broad.mit.edu	37	1	240370862	240370862	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:240370862G>A	ENST00000319653.9	+	5	2980	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	917	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1060E(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTTCCCGGAGCGGGCATA	0.657																																						uc010pyd.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2749-2751)GGA>GAA		formin 2							41.0	46.0	44.0					1																	240370862		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370862G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2750G>A	1.37:g.240370862G>A	ENSP00000318884:p.Gly917Glu					FMN2_uc010pye.1_Missense_Mutation_p.G921E	p.G917E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2975	+	Ovarian(103;0.127)	all_cancers(173;0.013)	917			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2750G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639308	0.14386	.	.	ENSG00000155816	ENST00000319653	T	0.67523	-0.27	3.78	1.87	0.25490	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.590598	0.14883	N	0.292834	T	0.70456	0.3226	M	0.87827	2.91	0.09310	N	1	P	0.38048	0.616	B	0.42163	0.378	T	0.63269	-0.6675	9	.	.	.	.	7.5848	0.27987	0.2259:0.0:0.7741:0.0	.	917	Q9NZ56	FMN2_HUMAN	E	917	ENSP00000318884:G917E	.	G	+	2	0	FMN2	238437485	0.935000	0.31712	0.004000	0.12327	0.010000	0.07245	1.350000	0.34010	0.924000	0.37069	0.305000	0.20034	GGA		0.657	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352		14	291	0	0	0	0.008871	0	14	291		
OR13G1	441933	broad.mit.edu	37	1	247836307	247836307	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:247836307C>A	ENST00000359688.2	-	1	58	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGGTGAGGCCCAGAATAATG	0.413																																						uc001idi.1		NaN																	0				skin(1)	1						c.(37-39)GGC>TGC		olfactory receptor, family 13, subfamily G,							73.0	72.0	72.0					1																	247836307		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836307C>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.37G>T	1.37:g.247836307C>A	ENSP00000352717:p.Gly13Cys						p.G13C	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	37	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		13			Extracellular (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.37G>T	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482993	0.63962	.	.	ENSG00000197437	ENST00000359688	T	0.00662	5.93	4.33	4.33	0.51752	.	0.000000	0.39834	N	0.001250	T	0.07458	0.0188	H	0.95712	3.71	0.20764	N	0.999851	D	0.89917	1.0	D	0.85130	0.997	T	0.04855	-1.0922	10	0.87932	D	0	-12.7807	14.7262	0.69346	0.0:1.0:0.0:0.0	.	13	Q8NGZ3	O13G1_HUMAN	C	13	ENSP00000352717:G13C	ENSP00000352717:G13C	G	-	1	0	OR13G1	245902930	0.518000	0.26234	0.058000	0.19502	0.205000	0.24178	2.220000	0.42908	2.399000	0.81585	0.655000	0.94253	GGC		0.413	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1		NM_001005487		14	78	1	0	1.01871e-10	0.008871	1.11723e-10	14	78		
OR6F1	343169	broad.mit.edu	37	1	247875997	247875997	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:247875997G>C	ENST00000302084.2	-	1	108	c.61C>G	c.(61-63)Caa>Gaa	p.Q21E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAAGAGTTTGAGAACCAGGA	0.473																																						uc001idj.1		NaN																	0					0						c.(61-63)CAA>GAA		olfactory receptor, family 6, subfamily F,							122.0	124.0	123.0					1																	247875997		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875997G>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.61C>G	1.37:g.247875997G>C	ENSP00000305640:p.Gln21Glu						p.Q21E	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	61	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		21			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.61C>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	1.262	-0.615595	0.03663	.	.	ENSG00000169214	ENST00000302084	T	0.00428	7.44	3.84	3.84	0.44239	.	0.000000	0.41396	D	0.000894	T	0.00241	0.0007	N	0.11724	0.165	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.57429	-0.7813	10	0.49607	T	0.09	-6.2884	14.8506	0.70295	0.0:0.0:1.0:0.0	.	21	Q8NGZ6	OR6F1_HUMAN	E	21	ENSP00000305640:Q21E	ENSP00000305640:Q21E	Q	-	1	0	OR6F1	245942620	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	-0.486000	0.06513	2.127000	0.65507	0.591000	0.81541	CAA		0.473	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1		NM_001005286		16	207	0	0	0	0.008871	0	16	207		
OR2T33	391195	broad.mit.edu	37	1	248436919	248436919	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:248436919G>A	ENST00000318021.2	-	1	219	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGTCCATGAGGGAAAGTT	0.547																																						uc010pzi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(196-198)CTC>CTT		olfactory receptor, family 2, subfamily T,							95.0	87.0	90.0					1																	248436919		2199	4300	6499	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436919G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.198C>T	1.37:g.248436919G>A							p.L66L	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	198	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		66			Helical; Name=2; (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.198C>T	CCDS31109.1																																																																																				0.547	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1		NM_001004695		10	198	0	0	0	0.000978	0	10	198		
OR2G6	391211	broad.mit.edu	37	1	248685808	248685808	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:248685808C>T	ENST00000343414.4	+	1	893	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTAAACCCCATTATCTACA	0.448																																						uc001ien.1		NaN																	0				ovary(2)|skin(1)	3						c.(859-861)CCC>CCT		olfactory receptor, family 2, subfamily G,							70.0	72.0	72.0					1																	248685808		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685808C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.861C>T	1.37:g.248685808C>T							p.P287P	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	861	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	287			Helical; Name=7; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.861C>T	CCDS31119.1																																																																																				0.448	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1		XM_372842		15	45	0	0	0	0.004007	0	15	45		
GDI2	2665	broad.mit.edu	37	10	5808246	5808246	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:5808246G>A	ENST00000380191.4	-	10	1439	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	GDI2_ENST00000380181.3_Silent_p.I338I|GDI2_ENST00000380132.4_Silent_p.I387I|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	383					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GGAGGTCACTGATGCTAACAA	0.502																																						uc001iil.3		NaN																	0					0						c.(1147-1149)ATC>ATT		GDP dissociation inhibitor 2 isoform 1							115.0	112.0	113.0					10																	5808246		2203	4300	6503	SO:0001819	synonymous_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5808246G>A	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1149C>T	10.37:g.5808246G>A						GDI2_uc001iim.3_Silent_p.I338I|GDI2_uc009xid.2_Silent_p.I387I	p.I383I	NM_001494	NP_001485	P50395	GDIB_HUMAN			10	1440	-			383					O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	37	c.1149C>T	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	8.816	0.936460	0.18206	.	.	ENSG00000057608	ENST00000380153;ENST00000447751	D	0.85411	-1.98	5.56	5.56	0.83823	.	.	.	.	.	D	0.85309	0.5667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81671	-0.0827	6	0.23302	T	0.38	-1.0595	12.4862	0.55874	0.0768:0.0:0.9232:0.0	.	.	.	.	L	168;163	ENSP00000387565:S163L	ENSP00000369498:S168L	S	-	2	0	GDI2	5848252	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.460000	0.53028	2.610000	0.88304	0.650000	0.86243	TCA		0.502	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1		NM_001494		5	93	0	0	0	0.001168	0	5	93		
UPF2	26019	broad.mit.edu	37	10	11994119	11994119	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:11994119C>T	ENST00000356352.2	-	14	3453	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	UPF2_ENST00000397053.2_Missense_Mutation_p.E994K|UPF2_ENST00000357604.5_Missense_Mutation_p.E994K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	994	Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATGGATTCTTCCAGAGAATTA	0.368																																						uc001ila.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2980-2982)GAA>AAA		UPF2 regulator of nonsense transcripts homolog							207.0	202.0	204.0					10																	11994119		2202	4300	6502	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11994119C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2980G>A	10.37:g.11994119C>T	ENSP00000348708:p.Glu994Lys					UPF2_uc001ilb.2_Missense_Mutation_p.E994K|UPF2_uc001ilc.2_Missense_Mutation_p.E994K|UPF2_uc009xiz.1_Missense_Mutation_p.E994K	p.E994K	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			14	3454	-		Renal(717;0.228)	994			Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2980G>A	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281433	0.59758	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.51325	0.71;0.71;0.71	5.32	5.32	0.75619	Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.130764	0.52532	D	0.000064	T	0.37210	0.0995	L	0.32530	0.975	0.50632	D	0.999884	B	0.15473	0.013	B	0.11329	0.006	T	0.12116	-1.0560	10	0.36615	T	0.2	.	12.6808	0.56920	0.0:0.9239:0.0:0.0761	.	994	Q9HAU5	RENT2_HUMAN	K	994	ENSP00000348708:E994K;ENSP00000350221:E994K;ENSP00000380244:E994K	ENSP00000348708:E994K	E	-	1	0	UPF2	12034125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.742000	0.68646	2.648000	0.89879	0.467000	0.42956	GAA		0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1				20	198	0	0	0	0.005443	0	20	198		
MCM10	55388	broad.mit.edu	37	10	13225054	13225055	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:13225054_13225055GG>AA	ENST00000484800.2	+	8	1158_1159	c.1055_1056GG>AA	c.(1054-1056)gGG>gAA	p.G352E	MCM10_ENST00000378714.3_Missense_Mutation_p.G351E|MCM10_ENST00000378694.1_Missense_Mutation_p.G351E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	352	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACTGTCGTAGGGATCCTCAATG	0.46																																						uc001ima.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1054-1056)GGG>GAA		minichromosome maintenance complex component 10																																				SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13225054_13225055GG>AA	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	Exception_encountered	10.37:g.13225054_13225055delinsAA	ENSP00000418268:p.Gly352Glu					MCM10_uc001imb.2_Missense_Mutation_p.G351E|MCM10_uc001imc.2_Missense_Mutation_p.G351E	p.G352E	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			8	1156_1157	+			352					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	DNP	ENST00000484800.2	37	c.1055_1056GG>AA	CCDS7096.1																																																																																				0.460	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1		NM_182751		14	122	0	0	0	0.004672	0	14	122		
C10orf111	221060	broad.mit.edu	37	10	15138479	15138479	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:15138479C>G	ENST00000378207.3	-	2	618	c.345G>C	c.(343-345)atG>atC	p.M115I	RPP38_ENST00000378202.5_5'Flank|RPP38_ENST00000378197.4_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	115						integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						GGAGGAGGCTCATTAGGTCAG	0.488																																						uc001inw.2		NaN																	0					0						c.(343-345)ATG>ATC		hypothetical protein LOC221060							101.0	102.0	102.0					10																	15138479		2203	4300	6503	SO:0001583	missense	221060					integral to membrane		g.chr10:15138479C>G	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.345G>C	10.37:g.15138479C>G	ENSP00000367449:p.Met115Ile					RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank	p.M115I	NM_153244	NP_694976	Q8N326	CJ111_HUMAN			2	619	-			115			Helical; (Potential).		B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	c.345G>C	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	C	8.173	0.792165	0.16258	.	.	ENSG00000176236	ENST00000378207	T	0.48522	0.81	2.22	-3.4	0.04853	.	.	.	.	.	T	0.22704	0.0548	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.16897	-1.0387	9	0.87932	D	0	.	4.4695	0.11704	0.0:0.2446:0.4656:0.2898	.	115	Q8N326	CJ111_HUMAN	I	115	ENSP00000367449:M115I	ENSP00000367449:M115I	M	-	3	0	C10orf111	15178485	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.460000	0.00999	-0.855000	0.04125	0.407000	0.27541	ATG		0.488	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1		NM_153244		4	65	0	0	0	0.000602	0	4	65		
PIP4K2A	5305	broad.mit.edu	37	10	22830755	22830755	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:22830755G>C	ENST00000376573.4	-	8	1242	c.1014C>G	c.(1012-1014)gtC>gtG	p.V338V	PIP4K2A_ENST00000545335.1_Silent_p.V279V|PIP4K2A_ENST00000323883.7_Silent_p.V198V	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	338	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TAATTCCATAGACGTCGATGT	0.517																																						uc001irl.3		NaN																	0				ovary(1)|skin(1)	2						c.(1012-1014)GTC>GTG		phosphatidylinositol-5-phosphate 4-kinase, type							70.0	67.0	68.0					10																	22830755		2203	4300	6503	SO:0001819	synonymous_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830755G>C	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.1014C>G	10.37:g.22830755G>C						PIP4K2A_uc010qcu.1_Silent_p.V198V	p.V338V	NM_005028	NP_005019	P48426	PI42A_HUMAN			8	1262	-			338			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	c.1014C>G	CCDS7141.1																																																																																				0.517	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1		NM_005028		6	88	0	0	0	0.004482	0	6	88		
GPR158	57512	broad.mit.edu	37	10	25464659	25464659	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:25464659G>C	ENST00000376351.3	+	1	669	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	104					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CGGCCGCTACGAGTTGGCGGG	0.677																																						uc001isj.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(310-312)GAG>CAG		G protein-coupled receptor 158 precursor							31.0	34.0	33.0					10																	25464659		2202	4297	6499	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464659G>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.310G>C	10.37:g.25464659G>C	ENSP00000365529:p.Glu104Gln					LOC100128811_uc010qde.1_Missense_Mutation_p.S98W	p.E104Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN			1	370	+			104			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.310G>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298531	0.81025	.	.	ENSG00000151025	ENST00000376351	T	0.77358	-1.09	4.54	4.54	0.55810	.	0.185980	0.35585	N	0.003101	D	0.85647	0.5745	M	0.61703	1.905	0.58432	D	0.999999	D	0.67145	0.996	D	0.65874	0.939	D	0.86724	0.1944	10	0.54805	T	0.06	.	17.4667	0.87634	0.0:0.0:1.0:0.0	.	104	Q5T848	GP158_HUMAN	Q	104	ENSP00000365529:E104Q	ENSP00000365529:E104Q	E	+	1	0	GPR158	25504665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.224000	0.95209	2.359000	0.80004	0.467000	0.42956	GAG		0.677	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2		XM_166110		5	81	0	0	0	0.004482	0	5	81		
APBB1IP	54518	broad.mit.edu	37	10	26800720	26800720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:26800720G>A	ENST00000376236.4	+	7	1031	c.576G>A	c.(574-576)ctG>ctA	p.L192L	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	192	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAAAGTCACTGATGGTGGATG	0.473																																						uc001iss.2		NaN																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(574-576)CTG>CTA		amyloid beta (A4) precursor protein-binding,							149.0	135.0	140.0					10																	26800720		2203	4300	6503	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26800720G>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.576G>A	10.37:g.26800720G>A						APBB1IP_uc009xks.1_Silent_p.L192L	p.L192L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			7	897	+			192			Ras-associating.		Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.576G>A	CCDS31167.1																																																																																				0.473	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1		NM_019043		6	127	0	0	0	0.00308	0	6	127		
YME1L1	10730	broad.mit.edu	37	10	27423784	27423784	+	Nonsense_Mutation	SNP	G	G	A	rs537318108		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:27423784G>A	ENST00000326799.3	-	7	986	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	YME1L1_ENST00000376016.3_Nonsense_Mutation_p.Q223*|YME1L1_ENST00000375972.3_Nonsense_Mutation_p.Q190*|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	280					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGAGTGCTTGAGCTTTCAGA	0.368																																						uc001iti.2		NaN																	0				ovary(1)	1						c.(838-840)CAA>TAA		YME1-like 1 isoform 1							127.0	116.0	120.0					10																	27423784		2203	4300	6503	SO:0001587	stop_gained	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27423784G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.838C>T	10.37:g.27423784G>A	ENSP00000318480:p.Gln280*					YME1L1_uc001itj.2_Nonsense_Mutation_p.Q223*|YME1L1_uc010qdl.1_Nonsense_Mutation_p.Q190*|YME1L1_uc009xkv.2_RNA	p.Q280*	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			7	1020	-			280					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Nonsense_Mutation	SNP	ENST00000326799.3	37	c.838C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	36	5.721567	0.96839	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324;ENST00000396296	.	.	.	5.5	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-15.8719	13.8727	0.63629	0.074:0.0:0.926:0.0	.	.	.	.	X	223;280;280;190;26;190;215	.	ENSP00000318480:Q280X	Q	-	1	0	YME1L1	27463790	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	8.559000	0.90708	1.338000	0.45544	-0.339000	0.08088	CAA		0.368	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312		6	92	0	0	0	0.00308	0	6	92		
CUL2	8453	broad.mit.edu	37	10	35317752	35317752	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:35317752T>A	ENST00000374748.1	-	17	1916	c.1603A>T	c.(1603-1605)Aaa>Taa	p.K535*	CUL2_ENST00000374746.1_Nonsense_Mutation_p.K535*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.K535*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.K478*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.K535*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.K554*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.K535*			Q13617	CUL2_HUMAN	cullin 2	535					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGTACACTTTTTTCTAATTCC	0.323																																						uc001ixv.2		NaN																	0				ovary(3)	3						c.(1603-1605)AAA>TAA		cullin 2							41.0	43.0	42.0					10																	35317752		2202	4300	6502	SO:0001587	stop_gained	8453				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|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35317752T>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1603A>T	10.37:g.35317752T>A	ENSP00000363880:p.Lys535*					CUL2_uc009xma.2_Nonsense_Mutation_p.K404*|CUL2_uc010qer.1_Nonsense_Mutation_p.K554*|CUL2_uc001ixw.2_Nonsense_Mutation_p.K535*|CUL2_uc010qes.1_Nonsense_Mutation_p.K472*	p.K535*	NM_003591	NP_003582	Q13617	CUL2_HUMAN			16	1813	-			535					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Nonsense_Mutation	SNP	ENST00000374748.1	37	c.1603A>T	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	39	7.439446	0.98286	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.5723	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	X	535;535;535;535;478;535;554	.	ENSP00000363874:K535X	K	-	1	0	CUL2	35357758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.326000	0.78906	0.533000	0.62120	AAA		0.323	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1		NM_003591		3	39	0	0	0	0.004672	0	3	39		
BMS1	9790	broad.mit.edu	37	10	43293936	43293936	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:43293936G>C	ENST00000374518.5	+	12	2173	c.2110G>C	c.(2110-2112)Gaa>Caa	p.E704Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	704					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAATGAAGAAGAAGATGATGA	0.438																																						uc001jaj.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2110-2112)GAA>CAA		BMS1-like, ribosome assembly protein							130.0	132.0	131.0					10																	43293936		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43293936G>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2110G>C	10.37:g.43293936G>C	ENSP00000363642:p.Glu704Gln						p.E704Q	NM_014753	NP_055568	Q14692	BMS1_HUMAN			12	2468	+			704					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2110G>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344075	0.41498	.	.	ENSG00000165733	ENST00000374518	T	0.52983	0.64	5.3	5.3	0.74995	.	0.865219	0.10692	N	0.645009	T	0.51517	0.1679	M	0.66297	2.02	0.51233	D	0.999913	B	0.31383	0.321	B	0.30251	0.113	T	0.48139	-0.9061	10	0.27785	T	0.31	.	19.0383	0.92987	0.0:0.0:1.0:0.0	.	704	Q14692	BMS1_HUMAN	Q	704	ENSP00000363642:E704Q	ENSP00000363642:E704Q	E	+	1	0	BMS1	42613942	1.000000	0.71417	0.625000	0.29200	0.182000	0.23217	8.374000	0.90133	2.464000	0.83262	0.644000	0.83932	GAA		0.438	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753		7	75	0	0	0	0.004482	0	7	75		
VDAC2	7417	broad.mit.edu	37	10	76982062	76982062	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:76982062C>T	ENST00000332211.6	+	8	850	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	VDAC2_ENST00000313132.4_Missense_Mutation_p.L228F|VDAC2_ENST00000535553.1_Missense_Mutation_p.L174F|VDAC2_ENST00000543351.1_Missense_Mutation_p.L213F	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	213					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGTGAAGATCTTGACACTTC	0.358																																						uc001jwz.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(637-639)CTT>TTT		voltage-dependent anion channel 2	Dihydroxyaluminium(DB01375)						99.0	96.0	97.0					10																	76982062		2203	4297	6500	SO:0001583	missense	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76982062C>T	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.637C>T	10.37:g.76982062C>T	ENSP00000361686:p.Leu213Phe					VDAC2_uc010qld.1_Missense_Mutation_p.L174F|VDAC2_uc001jxa.2_Missense_Mutation_p.L228F|VDAC2_uc010qle.1_Missense_Mutation_p.L174F	p.L213F	NM_003375	NP_003366	P45880	VDAC2_HUMAN			8	796	+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		213			Beta stranded; (By similarity).		Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	c.637C>T	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814344	0.50527	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000332211;ENST00000535553;ENST00000313132	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.2	4.28	0.50868	.	0.139527	0.49916	N	0.000123	T	0.49474	0.1559	M	0.81614	2.55	0.58432	D	0.999993	B;B;B	0.20164	0.042;0.034;0.01	B;B;B	0.28784	0.054;0.094;0.054	T	0.49113	-0.8973	10	0.39692	T	0.17	.	8.2089	0.31471	0.156:0.7637:0.0:0.0803	.	174;228;213	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	F	213;213;213;174;228	ENSP00000298468:L213F;ENSP00000443092:L213F;ENSP00000361686:L213F;ENSP00000445901:L174F;ENSP00000361635:L228F	ENSP00000298468:L213F	L	+	1	0	VDAC2	76652068	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.784000	0.62411	1.303000	0.44873	0.563000	0.77884	CTT		0.358	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1		NM_003375		9	97	0	0	0	0.000978	0	9	97		
ATRNL1	26033	broad.mit.edu	37	10	117040926	117040926	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:117040926G>T	ENST00000355044.3	+	14	2288	c.2162G>T	c.(2161-2163)aGc>aTc	p.S721I		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	721	PSI 3.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAACTTACCAGCTGTAAAAGC	0.353																																						uc001lcg.2		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2161-2163)AGC>ATC		attractin-like 1 precursor							89.0	86.0	87.0					10																	117040926		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117040926G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2162G>T	10.37:g.117040926G>T	ENSP00000347152:p.Ser721Ile						p.S721I	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	14	2548	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	721			PSI 3.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2162G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103984	0.76983	.	.	ENSG00000107518	ENST00000355044	T	0.16597	2.33	5.64	4.73	0.59995	C-type lectin-like (1);	0.075566	0.85682	D	0.000000	T	0.15869	0.0382	L	0.29908	0.895	0.80722	D	1	P	0.49961	0.93	B	0.41571	0.36	T	0.01684	-1.1296	10	0.66056	D	0.02	-17.4293	16.4792	0.84153	0.0:0.1313:0.8687:0.0	.	721	Q5VV63	ATRN1_HUMAN	I	721	ENSP00000347152:S721I	ENSP00000347152:S721I	S	+	2	0	ATRNL1	117030916	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.093000	0.76937	1.347000	0.45714	0.655000	0.94253	AGC		0.353	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349		11	66	1	0	2.31682e-05	0.003163	2.44935e-05	11	66		
EBF3	253738	broad.mit.edu	37	10	131671831	131671831	+	Silent	SNP	G	G	A	rs147554322		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:131671831G>A	ENST00000355311.5	-	8	738	c.666C>T	c.(664-666)gaC>gaT	p.D222D	EBF3_ENST00000368648.3_Silent_p.D222D			Q9H4W6	COE3_HUMAN	early B-cell factor 3	222					multicellular organismal development (GO:0007275)|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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCACGTGGCCGTCCACGTTGA	0.522																																						uc001lki.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(664-666)GAC>GAT		early B-cell factor 3		G		1,4405	2.1+/-5.4	0,1,2202	52.0	50.0	50.0		666	2.6	1.0	10	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EBF3	NM_001005463.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		222/552	131671831	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131671831G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.666C>T	10.37:g.131671831G>A							p.D222D	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	8	725	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	222					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.666C>T																																																																																					0.522	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2		NM_001005463		3	48	0	0	0	0.004672	0	3	48		
MUC5AC	4586	broad.mit.edu	37	11	1154305	1154305	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:1154305G>A	ENST00000356191.2	+	2	151	c.151G>A	c.(151-153)Ggg>Agg	p.G51R				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	51					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGGCCCAGCGGTGAGTCTGA	0.667																																						uc009ycr.1		NaN																	0					0						c.(151-153)GGG>AGG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							16.0	16.0	16.0					11																	1154305		873	1986	2859	SO:0001630	splice_region_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1154305G>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.151+1G>A	11.37:g.1154305G>A							p.G51R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	3	277	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.151G>A		.	.	.	.	.	.	.	.	.	.	G	17.80	3.477790	0.63849	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.20598	2.23;2.06	2.8	2.8	0.32819	.	.	.	.	.	T	0.37919	0.1021	M	0.62723	1.935	.	.	.	D	0.89917	1.0	D	0.65443	0.935	T	0.52638	-0.8549	8	0.72032	D	0.01	.	9.1464	0.36935	0.0:0.0:1.0:0.0	.	51	A7Y9J9	.	R	51	ENSP00000435591:G51R;ENSP00000348519:G51R	ENSP00000348519:G51R	G	+	1	0	MUC5AC	1144305	0.928000	0.31464	0.935000	0.37517	0.061000	0.15899	1.364000	0.34171	1.568000	0.49683	0.290000	0.19541	GGG		0.667	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_001130382	Missense_Mutation	6	26	0	0	0	0.00308	0	6	26		
MUC5B	727897	broad.mit.edu	37	11	1263825	1263825	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:1263825G>C	ENST00000529681.1	+	31	5773	c.5715G>C	c.(5713-5715)tgG>tgC	p.W1905C	MUC5B_ENST00000447027.1_Missense_Mutation_p.W1908C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1905	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCTGGATCCTCACAA	0.637																																						uc009ycr.1		NaN																	0					0						c.(7792-7794)TGG>TGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							96.0	120.0	112.0					11																	1263825		2170	4243	6413	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263825G>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5715G>C	11.37:g.1263825G>C	ENSP00000436812:p.Trp1905Cys					MUC5B_uc001ltb.2_Missense_Mutation_p.W1908C	p.W2598C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7920	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1905			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7794G>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	6.412	0.444193	0.12164	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.57	2.82	-5.26	0.02772	.	.	.	.	.	T	0.11110	0.0271	L	0.43923	1.385	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.37384	-0.9708	9	0.87932	D	0	.	2.2287	0.03991	0.1421:0.2138:0.4301:0.2141	.	2598;1908	A7Y9J9;E9PBJ0	.;.	C	1905;1908;1906;1975	ENSP00000436812:W1905C;ENSP00000415793:W1908C	ENSP00000343037:W1906C	W	+	3	0	MUC5B	1220401	0.186000	0.23225	0.000000	0.03702	0.041000	0.13682	1.399000	0.34566	-1.291000	0.02368	0.134000	0.15878	TGG		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093		14	209	0	0	0	0.006122	0	14	209		
KCNQ1	3784	broad.mit.edu	37	11	2610039	2610039	+	Missense_Mutation	SNP	G	G	C	rs148266527		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:2610039G>C	ENST00000155840.5	+	10	1456	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	KCNQ1_ENST00000335475.5_Missense_Mutation_p.E323Q	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	450					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCCCCAGAAGAGCGGCGGCT	0.562																																						uc001lwn.2		NaN																	0				ovary(1)	1						c.(1348-1350)GAG>CAG		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						46.0	47.0	47.0					11																	2610039		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2610039G>C	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1348G>C	11.37:g.2610039G>C	ENSP00000155840:p.Glu450Gln					KCNQ1_uc009ydp.1_Missense_Mutation_p.E234Q|KCNQ1_uc001lwo.2_Missense_Mutation_p.E323Q	p.E450Q	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	10	1456	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	450			Cytoplasmic (Potential).		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.1348G>C	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731600	0.15507	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99292	-5.7;-5.65	5.02	4.11	0.48088	.	0.966614	0.08547	N	0.929530	D	0.96595	0.8889	N	0.08118	0	0.19575	N	0.999964	B;B;B	0.31383	0.321;0.215;0.215	B;B;B	0.34931	0.192;0.094;0.04	D	0.94386	0.7609	10	0.40728	T	0.16	-11.34	9.8842	0.41251	0.0964:0.0:0.9036:0.0	.	323;323;450	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	Q	450;323	ENSP00000155840:E450Q;ENSP00000334497:E323Q	ENSP00000155840:E450Q	E	+	1	0	KCNQ1	2566615	1.000000	0.71417	0.056000	0.19401	0.207000	0.24258	3.790000	0.55461	1.264000	0.44198	0.484000	0.47621	GAG		0.562	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2		NM_000218		4	15	0	0	0	0.000602	0	4	15		
OR56A4	120793	broad.mit.edu	37	11	6023979	6023979	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:6023979G>C	ENST00000330728.4	-	1	445	c.400C>G	c.(400-402)Ccc>Gcc	p.P134A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACCTTGGGGATGACGGTG	0.567																																						uc010qzv.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(400-402)CCC>GCC		olfactory receptor, family 56, subfamily A,							82.0	78.0	79.0					11																	6023979		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023979G>C	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.400C>G	11.37:g.6023979G>C	ENSP00000328215:p.Pro134Ala						p.P134A	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	400	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	82			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.400C>G	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131179	0.56828	.	.	ENSG00000183389	ENST00000330728	T	0.25414	1.8	3.62	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33309	U	0.005049	T	0.58581	0.2132	H	0.95539	3.685	0.38991	D	0.959141	D	0.76494	0.999	D	0.70227	0.968	T	0.69654	-0.5087	10	0.87932	D	0	.	10.3859	0.44140	0.1024:0.0:0.8976:0.0	.	82	Q8NGH8	O56A4_HUMAN	A	134	ENSP00000328215:P134A	ENSP00000328215:P134A	P	-	1	0	OR56A4	5980555	1.000000	0.71417	0.996000	0.52242	0.805000	0.45488	5.150000	0.64869	0.809000	0.34255	0.555000	0.69702	CCC		0.567	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2		NM_001005179		11	94	0	0	0	0.001855	0	11	94		
OR10A6	390093	broad.mit.edu	37	11	7950137	7950137	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:7950137C>G	ENST00000309838.2	-	1	72	c.73G>C	c.(73-75)Ggg>Cgg	p.G25R		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCCCCTGGAGCTCA	0.438																																						uc010rbh.1		NaN																	0				ovary(1)|skin(1)	2						c.(73-75)GGG>CGG		olfactory receptor, family 10, subfamily A,							64.0	67.0	66.0					11																	7950137		2201	4295	6496	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950137C>G	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.73G>C	11.37:g.7950137C>G	ENSP00000312470:p.Gly25Arg						p.G25R	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	73	-			25			Extracellular (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.73G>C	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.314458	0.01331	.	.	ENSG00000175393	ENST00000309838	T	0.00433	7.43	4.4	2.5	0.30297	.	0.933674	0.08826	N	0.888104	T	0.00241	0.0007	N	0.13003	0.285	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27839	-1.0062	10	0.24483	T	0.36	.	4.8018	0.13301	0.0:0.6283:0.1784:0.1933	.	25	Q8NH74	O10A6_HUMAN	R	25	ENSP00000312470:G25R	ENSP00000312470:G25R	G	-	1	0	OR10A6	7906713	0.000000	0.05858	0.927000	0.36925	0.006000	0.05464	-1.725000	0.01863	0.591000	0.29711	-0.143000	0.13931	GGG		0.438	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1		NM_001004461		4	89	0	0	0	0.009096	0	4	89		
SBF2	81846	broad.mit.edu	37	11	9851008	9851008	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:9851008C>T	ENST00000256190.8	-	28	3825	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1230	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCTCTTGTTCTATGCTACTG	0.378																																						uc001mib.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3688-3690)GAA>AAA		SET binding factor 2							122.0	118.0	119.0					11																	9851008		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9851008C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3688G>A	11.37:g.9851008C>T	ENSP00000256190:p.Glu1230Lys						p.E1230K	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	28	3826	-			1230			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3688G>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515631	0.96402	.	.	ENSG00000133812	ENST00000256190	D	0.91295	-2.82	5.62	5.62	0.85841	Myotubularin phosphatase domain (1);	0.140929	0.64402	D	0.000005	D	0.96100	0.8729	M	0.88181	2.935	0.80722	D	1	D	0.65815	0.995	D	0.69654	0.965	D	0.95907	0.8920	10	0.54805	T	0.06	.	19.6604	0.95864	0.0:1.0:0.0:0.0	.	1230	Q86WG5	MTMRD_HUMAN	K	1230	ENSP00000256190:E1230K	ENSP00000256190:E1230K	E	-	1	0	SBF2	9807584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.693000	0.84214	2.648000	0.89879	0.655000	0.94253	GAA		0.378	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2		NM_030962		5	93	0	0	0	0.001984	0	5	93		
NAV2	89797	broad.mit.edu	37	11	20113769	20113769	+	Silent	SNP	G	G	T	rs371451446		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:20113769G>T	ENST00000396087.3	+	31	5946	c.5847G>T	c.(5845-5847)ctG>ctT	p.L1949L	NAV2_ENST00000360655.4_Silent_p.L1826L|NAV2_ENST00000311043.8_Silent_p.L954L|NAV2_ENST00000349880.4_Silent_p.L1890L|NAV2_ENST00000540292.1_Silent_p.L1880L|NAV2_ENST00000527559.2_Silent_p.L1878L|NAV2_ENST00000396085.1_Silent_p.L1893L|NAV2_ENST00000533917.1_Silent_p.L954L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1949					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAGAGAAGCTGAAAGCTGAGA	0.498																																						uc001mpr.3		NaN																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(5677-5679)CTG>CTT		neuron navigator 2 isoform 1							69.0	73.0	72.0					11																	20113769		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20113769G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5847G>T	11.37:g.20113769G>T						NAV2_uc001mpp.2_Silent_p.L1826L|NAV2_uc009yhx.2_Silent_p.L954L|NAV2_uc009yhz.2_Silent_p.L535L|NAV2_uc001mpu.2_Silent_p.L328L	p.L1893L	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			28	6040	+			1949			Potential.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.5679G>T	CCDS58126.1																																																																																				0.498	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117		6	91	1	0	0.00198382	0.001984	0.0020327	6	91		
NAV2	89797	broad.mit.edu	37	11	20113776	20113776	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:20113776G>A	ENST00000396087.3	+	31	5953	c.5854G>A	c.(5854-5856)Gag>Aag	p.E1952K	NAV2_ENST00000360655.4_Missense_Mutation_p.E1829K|NAV2_ENST00000311043.8_Missense_Mutation_p.E957K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1893K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1883K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1881K|NAV2_ENST00000396085.1_Missense_Mutation_p.E1896K|NAV2_ENST00000533917.1_Missense_Mutation_p.E957K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1952					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGAAAGCTGAGAATGATCG	0.507																																						uc001mpr.3		NaN																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(5686-5688)GAG>AAG		neuron navigator 2 isoform 1							72.0	75.0	74.0					11																	20113776		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20113776G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5854G>A	11.37:g.20113776G>A	ENSP00000379396:p.Glu1952Lys					NAV2_uc001mpp.2_Missense_Mutation_p.E1829K|NAV2_uc009yhx.2_Missense_Mutation_p.E957K|NAV2_uc009yhz.2_Missense_Mutation_p.E538K|NAV2_uc001mpu.2_Missense_Mutation_p.E331K	p.E1896K	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			28	6047	+			1952			Potential.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5686G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392839	0.96009	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.40476	1.03;1.13;1.13;1.24;1.13;1.13;2.71;2.71	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.66848	0.2831	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.91635	0.998;0.941;0.999;0.978	T	0.61715	-0.7006	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1896;957;1893;1829	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	K	1829;1896;1893;1952;1881;1883;957;957	ENSP00000353871:E1829K;ENSP00000379394:E1896K;ENSP00000309577:E1893K;ENSP00000379396:E1952K;ENSP00000435395:E1881K;ENSP00000443489:E1883K;ENSP00000437316:E957K;ENSP00000312169:E957K	.	E	+	1	0	NAV2	20070352	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG		0.507	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117		6	97	0	0	0	0.00308	0	6	97		
DCDC1	341019	broad.mit.edu	37	11	31329201	31329201	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:31329201G>A	ENST00000452803.1	-	4	620	c.419C>T	c.(418-420)cCa>cTa	p.P140L	DCDC1_ENST00000597505.1_Missense_Mutation_p.P140L|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	140					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTGACCCACTGGAGCACTGAC	0.358																																						uc001msv.2		NaN																	0				skin(1)	1						c.(418-420)CCA>CTA		doublecortin domain containing 1							158.0	152.0	154.0					11																	31329201		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31329201G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.419C>T	11.37:g.31329201G>A	ENSP00000389792:p.Pro140Leu					DCDC1_uc001msu.1_5'UTR	p.P140L	NM_181807	NP_861523	P59894	DCDC1_HUMAN			4	621	-	Lung SC(675;0.225)		140					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.419C>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933455	0.52866	.	.	ENSG00000188682	ENST00000452803	T	0.39229	1.09	5.9	1.96	0.26148	.	0.252771	0.27896	N	0.017404	T	0.39489	0.1080	M	0.69823	2.125	0.35145	D	0.769229	B	0.20550	0.046	B	0.19946	0.027	T	0.42565	-0.9444	10	0.72032	D	0.01	.	7.724	0.28748	0.1896:0.128:0.6824:0.0	.	140	P59894	DCDC1_HUMAN	L	140	ENSP00000389792:P140L	ENSP00000343496:P140L	P	-	2	0	DCDC1	31285777	1.000000	0.71417	0.061000	0.19648	0.911000	0.54048	4.304000	0.59104	0.109000	0.17891	-0.142000	0.14014	CCA		0.358	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1		NM_181807		12	95	0	0	0	0.003163	0	12	95		
COMMD9	29099	broad.mit.edu	37	11	36297736	36297736	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:36297736G>A	ENST00000263401.5	-	5	423	c.407C>T	c.(406-408)tCa>tTa	p.S136L	LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000532705.1_Silent_p.L124L|COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000452374.2_Missense_Mutation_p.S94L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	136	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GATGCTGTCTGAGGAGGTTTT	0.552																																						uc001mwn.3		NaN																	0				ovary(1)	1						c.(406-408)TCA>TTA		COMM domain containing 9 isoform 1							116.0	95.0	102.0					11																	36297736		2202	4298	6500	SO:0001583	missense	29099							g.chr11:36297736G>A	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.407C>T	11.37:g.36297736G>A	ENSP00000263401:p.Ser136Leu					COMMD9_uc009ykj.2_Missense_Mutation_p.S94L|COMMD9_uc009yki.1_5'Flank	p.S136L	NM_014186	NP_054905	Q9P000	COMD9_HUMAN			5	444	-	all_lung(20;0.211)	all_hematologic(20;0.107)	136			COMM.		E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	c.407C>T	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144045	0.94603	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374	T;T	0.16743	2.32;2.32	5.73	5.73	0.89815	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.53620	-0.8413	10	0.87932	D	0	4.4456	18.669	0.91504	0.0:0.0:1.0:0.0	.	94;136	Q9P000-2;Q9P000	.;COMD9_HUMAN	L	136;136;94	ENSP00000263401:S136L;ENSP00000392510:S94L	ENSP00000263401:S136L	S	-	2	0	COMMD9	36254312	1.000000	0.71417	0.988000	0.46212	0.773000	0.43773	8.331000	0.90022	2.693000	0.91896	0.563000	0.77884	TCA		0.552	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1		NM_014186		5	92	0	0	0	0.001168	0	5	92		
TSPAN18	90139	broad.mit.edu	37	11	44948255	44948255	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:44948255G>A	ENST00000520358.2	+	9	1061	c.646G>A	c.(646-648)Gag>Aag	p.E216K	TSPAN18_ENST00000340160.3_Missense_Mutation_p.E216K			Q96SJ8	TSN18_HUMAN	tetraspanin 18	216						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						CAACACCTTCGAGACCTACGT	0.592											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mye.3		NaN																	0					0						c.(646-648)GAG>AAG		tetraspanin 18 isoform 2							224.0	192.0	203.0					11																	44948255		2203	4299	6502	SO:0001583	missense	90139					integral to membrane		g.chr11:44948255G>A	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.646G>A	11.37:g.44948255G>A	ENSP00000429993:p.Glu216Lys		OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	927	TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.E216K	p.E216K	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN			7	807	+			216			Extracellular (Potential).		Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	c.646G>A	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.861500|1.861500	0.32884|0.32884	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000520358;ENST00000340160|ENST00000518429	T;T|.	0.77489|.	-1.1;-1.1|.	4.54|4.54	4.54|4.54	0.55810|0.55810	Tetraspanin, EC2 domain (1);|.	0.199825|.	0.51477|.	D|.	0.000091|.	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	P;D|.	0.53619|.	0.934;0.961|.	B;B|.	0.42692|.	0.28;0.395|.	T|T	0.52548|0.52548	-0.8561|-0.8561	10|5	0.36615|.	T|.	0.2|.	.|.	16.1126|16.1126	0.81273|0.81273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	216;216|.	Q8WUV1;Q96SJ8|.	.;TSN18_HUMAN|.	K|Q	216|219	ENSP00000429993:E216K;ENSP00000339820:E216K|.	ENSP00000339820:E216K|.	E|R	+|+	1|2	0|0	TSPAN18|TSPAN18	44904831|44904831	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.139000|0.139000	0.21198|0.21198	8.721000|8.721000	0.91446|0.91446	2.100000|2.100000	0.63781|0.63781	0.479000|0.479000	0.44913|0.44913	GAG|CGA		0.592	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3		NM_130783		19	252	0	0	0	0.00333	0	19	252		
OR5T3	390154	broad.mit.edu	37	11	56020432	56020432	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:56020432T>C	ENST00000303059.3	+	1	757	c.757T>C	c.(757-759)Ttg>Ctg	p.L253L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTCATTCTGTTGTCCATTCT	0.413																																						uc010rjd.1		NaN																	0					0						c.(757-759)TTG>CTG		olfactory receptor, family 5, subfamily T,							246.0	223.0	231.0					11																	56020432		2201	4295	6496	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020432T>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.757T>C	11.37:g.56020432T>C							p.L253L	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	757	+	Esophageal squamous(21;0.00448)		253			Cytoplasmic (Potential).		Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.757T>C	CCDS31524.1																																																																																				0.413	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1		NM_001004747		14	184	0	0	0	0.004007	0	14	184		
TNKS1BP1	85456	broad.mit.edu	37	11	57076793	57076793	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57076793C>G	ENST00000532437.1	-	5	3703	c.3392G>C	c.(3391-3393)aGa>aCa	p.R1131T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1131T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1131	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCACTCACTCTGTCGTTGCC	0.577																																						uc001njr.2		NaN																	0				skin(1)	1						c.(3391-3393)AGA>ACA		tankyrase 1-binding protein 1							91.0	86.0	88.0					11																	57076793		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076793C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3392G>C	11.37:g.57076793C>G	ENSP00000437271:p.Arg1131Thr					TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1131T|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R582T	p.R1131T	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	3704	-		all_epithelial(135;0.21)	1131			Gly-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3392G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248951	0.39797	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.40756	1.02;1.02	4.88	3.97	0.46021	.	0.250836	0.27072	N	0.021071	T	0.57301	0.2044	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.49273	-0.8957	10	0.72032	D	0.01	-12.6209	10.2327	0.43264	0.0:0.9062:0.0:0.0938	.	1131	Q9C0C2	TB182_HUMAN	T	1131	ENSP00000350990:R1131T;ENSP00000437271:R1131T	ENSP00000350990:R1131T	R	-	2	0	TNKS1BP1	56833369	0.001000	0.12720	0.003000	0.11579	0.466000	0.32739	1.168000	0.31859	1.073000	0.40885	0.462000	0.41574	AGA		0.577	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		13	144	0	0	0	0.00499	0	13	144		
SLC43A1	8501	broad.mit.edu	37	11	57259332	57259332	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57259332G>A	ENST00000278426.3	-	9	1230	c.875C>T	c.(874-876)tCt>tTt	p.S292F	SLC43A1_ENST00000528450.1_Missense_Mutation_p.S292F|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TAAGGGGACAGACCCTGGGGA	0.607											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nkk.2		NaN																	0					0						c.(874-876)TCT>TTT		solute carrier family 43, member 1							33.0	35.0	34.0					11																	57259332		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57259332G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.875C>T	11.37:g.57259332G>A	ENSP00000278426:p.Ser292Phe		OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1021	SLC43A1_uc001nkl.2_Missense_Mutation_p.S292F	p.S292F	NM_003627	NP_003618	O75387	LAT3_HUMAN			9	993	-			292						Missense_Mutation	SNP	ENST00000278426.3	37	c.875C>T	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018097	0.75275	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.55760	0.5;0.5	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);	0.061993	0.64402	D	0.000003	T	0.66645	0.2810	L	0.59436	1.845	0.80722	D	1	D	0.53151	0.958	P	0.60345	0.873	T	0.65751	-0.6092	10	0.49607	T	0.09	-12.2346	16.6355	0.85058	0.0:0.0:1.0:0.0	.	292	O75387	LAT3_HUMAN	F	292	ENSP00000278426:S292F;ENSP00000435673:S292F	ENSP00000278426:S292F	S	-	2	0	SLC43A1	57015908	0.926000	0.31397	0.993000	0.49108	0.990000	0.78478	4.137000	0.58010	2.670000	0.90874	0.650000	0.86243	TCT		0.607	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1		NM_003627		4	37	0	0	0	0.009096	0	4	37		
OR6Q1	219952	broad.mit.edu	37	11	57799186	57799186	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57799186C>T	ENST00000302622.3	+	1	785	c.762C>T	c.(760-762)ctC>ctT	p.L254L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L254L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGTGAGCCTCTTCTATGGCA	0.522																																						uc010rjz.1		NaN																	1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(760-762)CTC>CTT		olfactory receptor, family 6, subfamily Q,							183.0	158.0	167.0					11																	57799186		2201	4296	6497	SO:0001819	synonymous_variant	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799186C>T	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.762C>T	11.37:g.57799186C>T						OR9Q1_uc001nmj.2_Intron	p.L254L	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	762	+		Breast(21;0.0707)|all_epithelial(135;0.142)	254			Helical; Name=6; (Potential).		B9EKW1|Q6IFH1|Q96R34	Silent	SNP	ENST00000302622.3	37	c.762C>T	CCDS31541.1																																																																																				0.522	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1		NM_001005186		18	128	0	0	0	0.00333	0	18	128		
FAM111B	374393	broad.mit.edu	37	11	58893123	58893123	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:58893123C>G	ENST00000343597.3	+	4	1744	c.1553C>G	c.(1552-1554)aCt>aGt	p.T518S	FAM111B_ENST00000411426.1_Missense_Mutation_p.T488S|FAM111B_ENST00000529618.1_Missense_Mutation_p.T488S	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	518							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAACCTTCACTTATACAGAG	0.373																																						uc001nnl.2		NaN																	0				ovary(2)	2						c.(1552-1554)ACT>AGT		hypothetical protein LOC374393 isoform a							106.0	101.0	103.0					11																	58893123		2201	4294	6495	SO:0001583	missense	374393						catalytic activity	g.chr11:58893123C>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1553C>G	11.37:g.58893123C>G	ENSP00000341565:p.Thr518Ser					FAM111B_uc001nnm.2_Missense_Mutation_p.T488S|FAM111B_uc010rko.1_Missense_Mutation_p.T488S	p.T518S	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1796	+			518					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1553C>G	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	1.810	-0.474821	0.04414	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	D;D;D	0.88201	-2.35;-2.35;-2.35	4.63	-1.3	0.09259	Peptidase cysteine/serine, trypsin-like (1);	0.772305	0.11496	N	0.558253	T	0.70090	0.3184	N	0.04508	-0.205	0.09310	N	1	B	0.21520	0.057	B	0.22386	0.039	T	0.58086	-0.7698	10	0.02654	T	1	.	9.4018	0.38437	0.2408:0.2522:0.5069:0.0	.	518	Q6SJ93	F111B_HUMAN	S	488;488;518	ENSP00000393855:T488S;ENSP00000432875:T488S;ENSP00000341565:T518S	ENSP00000341565:T518S	T	+	2	0	FAM111B	58649699	0.000000	0.05858	0.002000	0.10522	0.115000	0.19883	-1.146000	0.03191	-0.472000	0.06881	0.655000	0.94253	ACT		0.373	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1		NM_198947		13	147	0	0	0	0.004007	0	13	147		
CDC42BPG	55561	broad.mit.edu	37	11	64595223	64595223	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:64595223C>T	ENST00000342711.5	-	31	3999	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATGGAGTTCTCGCTGAACACT	0.637																																						uc001obs.3		NaN																	0				lung(3)|central_nervous_system(1)	4						c.(4000-4002)GAG>AAG		CDC42 binding protein kinase gamma (DMPK-like)							106.0	88.0	94.0					11																	64595223		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64595223C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4000G>A	11.37:g.64595223C>T	ENSP00000345133:p.Glu1334Lys						p.E1334K	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			31	4000	-			1334			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.4000G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290905	0.95546	.	.	ENSG00000171219	ENST00000342711	T	0.04502	3.61	4.8	4.8	0.61643	Citron-like (2);	0.000000	0.43260	D	0.000595	T	0.22975	0.0555	M	0.80616	2.505	0.50467	D	0.999873	D	0.89917	1.0	D	0.77004	0.989	T	0.00792	-1.1564	10	0.87932	D	0	.	15.7563	0.78030	0.0:1.0:0.0:0.0	.	1334	Q6DT37	MRCKG_HUMAN	K	1334	ENSP00000345133:E1334K	ENSP00000345133:E1334K	E	-	1	0	CDC42BPG	64351799	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	6.808000	0.75206	2.398000	0.81561	0.462000	0.41574	GAG		0.637	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4		XM_290516		7	84	0	0	0	0.004482	0	7	84		
LTBP3	4054	broad.mit.edu	37	11	65318916	65318916	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:65318916C>T	ENST00000301873.5	-	10	1846	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	LTBP3_ENST00000536982.1_Silent_p.Q152Q|LTBP3_ENST00000322147.4_Silent_p.Q526Q|LTBP3_ENST00000532932.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	526					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTGGGTGGCTCTGCTGCACTG	0.652																																						uc001oej.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(1576-1578)CAG>CAA		latent transforming growth factor beta binding							71.0	54.0	60.0					11																	65318916		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65318916C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1578G>A	11.37:g.65318916C>T						LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.Q409Q|LTBP3_uc001oei.2_Silent_p.Q526Q|LTBP3_uc010roj.1_Silent_p.Q227Q|LTBP3_uc010rok.1_Silent_p.Q437Q	p.Q526Q	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			10	1847	-			526					O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.1578G>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340573	0.24339	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.56	3.61	0.41365	.	.	.	.	.	T	0.60077	0.2241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56805	-0.7918	4	.	.	.	.	10.1686	0.42895	0.0:0.797:0.203:0.0	.	.	.	.	K	177	.	.	E	-	1	0	LTBP3	65075492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.797000	0.38804	1.087000	0.41251	0.505000	0.49811	GAG		0.652	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1		NM_021070		5	55	0	0	0	0.001168	0	5	55		
TMEM151A	256472	broad.mit.edu	37	11	66063113	66063113	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:66063113G>A	ENST00000327259.4	+	2	1540	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	466						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GGATGGGCAGGGTGCTCTCTG	0.652																																						uc001ohl.2		NaN																	0				central_nervous_system(1)	1						c.(1396-1398)GGT>AGT		transmembrane protein 151A							7.0	8.0	8.0					11																	66063113		1688	3284	4972	SO:0001583	missense	256472					integral to membrane		g.chr11:66063113G>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.1396G>A	11.37:g.66063113G>A	ENSP00000326244:p.Gly466Ser						p.G466S	NM_153266	NP_694998	Q8N4L1	T151A_HUMAN			2	1508	+			466					Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.1396G>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665792	0.29604	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.14	3.19	0.36642	.	0.284575	0.27306	N	0.019971	T	0.14787	0.0357	N	0.08118	0	0.21967	N	0.999449	B	0.02656	0.0	B	0.04013	0.001	T	0.10800	-1.0614	9	0.28530	T	0.3	-18.8792	2.6896	0.05117	0.1027:0.1882:0.5149:0.1942	.	466	Q8N4L1	T151A_HUMAN	S	466	.	ENSP00000326244:G466S	G	+	1	0	TMEM151A	65819689	0.956000	0.32656	0.912000	0.35992	0.907000	0.53573	1.335000	0.33839	0.902000	0.36520	0.462000	0.41574	GGT		0.652	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1		NM_153266		5	27	0	0	0	0.001984	0	5	27		
ZDHHC24	254359	broad.mit.edu	37	11	66313210	66313210	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:66313210G>A	ENST00000310442.3	-	1	499	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000526986.1_Silent_p.L89L|ZDHHC24_ENST00000525925.1_5'UTR	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	89						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCCTGGCCCAGACCGCGGCCG	0.701																																						uc001oin.1		NaN																	0					0						c.(265-267)CTG>TTG		zinc finger, DHHC-type containing 24							4.0	6.0	5.0					11																	66313210		1744	3636	5380	SO:0001819	synonymous_variant	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66313210G>A	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.265C>T	11.37:g.66313210G>A						ACTN3_uc010rpi.1_5'Flank|ACTN3_uc001oio.1_5'Flank|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_Silent_p.L89L	p.L89L	NM_207340	NP_997223	Q6UX98	ZDH24_HUMAN			1	462	-			89					Q6PEW7|Q9BSJ0	Silent	SNP	ENST00000310442.3	37	c.265C>T	CCDS8143.1																																																																																				0.701	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1		NM_207340		3	14	0	0	0	0.004672	0	3	14		
RNF169	254225	broad.mit.edu	37	11	74545750	74545750	+	Missense_Mutation	SNP	A	A	G	rs545560010		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:74545750A>G	ENST00000299563.4	+	5	885	c.872A>G	c.(871-873)cAg>cGg	p.Q291R		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	291					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAAGGAGTCAGAGCTGTAGT	0.443																																						uc001ovl.3		NaN																	0				ovary(1)	1						c.(871-873)CAG>CGG		ring finger protein 169							91.0	95.0	94.0					11																	74545750		1998	4200	6198	SO:0001583	missense	254225						zinc ion binding	g.chr11:74545750A>G	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.872A>G	11.37:g.74545750A>G	ENSP00000299563:p.Gln291Arg					XRRA1_uc001ovm.2_Intron	p.Q291R	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			5	885	+			291					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.872A>G	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.302105	0.40694	.	.	ENSG00000166439	ENST00000299563	T	0.47528	0.84	5.86	4.71	0.59529	.	0.243330	0.45361	D	0.000374	T	0.36963	0.0986	L	0.39245	1.2	0.80722	D	1	B	0.29188	0.236	B	0.22386	0.039	T	0.14008	-1.0488	10	0.38643	T	0.18	-8.9242	11.5142	0.50511	0.8496:0.1504:0.0:0.0	.	291	Q8NCN4	RN169_HUMAN	R	291	ENSP00000299563:Q291R	ENSP00000299563:Q291R	Q	+	2	0	RNF169	74223398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.417000	0.34770	1.116000	0.41820	0.528000	0.53228	CAG		0.443	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1		XM_495886		4	58	0	0	0	0.009096	0	4	58		
SLCO2B1	11309	broad.mit.edu	37	11	74873787	74873787	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:74873787C>T	ENST00000289575.5	+	2	499	c.104C>T	c.(103-105)cCa>cTa	p.P35L	SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P13L|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	35					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	AAAGCCAGCCCAGACCCTCAG	0.592																																						uc001owb.2		NaN																	0				ovary(1)|breast(1)	2						c.(103-105)CCA>CTA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						138.0	126.0	130.0					11																	74873787		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74873787C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.104C>T	11.37:g.74873787C>T	ENSP00000289575:p.Pro35Leu					SLCO2B1_uc010rrp.1_RNA|SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Intron|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.P13L	p.P35L	NM_007256	NP_009187	O94956	SO2B1_HUMAN			2	491	+			35			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.104C>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	c	8.813	0.935769	0.18206	.	.	ENSG00000137491	ENST00000531713;ENST00000289575;ENST00000530556;ENST00000534004;ENST00000527180;ENST00000525845;ENST00000534186;ENST00000428359	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	3.92	2.0	0.26442	Major facilitator superfamily domain, general substrate transporter (1);	1.419460	0.04211	N	0.331817	T	0.29882	0.0747	N	0.08118	0	0.09310	N	0.999994	B	0.13145	0.007	B	0.10450	0.005	T	0.20638	-1.0269	10	0.11485	T	0.65	.	4.9648	0.14085	0.0:0.6583:0.2188:0.123	.	35	O94956	SO2B1_HUMAN	L	13;35;13;13;13;13;13;13	ENSP00000432889:P13L;ENSP00000289575:P35L;ENSP00000436513:P13L;ENSP00000433872:P13L;ENSP00000388912:P13L	ENSP00000289575:P35L	P	+	2	0	SLCO2B1	74551435	0.000000	0.05858	0.115000	0.21578	0.596000	0.36781	0.360000	0.20250	0.423000	0.26033	-0.215000	0.12644	CCA		0.592	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1		NM_007256		12	147	0	0	0	0.001368	0	12	147		
NCAM1	4684	broad.mit.edu	37	11	113130955	113130955	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:113130955G>A	ENST00000533760.1	+	16	2256	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	NCAM1_ENST00000316851.7_Missense_Mutation_p.E671K|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	681	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGCTGAGTATGAGGTCTACGT	0.567																																						uc001pns.2		NaN																	0				ovary(1)	1						c.(181-183)GAG>AAG		SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform;							107.0	115.0	113.0					11																	113130955		1958	4143	6101	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113130955G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1657G>A	11.37:g.113130955G>A	ENSP00000473281:p.Glu553Lys						p.E61K			P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	2	213	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	681			Extracellular (Potential).|Fibronectin type-III 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.181G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.600562	0.87055	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.58210	0.35	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.75517	0.3860	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.971	D;D;D;P	0.79784	0.993;0.988;0.985;0.888	T	0.78016	-0.2369	9	0.66056	D	0.02	-32.9766	19.4499	0.94862	0.0:0.0:1.0:0.0	.	553;671;681;706	E9PLH7;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	K	553;671;136	ENSP00000318472:E671K	ENSP00000318472:E671K	E	+	1	0	NCAM1	112636165	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.597000	0.82733	2.603000	0.88011	0.561000	0.74099	GAG		0.567	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2		NM_000615		8	88	0	0	0	0.006214	0	8	88		
USP2	9099	broad.mit.edu	37	11	119244114	119244114	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:119244114C>T	ENST00000260187.2	-	2	371	c.77G>A	c.(76-78)gGc>gAc	p.G26D	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	26	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGCACCATAGCCCGACTTGGC	0.597																																						uc001pwm.3		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(76-78)GGC>GAC		ubiquitin specific peptidase 2 isoform a							54.0	41.0	46.0					11																	119244114		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244114C>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.77G>A	11.37:g.119244114C>T	ENSP00000260187:p.Gly26Asp					USP2_uc001pwn.3_Intron	p.G26D	NM_004205	NP_004196	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	372	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	26			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.77G>A	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621469	0.46736	.	.	ENSG00000036672	ENST00000260187;ENST00000531070;ENST00000527843	T	0.22336	1.96	5.37	5.37	0.77165	.	1.065200	0.07095	N	0.839455	T	0.20536	0.0494	N	0.19112	0.55	0.80722	D	1	P	0.47191	0.891	B	0.41412	0.356	T	0.18304	-1.0341	10	0.72032	D	0.01	-8.5993	16.2585	0.82528	0.0:1.0:0.0:0.0	.	26	O75604	UBP2_HUMAN	D	26	ENSP00000260187:G26D	ENSP00000260187:G26D	G	-	2	0	USP2	118749324	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	3.743000	0.55104	2.507000	0.84556	0.561000	0.74099	GGC		0.597	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2		NM_171997		5	35	0	0	0	0.001168	0	5	35		
ARHGEF12	23365	broad.mit.edu	37	11	120312861	120312861	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:120312861A>G	ENST00000397843.2	+	15	1418	c.1252A>G	c.(1252-1254)Act>Gct	p.T418A	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T399A|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T315A	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	418	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTCCAAAGAAACTCGTCGCAT	0.358			T	MLL	AML																																	uc001pxl.1		NaN		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(1252-1254)ACT>GCT		Rho guanine nucleotide exchange factor (GEF) 12							145.0	123.0	130.0					11																	120312861		1853	4097	5950	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120312861A>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1252A>G	11.37:g.120312861A>G	ENSP00000380942:p.Thr418Ala					ARHGEF12_uc009zat.2_Missense_Mutation_p.T399A|ARHGEF12_uc010rzn.1_Missense_Mutation_p.T315A|ARHGEF12_uc009zau.1_Missense_Mutation_p.T315A	p.T418A	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	15	1259	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	418			RGSL.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.1252A>G	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319340	0.60524	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.82526	-1.62;-1.62;-1.62	5.45	5.45	0.79879	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.50627	D	0.000106	D	0.83450	0.5257	L	0.41710	1.295	0.54753	D	0.99998	P;P;P	0.44816	0.844;0.494;0.549	P;B;P	0.53593	0.73;0.396;0.531	T	0.80564	-0.1326	10	0.23302	T	0.38	-15.2135	14.3801	0.66905	1.0:0.0:0.0:0.0	.	315;399;418	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	A	418;399;315	ENSP00000380942:T418A;ENSP00000349056:T399A;ENSP00000432984:T315A	ENSP00000349056:T399A	T	+	1	0	ARHGEF12	119818071	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	8.365000	0.90108	2.185000	0.69588	0.528000	0.53228	ACT		0.358	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1		NM_015313		4	50	0	0	0	0.009096	0	4	50		
SORL1	6653	broad.mit.edu	37	11	121414362	121414362	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:121414362C>T	ENST00000260197.7	+	13	1920	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	597					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCACTGTCTTCACCATCTTTG	0.512																																						uc001pxx.2		NaN																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(1789-1791)TTC>TTT		sortilin-related receptor containing LDLR class							193.0	168.0	176.0					11																	121414362		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121414362C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1791C>T	11.37:g.121414362C>T							p.F597F	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	13	1871	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	597			Extracellular (Potential).		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.1791C>T	CCDS8436.1																																																																																				0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105		7	185	0	0	0	0.006214	0	7	185		
SORL1	6653	broad.mit.edu	37	11	121414368	121414368	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:121414368C>G	ENST00000260197.7	+	13	1926	c.1797C>G	c.(1795-1797)atC>atG	p.I599M	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	599					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTCACCATCTTTGGCTCGA	0.512																																						uc001pxx.2		NaN																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(1795-1797)ATC>ATG		sortilin-related receptor containing LDLR class							192.0	167.0	175.0					11																	121414368		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121414368C>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1797C>G	11.37:g.121414368C>G	ENSP00000260197:p.Ile599Met						p.I599M	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	13	1877	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	599			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1797C>G	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600872	0.46423	.	.	ENSG00000137642	ENST00000260197	T	0.33438	1.41	5.8	2.52	0.30459	VPS10 (1);	0.047538	0.85682	D	0.000000	T	0.30727	0.0774	L	0.31926	0.97	0.80722	D	1	D	0.65815	0.995	P	0.61592	0.891	T	0.21449	-1.0245	10	0.07990	T	0.79	.	7.0119	0.24867	0.1258:0.6535:0.0:0.2207	.	599	Q92673	SORL_HUMAN	M	599	ENSP00000260197:I599M	ENSP00000260197:I599M	I	+	3	3	SORL1	120919578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.463000	0.45058	0.807000	0.34208	0.655000	0.94253	ATC		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105		7	181	0	0	0	0.00308	0	7	181		
ADIPOR2	79602	broad.mit.edu	37	12	1895205	1895205	+	Silent	SNP	C	C	T	rs374984352		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:1895205C>T	ENST00000357103.4	+	8	1379	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	376					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCATGATCGGCGGGGGCT	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16340	0.0		0.0	False		,,,				2504	0.0					uc001qjm.2		NaN																	0					0						c.(1126-1128)ATC>ATT		adiponectin receptor 2		C		1,4405	2.1+/-5.4	0,1,2202	126.0	123.0	124.0		1128	-8.5	0.4	12		124	0,8600		0,0,4300	no	coding-synonymous	ADIPOR2	NM_024551.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		376/387	1895205	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1895205C>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.1128C>T	12.37:g.1895205C>T						ADIPOR2_uc001qjn.2_Silent_p.I376I	p.I376I	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		8	1325	+	Ovarian(42;0.107)		376			Extracellular (Potential).		Q53YY5|Q9H737	Silent	SNP	ENST00000357103.4	37	c.1128C>T	CCDS8511.1																																																																																				0.532	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2		NM_024551		7	117	0	0	0	0.001984	0	7	117		
PRMT8	56341	broad.mit.edu	37	12	3692332	3692332	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:3692332A>G	ENST00000382622.3	+	8	1327	c.937A>G	c.(937-939)Att>Gtt	p.I313V	PRMT8_ENST00000452611.2_Missense_Mutation_p.I304V|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	313	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTATTTTAATATTGAATTTAC	0.478																																						uc001qmf.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(937-939)ATT>GTT		HMT1 hnRNP methyltransferase-like 4							70.0	60.0	63.0					12																	3692332		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3692332A>G	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.937A>G	12.37:g.3692332A>G	ENSP00000372067:p.Ile313Val					PRMT8_uc009zed.2_Missense_Mutation_p.I304V|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.I127V	p.I313V	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		8	1304	+			313					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.937A>G	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	A	1.689	-0.504564	0.04261	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	D;D	0.84800	-1.9;-1.9	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	N	0.17345	0.48	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.003	T	0.67910	-0.5548	10	0.13470	T	0.59	.	13.6996	0.62599	1.0:0.0:0.0:0.0	.	304;313	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	V	304;313	ENSP00000414507:I304V;ENSP00000372067:I313V	ENSP00000372067:I313V	I	+	1	0	PRMT8	3562593	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	4.565000	0.60836	2.122000	0.65172	0.529000	0.55759	ATT		0.478	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2		NM_019854		4	20	0	0	0	0.000602	0	4	20		
CLSTN3	9746	broad.mit.edu	37	12	7290563	7290563	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:7290563C>G	ENST00000266546.6	+	8	1673	c.1223C>G	c.(1222-1224)tCt>tGt	p.S408C	CLSTN3_ENST00000537408.1_Missense_Mutation_p.S420C	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	408					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACGGCTTCTCTCACTACTCG	0.577																																						uc001qsr.2		NaN																	0				large_intestine(1)	1						c.(1222-1224)TCT>TGT		calsyntenin 3 precursor							119.0	107.0	111.0					12																	7290563		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7290563C>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1223C>G	12.37:g.7290563C>G	ENSP00000266546:p.Ser408Cys					CLSTN3_uc001qss.2_Missense_Mutation_p.S420C	p.S408C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			8	1501	+			408			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1223C>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438461	0.62955	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.02197	4.4;4.4	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.114616	0.64402	D	0.000009	T	0.10337	0.0253	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.976	T	0.01480	-1.1344	10	0.87932	D	0	-17.3333	18.3874	0.90471	0.0:1.0:0.0:0.0	.	420;408	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	C	408;420	ENSP00000266546:S408C;ENSP00000440679:S420C	ENSP00000266546:S408C	S	+	2	0	CLSTN3	7181830	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	5.725000	0.68507	2.573000	0.86826	0.462000	0.41574	TCT		0.577	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2		NM_014718		15	105	0	0	0	0.006122	0	15	105		
SLCO1B3	28234	broad.mit.edu	37	12	21036424	21036424	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:21036424T>A	ENST00000381545.3	+	13	1789	c.1570T>A	c.(1570-1572)Tgc>Agc	p.C524S	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C524S|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.C524S|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.C524S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	524					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CTTGGGTGAATGCCCAAGAGA	0.338																																						uc001rek.2		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1570-1572)TGC>AGC		solute carrier organic anion transporter family,							94.0	97.0	96.0					12																	21036424		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21036424T>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1570T>A	12.37:g.21036424T>A	ENSP00000370956:p.Cys524Ser					SLCO1B3_uc001rel.2_Missense_Mutation_p.C524S|SLCO1B3_uc010sil.1_Missense_Mutation_p.C524S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.C349S	p.C524S	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			12	1696	+	Esophageal squamous(101;0.149)		524			Extracellular (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1570T>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.101423	0.37048	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	3.58	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81163	0.4765	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.84795	0.0781	10	0.87932	D	0	.	9.7581	0.40515	0.0:0.0:0.0:1.0	.	524;524;524	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	S	524;524;524;348;524	ENSP00000261196:C524S;ENSP00000370956:C524S;ENSP00000451758:C524S;ENSP00000443225:C348S;ENSP00000441269:C524S	ENSP00000441269:C524S	C	+	1	0	SLCO1B3;RP11-545J16.1	20927691	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	5.062000	0.64326	1.495000	0.48549	0.260000	0.18958	TGC		0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844		5	79	0	0	0	0.001984	0	5	79		
DDX11	1663	broad.mit.edu	37	12	31242861	31242861	+	Silent	SNP	A	A	C	rs200751040|rs531309221	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:31242861A>C	ENST00000407793.2	+	9	1173	c.922A>C	c.(922-924)Agg>Cgg	p.R308R	DDX11_ENST00000542838.1_Silent_p.R308R|DDX11_ENST00000228264.6_Silent_p.R282R|DDX11_ENST00000350437.4_Silent_p.R308R|DDX11_ENST00000545668.1_Silent_p.R308R|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	308	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R308R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAAGAGGAGGAGGCAGGAGAA	0.587										Multiple Myeloma(12;0.14)				29	0.00579073	0.0038	0.0043	5008	,	,		20906	0.0099		0.007	False		,,,				2504	0.0041					uc001rjt.1		NaN																	2	Substitution - coding silent(2)		kidney(2)	breast(3)	3						c.(922-924)AGG>CGG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							5.0	7.0	6.0					12																	31242861		2036	4038	6074	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31242861A>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.922A>C	12.37:g.31242861A>C		Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.R308R|DDX11_uc001rjs.1_Silent_p.R308R|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.R308R|DDX11_uc001rjw.1_Silent_p.R282R|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA	p.R308R	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			9	1173	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		308			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.922A>C	CCDS44856.1																																																																																				0.587	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653		3	14	0	0	0	0.001984	0	3	14		
LRRK2	120892	broad.mit.edu	37	12	40631899	40631899	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:40631899G>A	ENST00000298910.7	+	5	623	c.565G>A	c.(565-567)Gag>Aag	p.E189K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E189K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	189					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTGCTGTTTGAGAGAGGTAT	0.318																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(565-567)GAG>AAG		leucine-rich repeat kinase 2							83.0	85.0	85.0					12																	40631899		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40631899G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.565G>A	12.37:g.40631899G>A	ENSP00000298910:p.Glu189Lys						p.E189K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			5	686	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	189					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.565G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916075	0.73098	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.50548	0.74;0.74;0.74	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.128820	0.51477	D	0.000095	T	0.37945	0.1022	L	0.43152	1.355	0.30692	N	0.751192	P	0.36222	0.544	B	0.33339	0.162	T	0.46898	-0.9158	10	0.36615	T	0.2	.	11.4492	0.50142	0.0842:0.0:0.9158:0.0	.	189	Q5S007	LRRK2_HUMAN	K	118;189;189	ENSP00000398726:E118K;ENSP00000341930:E189K;ENSP00000298910:E189K	ENSP00000298910:E189K	E	+	1	0	LRRK2	38918166	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.225000	0.51246	2.542000	0.85734	0.655000	0.94253	GAG		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		8	59	0	0	0	0.004482	0	8	59		
ARID2	196528	broad.mit.edu	37	12	46230554	46230554	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:46230554C>T	ENST00000334344.6	+	8	975	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S119F|ARID2_ENST00000444670.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	268					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTTGGGAGTCTTTATTTCAT	0.348			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(802-804)TCT>TTT		AT rich interactive domain 2 (ARID, RFX-like)							131.0	132.0	132.0					12																	46230554		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230554C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.803C>T	12.37:g.46230554C>T	ENSP00000335044:p.Ser268Phe					ARID2_uc001ror.2_Missense_Mutation_p.S268F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	p.S268F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	803	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	268					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.803C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511799	0.64522	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.51071	0.72;0.72	5.87	5.87	0.94306	.	0.157791	0.64402	D	0.000019	T	0.53850	0.1822	L	0.38175	1.15	0.80722	D	1	D	0.54397	0.966	P	0.52159	0.691	T	0.53578	-0.8419	10	0.62326	D	0.03	-11.2764	20.2009	0.98259	0.0:1.0:0.0:0.0	.	268	Q68CP9	ARID2_HUMAN	F	268;119	ENSP00000335044:S268F;ENSP00000415650:S119F	ENSP00000335044:S268F	S	+	2	0	ARID2	44516821	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.863000	0.56016	2.767000	0.95098	0.591000	0.81541	TCT		0.348	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		7	74	0	0	0	0.00308	0	7	74		
ARID2	196528	broad.mit.edu	37	12	46298835	46298835	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:46298835G>C	ENST00000334344.6	+	21	5654	c.5482G>C	c.(5482-5484)Gaa>Caa	p.E1828Q	ARID2_ENST00000457135.1_3'UTR|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.E1438Q	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1828					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAAGGAACAAGAAAAAGACTC	0.388			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(5482-5484)GAA>CAA		AT rich interactive domain 2 (ARID, RFX-like)							71.0	68.0	69.0					12																	46298835		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46298835G>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5482G>C	12.37:g.46298835G>C	ENSP00000335044:p.Glu1828Gln					ARID2_uc009zkg.1_Missense_Mutation_p.E1284Q|ARID2_uc009zkh.1_Missense_Mutation_p.E1455Q|ARID2_uc001rou.1_3'UTR	p.E1828Q	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	21	5482	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1828					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.5482G>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334994	0.24253	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000444670	T	0.33865	1.39	5.04	5.04	0.67666	.	0.071905	0.56097	D	0.000023	T	0.28001	0.0690	N	0.14661	0.345	0.80722	D	1	B	0.28128	0.201	B	0.29785	0.107	T	0.14531	-1.0469	10	0.62326	D	0.03	-14.8433	18.7433	0.91782	0.0:0.0:1.0:0.0	.	1828	Q68CP9	ARID2_HUMAN	Q	1828;945;945;1438	ENSP00000335044:E1828Q	ENSP00000335044:E1828Q	E	+	1	0	ARID2	44585102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.361000	0.73070	2.488000	0.83962	0.563000	0.77884	GAA		0.388	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		3	34	0	0	0	0.009096	0	3	34		
KANSL2	54934	broad.mit.edu	37	12	49054188	49054188	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:49054188C>T	ENST00000420613.2	-	8	1235	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	KANSL2_ENST00000553086.1_Intron|KANSL2_ENST00000550347.1_Silent_p.E579E|KANSL2_ENST00000548701.1_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	396					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TGGGCTGAAGCTCAGCAGCAC	0.493																																						uc001rrx.2		NaN																	0				ovary(2)	2						c.(1186-1188)GAG>GAA		hypothetical protein LOC54934							44.0	43.0	43.0					12																	49054188		1880	4109	5989	SO:0001819	synonymous_variant	54934							g.chr12:49054188C>T	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1188G>A	12.37:g.49054188C>T						C12orf41_uc001rrw.2_Intron|C12orf41_uc001rrz.2_Silent_p.E579E|C12orf41_uc001rry.2_Intron|C12orf41_uc001rru.2_Silent_p.E27E|C12orf41_uc001rrv.2_Intron	p.E396E	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN			8	1263	-			396					Q8N3B5|Q96CV0|Q9NX51	Silent	SNP	ENST00000420613.2	37	c.1188G>A	CCDS44869.1																																																																																				0.493	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1		NM_017822		5	35	0	0	0	0.001168	0	5	35		
KMT2D	8085	broad.mit.edu	37	12	49445757	49445757	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:49445757G>C	ENST00000301067.7	-	10	1708	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	570	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGACAGGCGAGATGCTTCAGG	0.592																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1708-1710)TCT>TGT		myeloid/lymphoid or mixed-lineage leukemia 2							114.0	119.0	117.0					12																	49445757		2137	4234	6371	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445757G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1709C>G	12.37:g.49445757G>C	ENSP00000301067:p.Ser570Cys	HNSCC(34;0.089)					p.S570C	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	1709	-			570			15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1709C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	6.950	0.545032	0.13312	.	.	ENSG00000167548	ENST00000301067	T	0.80304	-1.36	3.84	2.95	0.34219	.	.	.	.	.	T	0.61009	0.2313	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	B	0.36186	0.219	T	0.55792	-0.8085	9	0.87932	D	0	.	6.2857	0.21031	0.2224:0.0:0.7776:0.0	.	570	O14686	MLL2_HUMAN	C	570	ENSP00000301067:S570C	ENSP00000301067:S570C	S	-	2	0	MLL2	47732024	0.070000	0.21116	0.991000	0.47740	0.909000	0.53808	1.337000	0.33862	1.203000	0.43233	0.313000	0.20887	TCT		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				12	151	0	0	0	0.001368	0	12	151		
LARP4	113251	broad.mit.edu	37	12	50829320	50829320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:50829320C>T	ENST00000398473.2	+	5	560	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	LARP4_ENST00000522085.1_Nonsense_Mutation_p.Q150*|LARP4_ENST00000347328.5_Nonsense_Mutation_p.Q150*|LARP4_ENST00000293618.8_Nonsense_Mutation_p.Q150*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.Q156*|LARP4_ENST00000518561.1_Nonsense_Mutation_p.Q80*|LARP4_ENST00000518444.1_Nonsense_Mutation_p.Q149*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	150	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGATAGTGATCAGTTCATCCC	0.299																																						uc001rwp.1		NaN																	0				ovary(1)	1						c.(448-450)CAG>TAG		c-Mpl binding protein isoform a							98.0	91.0	93.0					12																	50829320		1812	4068	5880	SO:0001587	stop_gained	113251						nucleotide binding|RNA binding	g.chr12:50829320C>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.448C>T	12.37:g.50829320C>T	ENSP00000381490:p.Gln150*					LARP4_uc001rwo.1_Nonsense_Mutation_p.Q156*|LARP4_uc001rwq.1_Nonsense_Mutation_p.Q150*|LARP4_uc001rwr.1_Nonsense_Mutation_p.Q150*|LARP4_uc001rws.1_Nonsense_Mutation_p.Q149*|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Nonsense_Mutation_p.Q150*|LARP4_uc001rwn.2_Nonsense_Mutation_p.Q80*	p.Q150*	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			5	592	+			150			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonsense_Mutation	SNP	ENST00000398473.2	37	c.448C>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307610	0.81247	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000518561;ENST00000347328;ENST00000550260;ENST00000517559	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.3543	0.94404	0.0:1.0:0.0:0.0	.	.	.	.	X	150;156;80;150;80;150;150;149;149;80;150;148;80	.	ENSP00000293618:Q150X	Q	+	1	0	LARP4	49115587	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.620000	0.83070	2.746000	0.94184	0.561000	0.74099	CAG		0.299	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1		NM_052879		5	47	0	0	0	0.00308	0	5	47		
TFCP2	7024	broad.mit.edu	37	12	51500367	51500367	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:51500367G>A	ENST00000257915.5	-	8	1316	c.858C>T	c.(856-858)gtC>gtT	p.V286V	TFCP2_ENST00000549867.1_Silent_p.V286V|TFCP2_ENST00000307660.4_Silent_p.V235V|TFCP2_ENST00000548115.1_Silent_p.V235V	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	286	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGAGTTATTGACATACGTGA	0.398																																						uc001rxw.2		NaN																	0				ovary(1)	1						c.(856-858)GTC>GTT		transcription factor CP2							95.0	88.0	90.0					12																	51500367		2203	4300	6503	SO:0001819	synonymous_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51500367G>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.858C>T	12.37:g.51500367G>A						TFCP2_uc001rxv.1_Silent_p.V286V|TFCP2_uc009zlx.1_Silent_p.V235V|TFCP2_uc001rxx.2_Silent_p.V286V|TFCP2_uc009zly.1_Silent_p.V188V	p.V286V	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			8	1317	-			286			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Silent	SNP	ENST00000257915.5	37	c.858C>T	CCDS8808.1																																																																																				0.398	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1		NM_005653		5	55	0	0	0	0.001984	0	5	55		
KRT72	140807	broad.mit.edu	37	12	52984645	52984645	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:52984645G>C	ENST00000537672.2	-	6	1074	c.1064C>G	c.(1063-1065)tCa>tGa	p.S355*	KRT72_ENST00000293745.2_Nonsense_Mutation_p.S355*|KRT72_ENST00000398066.3_Nonsense_Mutation_p.S167*|KRT72_ENST00000354310.4_Intron	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	355	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCCTATCTCTGAGCGGATCCT	0.488																																						uc001sar.2		NaN																	0				ovary(5)|pancreas(1)	6						c.(1063-1065)TCA>TGA		keratin 72 isoform 1							96.0	92.0	93.0					12																	52984645		2203	4300	6503	SO:0001587	stop_gained	140807					keratin filament	structural molecule activity	g.chr12:52984645G>C	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1064C>G	12.37:g.52984645G>C	ENSP00000441160:p.Ser355*					KRT72_uc001saq.2_Nonsense_Mutation_p.S355*|KRT72_uc010sns.1_Intron|KRT72_uc010snt.1_Nonsense_Mutation_p.S167*	p.S355*	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	6	1150	-			355			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Nonsense_Mutation	SNP	ENST00000537672.2	37	c.1064C>G	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942318	0.92526	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	.	.	.	5.14	4.25	0.50352	.	0.000000	0.42172	D	0.000755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.2915	0.49252	0.0709:0.1274:0.8017:0.0	.	.	.	.	X	355;355;167	.	ENSP00000293745:S355X	S	-	2	0	KRT72	51270912	0.000000	0.05858	0.939000	0.37840	0.894000	0.52154	0.192000	0.17096	1.499000	0.48617	0.655000	0.94253	TCA		0.488	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1		NM_080747		12	98	0	0	0	0.00245	0	12	98		
RARG	5916	broad.mit.edu	37	12	53605514	53605514	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:53605514G>C	ENST00000425354.2	-	10	1798	c.1311C>G	c.(1309-1311)agC>agG	p.S437R	RARG_ENST00000338561.5_Missense_Mutation_p.S426R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.S365R|RARG_ENST00000543726.1_Missense_Mutation_p.S415R|RARG_ENST00000394426.1_Missense_Mutation_p.S437R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	437					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCATCCTCGCTAGAGGCAT	0.637																																						uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(1309-1311)AGC>AGG		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						45.0	42.0	43.0					12																	53605514		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53605514G>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1311C>G	12.37:g.53605514G>C	ENSP00000388510:p.Ser437Arg					RARG_uc001scd.2_Missense_Mutation_p.S426R|RARG_uc010sob.1_Missense_Mutation_p.S415R|RARG_uc001scf.2_Missense_Mutation_p.S437R|RARG_uc001scg.2_Missense_Mutation_p.S365R|RARG_uc010soc.1_Missense_Mutation_p.S316R	p.S437R	NM_000966	NP_000957	P13631	RARG_HUMAN			10	1796	-			437					B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.1311C>G	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561367	0.27915	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	D;D;D;D;D	0.92595	-2.91;-2.91;-3.07;-2.86;-2.94	4.53	-1.77	0.07982	.	1.533580	0.03720	N	0.251667	D	0.89529	0.6741	M	0.63843	1.955	0.39961	D	0.974667	P;B;B	0.38582	0.638;0.291;0.242	B;B;B	0.33339	0.162;0.071;0.03	T	0.77621	-0.2519	10	0.56958	D	0.05	.	10.0364	0.42131	0.582:0.0:0.418:0.0	.	415;437;426	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	R	437;437;365;426;415	ENSP00000388510:S437R;ENSP00000377947:S437R;ENSP00000332695:S365R;ENSP00000343698:S426R;ENSP00000444335:S415R	ENSP00000332695:S365R	S	-	3	2	RARG	51891781	.	.	0.916000	0.36221	0.896000	0.52359	.	.	-0.483000	0.06772	-0.253000	0.11424	AGC		0.637	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		3	23	0	0	0	0.004672	0	3	23		
ATF7	11016	broad.mit.edu	37	12	53994749	53994749	+	Silent	SNP	C	C	A	rs368388318		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:53994749C>A	ENST00000548446.2	-	2	148	c.36G>T	c.(34-36)ccG>ccT	p.P12P	ATF7_ENST00000420353.2_Silent_p.P12P|RP11-793H13.10_ENST00000591834.1_Silent_p.P12P|ATF7_ENST00000548118.2_Silent_p.P12P|ATF7_ENST00000328463.7_Silent_p.P12P|ATF7_ENST00000591397.1_Silent_p.P12P|ATF7_ENST00000456903.4_Silent_p.P12P|ATF7_ENST00000415113.1_Silent_p.P12P			P17544	ATF7_HUMAN	activating transcription factor 7	12	Transactivation domain.			P -> T (in Ref. 7; AAH42363). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GTCCACAGCCCGGGGCATTGC	0.433																																						uc001sdy.2		NaN																	0				ovary(1)|lung(1)	2						c.(34-36)CCG>CCT		activating transcription factor 7 isoform 1							44.0	43.0	43.0					12																	53994749		1890	4101	5991	SO:0001819	synonymous_variant	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53994749C>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.36G>T	12.37:g.53994749C>A						ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Silent_p.P12P|ATF7_uc010sol.1_Silent_p.P12P|ATF7_uc001sea.3_Silent_p.P12P|ATF7_uc001seb.3_Silent_p.P12P	p.P12P	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			1	57	-			12			C2H2-type.|Transactivation domain.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	37	c.36G>T																																																																																					0.433	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2		NM_001130059		5	38	1	0	0.00198382	0.001984	0.0020327	5	38		
ZBTB39	9880	broad.mit.edu	37	12	57398642	57398642	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:57398642G>C	ENST00000300101.2	-	2	145	c.60C>G	c.(58-60)ctC>ctG	p.L20L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGCACTTGTTGAGTTCCTTCA	0.557																																						uc001sml.1		NaN																	0				breast(1)	1						c.(58-60)CTC>CTG		zinc finger and BTB domain containing 39							117.0	110.0	112.0					12																	57398642		2203	4300	6503	SO:0001819	synonymous_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398642G>C	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.60C>G	12.37:g.57398642G>C						RDH16_uc010sqx.1_5'Flank	p.L20L	NM_014830	NP_055645	O15060	ZBT39_HUMAN			2	146	-			20					A7MD38|Q9UD98	Silent	SNP	ENST00000300101.2	37	c.60C>G	CCDS31839.1																																																																																				0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1		NM_014830		9	206	0	0	0	0.008291	0	9	206		
NUP107	57122	broad.mit.edu	37	12	69121157	69121157	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:69121157G>C	ENST00000229179.4	+	20	2054	c.1722G>C	c.(1720-1722)aaG>aaC	p.K574N	NUP107_ENST00000378905.2_Missense_Mutation_p.K423N|NUP107_ENST00000539906.1_Missense_Mutation_p.K545N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	574					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 export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGTTTTAAAGACATACATAC	0.269																																						uc001suf.2		NaN																	0				skin(1)	1						c.(1720-1722)AAG>AAC		nucleoporin 107kDa							55.0	63.0	60.0					12																	69121157		2198	4286	6484	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69121157G>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1722G>C	12.37:g.69121157G>C	ENSP00000229179:p.Lys574Asn					NUP107_uc001sug.2_Missense_Mutation_p.K421N|NUP107_uc010stj.1_Missense_Mutation_p.K545N	p.K574N	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		20	1837	+	Breast(13;6.25e-06)		574					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1722G>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328019	0.60743	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.57	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	L	0.42581	1.335	0.58432	D	0.999995	D;B;D	0.67145	0.996;0.168;0.996	D;B;D	0.70935	0.971;0.27;0.96	T	0.59810	-0.7384	8	.	.	.	-24.9357	9.7275	0.40342	0.2527:0.0:0.7473:0.0	.	545;423;574	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	N	574;423;545	.	.	K	+	3	2	NUP107	67407424	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.710000	0.37920	0.621000	0.30232	0.650000	0.86243	AAG		0.269	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1		NM_020401		4	83	0	0	0	0.000602	0	4	83		
LGR5	8549	broad.mit.edu	37	12	71960693	71960693	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:71960693G>A	ENST00000266674.5	+	11	1381		c.e11+1		LGR5_ENST00000536515.1_Splice_Site|LGR5_ENST00000540815.2_Splice_Site			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5						G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCAAGTGCTGTGCGTATCAG	0.393																																						uc001swl.2		NaN																	0				lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.e11+1		leucine-rich repeat-containing G protein-coupled							175.0	159.0	164.0					12																	71960693		2203	4300	6503	SO:0001630	splice_region_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71960693G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1070+1G>A	12.37:g.71960693G>A						LGR5_uc001swm.2_Splice_Site_p.L333_splice|LGR5_uc001swn.1_RNA	p.L357_splice	NM_003667	NP_003658	O75473	LGR5_HUMAN			11	1118	+								D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Splice_Site	SNP	ENST00000266674.5	37	c.1070_splice	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969838	0.74246	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1191	0.97953	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGR5	70246960	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.864000	0.87037	2.825000	0.97269	0.655000	0.94253	.		0.393	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1		NM_003667	Intron	6	89	0	0	0	0.001984	0	6	89		
EEA1	8411	broad.mit.edu	37	12	93226360	93226360	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:93226360C>G	ENST00000322349.8	-	11	1446	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	394					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTAAACTCCGCCTTTA	0.358																																						uc001tck.2		NaN																	0				ovary(2)|skin(1)	3						c.(1180-1182)GAG>GAC		early endosome antigen 1, 162kD							176.0	165.0	168.0					12																	93226360		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93226360C>G	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1182G>C	12.37:g.93226360C>G	ENSP00000317955:p.Glu394Asp						p.E394D	NM_003566	NP_003557	Q15075	EEA1_HUMAN			11	1447	-			394			Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1182G>C	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687795	0.48097	.	.	ENSG00000102189	ENST00000322349	T	0.69926	-0.44	5.52	2.22	0.28083	.	0.000000	0.53938	D	0.000049	T	0.67859	0.2938	L	0.36672	1.1	0.49687	D	0.999815	D	0.64830	0.994	D	0.70716	0.97	T	0.62964	-0.6742	10	0.34782	T	0.22	.	7.1045	0.25356	0.0:0.5144:0.0:0.4856	.	394	Q15075	EEA1_HUMAN	D	394	ENSP00000317955:E394D	ENSP00000317955:E394D	E	-	3	2	EEA1	91750491	0.996000	0.38824	0.979000	0.43373	0.332000	0.28634	0.544000	0.23253	0.642000	0.30620	0.655000	0.94253	GAG		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566		9	201	0	0	0	0.000978	0	9	201		
FGD6	55785	broad.mit.edu	37	12	95566467	95566467	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:95566467G>A	ENST00000343958.4	-	3	2718	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F	FGD6_ENST00000549499.1_Missense_Mutation_p.S832F|FGD6_ENST00000546711.1_Missense_Mutation_p.S832F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	832				S -> P (in Ref. 3; CAD98096). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCCTCATCAGAGGGAAGGTC	0.433																																						uc001tdp.3		NaN																	0				ovary(2)|breast(1)	3						c.(2494-2496)TCT>TTT		FYVE, RhoGEF and PH domain containing 6							183.0	176.0	179.0					12																	95566467		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95566467G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2495C>T	12.37:g.95566467G>A	ENSP00000344446:p.Ser832Phe					FGD6_uc009zsx.2_5'UTR	p.S832F	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			3	2719	-			832	S -> P (in Ref. 3; CAD98096).				Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2495C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182793	0.78677	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.70749	-0.41;-0.51;-0.45	5.94	5.94	0.96194	.	0.000000	0.44285	D	0.000463	T	0.81079	0.4748	M	0.62723	1.935	0.42590	D	0.993249	D	0.71674	0.998	D	0.64042	0.921	T	0.81660	-0.0832	10	0.59425	D	0.04	-15.333	15.8592	0.79009	0.0:0.0:1.0:0.0	.	832	Q6ZV73	FGD6_HUMAN	F	832	ENSP00000344446:S832F;ENSP00000450342:S832F;ENSP00000449005:S832F	ENSP00000344446:S832F	S	-	2	0	FGD6	94090598	1.000000	0.71417	0.958000	0.39756	0.988000	0.76386	5.471000	0.66762	2.816000	0.96949	0.561000	0.74099	TCT		0.433	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1		NM_018351		10	163	0	0	0	0.000978	0	10	163		
NUAK1	9891	broad.mit.edu	37	12	106500216	106500216	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:106500216G>C	ENST00000261402.2	-	2	1707	c.328C>G	c.(328-330)Ctc>Gtc	p.L110V	RP11-114F10.3_ENST00000548901.1_RNA	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGATGGTTGAGAGATGACATG	0.373																																						uc001tlj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(328-330)CTC>GTC		AMPK-related protein kinase 5							189.0	154.0	166.0					12																	106500216		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106500216G>C	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.328C>G	12.37:g.106500216G>C	ENSP00000261402:p.Leu110Val						p.L110V	NM_014840	NP_055655	O60285	NUAK1_HUMAN			2	1708	-			110			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.328C>G	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043464	0.75732	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.32988	1.43	5.93	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000092	T	0.52141	0.1716	M	0.66939	2.045	0.80722	D	1	D	0.55605	0.972	D	0.64144	0.922	T	0.56553	-0.7960	10	0.87932	D	0	.	14.8705	0.70453	0.0684:0.0:0.9316:0.0	.	110	O60285	NUAK1_HUMAN	V	110	ENSP00000261402:L110V	ENSP00000261402:L110V	L	-	1	0	NUAK1	105024346	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	1.527000	0.49086	0.555000	0.69702	CTC		0.373	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2		NM_014840		3	33	0	0	0	0.009096	0	3	33		
IFT81	28981	broad.mit.edu	37	12	110641690	110641690	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:110641690G>C	ENST00000242591.5	+	15	2085	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E527Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	527					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ggagtgtgatgaaaagaaatc	0.388																																						uc001tqi.2		NaN																	0				ovary(1)	1						c.(1579-1581)GAA>CAA		intraflagellar transport 81-like isoform 1							123.0	115.0	117.0					12																	110641690		1857	4105	5962	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110641690G>C	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1579G>C	12.37:g.110641690G>C	ENSP00000242591:p.Glu527Gln					IFT81_uc001tqh.2_Missense_Mutation_p.E527Q|IFT81_uc001tqj.2_RNA	p.E527Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			15	1709	+			527			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1579G>C	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851421	0.51270	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.15372	2.43;2.43	5.48	5.48	0.80851	.	0.285942	0.43110	N	0.000610	T	0.24736	0.0600	M	0.62723	1.935	0.80722	D	1	B	0.19445	0.036	B	0.31686	0.134	T	0.02042	-1.1224	10	0.37606	T	0.19	-3.0867	16.4291	0.83835	0.0:0.0:1.0:0.0	.	527	Q8WYA0	IFT81_HUMAN	Q	527	ENSP00000449718:E527Q;ENSP00000242591:E527Q	ENSP00000242591:E527Q	E	+	1	0	IFT81	109126073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.873000	0.63057	2.723000	0.93209	0.650000	0.86243	GAA		0.388	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1		NM_014055		9	36	0	0	0	0.004482	0	9	36		
XPO4	64328	broad.mit.edu	37	13	21442787	21442787	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:21442787G>C	ENST00000255305.6	-	2	194	c.123C>G	c.(121-123)ttC>ttG	p.F41L	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Missense_Mutation_p.F41L			Q9C0E2	XPO4_HUMAN	exportin 4	41					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAATGATAAGAATATGTGCT	0.338																																						uc001unq.3		NaN																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(121-123)TTC>TTG		exportin 4							169.0	160.0	163.0					13																	21442787		1889	4117	6006	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21442787G>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.123C>G	13.37:g.21442787G>C	ENSP00000255305:p.Phe41Leu					XPO4_uc010tcr.1_Intron	p.F41L	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	2	159	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	41					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.123C>G	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120521	0.56613	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.30448	1.53;1.53	6.08	3.45	0.39498	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	N	0.20483	0.58	0.53688	D	0.999976	B	0.18863	0.031	B	0.19666	0.026	T	0.12192	-1.0557	10	0.02654	T	1	-4.0615	9.1695	0.37072	0.2712:0.0:0.7288:0.0	.	41	Q9C0E2	XPO4_HUMAN	L	41	ENSP00000383444:F41L;ENSP00000255305:F41L	ENSP00000255305:F41L	F	-	3	2	XPO4	20340787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.068000	0.64364	0.471000	0.27319	0.655000	0.94253	TTC		0.338	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1		NM_022459		7	195	0	0	0	0.004482	0	7	195		
PARP4	143	broad.mit.edu	37	13	25008866	25008866	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:25008866C>T	ENST00000381989.3	-	31	4518	c.4413G>A	c.(4411-4413)ttG>ttA	p.L1471L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1471					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTTGGCAGTCAAAGAGGCTG	0.493																																						uc001upl.2		NaN																	0				ovary(3)|skin(1)	4						c.(4411-4413)TTG>TTA		poly (ADP-ribose) polymerase family, member 4							25.0	29.0	27.0					13																	25008866		2202	4299	6501	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25008866C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4413G>A	13.37:g.25008866C>T							p.L1471L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4519	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1471					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.4413G>A	CCDS9307.1																																																																																				0.493	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437		8	18	0	0	0	0.004482	0	8	18		
RXFP2	122042	broad.mit.edu	37	13	32313816	32313816	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:32313816C>T	ENST00000298386.2	+	1	138	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	RXFP2_ENST00000380314.1_Missense_Mutation_p.H23Y	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	23					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTCTACTTCATTTCATCGT	0.333																																						uc001utt.2		NaN																	0					0						c.(67-69)CAT>TAT		relaxin/insulin-like family peptide receptor 2							202.0	180.0	187.0					13																	32313816		2202	4299	6501	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32313816C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.67C>T	13.37:g.32313816C>T	ENSP00000298386:p.His23Tyr					RXFP2_uc010aba.2_Missense_Mutation_p.H6Y	p.H23Y	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	1	138	+		Lung SC(185;0.0262)	23			Extracellular (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.67C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	2.671	-0.277476	0.05679	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.71579	-0.58;-0.5	5.61	5.61	0.85477	.	0.650760	0.14703	N	0.303457	T	0.53417	0.1795	N	0.08118	0	0.24669	N	0.993425	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45396	-0.9264	10	0.40728	T	0.16	.	15.1396	0.72601	0.0:1.0:0.0:0.0	.	23;23	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Y	23	ENSP00000369670:H23Y;ENSP00000298386:H23Y	ENSP00000298386:H23Y	H	+	1	0	RXFP2	31211816	0.628000	0.27138	0.954000	0.39281	0.942000	0.58702	0.645000	0.24782	2.637000	0.89404	0.655000	0.94253	CAT		0.333	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1		NM_130806		5	88	0	0	0	0.001168	0	5	88		
LCP1	3936	broad.mit.edu	37	13	46708313	46708313	+	Silent	SNP	C	C	T	rs111548644		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:46708313C>T	ENST00000398576.2	-	17	1963	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	LCP1_ENST00000323076.2_Silent_p.V525V|LCP1_ENST00000435666.2_Silent_p.V94V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	525	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGTTTCATTCACCCAGTTGA	0.393			T	BCL6	NHL																																	uc001vaz.3		NaN		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(1573-1575)GTG>GTA		L-plastin		C		0,4406		0,0,2203	147.0	121.0	130.0		1575	3.3	1.0	13	dbSNP_132	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCP1	NM_002298.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		525/628	46708313	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46708313C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1575G>A	13.37:g.46708313C>T						LCP1_uc010ack.2_Silent_p.V94V|LCP1_uc001vay.3_Silent_p.V122V|LCP1_uc001vba.3_Silent_p.V525V	p.V525V	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	14	1701	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	525			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.1575G>A	CCDS9403.1																																																																																				0.393	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3		NM_002298		11	93	0	0	0	0.001368	0	11	93		
DACH1	1602	broad.mit.edu	37	13	72053440	72053440	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:72053440C>T	ENST00000359684.2	-	9	1892	c.1893G>A	c.(1891-1893)ttG>ttA	p.L631L	DACH1_ENST00000313174.7_Silent_p.L431L|DACH1_ENST00000354591.4_Silent_p.L377L|DACH1_ENST00000305425.4_Silent_p.L579L			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	631	DACHbox-C.|Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGCAACTTTCAACAGCCCCT	0.358																																						uc010thn.1		NaN																	0				breast(1)	1						c.(1729-1731)TTG>TTA		dachshund homolog 1 isoform a							116.0	108.0	110.0					13																	72053440		1810	4081	5891	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72053440C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1893G>A	13.37:g.72053440C>T						DACH1_uc010tho.1_Silent_p.L429L|DACH1_uc010thp.1_Silent_p.L375L	p.L577L	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2154	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	629			DACHbox-C.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1731G>A																																																																																					0.358	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392		8	132	0	0	0	0.006214	0	8	132		
DZIP1	22873	broad.mit.edu	37	13	96274734	96274734	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:96274734G>A	ENST00000376829.2	-	9	1824	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	DZIP1_ENST00000361396.2_Splice_Site_p.Q325*|DZIP1_ENST00000361156.3_Splice_Site_p.Q325*|DZIP1_ENST00000347108.3_Splice_Site_p.Q325*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	325					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTGACAGTTGCTATAAGATA	0.373																																						uc001vmk.2		NaN																	0				ovary(2)	2						c.(973-975)CAA>TAA		DAZ interacting protein 1 isoform 2							199.0	189.0	192.0					13																	96274734		2203	4300	6503	SO:0001630	splice_region_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96274734G>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.973-1C>T	13.37:g.96274734G>A						DZIP1_uc001vml.2_Nonsense_Mutation_p.Q325*	p.Q325*	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		9	1825	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		325			Potential.		Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	ENST00000376829.2	37	c.973C>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	45	11.964886	0.99622	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.01	5.01	0.66863	.	0.260112	0.38217	N	0.001769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-12.2302	16.9002	0.86110	0.0:0.0:1.0:0.0	.	.	.	.	X	325	.	ENSP00000257312:Q325X	Q	-	1	0	DZIP1	95072735	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.661000	0.74422	2.484000	0.83849	0.655000	0.94253	CAA		0.373	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3		NM_014934	Nonsense_Mutation	12	125	0	0	0	0.00499	0	12	125		
MBNL2	10150	broad.mit.edu	37	13	97999162	97999162	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:97999162A>G	ENST00000376673.3	+	5	1426	c.645A>G	c.(643-645)gtA>gtG	p.V215V	MBNL2_ENST00000343600.4_Silent_p.V215V|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000345429.6_Silent_p.V215V|MBNL2_ENST00000397601.1_Silent_p.V215V			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	215					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACAACACCGTAACCGTTTGTA	0.537																																						uc010aft.2		NaN																	0					0						c.(643-645)GTA>GTG		muscleblind-like 2 isoform 1							92.0	89.0	90.0					13																	97999162		2203	4300	6503	SO:0001819	synonymous_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97999162A>G	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.645A>G	13.37:g.97999162A>G						MBNL2_uc001vmz.2_Silent_p.V215V|MBNL2_uc001vna.2_Silent_p.V215V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank	p.V215V	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		5	1461	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		215			C3H1-type 4.		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	37	c.645A>G																																																																																					0.537	MBNL2-202	KNOWN	basic	protein_coding	protein_coding			NM_144778		14	102	0	0	0	0.004007	0	14	102		
UBAC2	337867	broad.mit.edu	37	13	99992667	99992667	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:99992667G>C	ENST00000403766.3	+	7	790	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	UBAC2_ENST00000376440.2_Missense_Mutation_p.E184Q|UBAC2_ENST00000460562.1_3'UTR	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	219					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGACACTTGAACCCATCTT	0.527																																						uc001voa.3		NaN																	0				ovary(1)	1						c.(655-657)GAA>CAA		UBA domain containing 2 isoform 1							92.0	82.0	85.0					13																	99992667		2203	4300	6503	SO:0001583	missense	337867					integral to membrane		g.chr13:99992667G>C	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.655G>C	13.37:g.99992667G>C	ENSP00000383911:p.Glu219Gln					UBAC2_uc010tiu.1_Missense_Mutation_p.E241Q|UBAC2_uc001vob.3_Missense_Mutation_p.E192Q|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Missense_Mutation_p.E106Q|UBAC2_uc001voc.2_Missense_Mutation_p.E184Q|UBAC2_uc010tiw.1_RNA|UBAC2_uc001voh.2_Missense_Mutation_p.E23Q	p.E219Q	NM_001144072	NP_001137544	Q8NBM4	UBAC2_HUMAN			7	1139	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		219			Cytoplasmic (Potential).		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	c.655G>C	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654822	0.88056	.	.	ENSG00000134882	ENST00000403766;ENST00000355700;ENST00000376440	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	M	0.69823	2.125	0.80722	D	1	P;D;P;P	0.89917	0.844;1.0;0.844;0.524	B;D;B;B	0.85130	0.282;0.997;0.268;0.148	T	0.76672	-0.2873	8	.	.	.	-21.6985	19.8676	0.96824	0.0:0.0:1.0:0.0	.	149;184;219;219	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	Q	219;85;184	.	.	E	+	1	0	UBAC2	98790668	1.000000	0.71417	0.963000	0.40424	0.975000	0.68041	8.478000	0.90428	2.941000	0.99782	0.655000	0.94253	GAA		0.527	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1		NM_177967		4	94	0	0	0	0.000602	0	4	94		
ZIC2	7546	broad.mit.edu	37	13	100637333	100637333	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:100637333G>A	ENST00000376335.3	+	2	1502	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	403			T -> K (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCCTACACGCACCCCAGCT	0.667																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NaN																	0					0						c.(1207-1209)ACG>ACA		zinc finger protein of the cerebellum 2							120.0	102.0	108.0					13																	100637333		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637333G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1209G>A	13.37:g.100637333G>A							p.T403T	NM_007129	NP_009060	O95409	ZIC2_HUMAN			2	1209	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		403		T -> K (in HPE5).	C2H2-type 5.		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1209G>A	CCDS9495.1																																																																																				0.667	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2		NM_007129		13	124	0	0	0	0.004007	0	13	124		
EFNB2	1948	broad.mit.edu	37	13	107147270	107147270	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:107147270C>A	ENST00000245323.4	-	4	721	c.572G>T	c.(571-573)gGa>gTa	p.G191V		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	191					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGAACTTCTTCCATTTGTACC	0.393																																						uc001vqi.2		NaN																	0				ovary(1)	1						c.(571-573)GGA>GTA		ephrin B2 precursor							313.0	286.0	295.0					13																	107147270		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107147270C>A	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.572G>T	13.37:g.107147270C>A	ENSP00000245323:p.Gly191Val						p.G191V	NM_004093	NP_004084	P52799	EFNB2_HUMAN			4	597	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		191			Extracellular (Potential).		Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.572G>T	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285032	0.40394	.	.	ENSG00000125266	ENST00000245323	D	0.90385	-2.66	6.07	6.07	0.98685	.	0.249228	0.47093	D	0.000242	D	0.86518	0.5952	L	0.31664	0.95	0.80722	D	1	B	0.18166	0.026	B	0.16289	0.015	T	0.79657	-0.1712	10	0.25751	T	0.34	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	191	P52799	EFNB2_HUMAN	V	191	ENSP00000245323:G191V	ENSP00000245323:G191V	G	-	2	0	EFNB2	105945271	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.765000	0.55272	2.890000	0.99128	0.650000	0.86243	GGA		0.393	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4		NM_004093		13	225	1	0	5.01169e-05	0.00499	5.26492e-05	13	225		
CARS2	79587	broad.mit.edu	37	13	111296814	111296814	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:111296814C>T	ENST00000257347.4	-	13	1397	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	445					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AGCAGGACTTCTCGGCCCTTC	0.423																																						uc001vrd.2		NaN																	0					0						c.(1333-1335)AGA>AAA		cysteinyl-tRNA synthetase 2, mitochondrial	L-Cysteine(DB00151)						84.0	82.0	83.0					13																	111296814		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111296814C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1334G>A	13.37:g.111296814C>T	ENSP00000257347:p.Arg445Lys					CARS2_uc010tjm.1_RNA	p.R445K	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		13	1374	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		445					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.1334G>A	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657275	0.47467	.	.	ENSG00000134905	ENST00000257347	T	0.40756	1.02	5.0	5.0	0.66597	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.77103	2.36	0.34319	D	0.6864	B	0.30146	0.27	B	0.25759	0.063	T	0.61302	-0.7090	10	0.44086	T	0.13	-2.3782	17.0711	0.86573	0.0:1.0:0.0:0.0	.	445	Q9HA77	SYCM_HUMAN	K	445	ENSP00000257347:R445K	ENSP00000257347:R445K	R	-	2	0	CARS2	110094815	0.975000	0.34042	0.052000	0.19188	0.028000	0.11728	4.976000	0.63785	2.314000	0.78098	0.462000	0.41574	AGA		0.423	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3		NM_024537		5	65	0	0	0	0.001984	0	5	65		
TOX4	9878	broad.mit.edu	37	14	21960463	21960463	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:21960463G>A	ENST00000405508.1	+	7	1095	c.819G>A	c.(817-819)aaG>aaA	p.K273K	TOX4_ENST00000448790.2_Silent_p.K250K|TOX4_ENST00000262709.3_Silent_p.K273K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	273						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGTATATAAGAGGAAAACTG	0.358																																						uc001waz.2		NaN																	0				ovary(1)	1						c.(817-819)AAG>AAA		epidermal Langerhans cell protein LCP1							65.0	68.0	67.0					14																	21960463		2203	4300	6503	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960463G>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.819G>A	14.37:g.21960463G>A						TOX4_uc001way.2_Silent_p.K143K|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.K250K|TOX4_uc010tlv.1_Silent_p.K143K	p.K273K	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	6	922	+	all_cancers(95;0.000465)		273			HMG box.		B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.819G>A	CCDS32043.1																																																																																				0.358	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2		NM_014828		8	84	0	0	0	0.006214	0	8	84		
MIPOL1	145282	broad.mit.edu	37	14	37969203	37969203	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:37969203G>C	ENST00000327441.7	+	13	1588	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	MIPOL1_ENST00000536774.1_Missense_Mutation_p.E193D|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E343D|MIPOL1_ENST00000539062.2_Missense_Mutation_p.E343D|MIPOL1_ENST00000537471.1_Missense_Mutation_p.E374D|MIPOL1_ENST00000396294.2_Missense_Mutation_p.E374D|MIPOL1_ENST00000556451.1_Missense_Mutation_p.E343D	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	374						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAACAGAGAGAACATTGTTT	0.348																																						uc001wuc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1120-1122)GAG>GAC		mirror-image polydactyly 1							94.0	92.0	93.0					14																	37969203		2203	4300	6503	SO:0001583	missense	145282							g.chr14:37969203G>C	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1122G>C	14.37:g.37969203G>C	ENSP00000333539:p.Glu374Asp					MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.E343D|MIPOL1_uc001wud.2_Missense_Mutation_p.E374D|MIPOL1_uc010ams.2_Missense_Mutation_p.E374D|MIPOL1_uc001wue.2_Missense_Mutation_p.E343D|MIPOL1_uc010amt.2_Missense_Mutation_p.E193D	p.E374D	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	13	1625	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		374			Potential.		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.1122G>C	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246413	0.22796	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.54866	0.6;0.62;0.55;0.6;0.6;0.55	5.24	2.38	0.29361	.	0.000000	0.53938	D	0.000042	T	0.42787	0.1218	L	0.50333	1.59	0.28188	N	0.927891	B;B	0.29115	0.096;0.233	B;B	0.27796	0.083;0.083	T	0.31503	-0.9941	10	0.38643	T	0.18	-4.3906	8.9373	0.35708	0.136:0.1227:0.7414:0.0	.	374;343	Q8TD10;Q49AL5	MIPO1_HUMAN;.	D	374;193;343;343;374;374;343	ENSP00000333539:E374D;ENSP00000438319:E343D;ENSP00000450479:E343D;ENSP00000379589:E374D;ENSP00000444254:E374D;ENSP00000442529:E343D	ENSP00000333539:E374D	E	+	3	2	MIPOL1	37038954	1.000000	0.71417	0.985000	0.45067	0.270000	0.26580	3.451000	0.52964	0.297000	0.22615	-0.150000	0.13652	GAG		0.348	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731		5	101	0	0	0	0.001168	0	5	101		
PSMC6	5706	broad.mit.edu	37	14	53187697	53187697	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:53187697T>G	ENST00000606149.1	+	11	912	c.896T>G	c.(895-897)aTa>aGa	p.I299R	PSMC6_ENST00000445930.2_Missense_Mutation_p.I313R	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GATAGAAAAATACGTGAGTTA	0.368																																						uc010tqx.1		NaN																	0				lung(1)	1						c.(937-939)ATA>AGA		proteasome 26S ATPase subunit 6							100.0	104.0	103.0					14																	53187697		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53187697T>G		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.896T>G	14.37:g.53187697T>G	ENSP00000475721:p.Ile299Arg					PSMC6_uc001wzy.2_5'Flank	p.I313R	NM_002806	NP_002797	P62333	PRS10_HUMAN			11	938	+	Breast(41;0.176)		299					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.938T>G		.	.	.	.	.	.	.	.	.	.	T	25.1	4.599962	0.87055	.	.	ENSG00000100519	ENST00000445930	D	0.96104	-3.91	4.93	4.93	0.64822	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99395	1.0926	10	0.87932	D	0	.	14.8629	0.70394	0.0:0.0:0.0:1.0	.	299	P62333	PRS10_HUMAN	R	313	ENSP00000401802:I313R	ENSP00000401802:I313R	I	+	2	0	PSMC6	52257447	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.697000	0.84279	1.959000	0.56917	0.477000	0.44152	ATA		0.368	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1		NM_002806		10	192	0	0	0	0.001855	0	10	192		
WDHD1	11169	broad.mit.edu	37	14	55429799	55429799	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:55429799G>C	ENST00000360586.3	-	19	2467	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	WDHD1_ENST00000421192.1_Missense_Mutation_p.S678C|WDHD1_ENST00000420358.2_Missense_Mutation_p.S678C|WDHD1_ENST00000359167.4_Missense_Mutation_p.S319C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	801					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCGAGAGCGAGAAGCATATTT	0.418																																						uc001xbm.1		NaN																	0				skin(1)	1						c.(2401-2403)TCT>TGT		WD repeat and HMG-box DNA binding protein 1							66.0	66.0	66.0					14																	55429799		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55429799G>C	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2402C>G	14.37:g.55429799G>C	ENSP00000353793:p.Ser801Cys					WDHD1_uc010aom.1_Missense_Mutation_p.S318C|WDHD1_uc001xbn.1_Missense_Mutation_p.S678C	p.S801C	NM_007086	NP_009017	O75717	WDHD1_HUMAN			19	2480	-			801					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2402C>G	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501591	0.85176	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.65364	0.22;0.69;-0.15	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80460	0.4627	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.974	T	0.82764	-0.0296	10	0.72032	D	0.01	.	18.8498	0.92224	0.0:0.0:1.0:0.0	.	319;801	F8W7P7;O75717	.;WDHD1_HUMAN	C	801;319;678	ENSP00000353793:S801C;ENSP00000352085:S319C;ENSP00000391049:S678C	ENSP00000352085:S319C	S	-	2	0	WDHD1	54499549	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.103000	0.94232	2.466000	0.83321	0.462000	0.41574	TCT		0.418	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2		NM_007086		6	73	0	0	0	0.001984	0	6	73		
KTN1	3895	broad.mit.edu	37	14	56122763	56122763	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:56122763G>A	ENST00000395314.3	+	29	2873	c.2805G>A	c.(2803-2805)ttG>ttA	p.L935L	KTN1_ENST00000395311.1_Silent_p.L912L|KTN1_ENST00000438792.2_Silent_p.L935L|KTN1_ENST00000416613.1_Silent_p.L935L|KTN1_ENST00000395309.3_Silent_p.L935L|KTN1_ENST00000395308.1_Silent_p.L912L|KTN1_ENST00000413890.2_Silent_p.L912L|KTN1_ENST00000554507.1_Silent_p.L230L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	935					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATTCTAGGTTGAAAGAAAAGG	0.348			T	RET	papillary thryoid																																	uc001xcb.2		NaN		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(2803-2805)TTG>TTA		kinectin 1 isoform a							50.0	53.0	52.0					14																	56122763		2203	4299	6502	SO:0001819	synonymous_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56122763G>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2805G>A	14.37:g.56122763G>A						KTN1_uc001xce.2_Silent_p.L935L|KTN1_uc001xcc.2_Silent_p.L935L|KTN1_uc001xcd.2_Silent_p.L912L|KTN1_uc010trb.1_Silent_p.L935L|KTN1_uc001xcf.1_Silent_p.L912L|KTN1_uc010aoq.2_Silent_p.L230L	p.L935L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			30	3107	+			935			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.2805G>A	CCDS41957.1																																																																																				0.348	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2				4	21	0	0	0	0.000602	0	4	21		
RTN1	6252	broad.mit.edu	37	14	60213112	60213112	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:60213112G>C	ENST00000267484.5	-	2	664	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	110					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAGATGTCAGAAATGAGAGA	0.458																																						uc001xen.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(328-330)TCT>TGT		reticulon 1 isoform A							88.0	65.0	73.0					14																	60213112		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60213112G>C	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.329C>G	14.37:g.60213112G>C	ENSP00000267484:p.Ser110Cys						p.S110C	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	538	-			110					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.329C>G	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733102	0.48939	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.41065	1.01	5.4	5.4	0.78164	.	0.190105	0.46145	D	0.000309	T	0.66713	0.2817	M	0.76328	2.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.69518	-0.5124	10	0.87932	D	0	.	19.5254	0.95203	0.0:0.0:1.0:0.0	.	110	Q16799	RTN1_HUMAN	C	110;36	ENSP00000267484:S110C	ENSP00000267484:S110C	S	-	2	0	RTN1	59282865	1.000000	0.71417	0.961000	0.40146	0.137000	0.21094	6.618000	0.74214	2.690000	0.91761	0.557000	0.71058	TCT		0.458	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2				6	57	0	0	0	0.001984	0	6	57		
NEK9	91754	broad.mit.edu	37	14	75590902	75590902	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:75590902C>T	ENST00000238616.5	-	2	402	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	RP11-950C14.7_ENST00000556236.1_RNA	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AAATCGACTTCCTTCCACACA	0.473																																						uc001xrl.2		NaN																	0				lung(2)|stomach(2)|ovary(1)	5						c.(244-246)GAA>AAA		NIMA-related kinase 9							147.0	110.0	123.0					14																	75590902		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75590902C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.244G>A	14.37:g.75590902C>T	ENSP00000238616:p.Glu82Lys						p.E82K	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	2	398	-			82			Protein kinase.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.244G>A	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	36	5.895516	0.97074	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	T	0.22539	1.95	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	N	0.04820	-0.15	0.80722	D	1	P	0.46952	0.887	P	0.54060	0.741	T	0.18745	-1.0327	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	82	Q8TD19	NEK9_HUMAN	K	82;64	ENSP00000238616:E82K	ENSP00000238616:E82K	E	-	1	0	NEK9	74660655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.473	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1		NM_033116		6	60	0	0	0	0.001984	0	6	60		
SERPINA11	256394	broad.mit.edu	37	14	94914814	94914814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:94914814G>T	ENST00000334708.3	-	2	362	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	100					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGGCCCTCCAGGATCAGAGCT	0.617																																						uc001ydd.1		NaN																	0				kidney(1)	1						c.(298-300)CTG>ATG		serpin peptidase inhibitor, clade A (alpha-1							79.0	82.0	81.0					14																	94914814		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914814G>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.298C>A	14.37:g.94914814G>T	ENSP00000335024:p.Leu100Met						p.L100M	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	358	-			100					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.298C>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930710	0.52866	.	.	ENSG00000186910	ENST00000334708	D	0.85171	-1.95	4.85	2.98	0.34508	Serpin domain (3);	0.149916	0.31427	N	0.007664	D	0.88815	0.6539	M	0.67625	2.065	0.28569	N	0.910746	D	0.76494	0.999	D	0.83275	0.996	T	0.80946	-0.1155	10	0.66056	D	0.02	.	5.2375	0.15454	0.2707:0.0:0.5844:0.1449	.	100	Q86U17	SPA11_HUMAN	M	100	ENSP00000335024:L100M	ENSP00000335024:L100M	L	-	1	2	SERPINA11	93984567	0.006000	0.16342	0.999000	0.59377	0.835000	0.47333	1.232000	0.32636	1.265000	0.44215	0.655000	0.94253	CTG		0.617	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1		NM_001080451		9	77	1	0	0.000442599	0.006214	0.000457261	9	77		
PAPOLA	10914	broad.mit.edu	37	14	97003351	97003351	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:97003351G>A	ENST00000216277.8	+	12	1289	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E357K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	357					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAGTAAGGCAGAGTGGTCCAA	0.313																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NaN																	0					0						c.(1069-1071)GAG>AAG		poly(A) polymerase alpha							96.0	92.0	93.0					14																	97003351		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97003351G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1069G>A	14.37:g.97003351G>A	ENSP00000216277:p.Glu357Lys					PAPOLA_uc001yfr.2_Missense_Mutation_p.E357K|PAPOLA_uc010twv.1_Missense_Mutation_p.E357K|PAPOLA_uc010avp.2_Missense_Mutation_p.E107K	p.E357K	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	12	1279	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	357					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1069G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555277	0.65425	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.01	5.01	0.66863	Poly(A) polymerase, central domain (1);	0.109676	0.64402	D	0.000011	T	0.42698	0.1214	N	0.14661	0.345	0.80722	D	1	B;B;B	0.17465	0.01;0.022;0.013	B;B;B	0.16289	0.009;0.015;0.015	T	0.22906	-1.0203	9	0.23302	T	0.38	.	18.6891	0.91576	0.0:0.0:1.0:0.0	.	373;373;357	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	K	357;373;357;107	.	ENSP00000216277:E357K	E	+	1	0	PAPOLA	96073104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.889000	0.87307	2.473000	0.83533	0.650000	0.86243	GAG		0.313	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2				5	51	0	0	0	0.001984	0	5	51		
C14orf177	283598	broad.mit.edu	37	14	99183486	99183486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:99183486G>T	ENST00000325812.2	+	4	672	c.253G>T	c.(253-255)Gaa>Taa	p.E85*		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	85										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CCAGAGACATGAAGAAACTTC	0.453																																						uc001yfz.1		NaN																	0					0						c.(253-255)GAA>TAA		hypothetical protein LOC283598							124.0	104.0	111.0					14																	99183486		2203	4300	6503	SO:0001587	stop_gained	283598							g.chr14:99183486G>T	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.253G>T	14.37:g.99183486G>T	ENSP00000321360:p.Glu85*						p.E85*	NM_182560	NP_872366	Q52M58	CN177_HUMAN			4	672	+		Melanoma(154;0.128)	85					Q8N7D2	Nonsense_Mutation	SNP	ENST00000325812.2	37	c.253G>T	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129739	0.56721	.	.	ENSG00000176605	ENST00000325812	.	.	.	2.83	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.50039	D	0.999844	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.5972	0.08010	0.5206:0.0:0.2898:0.1895	.	.	.	.	X	85	.	ENSP00000321360:E85X	E	+	1	0	C14orf177	98253239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.708000	0.05015	-0.825000	0.03093	GAA		0.453	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1		NM_182560		5	70	1	0	1.06961e-07	0.00308	1.1503e-07	5	70		
EXOC3L4	91828	broad.mit.edu	37	14	103574805	103574805	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:103574805G>T	ENST00000380069.3	+	10	2003	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	643					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTACAAAGATGACATCCAGCG	0.602																																						uc001ymk.2		NaN																	0					0						c.(1927-1929)GAC>TAC		hypothetical protein LOC91828							205.0	180.0	188.0					14																	103574805		2203	4300	6503	SO:0001583	missense	91828							g.chr14:103574805G>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1927G>T	14.37:g.103574805G>T	ENSP00000369409:p.Asp643Tyr						p.D643Y	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Epithelial(46;0.221)		10	2003	+		Melanoma(154;0.155)	643					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.1927G>T	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822205	0.32237	.	.	ENSG00000205436	ENST00000380069	T	0.07567	3.18	4.14	2.25	0.28309	.	0.505810	0.18587	N	0.136845	T	0.19287	0.0463	L	0.60455	1.87	0.42367	D	0.992439	D	0.89917	1.0	D	0.74348	0.983	T	0.01334	-1.1382	10	0.72032	D	0.01	-23.0508	5.4061	0.16323	0.1125:0.2057:0.6818:0.0	.	643	Q17RC7	EX3L4_HUMAN	Y	643	ENSP00000369409:D643Y	ENSP00000369409:D643Y	D	+	1	0	EXOC3L4	102644558	0.327000	0.24678	0.635000	0.29338	0.263000	0.26337	0.318000	0.19504	0.377000	0.24735	0.462000	0.41574	GAC		0.602	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1		XM_941093		21	315	1	0	7.41877e-09	0.001882	8.0303e-09	21	315		
HERC2	8924	broad.mit.edu	37	15	28408392	28408392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:28408392G>A	ENST00000261609.7	-	69	10702	c.10594C>T	c.(10594-10596)Cag>Tag	p.Q3532*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCAAGGCCTGAGGCTCCGGA	0.502																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(10594-10596)CAG>TAG		hect domain and RLD 2							117.0	107.0	110.0					15																	28408392		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28408392G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10594C>T	15.37:g.28408392G>A	ENSP00000261609:p.Gln3532*						p.Q3532*	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	69	10700	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3532						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.10594C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	52	19.434616	0.99919	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.16	4.24	0.50183	.	0.063927	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	16.0294	0.80567	0.0:0.1347:0.8653:0.0	.	.	.	.	X	3532	.	ENSP00000261609:Q3532X	Q	-	1	0	HERC2	26081987	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	6.580000	0.74040	1.278000	0.44430	0.655000	0.94253	CAG		0.502	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		7	108	0	0	0	0.00308	0	7	108		
KNSTRN	90417	broad.mit.edu	37	15	40675233	40675233	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:40675233G>A	ENST00000249776.8	+	1	312	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	KNSTRN_ENST00000448395.2_Missense_Mutation_p.R66Q|KNSTRN_ENST00000416151.2_Missense_Mutation_p.R66Q|KNSTRN_ENST00000608100.1_5'UTR	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GGGCAGGACCGGCGGGCTCCT	0.592																																						uc001zll.2		NaN																	0				ovary(1)|skin(1)	2						c.(196-198)CGG>CAG		TRAF4 associated factor 1 isoform a							43.0	50.0	48.0					15																	40675233		1844	4063	5907	SO:0001583	missense	90417					nucleus	protein binding	g.chr15:40675233G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.197G>A	15.37:g.40675233G>A	ENSP00000249776:p.Arg66Gln					C15orf23_uc010ucp.1_Missense_Mutation_p.R66Q|C15orf23_uc001zlo.2_Missense_Mutation_p.R66Q|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.R66Q	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	1	312	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	66						Missense_Mutation	SNP	ENST00000249776.8	37	c.197G>A	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382155	0.24944	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.26067	1.76;1.76;1.76	5.11	-10.2	0.00374	.	1.478860	0.03931	N	0.285330	T	0.07007	0.0178	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.23891	0.038;0.093;0.093	B;B;B	0.10450	0.003;0.005;0.005	T	0.17018	-1.0383	10	0.10636	T	0.68	-3.5254	1.8069	0.03082	0.4503:0.0815:0.1434:0.3248	.	66;66;66	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	Q	66	ENSP00000249776:R66Q;ENSP00000391233:R66Q;ENSP00000393001:R66Q	ENSP00000249776:R66Q	R	+	2	0	C15orf23	38462525	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.237000	0.02922	-2.607000	0.00447	-0.258000	0.10820	CGG		0.592	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1		NM_001142761		10	136	0	0	0	0.008291	0	10	136		
SNAP23	8773	broad.mit.edu	37	15	42821985	42821985	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:42821985C>G	ENST00000249647.3	+	7	1006	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000397138.1_Missense_Mutation_p.Q127E|SNAP23_ENST00000349777.1_Missense_Mutation_p.Q127E|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	180	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GATTGATGCTCAAAATCCACA	0.403																																						uc001zpz.1		NaN																	0					0						c.(538-540)CAA>GAA		synaptosomal-associated protein 23 isoform							105.0	98.0	100.0					15																	42821985		2203	4299	6502	SO:0001583	missense	8773				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding	g.chr15:42821985C>G	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.538C>G	15.37:g.42821985C>G	ENSP00000249647:p.Gln180Glu					SNAP23_uc001zqa.1_Missense_Mutation_p.Q127E	p.Q180E	NM_003825	NP_003816	O00161	SNP23_HUMAN		GBM - Glioblastoma multiforme(94;2.62e-06)	7	629	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	180			t-SNARE coiled-coil homology 2.		O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	ENST00000249647.3	37	c.538C>G	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983116	0.74474	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	5.64	0.86602	Target SNARE coiled-coil domain (3);	0.104573	0.64402	D	0.000002	D	0.86343	0.5910	M	0.92649	3.33	0.80722	D	1	P;D	0.69078	0.76;0.997	P;D	0.68765	0.547;0.96	D	0.88893	0.3347	9	0.87932	D	0	-7.4973	19.6503	0.95798	0.0:1.0:0.0:0.0	.	127;180	O00161-2;O00161	.;SNP23_HUMAN	E	180;127;127	.	ENSP00000249647:Q180E	Q	+	1	0	SNAP23	40609277	1.000000	0.71417	0.997000	0.53966	0.338000	0.28826	7.457000	0.80775	2.803000	0.96430	0.655000	0.94253	CAA		0.403	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4		NM_003825		5	72	0	0	0	0.000602	0	5	72		
DMXL2	23312	broad.mit.edu	37	15	51772766	51772766	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:51772766G>C	ENST00000251076.5	-	24	6824	c.6537C>G	c.(6535-6537)ctC>ctG	p.L2179L	DMXL2_ENST00000543779.2_Silent_p.L2179L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L1543L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2179						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAAAAATTTGAGTTCCATCC	0.393																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(6535-6537)CTC>CTG		Dmx-like 2							91.0	94.0	93.0					15																	51772766		2196	4293	6489	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772766G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6537C>G	15.37:g.51772766G>C						DMXL2_uc002abd.2_Silent_p.L249L|DMXL2_uc010ufy.1_Silent_p.L2179L|DMXL2_uc010bfa.2_Silent_p.L1543L	p.L2179L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6762	-			2179					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.6537C>G	CCDS10141.1																																																																																				0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		6	64	0	0	0	0.00308	0	6	64		
TRIP4	9325	broad.mit.edu	37	15	64689913	64689913	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:64689913G>A	ENST00000261884.3	+	4	574	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RN7SL595P_ENST00000582065.1_RNA|TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	172					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TCACCCTTGTGATTGCCTGGG	0.498																																						uc002anm.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(514-516)GAT>AAT		thyroid hormone receptor interactor 4							111.0	98.0	102.0					15																	64689913		2203	4300	6503	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64689913G>A	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.514G>A	15.37:g.64689913G>A	ENSP00000261884:p.Asp172Asn						p.D172N	NM_016213	NP_057297	Q15650	TRIP4_HUMAN			4	557	+			172			C4-type.		B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.514G>A	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663149	0.96745	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.27	5.27	0.74061	Zinc finger, C2HC5-type (1);	0.142736	0.64402	D	0.000007	T	0.45558	0.1348	N	0.15975	0.35	0.58432	D	0.999997	P	0.48998	0.918	P	0.52386	0.697	T	0.28902	-1.0029	9	0.02654	T	1	-22.4001	19.2598	0.93962	0.0:0.0:1.0:0.0	.	172	Q15650	TRIP4_HUMAN	N	172	.	ENSP00000261884:D172N	D	+	1	0	TRIP4	62476966	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.386000	0.97228	2.614000	0.88457	0.563000	0.77884	GAT		0.498	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2		NM_016213		6	84	0	0	0	0.001168	0	6	84		
SMAD6	4091	broad.mit.edu	37	15	67073574	67073574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:67073574G>A	ENST00000288840.5	+	4	2223	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	SMAD6_ENST00000338426.4_Missense_Mutation_p.D137N	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	398	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CAAGGAGCCCGACGGCGTGTG	0.711																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	uc002aqf.2		NaN																	0				skin(1)	1						c.(1192-1194)GAC>AAC		SMAD family member 6 isoform 1							23.0	25.0	24.0					15																	67073574		2200	4293	6493	SO:0001583	missense	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073574G>A	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1192G>A	15.37:g.67073574G>A	ENSP00000288840:p.Asp398Asn					SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.D137N	p.D398N	NM_005585	NP_005576	O43541	SMAD6_HUMAN			4	2115	+			398			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	c.1192G>A	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491730	0.96339	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.98937	-5.25;-5.25	5.62	5.62	0.85841	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.99643	1.0989	10	0.59425	D	0.04	.	19.6501	0.95796	0.0:0.0:1.0:0.0	.	137;398	O43541-2;O43541	.;SMAD6_HUMAN	N	398;137	ENSP00000288840:D398N;ENSP00000345054:D137N	ENSP00000288840:D398N	D	+	1	0	SMAD6	64860628	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.742000	0.98846	2.651000	0.90000	0.491000	0.48974	GAC		0.711	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2		NM_005585		5	36	0	0	0	0.00308	0	5	36		
UACA	55075	broad.mit.edu	37	15	70959792	70959792	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:70959792C>G	ENST00000322954.6	-	16	3416	c.3231G>C	c.(3229-3231)caG>caC	p.Q1077H	UACA_ENST00000539319.1_Missense_Mutation_p.Q968H|UACA_ENST00000560441.1_Missense_Mutation_p.Q1062H|UACA_ENST00000379983.2_Missense_Mutation_p.Q1064H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1077					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCGTGTATTTCTGTGACAAGT	0.358																																						uc002asr.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3229-3231)CAG>CAC		uveal autoantigen with coiled-coil domains and							105.0	97.0	100.0					15																	70959792		2198	4296	6494	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959792C>G	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3231G>C	15.37:g.70959792C>G	ENSP00000314556:p.Gln1077His					UACA_uc010uke.1_Missense_Mutation_p.Q968H|UACA_uc002asq.2_Missense_Mutation_p.Q1064H|UACA_uc010bin.1_Missense_Mutation_p.Q1052H	p.Q1077H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	3335	-			1077			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3231G>C	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307328	0.40795	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.43294	0.95;0.95;1.43	5.95	4.04	0.47022	.	0.538632	0.18179	N	0.149211	T	0.54382	0.1855	M	0.72894	2.215	0.54753	D	0.99998	P;P;P;P	0.42123	0.54;0.736;0.661;0.771	B;B;B;P	0.50136	0.346;0.429;0.429;0.632	T	0.59899	-0.7367	10	0.72032	D	0.01	-10.736	13.4035	0.60898	0.0:0.8695:0.0:0.1305	.	968;1077;1077;1064	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	H	1077;1064;968	ENSP00000314556:Q1077H;ENSP00000369319:Q1064H;ENSP00000438667:Q968H	ENSP00000314556:Q1077H	Q	-	3	2	UACA	68746846	0.999000	0.42202	0.742000	0.31022	0.156000	0.22039	0.745000	0.26259	1.495000	0.48549	0.655000	0.94253	CAG		0.358	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2				7	51	0	0	0	0.001984	0	7	51		
AGBL1	123624	broad.mit.edu	37	15	86814885	86814885	+	Missense_Mutation	SNP	C	C	G	rs147544569		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:86814885C>G	ENST00000441037.2	+	14	1980	c.1885C>G	c.(1885-1887)Ctt>Gtt	p.L629V	AGBL1_ENST00000421325.2_Missense_Mutation_p.L629V|AGBL1_ENST00000389298.3_Missense_Mutation_p.L360V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	629					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAGGAGGCTCTTCTTGGCAA	0.423																																						uc002blz.1		NaN																	0					0						c.(1885-1887)CTT>GTT		ATP/GTP binding protein-like 1							169.0	163.0	164.0					15																	86814885		1868	4091	5959	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86814885C>G	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1885C>G	15.37:g.86814885C>G	ENSP00000413001:p.Leu629Val					AGBL1_uc002bma.1_Missense_Mutation_p.L360V|AGBL1_uc002bmb.1_Missense_Mutation_p.L323V	p.L629V	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			14	1965	+			629					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1885C>G	CCDS58398.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	13.77	2.335300	0.41398	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10477	2.88;2.87	5.21	3.34	0.38264	.	0.415604	0.23752	N	0.044901	T	0.10723	0.0262	L	0.35542	1.07	0.24468	N	0.994402	P;P;P	0.45531	0.86;0.86;0.78	P;P;B	0.47044	0.535;0.535;0.192	T	0.10268	-1.0637	10	0.42905	T	0.14	-8.4367	6.7135	0.23290	0.0:0.6985:0.1472:0.1543	.	328;360;629	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	V	658;629;360	ENSP00000397173:L629V;ENSP00000373949:L360V	ENSP00000373949:L360V	L	+	1	0	AGBL1	84615889	0.977000	0.34250	0.854000	0.33618	0.955000	0.61496	2.313000	0.43735	0.715000	0.32103	-0.133000	0.14855	CTT		0.423	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336		10	125	0	0	0	0.003163	0	10	125		
ACAN	176	broad.mit.edu	37	15	89403660	89403660	+	Silent	SNP	C	C	T	rs370515602		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:89403660C>T	ENST00000561243.1	+	12	6936	c.6936C>T	c.(6934-6936)caC>caT	p.H2312H	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Silent_p.H2312H|ACAN_ENST00000559004.1_Intron			P16112	PGCA_HUMAN	aggrecan	2197	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGCGAGCACTGTAACATAG	0.627																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(6934-6936)CAC>CAT		aggrecan isoform 2 precursor							39.0	43.0	42.0					15																	89403660		2053	4181	6234	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89403660C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6936C>T	15.37:g.89403660C>T						ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron	p.H2312H	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		13	7310	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2312					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6936C>T	CCDS53970.1																																																																																				0.627	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		3	31	0	0	0	0.000602	0	3	31		
MFGE8	4240	broad.mit.edu	37	15	89442994	89442994	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:89442994C>A	ENST00000566497.1	-	7	980	c.919G>T	c.(919-921)Gcc>Tcc	p.A307S	MFGE8_ENST00000539437.1_Missense_Mutation_p.A299S|MFGE8_ENST00000268150.8_Missense_Mutation_p.A307S|MFGE8_ENST00000268151.7_Intron|MFGE8_ENST00000542878.1_Missense_Mutation_p.A263S			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	307	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAGTTACGGGCCCCCTGGGTG	0.542																																						uc002bng.3		NaN																	0				ovary(1)	1						c.(919-921)GCC>TCC		milk fat globule-EGF factor 8 protein isoform a							78.0	64.0	69.0					15																	89442994		2200	4299	6499	SO:0001583	missense	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89442994C>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.919G>T	15.37:g.89442994C>A	ENSP00000456281:p.Ala307Ser					MFGE8_uc002bnf.3_Missense_Mutation_p.A195S|MFGE8_uc002bnh.3_Intron|MFGE8_uc010bnn.2_Missense_Mutation_p.A299S|MFGE8_uc010upq.1_Missense_Mutation_p.A263S|MFGE8_uc010upr.1_Missense_Mutation_p.A307S	p.A307S	NM_005928	NP_005919	Q08431	MFGM_HUMAN			7	1032	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		307			F5/8 type C 2.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	c.919G>T	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742638	0.89573	.	.	ENSG00000140545	ENST00000268150;ENST00000539437;ENST00000542878	D;D;D	0.98264	-4.83;-4.83;-4.83	5.03	5.03	0.67393	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;0.997;1.0	D	0.99537	1.0962	10	0.52906	T	0.07	-36.9176	16.9908	0.86353	0.0:1.0:0.0:0.0	.	299;263;299;307	B3KTQ2;F5GZN3;F5H7N9;Q08431	.;.;.;MFGM_HUMAN	S	307;299;263	ENSP00000268150:A307S;ENSP00000442386:A299S;ENSP00000444332:A263S	ENSP00000268150:A307S	A	-	1	0	MFGE8	87243998	1.000000	0.71417	0.993000	0.49108	0.810000	0.45777	7.609000	0.82925	2.368000	0.80403	0.485000	0.47835	GCC		0.542	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1		NM_005928		7	50	1	0	8.12818e-05	0.001984	8.50307e-05	7	50		
KIF7	374654	broad.mit.edu	37	15	90189215	90189215	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:90189215C>T	ENST00000394412.3	-	8	1907	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	611	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGTTCACCTCAGTCAGCAAC	0.592																																						uc002bof.2		NaN																	0				ovary(2)|lung(1)	3						c.(1831-1833)GAG>AAG		kinesin family member 7							176.0	148.0	157.0					15																	90189215		2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90189215C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1831G>A	15.37:g.90189215C>T	ENSP00000377934:p.Glu611Lys					KIF7_uc010upw.1_Missense_Mutation_p.E98K	p.E611K	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		8	1908	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		611					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.1831G>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	11.41	1.629390	0.28978	.	.	ENSG00000166813	ENST00000394412	T	0.69926	-0.44	3.43	1.34	0.21922	.	0.976863	0.08435	N	0.946353	T	0.47192	0.1432	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.07482	T	0.82	.	5.3857	0.16216	0.0:0.6553:0.216:0.1287	.	98;611	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	611	ENSP00000377934:E611K	ENSP00000377934:E611K	E	-	1	0	KIF7	87990219	0.000000	0.05858	0.002000	0.10522	0.751000	0.42716	0.044000	0.13992	0.193000	0.20303	0.457000	0.33378	GAG		0.592	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1		NM_198525		13	160	0	0	0	0.00499	0	13	160		
BLM	641	broad.mit.edu	37	15	91333991	91333991	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:91333991G>C	ENST00000355112.3	+	15	3054	c.2936G>C	c.(2935-2937)aGa>aCa	p.R979T	BLM_ENST00000560509.1_Missense_Mutation_p.R979T|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	979	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATCTGGCAGAGCTGGAAGA	0.438			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NaN	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(2935-2937)AGA>ACA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							135.0	127.0	129.0					15																	91333991		2198	4298	6496	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91333991G>C	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2936G>C	15.37:g.91333991G>C	ENSP00000347232:p.Arg979Thr					BLM_uc010uqh.1_Missense_Mutation_p.R979T|BLM_uc010uqi.1_Missense_Mutation_p.R604T|BLM_uc010bnx.2_Missense_Mutation_p.R979T|BLM_uc002bps.1_Missense_Mutation_p.R541T	p.R979T	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		15	3033	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		979			Helicase C-terminal.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2936G>C	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856062	0.91355	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	D	0.99143	-5.48	5.43	5.43	0.79202	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.99965	5.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96723	0.9534	10	0.87932	D	0	-9.8963	16.7303	0.85433	0.0:0.0:1.0:0.0	.	979;604;979	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	T	979;609;166	ENSP00000347232:R979T	ENSP00000347232:R979T	R	+	2	0	BLM	89134995	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.782000	0.99034	2.536000	0.85505	0.585000	0.79938	AGA		0.438	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1				9	105	0	0	0	0.004482	0	9	105		
SV2B	9899	broad.mit.edu	37	15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T	rs201612018		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587																																						uc002bqv.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(223-225)CGG>TGG		synaptic vesicle protein 2B homolog							81.0	73.0	76.0					15																	91769716		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769716C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.223C>T	15.37:g.91769716C>T	ENSP00000377779:p.Arg75Trp					SV2B_uc002bqt.2_Missense_Mutation_p.R75W|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	p.R75W	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		1	614	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		75			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.223C>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660853	0.29515	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.34275	1.37;1.37	5.17	3.03	0.35002	.	0.494275	0.21813	N	0.068737	T	0.26666	0.0652	L	0.40543	1.245	0.09310	N	0.999998	B	0.28636	0.218	B	0.20955	0.032	T	0.23511	-1.0186	10	0.72032	D	0.01	-4.8829	9.0413	0.36319	0.2521:0.632:0.116:0.0	.	75	Q7L1I2	SV2B_HUMAN	W	75	ENSP00000377779:R75W;ENSP00000332818:R75W	ENSP00000332818:R75W	R	+	1	2	SV2B	89570720	1.000000	0.71417	0.128000	0.21923	0.061000	0.15899	1.513000	0.35823	1.147000	0.42369	0.563000	0.77884	CGG		0.587	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3		NM_014848		4	32	0	0	0	0.001168	0	4	32		
ITFG3	83986	broad.mit.edu	37	16	312519	312520	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:312519_312520TC>CT	ENST00000399932.3	+	8	1389_1390	c.938_939TC>CT	c.(937-939)cTC>cCT	p.L313P	ITFG3_ENST00000450082.2_Missense_Mutation_p.L313P|ITFG3_ENST00000600536.1_Missense_Mutation_p.L313P|ITFG3_ENST00000301678.3_Missense_Mutation_p.L313P|ITFG3_ENST00000442458.2_Missense_Mutation_p.L313P|ITFG3_ENST00000301679.2_Missense_Mutation_p.L313P	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GAGAGCATGCTCAATGCCACCA	0.649																																						uc002cgf.2		NaN																	0				central_nervous_system(1)	1						c.(937-939)CTC>CCT		integrin alpha FG-GAP repeat containing 3																																				SO:0001583	missense	83986					integral to membrane		g.chr16:312519_312520TC>CT	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	Exception_encountered	16.37:g.312519_312520delinsCT	ENSP00000382814:p.Leu313Pro					ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Missense_Mutation_p.L313P|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.L313P	p.L313P	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			8	1133_1134	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	313			Extracellular (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	DNP	ENST00000399932.3	37	c.938_939TC>CT	CCDS10402.1																																																																																				0.649	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2		NM_032039		11	88	0	0	0	0.004672	0	11	88		
UNKL	64718	broad.mit.edu	37	16	1417786	1417786	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:1417786C>G	ENST00000389221.4	-	13	1649	c.1650G>C	c.(1648-1650)ctG>ctC	p.L550L	UNKL_ENST00000403703.1_Silent_p.L52L|UNKL_ENST00000391893.2_Silent_p.L49L|UNKL_ENST00000402641.2_Silent_p.L52L|UNKL_ENST00000248104.7_Silent_p.L49L|UNKL_ENST00000508903.2_Silent_p.L553L|UNKL_ENST00000397464.1_Silent_p.L52L	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	550	Ser-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGCCGGCACTCAGGATGGGGG	0.642																																						uc010brn.1		NaN																	0					0						c.(778-780)CTG>CTC		SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;							8.0	9.0	9.0					16																	1417786		2175	4261	6436	SO:0001819	synonymous_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1417786C>G	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1650G>C	16.37:g.1417786C>G						UNKL_uc002cln.2_Silent_p.L52L|UNKL_uc002clo.2_Silent_p.L49L|UNKL_uc002clp.2_Silent_p.L52L	p.L260L			Q9H9P5	UNKL_HUMAN			7	798	-		Hepatocellular(780;0.0893)	550			Ser-rich.		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	ENST00000389221.4	37	c.780G>C	CCDS53981.1																																																																																				0.642	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001037125		3	9	0	0	0	0.004672	0	3	9		
TBC1D24	57465	broad.mit.edu	37	16	2546157	2546157	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:2546157C>G	ENST00000293970.5	+	2	141	c.8C>G	c.(7-9)tCt>tGt	p.S3C	TBC1D24_ENST00000434757.2_Missense_Mutation_p.S3C|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.S3C|TBC1D24_ENST00000567020.1_Missense_Mutation_p.S3C	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	3					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCTATGGACTCTCCAGGATAC	0.597																																						uc002cql.2		NaN																	0					0						c.(7-9)TCT>TGT		TBC1 domain family, member 24							75.0	86.0	82.0					16																	2546157		2081	4211	6292	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546157C>G	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.8C>G	16.37:g.2546157C>G	ENSP00000293970:p.Ser3Cys					TBC1D24_uc002cqk.2_Missense_Mutation_p.S3C|TBC1D24_uc002cqm.2_Missense_Mutation_p.S3C|TBC1D24_uc010bsm.2_5'Flank	p.S3C	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	148	+			3					A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.8C>G	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813336	0.32053	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.24350	1.86;1.86	5.38	3.3	0.37823	.	0.863030	0.10674	N	0.647238	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B;B;B	0.29590	0.198;0.198;0.25	B;B;B	0.35688	0.137;0.137;0.208	T	0.22695	-1.0209	10	0.72032	D	0.01	-26.291	6.1018	0.20051	0.2904:0.6197:0.0:0.09	.	3;3;3	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	C	3	ENSP00000293970:S3C;ENSP00000390106:S3C	ENSP00000293970:S3C	S	+	2	0	TBC1D24	2486158	0.000000	0.05858	0.848000	0.33437	0.088000	0.18126	0.170000	0.16663	1.424000	0.47217	0.549000	0.68633	TCT		0.597	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1		NM_020705		16	109	0	0	0	0.004656	0	16	109		
NMRAL1	57407	broad.mit.edu	37	16	4511851	4511851	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:4511851C>T	ENST00000574733.1	-	6	1559	c.830G>A	c.(829-831)aGa>aAa	p.R277K	NMRAL1_ENST00000572391.1_5'Flank|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R277K|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R277K|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R277K			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	277						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGGGTTGAGTCTCAGGGTCAG	0.617																																						uc002cwm.2		NaN																	0				kidney(1)	1						c.(829-831)AGA>AAA		NmrA-like family domain containing 1							136.0	131.0	132.0					16																	4511851		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4511851C>T	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.830G>A	16.37:g.4511851C>T	ENSP00000458762:p.Arg277Lys					NMRAL1_uc002cwn.2_Missense_Mutation_p.R277K|NMRAL1_uc002cwo.2_Missense_Mutation_p.R277K|NMRAL1_uc002cwp.2_Missense_Mutation_p.R313K	p.R277K	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN			6	986	-			277						Missense_Mutation	SNP	ENST00000574733.1	37	c.830G>A	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	C	3.085	-0.188207	0.06299	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.29397	1.57;1.57	5.6	-0.324	0.12706	.	0.338132	0.31685	N	0.007234	T	0.07999	0.0200	N	0.01771	-0.73	0.28740	N	0.901996	B	0.02656	0.0	B	0.01281	0.0	T	0.39820	-0.9595	10	0.02654	T	1	-7.6037	7.5053	0.27540	0.0:0.3767:0.0:0.6233	.	277	Q9HBL8	NMRL1_HUMAN	K	277	ENSP00000283429:R277K;ENSP00000383962:R277K	ENSP00000283429:R277K	R	-	2	0	NMRAL1	4451852	0.007000	0.16637	0.855000	0.33649	0.026000	0.11368	-0.065000	0.11617	0.071000	0.16664	-0.258000	0.10820	AGA		0.617	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1		NM_020677		12	232	0	0	0	0.001855	0	12	232		
CLEC16A	23274	broad.mit.edu	37	16	11137897	11137897	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:11137897G>A	ENST00000409790.1	+	16	2013	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	CLEC16A_ENST00000409552.3_Missense_Mutation_p.E577K|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCGAGAGAAGAAAGTGTTCA	0.443																																						uc002dao.2		NaN																	1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	ovary(1)|central_nervous_system(1)	2						c.(1783-1785)GAA>AAA		C-type lectin domain family 16, member A							101.0	98.0	99.0					16																	11137897		1977	4174	6151	SO:0001583	missense	23274							g.chr16:11137897G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1783G>A	16.37:g.11137897G>A	ENSP00000387122:p.Glu595Lys					CLEC16A_uc002dan.3_Missense_Mutation_p.E577K	p.E595K	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			16	2013	+			595						Missense_Mutation	SNP	ENST00000409790.1	37	c.1783G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034954	0.75617	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.46063	0.88	5.52	5.52	0.82312	.	0.090529	0.85682	D	0.000000	T	0.52980	0.1768	L	0.55834	1.745	0.80722	D	1	P;D	0.60575	0.935;0.988	B;P	0.56042	0.374;0.79	T	0.40776	-0.9545	10	0.24483	T	0.36	-19.6109	16.9679	0.86291	0.0:0.0:1.0:0.0	.	595;577	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	K	595;595;577	ENSP00000387122:E595K	ENSP00000386495:E577K	E	+	1	0	CLEC16A	11045398	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.210000	0.89753	2.601000	0.87937	0.650000	0.86243	GAA		0.443	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2		NM_015226		10	73	0	0	0	0.001368	0	10	73		
TXNDC11	51061	broad.mit.edu	37	16	11824584	11824584	+	Missense_Mutation	SNP	C	C	G	rs370616912		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:11824584C>G	ENST00000356957.3	-	4	723	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E206Q			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	206	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAAACTTCTCAATGTAAACA	0.343																																						uc010buu.1		NaN																	0					0						c.(616-618)GAG>CAG		thioredoxin domain containing 11							102.0	102.0	102.0					16																	11824584		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11824584C>G	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.616G>C	16.37:g.11824584C>G	ENSP00000349439:p.Glu206Gln					TXNDC11_uc002dbg.1_Missense_Mutation_p.E206Q	p.E206Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			4	678	-			206			Thioredoxin 1.		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.616G>C		.	.	.	.	.	.	.	.	.	.	C	16.11	3.031377	0.54790	.	.	ENSG00000153066	ENST00000356957;ENST00000283033;ENST00000436567	T;T	0.34472	1.36;1.36	5.11	5.11	0.69529	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.051246	0.85682	D	0.000000	T	0.42063	0.1186	L	0.34521	1.04	0.58432	D	0.999992	P;D	0.57899	0.647;0.981	B;P	0.52554	0.395;0.702	T	0.29518	-1.0009	10	0.56958	D	0.05	-16.6168	17.7107	0.88321	0.0:1.0:0.0:0.0	.	206;206	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	Q	206;206;149	ENSP00000349439:E206Q;ENSP00000283033:E206Q	ENSP00000283033:E206Q	E	-	1	0	TXNDC11	11732085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.662000	0.74426	2.646000	0.89796	0.591000	0.81541	GAG		0.343	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914		5	115	0	0	0	0.000602	0	5	115		
ABCC1	4363	broad.mit.edu	37	16	16219752	16219752	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:16219752C>T	ENST00000399410.3	+	26	3978	c.3803C>T	c.(3802-3804)tCa>tTa	p.S1268L	ABCC1_ENST00000345148.5_Missense_Mutation_p.S1268L|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1212L|ABCC1_ENST00000399408.2_Missense_Mutation_p.S1278L|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1209L|ABCC1_ENST00000349029.5_Missense_Mutation_p.S1153L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1268					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AAGGAGTATTCAGAGACTGAG	0.537																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(3802-3804)TCA>TTA		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						65.0	67.0	66.0					16																	16219752		1971	4160	6131	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16219752C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3803C>T	16.37:g.16219752C>T	ENSP00000382342:p.Ser1268Leu					ABCC1_uc010bvj.2_Missense_Mutation_p.S1209L|ABCC1_uc010bvk.2_Missense_Mutation_p.S1212L|ABCC1_uc010bvl.2_Missense_Mutation_p.S1268L|ABCC1_uc010bvm.2_Missense_Mutation_p.S1153L|ABCC1_uc002del.3_Missense_Mutation_p.S1162L	p.S1268L	NM_004996	NP_004987	P33527	MRP1_HUMAN			26	3978	+			1268			Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3803C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984426	0.35036	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.68	3.73	0.42828	ABC transporter, transmembrane domain, type 1 (1);	0.323377	0.32081	N	0.006620	D	0.85287	0.5662	N	0.10874	0.06	0.09310	N	0.999997	B;P;P;P;B;P	0.40553	0.01;0.721;0.58;0.716;0.444;0.58	B;B;P;B;B;P	0.47864	0.022;0.373;0.559;0.311;0.356;0.559	T	0.79334	-0.1846	10	0.59425	D	0.04	-8.4587	12.3748	0.55273	0.0:0.9176:0.0:0.0824	.	1153;1268;1212;1209;1268;1278	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	L	1268;1278;1212;1209;1268;1153;952	ENSP00000382342:S1268L;ENSP00000382340:S1278L;ENSP00000263019:S1212L;ENSP00000263017:S1209L;ENSP00000263014:S1268L;ENSP00000263016:S1153L	ENSP00000263014:S1268L	S	+	2	0	ABCC1	16127253	0.000000	0.05858	0.570000	0.28473	0.616000	0.37450	1.053000	0.30442	1.103000	0.41568	0.591000	0.81541	TCA		0.537	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		6	54	0	0	0	0.00308	0	6	54		
MAPK3	5595	broad.mit.edu	37	16	30134420	30134420	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:30134420G>A	ENST00000263025.4	-	1	195	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MAPK3_ENST00000322266.5_Silent_p.D37D|MAPK3_ENST00000484663.1_5'Flank|MAPK3_ENST00000403394.1_Silent_p.D37D|MAPK3_ENST00000395202.1_Silent_p.D37D|MAPK3_ENST00000395199.3_Silent_p.D37D|MAPK3_ENST00000395200.1_Silent_p.D8D	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	37					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GCGGGCCCACGTCGAACGGCT	0.751																																						uc002dws.2		NaN																	0					0						c.(109-111)GAC>GAT		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						21.0	20.0	20.0					16																	30134420		2191	4286	6477	SO:0001819	synonymous_variant	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30134420G>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.111C>T	16.37:g.30134420G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_5'Flank|MAPK3_uc002dwv.3_Silent_p.D37D|MAPK3_uc002dwt.2_Silent_p.D37D|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	p.D37D	NM_002746	NP_002737	P27361	MK03_HUMAN			1	211	-			37					A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	ENST00000263025.4	37	c.111C>T	CCDS10672.1																																																																																				0.751	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2				4	42	0	0	0	0.001168	0	4	42		
SRCAP	10847	broad.mit.edu	37	16	30735318	30735318	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:30735318C>G	ENST00000262518.4	+	25	4958	c.4573C>G	c.(4573-4575)Ctg>Gtg	p.L1525V	SRCAP_ENST00000344771.4_Missense_Mutation_p.L1367V|SRCAP_ENST00000395059.2_Missense_Mutation_p.L1463V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1525	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGTCACCCTCTGTTGTTGGC	0.587																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(4573-4575)CTG>GTG		Snf2-related CBP activator protein							75.0	62.0	67.0					16																	30735318		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735318C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4573C>G	16.37:g.30735318C>G	ENSP00000262518:p.Leu1525Val					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L1320V|SRCAP_uc010bzz.1_Missense_Mutation_p.L1095V	p.L1525V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	4958	+			1525			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4573C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244298	0.22796	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92647	-3.08;-2.97;-2.83	5.13	3.19	0.36642	.	0.000000	0.41823	D	0.000806	D	0.89319	0.6681	N	0.19112	0.55	0.09310	N	0.999994	D;D;D	0.65815	0.986;0.995;0.991	P;P;P	0.59703	0.795;0.862;0.609	T	0.80770	-0.1234	10	0.39692	T	0.17	-7.9406	7.3708	0.26800	0.0:0.8061:0.0:0.1939	.	1367;1463;1525	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	1525;1463;1367	ENSP00000262518:L1525V;ENSP00000378499:L1463V;ENSP00000343042:L1367V	ENSP00000262518:L1525V	L	+	1	2	SRCAP	30642819	0.000000	0.05858	0.997000	0.53966	0.912000	0.54170	0.352000	0.20113	0.750000	0.32877	0.460000	0.39030	CTG		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		5	41	0	0	0	0.001168	0	5	41		
CHD9	80205	broad.mit.edu	37	16	53338213	53338213	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:53338213G>A	ENST00000398510.3	+	30	6382	c.6295G>A	c.(6295-6297)Gaa>Aaa	p.E2099K	CHD9_ENST00000447540.1_Missense_Mutation_p.E2099K|CHD9_ENST00000566029.1_Missense_Mutation_p.E2099K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2099K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2099					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGAAAATGTGAAACAGACAG	0.448																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(6295-6297)GAA>AAA		chromodomain helicase DNA binding protein 9							57.0	57.0	57.0					16																	53338213		1896	4107	6003	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338213G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6295G>A	16.37:g.53338213G>A	ENSP00000381522:p.Glu2099Lys					CHD9_uc002egy.2_Missense_Mutation_p.E2099K|CHD9_uc002ehc.2_Missense_Mutation_p.E2099K|CHD9_uc002ehf.2_Missense_Mutation_p.E1213K|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Missense_Mutation_p.E105K	p.E2099K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6459	+		all_cancers(37;0.0212)	2099					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6295G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.866356	0.91511	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.71817	-0.6;-0.6	6.16	6.16	0.99307	.	0.192585	0.36066	N	0.002819	T	0.67534	0.2903	L	0.43152	1.355	0.58432	D	0.999999	P;P;P;P	0.39665	0.682;0.592;0.457;0.592	B;B;B;B	0.37601	0.197;0.254;0.129;0.254	T	0.66885	-0.5810	10	0.46703	T	0.11	-13.13	20.8598	0.99761	0.0:0.0:1.0:0.0	.	2099;2099;2099;2099	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	2099	ENSP00000396345:E2099K;ENSP00000381522:E2099K	ENSP00000381522:E2099K	E	+	1	0	CHD9	51895714	1.000000	0.71417	0.986000	0.45419	0.893000	0.52053	8.898000	0.92538	2.937000	0.99478	0.650000	0.86243	GAA		0.448	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		3	23	0	0	0	0.004672	0	3	23		
FUK	197258	broad.mit.edu	37	16	70500855	70500855	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:70500855C>T	ENST00000288078.6	+	6	714	c.482C>T	c.(481-483)cCt>cTt	p.P161L	FUK_ENST00000428974.2_Missense_Mutation_p.P144L|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.P193L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	161						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGCAAATCCTGGTGAGCCT	0.647																																						uc002eyy.2		NaN																	0				ovary(1)	1						c.(481-483)CCT>CTT		fucokinase							51.0	58.0	56.0					16																	70500855		2104	4223	6327	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70500855C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.482C>T	16.37:g.70500855C>T	ENSP00000288078:p.Pro161Leu					FUK_uc010vmb.1_Missense_Mutation_p.P144L|FUK_uc010cft.2_Missense_Mutation_p.P193L|FUK_uc002eyz.2_Intron	p.P161L	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			6	540	+		Ovarian(137;0.0694)	161					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.482C>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392996	0.42410	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.31510	1.49;1.49;1.49	5.24	3.29	0.37713	L-fucokinase (1);	0.214952	0.41605	N	0.000852	T	0.29423	0.0733	L	0.60455	1.87	0.41010	D	0.984995	B;P;B	0.47962	0.032;0.903;0.004	B;B;B	0.43052	0.042;0.406;0.015	T	0.08576	-1.0715	10	0.15952	T	0.53	-1.2491	11.7312	0.51737	0.0:0.8565:0.0:0.1435	.	144;193;161	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	L	161;193;144	ENSP00000288078:P161L;ENSP00000368192:P193L;ENSP00000408007:P144L	ENSP00000288078:P161L	P	+	2	0	FUK	69058356	0.989000	0.36119	0.815000	0.32552	0.029000	0.11900	1.876000	0.39588	0.735000	0.32537	-0.140000	0.14226	CCT		0.647	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2		NM_145059		9	77	0	0	0	0.008291	0	9	77		
PLCG2	5336	broad.mit.edu	37	16	81929432	81929432	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:81929432G>C	ENST00000359376.3	+	13	1307	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	365	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGACGGGCCCGATGGGAAGCC	0.607																																						uc002fgt.2		NaN																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1093-1095)GAT>CAT		phospholipase C, gamma 2							94.0	103.0	100.0					16																	81929432		2063	4237	6300	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81929432G>C		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1093G>C	16.37:g.81929432G>C	ENSP00000352336:p.Asp365His					PLCG2_uc010chg.1_Missense_Mutation_p.D365H	p.D365H	NM_002661	NP_002652	P16885	PLCG2_HUMAN			13	1245	+			365			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1093G>C	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239452	0.22711	.	.	ENSG00000197943	ENST00000359376	T	0.57595	0.39	4.95	3.99	0.46301	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.222920	0.39407	N	0.001370	T	0.74627	0.3741	M	0.88377	2.95	0.58432	D	0.999998	D;D	0.76494	0.984;0.999	D;D	0.68353	0.937;0.957	T	0.80336	-0.1425	10	0.87932	D	0	.	13.4055	0.60911	0.0767:0.0:0.9233:0.0	.	232;365	B4E3H3;P16885	.;PLCG2_HUMAN	H	365	ENSP00000352336:D365H	ENSP00000352336:D365H	D	+	1	0	PLCG2	80486933	1.000000	0.71417	0.098000	0.21074	0.206000	0.24218	5.476000	0.66793	1.196000	0.43129	0.557000	0.71058	GAT		0.607	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1				6	87	0	0	0	0.00308	0	6	87		
OR1D2	4991	broad.mit.edu	37	17	2995465	2995465	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:2995465T>A	ENST00000331459.1	-	1	825	c.826A>T	c.(826-828)Atg>Ttg	p.M276L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	276					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACAGCATACATCACTGTGGCT	0.483																																						uc010vrb.1		NaN																	0				ovary(1)	1						c.(826-828)ATG>TTG		olfactory receptor, family 1, subfamily D,							123.0	116.0	118.0					17																	2995465		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995465T>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.826A>T	17.37:g.2995465T>A	ENSP00000327585:p.Met276Leu						p.M276L	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	826	-			276			Helical; Name=7; (Potential).		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.826A>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	t	9.420	1.082849	0.20309	.	.	ENSG00000184166	ENST00000331459	T	0.00021	9.03	3.21	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04655	-0.195	0.24424	N	0.9946	B	0.06786	0.001	B	0.18871	0.023	T	0.18555	-1.0333	9	0.54805	T	0.06	.	2.8686	0.05609	0.3383:0.1253:0.0:0.5364	.	276	P34982	OR1D2_HUMAN	L	276	ENSP00000327585:M276L	ENSP00000327585:M276L	M	-	1	0	OR1D2	2942215	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.334000	0.07883	1.314000	0.45095	0.443000	0.29094	ATG		0.483	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1		NM_002548		9	113	0	0	0	0.000978	0	9	113		
ASGR2	433	broad.mit.edu	37	17	7017471	7017471	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7017471C>T	ENST00000380952.2	-	2	353	c.89G>A	c.(88-90)aGg>aAg	p.R30K	ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000355035.5_Missense_Mutation_p.R30K|ASGR2_ENST00000446679.2_Intron	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	30					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GGGATTCAGCCTGCGAGTGCC	0.537																																						uc002gep.3		NaN																	0				ovary(1)	1						c.(88-90)AGG>AAG		asialoglycoprotein receptor 2 isoform a	Antihemophilic Factor(DB00025)						165.0	133.0	144.0					17																	7017471		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7017471C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.89G>A	17.37:g.7017471C>T	ENSP00000370339:p.Arg30Lys					ASGR2_uc002gem.1_5'UTR|ASGR2_uc002gen.1_Intron|ASGR2_uc002geo.1_Missense_Mutation_p.R30K|ASGR2_uc002ger.3_Missense_Mutation_p.R30K|ASGR2_uc002geq.3_Intron|ASGR2_uc010clw.2_Intron|ASGR2_uc010vtl.1_Intron	p.R30K	NM_001181	NP_001172	P07307	ASGR2_HUMAN			2	354	-			30			Cytoplasmic (Potential).		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.89G>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100030	0.20552	.	.	ENSG00000161944	ENST00000355035;ENST00000380952	T;T	0.17370	2.28;2.28	3.59	0.333	0.15943	Hepatic lectin, N-terminal (1);	0.903516	0.09102	N	0.848452	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.20767	0.031;0.031	T	0.42632	-0.9440	10	0.07813	T	0.8	.	2.0942	0.03664	0.2108:0.4869:0.188:0.1143	.	30;30	P07307;Q7Z4G9	ASGR2_HUMAN;.	K	30	ENSP00000347140:R30K;ENSP00000370339:R30K	ENSP00000347140:R30K	R	-	2	0	ASGR2	6958195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.466000	0.06672	0.124000	0.18369	-0.903000	0.02851	AGG		0.537	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1		NM_080914		11	115	0	0	0	0.001855	0	11	115		
DVL2	1856	broad.mit.edu	37	17	7131015	7131015	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7131015G>A	ENST00000005340.5	-	11	1472	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.S391F	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	397					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCTCATGGAGGAGGAACCTGG	0.597																																						uc002gez.1		NaN																	0				lung(1)|kidney(1)	2						c.(1189-1191)TCC>TTC		dishevelled 2							64.0	62.0	63.0					17																	7131015		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7131015G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1190C>T	17.37:g.7131015G>A	ENSP00000005340:p.Ser397Phe					DVL2_uc010vtr.1_Missense_Mutation_p.S391F	p.S397F	NM_004422	NP_004413	O14641	DVL2_HUMAN			11	1472	-			397					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1190C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455747	0.26161	.	.	ENSG00000004975	ENST00000005340	T	0.04406	3.63	4.65	4.65	0.58169	.	0.074716	0.53938	D	0.000041	T	0.04815	0.0130	N	0.22421	0.69	0.42436	D	0.992695	B;B	0.23128	0.08;0.017	B;B	0.20384	0.029;0.017	T	0.43147	-0.9409	10	0.52906	T	0.07	-8.0052	15.0392	0.71774	0.0:0.0:1.0:0.0	.	391;397	B4DLQ0;O14641	.;DVL2_HUMAN	F	397	ENSP00000005340:S397F	ENSP00000005340:S397F	S	-	2	0	DVL2	7071739	1.000000	0.71417	0.988000	0.46212	0.968000	0.65278	3.855000	0.55957	2.412000	0.81896	0.563000	0.77884	TCC		0.597	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2		NM_004422		3	37	0	0	0	0.004672	0	3	37		
SAT2	112483	broad.mit.edu	37	17	7530510	7530510	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7530510G>C	ENST00000269298.5	-	3	372	c.153C>G	c.(151-153)ttC>ttG	p.F51L	SHBG_ENST00000380450.4_5'Flank|SHBG_ENST00000575903.1_5'Flank|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000416273.3_5'Flank|SAT2_ENST00000573566.1_Missense_Mutation_p.F51L|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000441599.2_5'Flank	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	51	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AACAGTGATAGAAAGGATTGT	0.547																																						uc002gic.2		NaN																	1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)		0						c.(151-153)TTC>TTG		diamine N-acetyltransferase 2	Spermine(DB00127)						57.0	62.0	60.0					17																	7530510		2203	4300	6503	SO:0001583	missense	112483					cytoplasm	diamine N-acetyltransferase activity	g.chr17:7530510G>C	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.153C>G	17.37:g.7530510G>C	ENSP00000269298:p.Phe51Leu					SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SHBG_uc010cmu.2_Intron|SAT2_uc002gib.1_RNA|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank	p.F51L	NM_133491	NP_597998	Q96F10	SAT2_HUMAN		READ - Rectum adenocarcinoma(115;0.166)	3	394	-			51			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000269298.5	37	c.153C>G	CCDS11116.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327872	0.41197	.	.	ENSG00000141504	ENST00000380466;ENST00000269298	T	0.39997	1.05	5.12	2.97	0.34412	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.220560	0.46442	N	0.000281	T	0.21062	0.0507	N	0.21324	0.655	0.80722	D	1	B	0.24317	0.101	B	0.12837	0.008	T	0.04796	-1.0926	10	0.10377	T	0.69	-38.0824	5.5044	0.16846	0.1109:0.2066:0.6824:0.0	.	51	Q96F10	SAT2_HUMAN	L	130;51	ENSP00000269298:F51L	ENSP00000269298:F51L	F	-	3	2	SAT2	7471235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.485000	0.22324	1.356000	0.45884	0.557000	0.71058	TTC		0.547	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1		NM_133491		7	80	0	0	0	0.00308	0	7	80		
DNAH2	146754	broad.mit.edu	37	17	7643790	7643790	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7643790T>C	ENST00000572933.1	+	10	2889	c.1429T>C	c.(1429-1431)Tca>Cca	p.S477P	DNAH2_ENST00000082259.3_Missense_Mutation_p.S559P|DNAH2_ENST00000389173.2_Missense_Mutation_p.S477P|DNAH2_ENST00000570791.1_Missense_Mutation_p.S559P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	477	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGATCACCTCAGCCTTCGA	0.667																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1429-1431)TCA>CCA		dynein heavy chain domain 3							134.0	111.0	119.0					17																	7643790		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643790T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1429T>C	17.37:g.7643790T>C	ENSP00000458355:p.Ser477Pro					DNAH2_uc002git.2_Missense_Mutation_p.S559P|DNAH2_uc010vuk.1_Missense_Mutation_p.S477P	p.S477P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			9	1443	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	477			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1429T>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174828	0.38413	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.57107	0.42;0.42	4.3	1.99	0.26369	Dynein heavy chain, domain-1 (1);	0.431080	0.22617	N	0.057746	T	0.54013	0.1832	M	0.76002	2.32	0.09310	N	1	B;P	0.35542	0.263;0.508	B;B	0.43680	0.427;0.373	T	0.51371	-0.8714	10	0.62326	D	0.03	.	5.3918	0.16247	0.2628:0.0:0.1447:0.5925	.	477;559	Q9P225;Q9P225-3	DYH2_HUMAN;.	P	477;477;559	ENSP00000373825:S477P;ENSP00000082259:S559P	ENSP00000082259:S559P	S	+	1	0	DNAH2	7584515	0.455000	0.25736	0.515000	0.27774	0.503000	0.33858	1.245000	0.32790	1.824000	0.53156	0.451000	0.29950	TCA		0.667	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		13	219	0	0	0	0.004007	0	13	219		
DNAH2	146754	broad.mit.edu	37	17	7674653	7674653	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7674653C>T	ENST00000572933.1	+	28	5828	c.4368C>T	c.(4366-4368)atC>atT	p.I1456I	DNAH2_ENST00000389173.2_Silent_p.I1456I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1456	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCAGAATATCTTCCTAGGAG	0.512																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4366-4368)ATC>ATT		dynein heavy chain domain 3							107.0	109.0	108.0					17																	7674653		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7674653C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4368C>T	17.37:g.7674653C>T							p.I1456I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			27	4382	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1456			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.4368C>T	CCDS32551.1																																																																																				0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		20	152	0	0	0	0.00632	0	20	152		
SPDYE4	388333	broad.mit.edu	37	17	8659711	8659711	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:8659711C>T	ENST00000328794.6	-	3	560	c.384G>A	c.(382-384)ctG>ctA	p.L128L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	128										breast(1)|endometrium(2)|kidney(1)	4						CTGACACCCTCAGGTCTTTGT	0.527																																						uc010cnz.1		NaN																	0					0						c.(382-384)CTG>CTA		speedy homolog E4							173.0	151.0	158.0					17																	8659711		692	1591	2283	SO:0001819	synonymous_variant	388333							g.chr17:8659711C>T	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.384G>A	17.37:g.8659711C>T							p.L128L	NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN			3	561	-			128					B2RUZ6	Silent	SNP	ENST00000328794.6	37	c.384G>A	CCDS45609.1																																																																																				0.527	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1		NM_001128076		14	156	0	0	0	0.004007	0	14	156		
TOM1L2	146691	broad.mit.edu	37	17	17754256	17754256	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:17754256G>A	ENST00000379504.3	-	13	1372	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	TOM1L2_ENST00000542206.1_Missense_Mutation_p.A311V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.A385V|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Missense_Mutation_p.A406V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.A385V|TOM1L2_ENST00000581396.1_Missense_Mutation_p.A380V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.A163V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	430					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AGATGGCTGCGCAACGGGGAT	0.587																																					Melanoma(192;2505 2909 14455 25269)	uc002grz.3		NaN																	0					0						c.(1288-1290)GCG>GTG		target of myb1-like 2 isoform 3							95.0	82.0	86.0					17																	17754256		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17754256G>A	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1289C>T	17.37:g.17754256G>A	ENSP00000368818:p.Ala430Val					TOM1L2_uc002gry.3_Missense_Mutation_p.A380V|TOM1L2_uc010vwy.1_Missense_Mutation_p.A406V|TOM1L2_uc010cpr.2_Missense_Mutation_p.A385V|TOM1L2_uc010vwz.1_Missense_Mutation_p.A311V|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.A163V	p.A430V	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN			13	1446	-	all_neural(463;0.228)		430					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.1289C>T	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412110	0.62511	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000542206	T;T;T;T	0.47528	1.91;1.9;1.83;0.84	5.38	3.31	0.37934	.	0.181563	0.49305	N	0.000153	T	0.38108	0.1028	L	0.46157	1.445	0.36229	D	0.852513	B;B;B;B;B	0.21071	0.051;0.015;0.003;0.005;0.004	B;B;B;B;B	0.15484	0.013;0.003;0.003;0.002;0.003	T	0.34428	-0.9829	10	0.36615	T	0.2	-8.4539	9.5851	0.39512	0.1837:0.0:0.8163:0.0	.	311;406;385;430;380	F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;TM1L2_HUMAN;.	V	430;380;385;406;311	ENSP00000368818:A430V;ENSP00000379088:A385V;ENSP00000438621:A406V;ENSP00000445188:A311V	ENSP00000312860:A380V	A	-	2	0	TOM1L2	17694981	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.300000	0.51834	0.536000	0.28733	0.557000	0.71058	GCG		0.587	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1				14	121	0	0	0	0.004007	0	14	121		
EPN2	22905	broad.mit.edu	37	17	19186762	19186762	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:19186762G>C	ENST00000314728.5	+	3	814	c.330G>C	c.(328-330)caG>caC	p.Q110H	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000571254.1_Missense_Mutation_p.Q110H|EPN2_ENST00000347697.2_Missense_Mutation_p.Q110H|EPN2_ENST00000395626.1_Missense_Mutation_p.Q110H|EPN2_ENST00000395620.2_Missense_Mutation_p.Q110H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	110	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGGACTTCCAGTACATTGACC	0.567																																						uc002gvd.3		NaN																	0				skin(1)	1						c.(328-330)CAG>CAC		epsin 2 isoform b							84.0	71.0	76.0					17																	19186762		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19186762G>C	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.330G>C	17.37:g.19186762G>C	ENSP00000320543:p.Gln110His					EPN2_uc002gvc.2_Missense_Mutation_p.Q110H|EPN2_uc010vyn.1_Missense_Mutation_p.Q110H|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.Q110H|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.Q110H|EPN2_uc010vyp.1_Missense_Mutation_p.Q110H|EPN2_uc010vyq.1_Missense_Mutation_p.Q110H|EPN2_uc002gvh.1_Missense_Mutation_p.Q110H	p.Q110H	NM_014964	NP_055779	O95208	EPN2_HUMAN			3	778	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		110			ENTH.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.330G>C	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935185	0.92458	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.98	4.98	0.66077	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	L	0.52905	1.665	0.80722	D	1	D;P;P;D;D;P	0.71674	0.998;0.704;0.719;0.997;0.998;0.866	D;P;P;D;D;P	0.85130	0.997;0.578;0.561;0.994;0.997;0.639	T	0.65195	-0.6227	10	0.87932	D	0	-19.6916	18.5914	0.91214	0.0:0.0:1.0:0.0	.	110;110;110;110;110;110	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	H	110	ENSP00000261495:Q110H;ENSP00000320543:Q110H;ENSP00000378990:Q110H;ENSP00000378982:Q110H;ENSP00000378988:Q110H	ENSP00000320543:Q110H	Q	+	3	2	EPN2	19127355	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.800000	0.62524	2.457000	0.83068	0.561000	0.74099	CAG		0.567	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3		NM_014964		7	87	0	0	0	0.004482	0	7	87		
ULK2	9706	broad.mit.edu	37	17	19689285	19689285	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:19689285C>G	ENST00000395544.4	-	21	2715	c.2216G>C	c.(2215-2217)tGt>tCt	p.C739S	ULK2_ENST00000361658.2_Missense_Mutation_p.C739S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	739					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CATGTGGGTACAAGTGGGGGC	0.483																																						uc002gwm.3		NaN																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(2215-2217)TGT>TCT		unc-51-like kinase 2							79.0	75.0	77.0					17																	19689285		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19689285C>G	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2216G>C	17.37:g.19689285C>G	ENSP00000378914:p.Cys739Ser					ULK2_uc002gwn.2_Missense_Mutation_p.C739S	p.C739S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			21	2725	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		739					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.2216G>C	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263534	0.39995	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.38560	1.13;1.13	5.51	5.51	0.81932	.	0.047277	0.85682	D	0.000000	T	0.28863	0.0716	N	0.14661	0.345	0.51767	D	0.999932	B	0.18166	0.026	B	0.18561	0.022	T	0.08066	-1.0740	10	0.16896	T	0.51	-6.3611	18.4087	0.90543	0.0:1.0:0.0:0.0	.	739	Q8IYT8	ULK2_HUMAN	S	739	ENSP00000354877:C739S;ENSP00000378914:C739S	ENSP00000354877:C739S	C	-	2	0	ULK2	19629877	1.000000	0.71417	0.982000	0.44146	0.896000	0.52359	5.461000	0.66699	2.602000	0.87976	0.536000	0.68110	TGT		0.483	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2		NM_014683		7	62	0	0	0	0.001984	0	7	62		
NLK	51701	broad.mit.edu	37	17	26449721	26449721	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:26449721G>A	ENST00000407008.3	+	2	1269	c.551G>A	c.(550-552)cGg>cAg	p.R184Q		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGGGTCTTCCGGGAATTGAAG	0.393																																						uc010crj.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(550-552)CGG>CAG		nemo like kinase							146.0	145.0	146.0					17																	26449721		2203	4300	6503	SO:0001583	missense	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26449721G>A	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.551G>A	17.37:g.26449721G>A	ENSP00000384625:p.Arg184Gln					NLK_uc010cri.1_RNA	p.R184Q	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	2	763	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		184			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	c.551G>A	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	G	36	5.658461	0.96734	.	.	ENSG00000087095	ENST00000407008	T	0.52526	0.66	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69989	-0.4995	10	0.87932	D	0	-12.3687	18.3344	0.90282	0.0:0.0:1.0:0.0	.	184	Q9UBE8	NLK_HUMAN	Q	184	ENSP00000384625:R184Q	ENSP00000384625:R184Q	R	+	2	0	NLK	23473848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.638000	0.89438	0.591000	0.81541	CGG		0.393	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3		NM_016231		7	90	0	0	0	0.00308	0	7	90		
ATAD5	79915	broad.mit.edu	37	17	29220310	29220310	+	Splice_Site	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:29220310A>T	ENST00000321990.4	+	21	4818		c.e21-1			NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATTGTTTTTCAGCACAAAATC	0.294																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.e21-2		ATPase family, AAA domain containing 5							102.0	119.0	113.0					17																	29220310		2195	4298	6493	SO:0001630	splice_region_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220310A>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4441-1A>T	17.37:g.29220310A>T							p.H1481_splice	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			21	4787	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)						Q05DH0|Q69YR6|Q9H9I1	Splice_Site	SNP	ENST00000321990.4	37	c.4441_splice	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378780	0.61735	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9278	0.52829	0.8549:0.1451:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATAD5	26244436	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.450000	0.60041	2.241000	0.73720	0.482000	0.46254	.		0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857	Intron	61	253	0	0	0	0.00361	0	61	253		
RAB11FIP4	84440	broad.mit.edu	37	17	29857477	29857477	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:29857477C>T	ENST00000325874.8	+	14	2016	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S494L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	596	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GACACCGCCTCGCGCGATGAG	0.582																																						uc002hgn.1		NaN																	0				skin(1)	1						c.(1786-1788)TCG>TTG		RAB11 family interacting protein 4 (class II)							77.0	79.0	78.0					17																	29857477		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29857477C>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1787C>T	17.37:g.29857477C>T	ENSP00000312837:p.Ser596Leu					RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S494L	p.S596L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			14	2016	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	596			Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1787C>T	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.976147	0.34848	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	6.04	6.04	0.98038	Rab-binding domain FIP-RBD (2);	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.981	T	0.74734	-0.3565	8	.	.	.	-10.4992	16.0793	0.80989	0.0:1.0:0.0:0.0	.	494;596	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	L	596	.	.	S	+	2	0	RAB11FIP4	26881597	1.000000	0.71417	0.933000	0.37362	0.082000	0.17680	7.506000	0.81665	2.873000	0.98535	0.561000	0.74099	TCG		0.582	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2		NM_032932		11	146	0	0	0	0.001855	0	11	146		
CCT6B	10693	broad.mit.edu	37	17	33285634	33285634	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:33285634G>A	ENST00000314144.5	-	3	396	c.281C>T	c.(280-282)tCa>tTa	p.S94L	ZNF830_ENST00000361952.3_5'Flank|CCT6B_ENST00000436961.3_Intron|CCT6B_ENST00000421975.3_Missense_Mutation_p.S94L	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	94				S -> T (in Ref. 1; BAA11347). {ECO:0000305}.	chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TAGAACATTTGAAGTAGTACC	0.353																																						uc002hig.2		NaN																	0				pancreas(1)	1						c.(280-282)TCA>TTA		chaperonin containing TCP1, subunit 6B							100.0	90.0	93.0					17																	33285634		2203	4300	6503	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33285634G>A	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.281C>T	17.37:g.33285634G>A	ENSP00000327191:p.Ser94Leu					CCT6B_uc010ctg.2_Missense_Mutation_p.S94L|CCT6B_uc010wcc.1_Intron|ZNF830_uc002hih.3_5'Flank	p.S94L	NM_006584	NP_006575	Q92526	TCPW_HUMAN			3	375	-		Ovarian(249;0.17)	94	S -> T (in Ref. 1; BAA11347).				B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.281C>T	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699982	0.88924	.	.	ENSG00000132141	ENST00000421975;ENST00000314144	T;T	0.80393	-1.37;-1.37	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	H	0.96333	3.805	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.70016	0.958;0.967	D	0.94569	0.7769	10	0.87932	D	0	-8.4625	15.9642	0.79952	0.0:0.0:1.0:0.0	.	94;94	B4DX20;Q92526	.;TCPW_HUMAN	L	94	ENSP00000398044:S94L;ENSP00000327191:S94L	ENSP00000327191:S94L	S	-	2	0	CCT6B	30309747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.965000	0.93393	2.693000	0.91896	0.650000	0.86243	TCA		0.353	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1		NM_006584		4	62	0	0	0	0.000602	0	4	62		
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A	rs202015813		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39659272G>A	ENST00000246635.3	-	4	860	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R272C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R272C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		20628	0.0		0.001	False		,,,				2504	0.0					uc002hwu.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(814-816)CGC>TGC		keratin 13 isoform a							222.0	210.0	214.0					17																	39659272		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659272G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.814C>T	17.37:g.39659272G>A	ENSP00000246635:p.Arg272Cys					KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc002hww.2_Missense_Mutation_p.R165C|KRT13_uc010wfr.1_Missense_Mutation_p.R165C|KRT13_uc010cxo.2_Missense_Mutation_p.R272C|KRT13_uc002hwx.1_Missense_Mutation_p.R260C	p.R272C	NM_153490	NP_705694	P13646	K1C13_HUMAN			4	877	-		Breast(137;0.000286)	272			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.814C>T	CCDS11396.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.15	3.559685	0.65538	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.78595	-1.19;-1.19	4.32	4.32	0.51571	Filament (1);	0.000000	0.47852	D	0.000209	T	0.77260	0.4104	L	0.56124	1.755	0.50813	D	0.999892	B;P;B;P	0.38280	0.397;0.625;0.397;0.625	B;P;B;P	0.45377	0.119;0.478;0.119;0.478	T	0.79633	-0.1722	10	0.87932	D	0	.	10.5407	0.45031	0.0:0.0:0.666:0.334	.	260;272;272;272	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	272;272;260	ENSP00000246635:R272C;ENSP00000336604:R272C	ENSP00000157775:R260C	R	-	1	0	KRT13	36912798	0.087000	0.21565	0.998000	0.56505	0.884000	0.51177	1.928000	0.40104	2.401000	0.81631	0.561000	0.74099	CGC		0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1		NM_153490		45	701	0	0	0	0.00361	0	45	701		
KRT17	3872	broad.mit.edu	37	17	39777261	39777261	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39777261G>C	ENST00000311208.8	-	5	984	c.917C>G	c.(916-918)aCc>aGc	p.T306S	JUP_ENST00000540235.1_Missense_Mutation_p.T465S	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	306	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGCCTGCATGGTGCGCCGGAG	0.602																																					Pancreas(92;1242 2086 39193 50508)	uc002hxh.2		NaN																	0				ovary(1)|skin(1)	2						c.(916-918)ACC>AGC		keratin 17							70.0	60.0	64.0					17																	39777261		2203	4300	6503	SO:0001583	missense	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39777261G>C	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.917C>G	17.37:g.39777261G>C	ENSP00000308452:p.Thr306Ser					JUP_uc010wfs.1_Intron	p.T306S	NM_000422	NP_000413	Q04695	K1C17_HUMAN			5	1038	-		Breast(137;0.000307)	306			Coil 2.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.917C>G	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550718	0.45383	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.88975	-2.45;-2.45	3.99	1.75	0.24633	Prefoldin (1);Filament (1);	0.298226	0.23664	N	0.045793	D	0.83834	0.5340	L	0.51422	1.61	0.20307	N	0.999913	B	0.23185	0.081	B	0.30943	0.122	T	0.75587	-0.3266	10	0.59425	D	0.04	.	5.4262	0.16427	0.0833:0.1421:0.6286:0.1461	.	306	Q04695	K1C17_HUMAN	S	306;465	ENSP00000308452:T306S;ENSP00000441751:T465S	ENSP00000441751:T465S	T	-	2	0	JUP;KRT17	37030787	0.151000	0.22747	0.711000	0.30485	0.864000	0.49448	1.140000	0.31516	0.997000	0.38969	0.561000	0.74099	ACC		0.602	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1		NM_000422		11	99	0	0	0	0.00245	0	11	99		
SLC25A39	51629	broad.mit.edu	37	17	42397441	42397441	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:42397441G>A	ENST00000377095.5	-	12	1127	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	SLC25A39_ENST00000225308.8_Silent_p.I328I|SLC25A39_ENST00000537904.2_Silent_p.I313I|SLC25A39_ENST00000590194.1_Silent_p.I328I|SLC25A39_ENST00000586016.1_Silent_p.I204I	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	336					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGATCATGATGGCACAGG	0.617																																						uc002ign.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1006-1008)ATC>ATT		solute carrier family 25, member 39 isoform a							85.0	86.0	85.0					17																	42397441		2203	4300	6503	SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42397441G>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.1008C>T	17.37:g.42397441G>A						SLC25A39_uc002igm.2_Silent_p.I328I|SLC25A39_uc002igo.2_Silent_p.I328I|SLC25A39_uc010wiw.1_Silent_p.I313I|SLC25A39_uc010czu.2_Silent_p.I204I	p.I336I	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	12	1162	-		Prostate(33;0.0233)	336			Solcar 3.|Helical; Name=6; (Potential).		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.1008C>T	CCDS45700.1																																																																																				0.617	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1		NM_016016		15	130	0	0	0	0.007413	0	15	130		
SPAG9	9043	broad.mit.edu	37	17	49043730	49043730	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:49043730G>A	ENST00000262013.7	-	30	4077	c.3869C>T	c.(3868-3870)tCa>tTa	p.S1290L	SPAG9_ENST00000509724.1_5'Flank|SPAG9_ENST00000505279.1_Missense_Mutation_p.S1280L|SPAG9_ENST00000357122.4_Missense_Mutation_p.S1276L|SPAG9_ENST00000510283.1_Missense_Mutation_p.S1146L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1290					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGAAGTTCTGATTCTCCACC	0.418																																						uc002itc.2		NaN																	0				lung(4)|breast(1)	5						c.(3868-3870)TCA>TTA		sperm associated antigen 9 isoform 1							147.0	130.0	135.0					17																	49043730		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49043730G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3869C>T	17.37:g.49043730G>A	ENSP00000262013:p.Ser1290Leu					SPAG9_uc002itb.2_Missense_Mutation_p.S1276L|SPAG9_uc002itd.2_Missense_Mutation_p.S1280L|SPAG9_uc002ita.2_Missense_Mutation_p.S1146L	p.S1290L	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		30	4078	-			1290					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3869C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863559	0.51482	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.24538	1.86;1.85;1.86;1.86	5.74	5.74	0.90152	.	0.336851	0.30269	N	0.010004	T	0.32102	0.0818	L	0.54323	1.7	0.54753	D	0.999985	B;B;B;B	0.26041	0.14;0.0;0.001;0.001	B;B;B;B	0.28139	0.086;0.001;0.002;0.007	T	0.04593	-1.0940	10	0.52906	T	0.07	-13.3108	20.2982	0.98569	0.0:0.0:1.0:0.0	.	1280;1290;1276;1146	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	L	1290;1047;1037;1146;1280;1276;888	ENSP00000262013:S1290L;ENSP00000423165:S1146L;ENSP00000426900:S1280L;ENSP00000349636:S1276L	ENSP00000262013:S1290L	S	-	2	0	SPAG9	46398729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.041000	0.64196	2.873000	0.98535	0.563000	0.77884	TCA		0.418	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2		NM_003971		12	160	0	0	0	0.003163	0	12	160		
NOG	9241	broad.mit.edu	37	17	54672146	54672146	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:54672146G>A	ENST00000332822.4	+	1	1087	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	188					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					CTCCGTGCCCGAGGGCATGGT	0.687																																						uc002iup.2		NaN																	0					0						c.(562-564)GAG>AAG		noggin precursor							34.0	33.0	33.0					17																	54672146		2203	4300	6503	SO:0001583	missense	9241				BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity	g.chr17:54672146G>A	U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.562G>A	17.37:g.54672146G>A	ENSP00000328181:p.Glu188Lys						p.E188K	NM_005450	NP_005441	Q13253	NOGG_HUMAN			1	1087	+	Breast(9;5.24e-08)		188						Missense_Mutation	SNP	ENST00000332822.4	37	c.562G>A	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972222	0.92919	.	.	ENSG00000183691	ENST00000332822	D	0.98329	-4.87	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99556	1.0967	10	0.54805	T	0.06	-10.8003	17.8872	0.88861	0.0:0.0:1.0:0.0	.	188	Q13253	NOGG_HUMAN	K	188	ENSP00000328181:E188K	ENSP00000328181:E188K	E	+	1	0	NOG	52027145	1.000000	0.71417	0.949000	0.38748	0.977000	0.68977	9.505000	0.97989	2.463000	0.83235	0.462000	0.41574	GAG		0.687	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1		NM_005450		3	33	0	0	0	0.000602	0	3	33		
MED13	9969	broad.mit.edu	37	17	60032756	60032756	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60032756G>C	ENST00000397786.2	-	26	6031	c.5955C>G	c.(5953-5955)ttC>ttG	p.F1985L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1985					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTTGGGATTGAAAGCTAAAT	0.373																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(5953-5955)TTC>TTG		mediator complex subunit 13							108.0	96.0	100.0					17																	60032756		1849	4102	5951	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60032756G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5955C>G	17.37:g.60032756G>C	ENSP00000380888:p.Phe1985Leu						p.F1985L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			26	6032	-			1985					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5955C>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689837	0.68271	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74947	-0.89	5.17	0.952	0.19584	.	0.096969	0.64402	D	0.000001	T	0.61776	0.2374	L	0.41573	1.285	0.58432	D	0.999993	B	0.06786	0.001	B	0.08055	0.003	T	0.50767	-0.8789	10	0.35671	T	0.21	-8.758	10.0881	0.42430	0.4159:0.0:0.5841:0.0	.	1985	Q9UHV7	MED13_HUMAN	L	1985;1984	ENSP00000380888:F1985L	ENSP00000262436:F1984L	F	-	3	2	MED13	57387538	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.626000	0.37039	-0.025000	0.13918	0.467000	0.42956	TTC		0.373	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		9	53	0	0	0	0.008291	0	9	53		
MED13	9969	broad.mit.edu	37	17	60059762	60059762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60059762G>T	ENST00000397786.2	-	16	3678	c.3602C>A	c.(3601-3603)tCa>tAa	p.S1201*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1201					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCAAAGGGTGAAAATAAATT	0.388																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(3601-3603)TCA>TAA		mediator complex subunit 13							124.0	111.0	115.0					17																	60059762		1891	4126	6017	SO:0001587	stop_gained	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60059762G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3602C>A	17.37:g.60059762G>T	ENSP00000380888:p.Ser1201*						p.S1201*	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			16	3679	-			1201					B2RU05|O60334	Nonsense_Mutation	SNP	ENST00000397786.2	37	c.3602C>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	42	9.382822	0.99155	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2404	19.9196	0.97082	0.0:0.0:1.0:0.0	.	.	.	.	X	1201;1200	.	ENSP00000262436:S1200X	S	-	2	0	MED13	57414544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.708000	0.92522	0.650000	0.86243	TCA		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		8	134	1	0	1.06961e-07	0.00308	1.1503e-07	8	134		
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60059866G>T	ENST00000397786.2	-	16	3574	c.3498C>A	c.(3496-3498)ctC>ctA	p.L1166L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGTAGCCCTGAGAGCTTCAA	0.348																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(3496-3498)CTC>CTA		mediator complex subunit 13							124.0	112.0	116.0					17																	60059866		1870	4110	5980	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60059866G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3498C>A	17.37:g.60059866G>T							p.L1166L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			16	3575	-			1166					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.3498C>A	CCDS42366.1																																																																																				0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		13	134	1	0	2.27111e-07	0.001368	2.43194e-07	13	134		
CD300LB	124599	broad.mit.edu	37	17	72518922	72518922	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:72518922G>C	ENST00000392621.1	-	4	676	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	187					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGTTCATGTAGATAGGCTGTT	0.537																																						uc002jkx.2		NaN																	0				ovary(1)	1						c.(670-672)ATC>ATG		CD300 molecule-like family member b							151.0	125.0	134.0					17																	72518922		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72518922G>C	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.672C>G	17.37:g.72518922G>C	ENSP00000376397:p.Ile224Met						p.I224M	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			4	685	-			187			Cytoplasmic (Potential).		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.672C>G	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542646	0.27563	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	.	.	.	4.61	4.61	0.57282	.	2.948840	0.01587	N	0.021364	T	0.59905	0.2228	L	0.40543	1.245	0.58432	D	0.999997	P	0.45902	0.868	P	0.45195	0.473	T	0.50775	-0.8788	9	0.34782	T	0.22	-16.4042	13.6536	0.62325	0.0:0.0:1.0:0.0	.	187	A8K4G0	CLM7_HUMAN	M	187;224	.	ENSP00000317337:I224M	I	-	3	3	CD300LB	70030517	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	0.406000	0.21032	2.491000	0.84063	0.462000	0.41574	ATC		0.537	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2		NM_174892		9	116	0	0	0	0.000978	0	9	116		
TMC8	147138	broad.mit.edu	37	17	76136966	76136966	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:76136966G>C	ENST00000318430.5	+	16	2328	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TMC8_ENST00000589691.1_Missense_Mutation_p.E429Q|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	652					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTGCTGCCGGAGCCAGGCCC	0.682																																						uc002jup.2		NaN																	0					0						c.(1954-1956)GAG>CAG		transmembrane channel-like 8							19.0	22.0	21.0					17																	76136966		2200	4296	6496	SO:0001583	missense	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76136966G>C	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1954G>C	17.37:g.76136966G>C	ENSP00000325561:p.Glu652Gln					TMC8_uc002juq.2_Missense_Mutation_p.E429Q	p.E652Q	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		16	2336	+			652			Cytoplasmic (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.1954G>C	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189079	0.38707	.	.	ENSG00000167895	ENST00000318430	T	0.75154	-0.91	5.34	2.27	0.28462	.	0.802730	0.11070	N	0.603032	T	0.56077	0.1961	N	0.25890	0.77	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.35599	-0.9782	10	0.10377	T	0.69	-4.2789	6.986	0.24729	0.2867:0.0:0.7133:0.0	.	652	Q8IU68	TMC8_HUMAN	Q	652	ENSP00000325561:E652Q	ENSP00000325561:E652Q	E	+	1	0	TMC8	73648561	0.051000	0.20477	0.000000	0.03702	0.016000	0.09150	2.284000	0.43478	0.252000	0.21531	0.555000	0.69702	GAG		0.682	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3				3	34	0	0	0	0.009096	0	3	34		
DNAH17	8632	broad.mit.edu	37	17	76548800	76548800	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:76548800T>C	ENST00000585328.1	-	15	2390	c.2266A>G	c.(2266-2268)Aca>Gca	p.T756A	DNAH17_ENST00000389840.5_Missense_Mutation_p.T756A	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	756	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATAATGTCGTTTCAGCG	0.428																																						uc002jvv.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(1372-1374)ACA>GCA		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							215.0	214.0	215.0					17																	76548800		2202	4300	6502	SO:0001583	missense	8632							g.chr17:76548800T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2266A>G	17.37:g.76548800T>C	ENSP00000465516:p.Thr756Ala						p.T458A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		11	1478	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1372A>G		.	.	.	.	.	.	.	.	.	.	T	0.430	-0.903722	0.02453	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55413	0.52	4.94	4.94	0.65067	.	.	.	.	.	T	0.48537	0.1505	L	0.60455	1.87	0.09310	N	1	B	0.24675	0.109	B	0.33042	0.157	T	0.42882	-0.9425	9	0.11794	T	0.64	.	9.1915	0.37202	0.1618:0.0:0.0:0.8382	.	458	Q9UFH2-4	.	A	756	ENSP00000374490:T756A	ENSP00000300671:T756A	T	-	1	0	DNAH17	74060395	0.972000	0.33761	0.040000	0.18447	0.045000	0.14185	2.635000	0.46537	1.819000	0.53055	0.460000	0.39030	ACA		0.428	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		11	279	0	0	0	0.000978	0	11	279		
ABHD3	171586	broad.mit.edu	37	18	19239256	19239256	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:19239256C>T	ENST00000289119.2	-	6	856	c.717G>A	c.(715-717)ttG>ttA	p.L239L	ABHD3_ENST00000578270.1_Silent_p.L44L|RP11-13N13.5_ENST00000584148.1_RNA|ABHD3_ENST00000580981.1_Silent_p.L186L	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	239						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CAGCTGCCATCAAAGGCGTTT	0.393																																						uc002ktl.2		NaN																	0				central_nervous_system(1)	1						c.(715-717)TTG>TTA		alpha/beta hydrolase domain containing protein							88.0	88.0	88.0					18																	19239256		2203	4300	6503	SO:0001819	synonymous_variant	171586					integral to membrane	carboxylesterase activity	g.chr18:19239256C>T	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.717G>A	18.37:g.19239256C>T						ABHD3_uc002ktm.2_Silent_p.L186L|ABHD3_uc010xao.1_RNA|ABHD3_uc002ktk.2_Silent_p.L44L|ABHD3_uc002ktn.2_Silent_p.L16L	p.L239L	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN			6	857	-			239					B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	c.717G>A	CCDS32802.1																																																																																				0.393	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1				7	108	0	0	0	0.001984	0	7	108		
SLC39A6	25800	broad.mit.edu	37	18	33706705	33706705	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:33706705C>G	ENST00000590986.1	-	2	555	c.266G>C	c.(265-267)aGa>aCa	p.R89T	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.R89T			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	89					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TATATGGATTCTTTTAATCTT	0.413																																						uc010dmy.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(265-267)AGA>ACA		solute carrier family 39 (zinc transporter),							165.0	153.0	157.0					18																	33706705		2022	4173	6195	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706705C>G	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.266G>C	18.37:g.33706705C>G	ENSP00000465915:p.Arg89Thr					SLC39A6_uc002kzj.2_Intron	p.R89T	NM_012319	NP_036451	Q13433	S39A6_HUMAN			2	556	-			89			Extracellular (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.266G>C	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511281	0.44660	.	.	ENSG00000141424	ENST00000269187	T	0.48522	0.81	5.56	4.66	0.58398	.	0.160472	0.56097	D	0.000039	T	0.36386	0.0965	L	0.36672	1.1	0.80722	D	1	B	0.23058	0.079	B	0.21917	0.037	T	0.12016	-1.0564	10	0.22706	T	0.39	-11.6141	11.4216	0.49985	0.0:0.9082:0.0:0.0918	.	89	Q13433	S39A6_HUMAN	T	89	ENSP00000269187:R89T	ENSP00000269187:R89T	R	-	2	0	SLC39A6	31960703	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.317000	0.43770	1.293000	0.44690	0.561000	0.74099	AGA		0.413	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1				4	27	0	0	0	0.009096	0	4	27		
SYT4	6860	broad.mit.edu	37	18	40850420	40850420	+	Silent	SNP	G	G	A	rs117568424	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:40850420G>A	ENST00000255224.3	-	4	1532	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	SYT4_ENST00000590752.1_Silent_p.I370I|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	388	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTAACTGCCCGATTACCTCAT	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		17898	0.0		0.002	False		,,,				2504	0.0				NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NaN																	0				skin(5)	5						c.(1162-1164)ATC>ATT		synaptotagmin IV		G		1,4405	2.1+/-5.4	0,1,2202	133.0	130.0	131.0		1164	-7.7	0.8	18	dbSNP_132	131	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	SYT4	NM_020783.3		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		388/426	40850420	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850420G>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1164C>T	18.37:g.40850420G>A						SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.I370I|SYT4_uc010dnh.2_RNA	p.I388I	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			4	1533	-			388			C2 2.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.1164C>T	CCDS11922.1																																																																																				0.473	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2		NM_020783		6	145	0	0	0	0.001168	0	6	145		
ACAA2	10449	broad.mit.edu	37	18	47320775	47320775	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:47320775G>A	ENST00000285093.10	-	5	927	c.452C>T	c.(451-453)tCa>tTa	p.S151L	ACAA2_ENST00000589432.1_Missense_Mutation_p.S96L|ACAA2_ENST00000587994.1_Missense_Mutation_p.S148L	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	151					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						ATCTGTTAATGATACCCATAA	0.328																																						uc002ldw.3		NaN																	0				ovary(1)	1						c.(451-453)TCA>TTA		acetyl-coenzyme A acyltransferase 2							63.0	54.0	57.0					18																	47320775		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47320775G>A	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.452C>T	18.37:g.47320775G>A	ENSP00000285093:p.Ser151Leu					ACAA2_uc002ldx.3_Missense_Mutation_p.S148L	p.S151L	NM_006111	NP_006102	P42765	THIM_HUMAN			5	849	-			151					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.452C>T	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	G	9.755	1.168501	0.21621	.	.	ENSG00000167315	ENST00000285093	D	0.90676	-2.71	5.57	-7.6	0.01303	Thiolase, N-terminal (1);Thiolase-like (1);	0.570674	0.20238	N	0.096335	T	0.80711	0.4675	N	0.02842	-0.48	0.09310	N	1	B;B	0.26318	0.064;0.146	B;B	0.29440	0.079;0.102	T	0.48980	-0.8986	10	0.87932	D	0	3.2502	28.8086	0.99999	0.0:0.6539:0.3461:0.0	.	151;151	B2RB23;P42765	.;THIM_HUMAN	L	151	ENSP00000285093:S151L	ENSP00000285093:S151L	S	-	2	0	ACAA2	45574773	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.318000	0.19504	-1.196000	0.02676	-1.113000	0.02065	TCA		0.328	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2		NM_006111		3	44	0	0	0	0.009096	0	3	44		
ZNF407	55628	broad.mit.edu	37	18	72343115	72343115	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343115C>T	ENST00000299687.5	+	1	140	c.140C>T	c.(139-141)tCt>tTt	p.S47F	ZNF407_ENST00000577538.1_Missense_Mutation_p.S47F|ZNF407_ENST00000582337.1_Missense_Mutation_p.S47F|ZNF407_ENST00000309902.6_Missense_Mutation_p.S47F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCTGAGAATTCTATGGGCAAA	0.388																																						uc002llw.2		NaN																	0				ovary(2)	2						c.(139-141)TCT>TTT		zinc finger protein 407 isoform 1							81.0	78.0	79.0					18																	72343115		1834	4092	5926	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343115C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.140C>T	18.37:g.72343115C>T	ENSP00000299687:p.Ser47Phe					ZNF407_uc010xfc.1_Missense_Mutation_p.S47F|ZNF407_uc010dqu.1_Missense_Mutation_p.S47F|ZNF407_uc002llu.2_Missense_Mutation_p.S46F	p.S47F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	197	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	47					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.140C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	4.660	0.122719	0.08931	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09723	2.95;3.4	5.43	3.28	0.37604	.	.	.	.	.	T	0.05456	0.0144	N	0.11560	0.145	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.40924	-0.9537	9	0.34782	T	0.22	.	4.9109	0.13821	0.0:0.3371:0.4842:0.1787	.	47;47;47	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	F	47	ENSP00000299687:S47F;ENSP00000310359:S47F	ENSP00000299687:S47F	S	+	2	0	ZNF407	70472103	0.021000	0.18746	0.008000	0.14137	0.021000	0.10359	1.420000	0.34804	0.329000	0.23460	-0.242000	0.12053	TCT		0.388	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		3	33	0	0	0	0.004672	0	3	33		
ZNF407	55628	broad.mit.edu	37	18	72343658	72343658	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343658C>T	ENST00000299687.5	+	1	683	c.683C>T	c.(682-684)tCa>tTa	p.S228L	ZNF407_ENST00000577538.1_Missense_Mutation_p.S228L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S228L|ZNF407_ENST00000309902.6_Missense_Mutation_p.S228L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGAGCAGCTCAGCACTACAT	0.438																																						uc002llw.2		NaN																	0				ovary(2)	2						c.(682-684)TCA>TTA		zinc finger protein 407 isoform 1							158.0	163.0	162.0					18																	72343658		2091	4230	6321	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343658C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.683C>T	18.37:g.72343658C>T	ENSP00000299687:p.Ser228Leu					ZNF407_uc010xfc.1_Missense_Mutation_p.S228L|ZNF407_uc010dqu.1_Missense_Mutation_p.S228L|ZNF407_uc002llu.2_Missense_Mutation_p.S227L	p.S228L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	740	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	228			C2H2-type 2.		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.683C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723600	0.30593	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.17691	2.26;2.26	5.49	1.75	0.24633	Zinc finger, C2H2-like (1);	0.404420	0.15872	U	0.240503	T	0.18635	0.0447	M	0.69463	2.115	0.09310	N	1	B;B;B	0.14438	0.005;0.01;0.003	B;B;B	0.12156	0.007;0.006;0.001	T	0.41034	-0.9531	10	0.27785	T	0.31	.	9.576	0.39459	0.0:0.7439:0.0:0.2561	.	228;228;228	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	228	ENSP00000299687:S228L;ENSP00000310359:S228L	ENSP00000299687:S228L	S	+	2	0	ZNF407	70472646	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.578000	0.23773	-2.379000	0.00595	-0.316000	0.08728	TCA		0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		17	151	0	0	0	0.004007	0	17	151		
ZNF407	55628	broad.mit.edu	37	18	72343946	72343946	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343946G>A	ENST00000299687.5	+	1	971	c.971G>A	c.(970-972)gGa>gAa	p.G324E	ZNF407_ENST00000577538.1_Missense_Mutation_p.G324E|ZNF407_ENST00000582337.1_Missense_Mutation_p.G324E|ZNF407_ENST00000309902.6_Missense_Mutation_p.G324E	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGAAATGTGGGAAGCACGTTT	0.343																																						uc002llw.2		NaN																	0				ovary(2)	2						c.(970-972)GGA>GAA		zinc finger protein 407 isoform 1							124.0	127.0	126.0					18																	72343946		1843	4091	5934	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343946G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.971G>A	18.37:g.72343946G>A	ENSP00000299687:p.Gly324Glu					ZNF407_uc010xfc.1_Missense_Mutation_p.G324E|ZNF407_uc010dqu.1_Missense_Mutation_p.G324E|ZNF407_uc002llu.2_Missense_Mutation_p.G323E	p.G324E	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1028	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	324					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.971G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528531	0.44969	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09445	2.98;3.39	5.3	2.47	0.30058	.	0.814190	0.09436	U	0.802459	T	0.10594	0.0259	L	0.46157	1.445	0.09310	N	1	B;B;B	0.23806	0.091;0.023;0.055	B;B;B	0.22386	0.039;0.039;0.018	T	0.33675	-0.9859	10	0.40728	T	0.16	.	6.3893	0.21577	0.2671:0.1317:0.6012:0.0	.	324;324;324	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	E	324	ENSP00000299687:G324E;ENSP00000310359:G324E	ENSP00000299687:G324E	G	+	2	0	ZNF407	70472934	0.001000	0.12720	0.016000	0.15963	0.111000	0.19643	0.379000	0.20585	0.434000	0.26340	0.533000	0.62120	GGA		0.343	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		10	114	0	0	0	0.001368	0	10	114		
ELAVL1	1994	broad.mit.edu	37	19	8056716	8056716	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:8056716C>G	ENST00000407627.2	-	2	114		c.e2-1		ELAVL1_ENST00000351593.5_Splice_Site|ELAVL1_ENST00000593807.1_Splice_Site|ELAVL1_ENST00000596459.1_Splice_Site	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1						3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTCAAAAATCTGCCAAGAGA	0.378																																						uc002mjb.2		NaN																	0					0						c.e2-1		ELAV-like 1							62.0	60.0	61.0					19																	8056716		2203	4300	6503	SO:0001630	splice_region_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8056716C>G	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.16-1G>C	19.37:g.8056716C>G								NM_001419	NP_001410	Q15717	ELAV1_HUMAN			2	152	-								B4DVB8|Q53XN6|Q9BTT1	Splice_Site	SNP	ENST00000407627.2	37	c.-15_splice	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332736	0.60853	.	.	ENSG00000066044	ENST00000351593	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.133	0.59393	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELAVL1	7962716	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	5.383000	0.66219	2.251000	0.74343	0.655000	0.94253	.		0.378	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3		NM_001419	Intron	6	30	0	0	0	0.001984	0	6	30		
CC2D1A	54862	broad.mit.edu	37	19	14028882	14028882	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14028882G>A	ENST00000318003.7	+	7	989		c.e7-1		CC2D1A_ENST00000589606.1_Splice_Site	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CTCCCTTCCAGGTCCCTGCAG	0.527																																						uc002mxo.2		NaN																	0					0						c.e7-1		coiled-coil and C2 domain containing 1A							29.0	34.0	32.0					19																	14028882		1904	4123	6027	SO:0001630	splice_region_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14028882G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.749-1G>A	19.37:g.14028882G>A						CC2D1A_uc002mxn.2_Splice_Site_p.G149_splice|CC2D1A_uc002mxp.2_Splice_Site_p.G250_splice|CC2D1A_uc010dzh.2_Splice_Site|CC2D1A_uc002mxq.1_5'Flank	p.G250_splice	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		7	1048	+								Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Splice_Site	SNP	ENST00000318003.7	37	c.749_splice	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358762	0.41801	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486;ENST00000389233	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3006	0.66346	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CC2D1A	13889882	1.000000	0.71417	0.966000	0.40874	0.400000	0.30750	3.889000	0.56212	2.513000	0.84729	0.650000	0.86243	.		0.527	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1		NM_017721	Intron	7	42	0	0	0	0.006214	0	7	42		
OR7C1	26664	broad.mit.edu	37	19	14910386	14910386	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910386G>A	ENST00000248073.2	-	1	637	c.563C>T	c.(562-564)gCc>gTc	p.A188V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	188					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GTCAGAACAGGCGAGCTTCAG	0.423																																						uc010xnz.1		NaN																	0				ovary(2)	2						c.(562-564)GCC>GTC		olfactory receptor, family 7, subfamily C,							96.0	96.0	96.0					19																	14910386		2203	4300	6503	SO:0001583	missense	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910386G>A	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.563C>T	19.37:g.14910386G>A	ENSP00000248073:p.Ala188Val						p.A188V	NM_198944	NP_945182	O76099	OR7C1_HUMAN			1	563	-			188			Extracellular (Potential).		Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	c.563C>T	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	g	19.63	3.863110	0.71949	.	.	ENSG00000127530	ENST00000248073	T	0.00183	8.6	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.752143	0.10714	U	0.642541	T	0.00580	0.0019	M	0.81802	2.56	0.09310	N	0.999999	D	0.67145	0.996	D	0.67900	0.954	T	0.54768	-0.8244	10	0.87932	D	0	.	13.18	0.59649	0.0:0.0:1.0:0.0	.	188	O76099	OR7C1_HUMAN	V	188	ENSP00000248073:A188V	ENSP00000248073:A188V	A	-	2	0	OR7C1	14771386	0.007000	0.16637	0.224000	0.23877	0.045000	0.14185	1.480000	0.35464	2.024000	0.59613	0.543000	0.68304	GCC		0.423	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1				8	113	0	0	0	0.000978	0	8	113		
OR7C1	26664	broad.mit.edu	37	19	14910475	14910475	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910475G>C	ENST00000248073.2	-	1	548	c.474C>G	c.(472-474)ctC>ctG	p.L158L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	158					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TCAAGGTCTCGAGCAGGGAAC	0.522																																						uc010xnz.1		NaN																	0				ovary(2)	2						c.(472-474)CTC>CTG		olfactory receptor, family 7, subfamily C,							130.0	128.0	129.0					19																	14910475		2203	4300	6503	SO:0001819	synonymous_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910475G>C	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.474C>G	19.37:g.14910475G>C							p.L158L	NM_198944	NP_945182	O76099	OR7C1_HUMAN			1	474	-			158			Helical; Name=4; (Potential).		Q15621|Q6IFP2|Q96R94	Silent	SNP	ENST00000248073.2	37	c.474C>G	CCDS12317.1																																																																																				0.522	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1				8	157	0	0	0	0.004482	0	8	157		
OR7C1	26664	broad.mit.edu	37	19	14910879	14910879	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910879G>T	ENST00000248073.2	-	1	144	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	24					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGAATGAACTGAATCTCTGAC	0.468																																						uc010xnz.1		NaN																	0				ovary(2)	2						c.(70-72)CAG>AAG		olfactory receptor, family 7, subfamily C,							94.0	87.0	90.0					19																	14910879		2203	4300	6503	SO:0001583	missense	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910879G>T	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.70C>A	19.37:g.14910879G>T	ENSP00000248073:p.Gln24Lys						p.Q24K	NM_198944	NP_945182	O76099	OR7C1_HUMAN			1	70	-			24			Extracellular (Potential).		Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	c.70C>A	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	g	14.67	2.606184	0.46527	.	.	ENSG00000127530	ENST00000248073	T	0.00591	6.35	3.77	1.52	0.23074	.	0.000000	0.35124	U	0.003437	T	0.00998	0.0033	M	0.67625	2.065	0.09310	N	1	P	0.47841	0.901	P	0.45681	0.49	T	0.46596	-0.9180	10	0.62326	D	0.03	.	10.3371	0.43856	0.0:0.0:0.6463:0.3537	.	24	O76099	OR7C1_HUMAN	K	24	ENSP00000248073:Q24K	ENSP00000248073:Q24K	Q	-	1	0	OR7C1	14771879	0.008000	0.16893	0.001000	0.08648	0.004000	0.04260	0.359000	0.20233	0.366000	0.24427	0.537000	0.68136	CAG		0.468	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1				6	159	1	0	3.59834e-05	0.001168	3.78812e-05	6	159		
OR7A17	26333	broad.mit.edu	37	19	14992003	14992003	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14992003G>C	ENST00000327462.2	-	1	261	c.165C>G	c.(163-165)ctC>ctG	p.L55L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGGGGGTGTGGAGGTGGGAGT	0.498																																						uc010xob.1		NaN																	0					0						c.(163-165)CTC>CTG		olfactory receptor, family 7, subfamily A,							72.0	63.0	66.0					19																	14992003		2203	4297	6500	SO:0001819	synonymous_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14992003G>C	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.165C>G	19.37:g.14992003G>C							p.L55L	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	165	-	Ovarian(108;0.203)		55			Helical; Name=2; (Potential).		Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	c.165C>G	CCDS12319.1																																																																																				0.498	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1		NM_030901		6	81	0	0	0	0.00308	0	6	81		
AKAP8L	26993	broad.mit.edu	37	19	15508413	15508413	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:15508413C>T	ENST00000397410.5	-	11	1453	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.K380K	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	441						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCTGTCTTCTTGGTCTTGT	0.502																																						uc002naw.1		NaN																	0				ovary(1)	1						c.(1321-1323)AAG>AAA		A kinase (PRKA) anchor protein 8-like							157.0	149.0	151.0					19																	15508413		1964	4143	6107	SO:0001819	synonymous_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15508413C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1323G>A	19.37:g.15508413C>T						AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Silent_p.K380K	p.K441K	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			11	1422	-			441					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	c.1323G>A	CCDS46005.1																																																																																				0.502	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371		5	38	0	0	0	0.001984	0	5	38		
CRLF1	9244	broad.mit.edu	37	19	18709341	18709341	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709341C>T	ENST00000392386.3	-	4	791	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	200	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGAGCCAGGTCCTTGGGGATG	0.622																																						uc010ebt.1		NaN																	0				central_nervous_system(1)	1						c.(598-600)GAC>AAC		cytokine receptor-like factor 1 precursor							138.0	125.0	129.0					19																	18709341		2203	4300	6503	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709341C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.598G>A	19.37:g.18709341C>T	ENSP00000376188:p.Asp200Asn						p.D200N	NM_004750	NP_004741	O75462	CRLF1_HUMAN			4	792	-			200			Fibronectin type-III 1.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.598G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824588	0.50739	.	.	ENSG00000006016	ENST00000392386	D	0.84516	-1.86	4.81	4.81	0.61882	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.046886	0.85682	D	0.000000	T	0.78253	0.4254	L	0.38175	1.15	0.48288	D	0.999628	B	0.32862	0.387	B	0.27500	0.08	T	0.76460	-0.2951	10	0.29301	T	0.29	-49.9092	16.808	0.85710	0.0:1.0:0.0:0.0	.	200	O75462	CRLF1_HUMAN	N	200	ENSP00000376188:D200N	ENSP00000376188:D200N	D	-	1	0	CRLF1	18570341	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	3.257000	0.51500	2.385000	0.81259	0.313000	0.20887	GAC		0.622	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1				13	148	0	0	0	0.007413	0	13	148		
CRLF1	9244	broad.mit.edu	37	19	18709383	18709383	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709383C>T	ENST00000392386.3	-	4	749	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	186	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTGTGGTACTCCTCACATGTG	0.632																																						uc010ebt.1		NaN																	0				central_nervous_system(1)	1						c.(556-558)GAG>AAG		cytokine receptor-like factor 1 precursor							124.0	106.0	112.0					19																	18709383		2203	4300	6503	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709383C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.556G>A	19.37:g.18709383C>T	ENSP00000376188:p.Glu186Lys						p.E186K	NM_004750	NP_004741	O75462	CRLF1_HUMAN			4	750	-			186			Fibronectin type-III 1.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.556G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725706	0.30593	.	.	ENSG00000006016	ENST00000392386	T	0.35605	1.3	4.81	4.81	0.61882	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.267468	0.41294	D	0.000904	T	0.25344	0.0616	N	0.16743	0.435	0.35342	D	0.786561	B	0.34372	0.451	B	0.35727	0.209	T	0.24977	-1.0145	10	0.18276	T	0.48	-30.8826	16.808	0.85710	0.0:1.0:0.0:0.0	.	186	O75462	CRLF1_HUMAN	K	186	ENSP00000376188:E186K	ENSP00000376188:E186K	E	-	1	0	CRLF1	18570383	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.223000	0.51231	2.385000	0.81259	0.313000	0.20887	GAG		0.632	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1				20	150	0	0	0	0.001882	0	20	150		
CRLF1	9244	broad.mit.edu	37	19	18709656	18709656	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709656C>G	ENST00000392386.3	-	3	646	c.453G>C	c.(451-453)ttG>ttC	p.L151F		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	151	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCGGCAGGTCAAGTCCTTCA	0.607																																						uc010ebt.1		NaN																	0				central_nervous_system(1)	1						c.(451-453)TTG>TTC		cytokine receptor-like factor 1 precursor							99.0	85.0	90.0					19																	18709656		2203	4300	6503	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709656C>G	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.453G>C	19.37:g.18709656C>G	ENSP00000376188:p.Leu151Phe						p.L151F	NM_004750	NP_004741	O75462	CRLF1_HUMAN			3	647	-			151			Fibronectin type-III 1.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.453G>C	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492757	0.64074	.	.	ENSG00000006016	ENST00000392386	T	0.80824	-1.42	5.3	-1.47	0.08772	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.77870	0.4195	N	0.25060	0.705	0.45979	D	0.998794	D	0.89917	1.0	D	0.87578	0.998	T	0.71381	-0.4610	10	0.11794	T	0.64	-25.2118	12.6307	0.56655	0.0:0.3484:0.5812:0.0704	.	151	O75462	CRLF1_HUMAN	F	151	ENSP00000376188:L151F	ENSP00000376188:L151F	L	-	3	2	CRLF1	18570656	1.000000	0.71417	0.749000	0.31150	0.804000	0.45430	1.119000	0.31258	-0.349000	0.08274	0.313000	0.20887	TTG		0.607	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1				8	90	0	0	0	0.000978	0	8	90		
C19orf12	83636	broad.mit.edu	37	19	30199175	30199175	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:30199175G>A	ENST00000392278.2	-	2	305	c.179C>T	c.(178-180)cCg>cTg	p.P60L	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.P49L|C19orf12_ENST00000323670.9_Missense_Mutation_p.P49L	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	60			P -> L (in NBIA4). {ECO:0000269|PubMed:23269600}.		cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GGCGAGTCCCGGTGGGCCGCC	0.617																																						uc002nsk.2		NaN																	0					0						c.(145-147)CCG>CTG		hypothetical protein LOC83636 isoform 2							46.0	52.0	50.0					19																	30199175		1911	4097	6008	SO:0001583	missense	83636					integral to membrane		g.chr19:30199175G>A	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.179C>T	19.37:g.30199175G>A	ENSP00000376103:p.Pro60Leu					C19orf12_uc002nsj.2_Missense_Mutation_p.P60L|C19orf12_uc002nsl.2_Intron|C19orf12_uc002nsm.2_RNA	p.P49L	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		2	577	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		49			Helical; (Potential).		B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	37	c.146C>T	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000214	0.19121	.	.	ENSG00000131943	ENST00000323670;ENST00000392278;ENST00000342680	D;D;D	0.82255	-1.59;-1.59;-1.59	6.07	6.07	0.98685	.	0.272830	0.37053	N	0.002271	T	0.77718	0.4172	L	0.48362	1.52	0.80722	D	1	P;P	0.47841	0.901;0.49	B;B	0.36766	0.232;0.05	T	0.75855	-0.3170	10	0.23302	T	0.38	-23.6409	19.6321	0.95713	0.0:0.0:1.0:0.0	.	49;60	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	L	49;60;49	ENSP00000313332:P49L;ENSP00000376103:P60L;ENSP00000345497:P49L	ENSP00000313332:P49L	P	-	2	0	C19orf12	34891015	0.999000	0.42202	0.370000	0.25965	0.006000	0.05464	2.974000	0.49272	2.884000	0.98904	0.655000	0.94253	CCG		0.617	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2		NM_031448		23	106	0	0	0	0.002836	0	23	106		
RGS9BP	388531	broad.mit.edu	37	19	33167295	33167295	+	Missense_Mutation	SNP	G	G	C	rs377440458		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:33167295G>C	ENST00000334176.3	+	1	983	c.126G>C	c.(124-126)aaG>aaC	p.K42N	ANKRD27_ENST00000587352.1_5'Flank|ANKRD27_ENST00000306065.4_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	42					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGCTGCAAAAGACGCGCCAGA	0.701																																						uc002ntp.1		NaN																	0				central_nervous_system(1)	1						c.(124-126)AAG>AAC		RGS9 anchor protein		G	ASN/LYS	0,4328		0,0,2164	18.0	17.0	17.0		126	2.5	1.0	19		17	3,8503		0,3,4250	no	missense	RGS9BP	NM_207391.2	94	0,3,6414	CC,CG,GG		0.0353,0.0,0.0234	possibly-damaging	42/236	33167295	3,12831	2164	4253	6417	SO:0001583	missense	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167295G>C	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.126G>C	19.37:g.33167295G>C	ENSP00000334134:p.Lys42Asn					ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	p.K42N	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN			1	983	+	Esophageal squamous(110;0.137)		42			Potential.|Cytoplasmic (Potential).		Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	c.126G>C	CCDS12424.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165638	0.38217	0.0	3.53E-4	ENSG00000186326	ENST00000334176	T	0.32988	1.43	4.63	2.48	0.30137	.	0.272343	0.35407	N	0.003228	T	0.29093	0.0723	M	0.65975	2.015	0.54753	D	0.999989	B	0.14438	0.01	B	0.14023	0.01	T	0.11060	-1.0603	10	0.66056	D	0.02	-11.1185	6.9308	0.24439	0.157:0.0:0.6893:0.1537	.	42	Q6ZS82	R9BP_HUMAN	N	42	ENSP00000334134:K42N	ENSP00000334134:K42N	K	+	3	2	RGS9BP	37859135	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	1.442000	0.35046	0.512000	0.28257	0.305000	0.20034	AAG		0.701	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1		NM_207391		3	27	0	0	0	0.004672	0	3	27		
ZFP30	22835	broad.mit.edu	37	19	38126715	38126715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:38126715C>T	ENST00000351218.2	-	6	1284	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ZFP30_ENST00000392144.1_Missense_Mutation_p.E243K|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.E243K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	243					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTTACATTCATACGGCTTC	0.388																																						uc002ogv.1		NaN																	0					0						c.(727-729)GAA>AAA		zinc finger protein 30 homolog							81.0	81.0	81.0					19																	38126715		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126715C>T	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.727G>A	19.37:g.38126715C>T	ENSP00000343581:p.Glu243Lys					ZFP30_uc002ogw.1_Missense_Mutation_p.E243K|ZFP30_uc002ogx.1_Missense_Mutation_p.E243K|ZFP30_uc010xtt.1_Missense_Mutation_p.E242K	p.E243K	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1243	-			243			C2H2-type 4.		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.727G>A	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140847	0.21205	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144	T;T;T	0.06608	3.28;3.28;3.28	3.99	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.701986	0.11672	N	0.540734	T	0.01905	0.0060	N	0.01874	-0.695	0.09310	N	1	B;B	0.22480	0.07;0.07	B;B	0.24155	0.051;0.051	T	0.47824	-0.9087	10	0.11794	T	0.64	.	1.2695	0.02018	0.2135:0.4194:0.2074:0.1598	.	243;243	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	K	243	ENSP00000343581:E243K;ENSP00000422930:E243K;ENSP00000375988:E243K	ENSP00000343581:E243K	E	-	1	0	ZFP30	42818555	0.000000	0.05858	0.869000	0.34112	0.875000	0.50365	-2.705000	0.00821	1.010000	0.39314	-0.165000	0.13383	GAA		0.388	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2		NM_014898		19	52	0	0	0	0.010504	0	19	52		
KCNK6	9424	broad.mit.edu	37	19	38817601	38817601	+	Missense_Mutation	SNP	C	C	T	rs553235571		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:38817601C>T	ENST00000263372.3	+	2	798	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	231					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCAGCCCTACCGGGCCCTCTA	0.627																																						uc002oic.2		NaN																	0				ovary(1)	1						c.(691-693)CGG>TGG		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						61.0	68.0	65.0					19																	38817601		2203	4299	6502	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817601C>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.691C>T	19.37:g.38817601C>T	ENSP00000263372:p.Arg231Trp					KCNK6_uc002oid.2_Missense_Mutation_p.R97W	p.R231W	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	801	+	all_cancers(60;5.83e-07)		231					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.691C>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240856	0.58995	.	.	ENSG00000099337	ENST00000263372	T	0.24350	1.86	5.45	3.13	0.36017	Ion transport 2 (1);	0.234460	0.42682	N	0.000673	T	0.41259	0.1151	L	0.49126	1.545	0.47511	D	0.999445	D	0.89917	1.0	D	0.91635	0.999	T	0.25984	-1.0116	10	0.66056	D	0.02	.	9.7956	0.40733	0.1491:0.7664:0.0:0.0845	.	231	Q9Y257	KCNK6_HUMAN	W	231	ENSP00000263372:R231W	ENSP00000263372:R231W	R	+	1	2	KCNK6	43509441	0.559000	0.26562	0.988000	0.46212	0.623000	0.37688	0.883000	0.28200	1.313000	0.45069	0.561000	0.74099	CGG		0.627	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1		NM_004823		16	125	0	0	0	0.00499	0	16	125		
PLEKHG2	64857	broad.mit.edu	37	19	39915786	39915786	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:39915786C>T	ENST00000409794.3	+	19	4863	c.4013C>T	c.(4012-4014)aCg>aTg	p.T1338M	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.T1309M|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1338					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TATGCCACGACGGTTAACATC	0.692																																						uc010xuz.1		NaN																	0				skin(2)|pancreas(1)|breast(1)	4						c.(4012-4014)ACG>ATG		common-site lymphoma/leukemia guanine nucleotide							12.0	14.0	13.0					19																	39915786		2085	4167	6252	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915786C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.4013C>T	19.37:g.39915786C>T	ENSP00000386733:p.Thr1338Met					PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.T1116M	p.T1338M	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	4338	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1338					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.4013C>T	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.013283|2.013283	0.35511|0.35511	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673	.|T;T	.|0.75050	.|-0.84;-0.9	4.6|4.6	3.57|3.57	0.40892|0.40892	.|.	.|0.000000	.|0.41823	.|D	.|0.000809	T|T	0.80633|0.80633	0.4660|0.4660	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.63703	.|0.917;0.828	T|T	0.79296|0.79296	-0.1862|-0.1862	5|9	.|.	.|.	.|.	.|.	8.4445|8.4445	0.32834|0.32834	0.0:0.8942:0.0:0.1058|0.0:0.8942:0.0:0.1058	.|.	.|1309;1338	.|Q9H7P9-3;Q9H7P9	.|.;PKHG2_HUMAN	W|M	1206|1338;1309	.|ENSP00000386733:T1338M;ENSP00000392906:T1309M	.|.	R|T	+|+	1|2	2|0	PLEKHG2|PLEKHG2	44607626|44607626	0.992000|0.992000	0.36948|0.36948	0.661000|0.661000	0.29709|0.29709	0.011000|0.011000	0.07611|0.07611	3.023000|3.023000	0.49666|0.49666	1.177000|1.177000	0.42855|0.42855	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG		0.692	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1		NM_022835		4	40	0	0	0	0.000602	0	4	40		
ATP1A3	478	broad.mit.edu	37	19	42490310	42490310	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:42490310C>T	ENST00000302102.5	-	5	579	c.429G>A	c.(427-429)aaG>aaA	p.K143K	ATP1A3_ENST00000602133.1_Silent_p.K113K|ATP1A3_ENST00000543770.1_Silent_p.K154K|ATP1A3_ENST00000545399.1_Silent_p.K156K|ATP1A3_ENST00000468774.2_5'Flank	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	143					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCTTGGAGCTCTTGGCCTCCT	0.607																																						uc002osg.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(427-429)AAG>AAA		Na+/K+ -ATPase alpha 3 subunit							97.0	87.0	91.0					19																	42490310		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42490310C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.429G>A	19.37:g.42490310C>T						ATP1A3_uc010xwf.1_Silent_p.K154K|ATP1A3_uc010xwg.1_Silent_p.K113K|ATP1A3_uc010xwh.1_Silent_p.K156K|ATP1A3_uc002osh.2_Silent_p.K143K	p.K143K	NM_152296	NP_689509	P13637	AT1A3_HUMAN			5	583	-			143			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.429G>A	CCDS12594.1																																																																																				0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1		NM_152296		15	155	0	0	0	0.006122	0	15	155		
PSG8	440533	broad.mit.edu	37	19	43259327	43259327	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:43259327C>A	ENST00000306511.4	-	4	898	c.801G>T	c.(799-801)gaG>gaT	p.E267D	PSG8_ENST00000404209.4_Missense_Mutation_p.E267D|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.E145D|PSG8_ENST00000401467.2_Missense_Mutation_p.E174D	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	267	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGTGTAGTTCTCACTCTTAG	0.483																																						uc002ouo.2		NaN																	0					0						c.(799-801)GAG>GAT		pregnancy specific beta-1-glycoprotein 8 isoform							116.0	119.0	118.0					19																	43259327		2203	4296	6499	SO:0001583	missense	440533					extracellular region		g.chr19:43259327C>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.801G>T	19.37:g.43259327C>A	ENSP00000305005:p.Glu267Asp					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.E106D|PSG8_uc002ouh.2_Missense_Mutation_p.E267D|PSG8_uc010ein.2_Missense_Mutation_p.E145D|PSG8_uc002ouj.3_Missense_Mutation_p.E49D|PSG8_uc002ouk.3_Missense_Mutation_p.E106D|PSG8_uc002oul.3_Missense_Mutation_p.E267D|PSG8_uc002oum.3_Missense_Mutation_p.E174D|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.E174D	p.E267D	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	899	-		Prostate(69;0.00899)	267			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.801G>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	7.077	0.569372	0.13560	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	1.26	-1.44	0.08856	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06142	0.0159	N	0.20401	0.57	0.09310	N	1	B;B;P;B;B;B	0.39131	0.035;0.011;0.661;0.254;0.214;0.254	B;B;B;B;B;B	0.38803	0.06;0.014;0.282;0.155;0.185;0.282	T	0.32268	-0.9913	9	0.45353	T	0.12	.	3.9781	0.09483	0.0:0.4819:0.0:0.5181	.	145;174;267;174;267;267	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	D	267;145;174;79;174;267	ENSP00000385869:E267D;ENSP00000385081:E145D;ENSP00000386090:E174D;ENSP00000305005:E267D	ENSP00000305005:E267D	E	-	3	2	PSG8	47951167	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.711000	0.05019	-0.168000	0.10853	-0.708000	0.03648	GAG		0.483	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1				17	253	1	0	4.59853e-10	0.005443	5.02115e-10	17	253		
ZNF285	26974	broad.mit.edu	37	19	44891132	44891132	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:44891132C>T	ENST00000330997.4	-	4	1339	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	ZNF285_ENST00000544719.2_Silent_p.E425E|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.E432E	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TATATGGTTTCTCCCCTGTGT	0.493																																						uc002ozd.3		NaN																	0				ovary(2)|skin(2)	4						c.(1273-1275)GAG>GAA		zinc finger protein 285							58.0	55.0	56.0					19																	44891132		2203	4300	6503	SO:0001819	synonymous_variant	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891132C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1275G>A	19.37:g.44891132C>T						ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.E432E	p.E425E	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1362	-			425					Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.1275G>A	CCDS12638.1																																																																																				0.493	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1		NM_152354		8	67	0	0	0	0.006214	0	8	67		
CLASRP	11129	broad.mit.edu	37	19	45563675	45563675	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:45563675G>A	ENST00000221455.3	+	9	837	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CLASRP_ENST00000544944.2_Missense_Mutation_p.E247K|CLASRP_ENST00000391953.4_Missense_Mutation_p.E185K	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	247					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGAGGAGGCAGAGGCCATCAA	0.587																																						uc002pak.2		NaN																	0					0						c.(739-741)GAG>AAG		splicing factor, arginine/serine-rich 16							118.0	98.0	105.0					19																	45563675		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45563675G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.739G>A	19.37:g.45563675G>A	ENSP00000221455:p.Glu247Lys					SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.E185K|SFRS16_uc002pam.2_Missense_Mutation_p.E247K|SFRS16_uc002pan.1_RNA	p.E247K	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	837	+		Ovarian(192;0.0728)|all_neural(266;0.112)	247					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.739G>A	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643457	0.87859	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.52295	1.34;1.34;0.67;1.33	4.66	4.66	0.58398	.	0.000000	0.36519	U	0.002558	T	0.64875	0.2638	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.974;1.0;1.0	D;D;D	0.79784	0.953;0.993;0.963	T	0.65199	-0.6226	10	0.46703	T	0.11	-23.2524	15.083	0.72130	0.0:0.0:1.0:0.0	.	185;247;247	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	K	247;247;185;247	ENSP00000221455:E247K;ENSP00000375814:E247K;ENSP00000375815:E185K;ENSP00000438702:E247K	ENSP00000221455:E247K	E	+	1	0	CLASRP	50255515	1.000000	0.71417	0.951000	0.38953	0.713000	0.41058	9.016000	0.93645	2.432000	0.82394	0.563000	0.77884	GAG		0.587	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1		NM_007056		8	105	0	0	0	0.008291	0	8	105		
PPFIA3	8541	broad.mit.edu	37	19	49643260	49643260	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:49643260G>A	ENST00000334186.4	+	18	2632	c.2283G>A	c.(2281-2283)aaG>aaA	p.K761K	PPFIA3_ENST00000602351.1_Silent_p.K761K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	761					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGAAGAAGAGCATCAAGT	0.557																																						uc002pmr.2		NaN																	0				lung(1)	1						c.(2281-2283)AAG>AAA		PTPRF interacting protein alpha 3							123.0	120.0	121.0					19																	49643260		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49643260G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2283G>A	19.37:g.49643260G>A						PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.K629K|PPFIA3_uc002pmt.2_5'Flank	p.K761K	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	18	2615	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	761					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.2283G>A	CCDS12758.1																																																																																				0.557	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		8	161	0	0	0	0.004482	0	8	161		
DKKL1	27120	broad.mit.edu	37	19	49867919	49867919	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:49867919G>A	ENST00000221498.2	+	2	496	c.91G>A	c.(91-93)Gct>Act	p.A31T	TEAD2_ENST00000601519.1_5'Flank|TEAD2_ENST00000539846.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank|TEAD2_ENST00000593945.1_5'Flank|DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	31					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCGCTGCAGCTCCTATCCA	0.622																																						uc002pnk.2		NaN																	0					0						c.(91-93)GCT>ACT		dickkopf-like 1 precursor							59.0	53.0	55.0					19																	49867919		2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867919G>A	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.91G>A	19.37:g.49867919G>A	ENSP00000221498:p.Ala31Thr					TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank	p.A31T	NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	2	305	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	31						Missense_Mutation	SNP	ENST00000221498.2	37	c.91G>A	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226616	0.79576	.	.	ENSG00000104901	ENST00000221498	T	0.13538	2.58	3.36	2.28	0.28536	.	0.999489	0.08095	N	0.998757	T	0.17152	0.0412	L	0.51422	1.61	0.20307	N	0.999915	P	0.46784	0.884	P	0.44673	0.457	T	0.21655	-1.0239	10	0.39692	T	0.17	-4.8929	9.2468	0.37532	0.0:0.2218:0.7782:0.0	.	31	Q9UK85	DKKL1_HUMAN	T	31	ENSP00000221498:A31T	ENSP00000221498:A31T	A	+	1	0	DKKL1	54559731	0.258000	0.24033	0.125000	0.21846	0.794000	0.44872	0.758000	0.26447	0.674000	0.31244	0.561000	0.74099	GCT		0.622	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2		NM_014419		8	89	0	0	0	0.008291	0	8	89		
VRK3	51231	broad.mit.edu	37	19	50510925	50510925	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:50510925C>T	ENST00000599538.1	-	5	1112	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	VRK3_ENST00000594092.1_Missense_Mutation_p.E150K|VRK3_ENST00000593919.1_Missense_Mutation_p.E150K|VRK3_ENST00000316763.3_Missense_Mutation_p.E150K|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601912.1_Missense_Mutation_p.E100K|VRK3_ENST00000377011.2_Missense_Mutation_p.E100K|VRK3_ENST00000601341.1_Missense_Mutation_p.E100K|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.E150K			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	150					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGCAAAGCTTCAAGTGAGGTG	0.582																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	uc002prg.2		NaN																	0				stomach(1)|skin(1)	2						c.(448-450)GAA>AAA		vaccinia related kinase 3 isoform 1							204.0	158.0	174.0					19																	50510925		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50510925C>T	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.448G>A	19.37:g.50510925C>T	ENSP00000469880:p.Glu150Lys					VRK3_uc002prh.1_Missense_Mutation_p.E150K|VRK3_uc002pri.1_Missense_Mutation_p.E100K|VRK3_uc010ens.2_Missense_Mutation_p.E150K|VRK3_uc010ybl.1_Missense_Mutation_p.E100K|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Missense_Mutation_p.E100K|VRK3_uc002prk.1_Missense_Mutation_p.E150K|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.E150K|VRK3_uc010ybn.1_Missense_Mutation_p.E150K	p.E150K	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	5	546	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	150					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.448G>A	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489614	0.44249	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.26067	1.76;1.79	4.45	-1.8	0.07907	.	0.364836	0.29972	N	0.010721	T	0.20577	0.0495	M	0.62209	1.925	0.19775	N	0.999953	B;B;B;B;B	0.19445	0.036;0.03;0.005;0.017;0.017	B;B;B;B;B	0.17433	0.012;0.018;0.008;0.009;0.009	T	0.16837	-1.0389	10	0.44086	T	0.13	-14.3564	6.4312	0.21798	0.0:0.3603:0.46:0.1797	.	150;150;150;100;150	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	K	150;100;150	ENSP00000324636:E150K;ENSP00000366210:E100K	ENSP00000324636:E150K	E	-	1	0	VRK3	55202737	0.010000	0.17322	0.052000	0.19188	0.881000	0.50899	-0.429000	0.06982	-0.134000	0.11516	0.655000	0.94253	GAA		0.582	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1		NM_016440		7	152	0	0	0	0.00308	0	7	152		
IZUMO2	126123	broad.mit.edu	37	19	50666221	50666221	+	Splice_Site	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:50666221C>A	ENST00000293405.3	-	1	231	c.231G>T	c.(229-231)gtG>gtT	p.V77V		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	77						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AACACGCACCCACTTTCCCCA	0.682																																						uc002prp.1		NaN																	0					0						c.(229-231)GTG>GTT		hypothetical protein LOC126123 precursor							42.0	47.0	45.0					19																	50666221		1978	4160	6138	SO:0001630	splice_region_variant	126123					integral to membrane		g.chr19:50666221C>A	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.232+1G>T	19.37:g.50666221C>A							p.V77V	NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)	1	318	-		all_neural(266;0.0459)|Ovarian(192;0.0728)	77			Extracellular (Potential).		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	c.231G>T	CCDS12792.2																																																																																				0.682	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1		NM_152358	Silent	5	69	1	0	0.000157383	0.00308	0.000163955	5	69		
ZNF347	84671	broad.mit.edu	37	19	53644299	53644299	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:53644299C>T	ENST00000334197.7	-	5	1850	c.1782G>A	c.(1780-1782)gaG>gaA	p.E594E	ZNF347_ENST00000452676.2_Silent_p.E595E|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.E595E	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TATAAGGTTTCTCTCCAGTAT	0.388																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NaN																	0					0						c.(1780-1782)GAG>GAA		zinc finger protein 347							106.0	103.0	104.0					19																	53644299		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644299C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1782G>A	19.37:g.53644299C>T						ZNF347_uc010eql.1_Silent_p.E595E|ZNF347_uc002qbc.1_Silent_p.E595E	p.E594E	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1851	-			594					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1782G>A	CCDS33097.1																																																																																				0.388	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584		17	151	0	0	0	0.010504	0	17	151		
PRKCG	5582	broad.mit.edu	37	19	54410095	54410095	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:54410095C>A	ENST00000263431.3	+	18	2322	c.2040C>A	c.(2038-2040)ttC>ttA	p.F680L	PRKCG_ENST00000542049.1_Missense_Mutation_p.F531L|PRKCG_ENST00000540413.1_Missense_Mutation_p.F680L|CACNG7_ENST00000391767.1_5'Flank	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	680	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACCCCGACTTCGTGCACCCGG	0.687											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qcq.1		NaN																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(2038-2040)TTC>TTA		protein kinase C, gamma							44.0	54.0	51.0					19																	54410095		2203	4299	6502	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54410095C>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.2040C>A	19.37:g.54410095C>A	ENSP00000263431:p.Phe680Leu		OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	PRKCG_uc010yeg.1_Missense_Mutation_p.F680L|PRKCG_uc010yeh.1_Missense_Mutation_p.F531L	p.F680L	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	18	2322	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		680			AGC-kinase C-terminal.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.2040C>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780164	0.49891	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.68765	-0.34;-0.34;-0.35	4.75	2.58	0.30949	AGC-kinase, C-terminal (1);	.	.	.	.	T	0.51500	0.1678	L	0.33624	1.015	0.42701	D	0.993613	B;B;B	0.30326	0.015;0.276;0.005	B;B;B	0.27170	0.008;0.077;0.008	T	0.50233	-0.8852	9	0.37606	T	0.19	.	9.8908	0.41290	0.0:0.8158:0.0:0.1842	.	531;680;680	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	L	680;680;531	ENSP00000443493:F680L;ENSP00000263431:F680L;ENSP00000438090:F531L	ENSP00000263431:F680L	F	+	3	2	PRKCG	59101907	0.498000	0.26075	1.000000	0.80357	0.980000	0.70556	-0.258000	0.08733	1.140000	0.42260	0.561000	0.74099	TTC		0.687	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3		NM_002739		10	139	1	0	2.80697e-09	0.000978	3.05159e-09	10	139		
ZNF582	147948	broad.mit.edu	37	19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:56896256C>G	ENST00000301310.4	-	5	688	c.530G>C	c.(529-531)aGa>aCa	p.R177T	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.R177T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(529-531)AGA>ACA		zinc finger protein 582							66.0	69.0	68.0					19																	56896256		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896256C>G	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.530G>C	19.37:g.56896256C>G	ENSP00000301310:p.Arg177Thr					ZNF582_uc002qmy.2_Missense_Mutation_p.R208T	p.R177T	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	689	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	177			C2H2-type 1; degenerate.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.530G>C	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268431	0.40095	.	.	ENSG00000018869	ENST00000301310	T	0.15017	2.46	4.63	-0.201	0.13212	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417692	0.17833	N	0.160461	T	0.10423	0.0255	N	0.25380	0.74	0.23168	N	0.998182	B;B	0.33073	0.396;0.001	B;B	0.29176	0.099;0.001	T	0.17868	-1.0355	10	0.62326	D	0.03	.	9.6663	0.39986	0.0:0.6919:0.0:0.3081	.	177;208	Q96NG8;B4DQZ9	ZN582_HUMAN;.	T	177	ENSP00000301310:R177T	ENSP00000301310:R177T	R	-	2	0	ZNF582	61588068	0.000000	0.05858	0.002000	0.10522	0.330000	0.28571	-0.875000	0.04205	-0.000000	0.14550	0.591000	0.81541	AGA		0.328	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2		NM_144690		3	41	0	0	0	0.004672	0	3	41		
SLC27A5	10998	broad.mit.edu	37	19	59022230	59022230	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:59022230G>A	ENST00000263093.2	-	2	865	c.756C>T	c.(754-756)ctC>ctT	p.L252L	SLC27A5_ENST00000601355.1_Silent_p.L168L	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	252					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGTATGGCTGAGGTAGAAGC	0.632																																						uc002qtc.2		NaN																	0					0						c.(754-756)CTC>CTT		solute carrier family 27 (fatty acid							34.0	35.0	34.0					19																	59022230		2203	4300	6503	SO:0001819	synonymous_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59022230G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.756C>T	19.37:g.59022230G>A							p.L252L	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	2	866	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	252			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Silent	SNP	ENST00000263093.2	37	c.756C>T	CCDS12983.1																																																																																				0.632	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1		NM_012254		3	37	0	0	0	0.004672	0	3	37		
UBXN2A	165324	broad.mit.edu	37	2	24194153	24194153	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:24194153G>A	ENST00000309033.4	+	3	293	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	UBXN2A_ENST00000535786.1_Missense_Mutation_p.E17K|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E17K	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	17					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TAGGGTTTGTGAAACAGGATC	0.308																																						uc010exy.2		NaN																	0					0						c.(49-51)GAA>AAA		UBX domain containing 4							135.0	143.0	141.0					2																	24194153		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24194153G>A	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.49G>A	2.37:g.24194153G>A	ENSP00000312107:p.Glu17Lys					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.E17K|UBXN2A_uc010ykj.1_Missense_Mutation_p.E17K	p.E17K	NM_181713	NP_859064	P68543	UBX2A_HUMAN			4	517	+			17					A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.49G>A	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400900	0.42613	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.46451	0.88;0.88;0.87	4.53	4.53	0.55603	.	0.453173	0.24202	N	0.040604	T	0.22205	0.0535	N	0.14661	0.345	0.29340	N	0.866063	B;B	0.22276	0.067;0.067	B;B	0.18263	0.008;0.021	T	0.11470	-1.0586	10	0.12766	T	0.61	3.0014	9.3364	0.38054	0.1013:0.0:0.8987:0.0	.	17;17	B7ZKP8;P68543	.;UBX2A_HUMAN	K	17	ENSP00000385525:E17K;ENSP00000312107:E17K;ENSP00000440533:E17K	ENSP00000312107:E17K	E	+	1	0	UBXN2A	24047657	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.806000	0.55583	2.484000	0.83849	0.644000	0.83932	GAA		0.308	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2		NM_181713		7	100	0	0	0	0.004482	0	7	100		
MAPRE3	22924	broad.mit.edu	37	2	27248831	27248831	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27248831C>G	ENST00000233121.2	+	6	906	c.708C>G	c.(706-708)atC>atG	p.I236M	MAPRE3_ENST00000405074.3_Missense_Mutation_p.I221M|MAPRE3_ENST00000402218.1_Missense_Mutation_p.I221M			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	236	APC-binding.|DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAGCTCATCTGCCAGGAGC	0.537																																						uc002rhw.2		NaN																	0				ovary(1)	1						c.(706-708)ATC>ATG		microtubule-associated protein, RP/EB family,							120.0	108.0	112.0					2																	27248831		2203	4300	6503	SO:0001583	missense	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27248831C>G	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.708C>G	2.37:g.27248831C>G	ENSP00000233121:p.Ile236Met					MAPRE3_uc002rhx.2_Missense_Mutation_p.I221M	p.I236M	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN			6	861	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		236			APC-binding.|EB1 C-terminal.|DCTN1-binding.		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	ENST00000233121.2	37	c.708C>G	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	c	14.95	2.687893	0.48097	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000402218	T;T;T	0.46819	0.86;0.87;0.87	5.44	4.56	0.56223	EB1, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	L	0.38838	1.175	0.58432	D	0.999998	P;P	0.41978	0.725;0.767	P;P	0.51945	0.557;0.685	T	0.46843	-0.9162	10	0.48119	T	0.1	-15.806	10.1637	0.42866	0.0:0.8387:0.0:0.1613	.	221;236	Q9UPY8-2;Q9UPY8	.;MARE3_HUMAN	M	236;221;221	ENSP00000233121:I236M;ENSP00000383915:I221M;ENSP00000385715:I221M	ENSP00000233121:I236M	I	+	3	3	MAPRE3	27102335	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	1.634000	0.37123	1.311000	0.45024	0.645000	0.84053	ATC		0.537	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1		NM_012326		12	90	0	0	0	0.003163	0	12	90		
C2orf16	84226	broad.mit.edu	37	2	27805353	27805353	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27805353C>T	ENST00000408964.2	+	1	5965	c.5914C>T	c.(5914-5916)Ccc>Tcc	p.P1972S	ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1972						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACATAAAAATCCCAAAGCAGG	0.507																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(5914-5916)CCC>TCC		hypothetical protein LOC84226							90.0	91.0	91.0					2																	27805353		1906	4117	6023	SO:0001583	missense	84226							g.chr2:27805353C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5914C>T	2.37:g.27805353C>T	ENSP00000386190:p.Pro1972Ser					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.P1972S	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5965	+	Acute lymphoblastic leukemia(172;0.155)		1972					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5914C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902198	0.52227	.	.	ENSG00000221843	ENST00000408964	T	0.07444	3.19	3.36	-1.02	0.10135	.	.	.	.	.	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	1	B	0.25312	0.123	B	0.22880	0.042	T	0.45279	-0.9272	9	0.09084	T	0.74	.	1.8162	0.03101	0.2203:0.3426:0.317:0.1202	.	1972	Q68DN1	CB016_HUMAN	S	1972	ENSP00000386190:P1972S	ENSP00000386190:P1972S	P	+	1	0	C2orf16	27658857	0.000000	0.05858	0.012000	0.15200	0.162000	0.22319	-1.818000	0.01717	-0.220000	0.09988	0.306000	0.20318	CCC		0.507	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		19	188	0	0	0	0.003954	0	19	188		
CCDC121	79635	broad.mit.edu	37	2	27850025	27850025	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27850025C>G	ENST00000324364.3	-	2	822	c.642G>C	c.(640-642)caG>caC	p.Q214H	GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000424214.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.Q376H|GPN1_ENST00000264718.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000610189.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	214										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CCGTTAGTTTCTGGGCTTGCT	0.478																																						uc002rle.2		NaN																	0					0						c.(640-642)CAG>CAC		coiled-coil domain containing 121 isoform 3							57.0	59.0	58.0					2																	27850025		2203	4297	6500	SO:0001583	missense	79635							g.chr2:27850025C>G	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.642G>C	2.37:g.27850025C>G	ENSP00000339087:p.Gln214His					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.Q378H|CCDC121_uc002rld.2_Missense_Mutation_p.Q376H|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.Q214H	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	823	-	Acute lymphoblastic leukemia(172;0.155)		214			Potential.		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.642G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	5.121	0.207916	0.09704	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.32515	1.45;1.45	5.25	1.25	0.21368	.	3.072490	0.00853	N	0.001840	T	0.26340	0.0643	L	0.60455	1.87	0.09310	N	1	B	0.31790	0.34	B	0.28385	0.089	T	0.06899	-1.0801	10	0.14252	T	0.57	-17.2649	1.7519	0.02973	0.1681:0.4859:0.163:0.1831	.	214	Q6ZUS5	CC121_HUMAN	H	214;376	ENSP00000339087:Q214H;ENSP00000412150:Q376H	ENSP00000339087:Q214H	Q	-	3	2	CCDC121	27703529	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.155000	0.16362	-0.055000	0.13244	0.591000	0.81541	CAG		0.478	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1		NM_024584		9	38	0	0	0	0.004482	0	9	38		
SLC4A1AP	22950	broad.mit.edu	37	2	27900720	27900720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27900720G>A	ENST00000326019.6	+	8	1974	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	564						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CTTTTGAACTGAGGAAAGAAC	0.358																																						uc002rlk.3		NaN																	0					0						c.(1690-1692)CTG>CTA		solute carrier family 4 (anion exchanger),							93.0	93.0	93.0					2																	27900720		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27900720G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1692G>A	2.37:g.27900720G>A							p.L564L	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			8	1974	+	Acute lymphoblastic leukemia(172;0.155)		564					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.1692G>A	CCDS33166.1																																																																																				0.358	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1		NM_018158		10	68	0	0	0	0.000978	0	10	68		
NLRC4	58484	broad.mit.edu	37	2	32475775	32475775	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32475775G>C	ENST00000404025.2	-	5	1646	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.F386L|NLRC4_ENST00000402280.1_Missense_Mutation_p.F386L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	386	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCTCCGAATGAAGTCACTTG	0.468																																						uc002roi.2		NaN																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(1156-1158)TTC>TTG		caspase recruitment domain protein 12							91.0	96.0	94.0					2																	32475775		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475775G>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1158C>G	2.37:g.32475775G>C	ENSP00000385090:p.Phe386Leu					NLRC4_uc002roj.1_Missense_Mutation_p.F386L|NLRC4_uc010ezt.1_Intron	p.F386L	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	1404	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		386			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1158C>G	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.937302	0.00052	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.10382	2.88;2.88;2.88	3.26	0.0592	0.14331	.	0.622621	0.13665	N	0.371273	T	0.02848	0.0085	N	0.04063	-0.285	0.33672	D	0.611015	B	0.02656	0.0	B	0.01281	0.0	T	0.41395	-0.9511	9	0.05833	T	0.94	-1.5217	0.5358	0.00636	0.346:0.1744:0.3022:0.1774	.	386	Q9NPP4	NLRC4_HUMAN	L	386	ENSP00000354159:F386L;ENSP00000385428:F386L;ENSP00000385090:F386L	ENSP00000354159:F386L	F	-	3	2	NLRC4	32329279	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	-0.155000	0.10115	-0.105000	0.12132	0.536000	0.68110	TTC		0.468	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2		NM_021209		9	56	0	0	0	0.008291	0	9	56		
BIRC6	57448	broad.mit.edu	37	2	32668572	32668572	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32668572G>T	ENST00000421745.2	+	20	4386	c.4252G>T	c.(4252-4254)Gac>Tac	p.D1418Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1418					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGCAAATGTGACCCATGTCA	0.333																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4252-4254)GAC>TAC		baculoviral IAP repeat-containing 6							89.0	85.0	86.0					2																	32668572		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32668572G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4252G>T	2.37:g.32668572G>T	ENSP00000393596:p.Asp1418Tyr						p.D1418Y	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			20	4386	+	Acute lymphoblastic leukemia(172;0.155)		1418					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4252G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638672	0.67130	.	.	ENSG00000115760	ENST00000421745	T	0.77620	-1.11	5.74	5.74	0.90152	.	0.175139	0.48767	D	0.000172	T	0.78020	0.4218	L	0.50333	1.59	0.58432	D	0.999999	P	0.38922	0.651	B	0.41088	0.347	T	0.79165	-0.1916	10	0.62326	D	0.03	.	19.5342	0.95242	0.0:0.0:1.0:0.0	.	1418	Q9NR09	BIRC6_HUMAN	Y	1418	ENSP00000393596:D1418Y	ENSP00000393596:D1418Y	D	+	1	0	BIRC6	32522076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.685000	0.84117	2.712000	0.92718	0.650000	0.86243	GAC		0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		3	19	1	0	0.004672	0.004672	0.00477731	3	19		
BIRC6	57448	broad.mit.edu	37	2	32670646	32670646	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32670646G>A	ENST00000421745.2	+	21	4528	c.4394G>A	c.(4393-4395)gGa>gAa	p.G1465E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1465					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATCTGGCTGGATGCAGTACA	0.378																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4393-4395)GGA>GAA		baculoviral IAP repeat-containing 6							137.0	132.0	134.0					2																	32670646		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32670646G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4394G>A	2.37:g.32670646G>A	ENSP00000393596:p.Gly1465Glu						p.G1465E	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			21	4528	+	Acute lymphoblastic leukemia(172;0.155)		1465					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4394G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946320	0.53079	.	.	ENSG00000115760	ENST00000421745	T	0.72942	-0.7	5.68	4.8	0.61643	.	0.204107	0.41396	D	0.000891	T	0.65606	0.2707	L	0.43152	1.355	0.48696	D	0.999696	B	0.14438	0.01	B	0.06405	0.002	T	0.62714	-0.6796	10	0.62326	D	0.03	.	16.8859	0.86076	0.0:0.128:0.872:0.0	.	1465	Q9NR09	BIRC6_HUMAN	E	1465	ENSP00000393596:G1465E	ENSP00000393596:G1465E	G	+	2	0	BIRC6	32524150	1.000000	0.71417	0.997000	0.53966	0.770000	0.43624	3.211000	0.51137	1.372000	0.46190	0.650000	0.86243	GGA		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		13	39	0	0	0	0.00499	0	13	39		
BIRC6	57448	broad.mit.edu	37	2	32673888	32673888	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32673888G>A	ENST00000421745.2	+	22	4644	c.4510G>A	c.(4510-4512)Gat>Aat	p.D1504N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1504					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCACCATTTGATCCAGTCCT	0.313																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4510-4512)GAT>AAT		baculoviral IAP repeat-containing 6							119.0	122.0	121.0					2																	32673888		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32673888G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4510G>A	2.37:g.32673888G>A	ENSP00000393596:p.Asp1504Asn						p.D1504N	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			22	4644	+	Acute lymphoblastic leukemia(172;0.155)		1504					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4510G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456622	0.84317	.	.	ENSG00000115760	ENST00000421745	T	0.77489	-1.1	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.85861	0.1410	10	0.72032	D	0.01	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	1504	Q9NR09	BIRC6_HUMAN	N	1504	ENSP00000393596:D1504N	ENSP00000393596:D1504N	D	+	1	0	BIRC6	32527392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	GAT		0.313	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		14	54	0	0	0	0.006122	0	14	54		
ATL2	64225	broad.mit.edu	37	2	38570616	38570616	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:38570616C>G	ENST00000378954.4	-	2	158	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ATL2_ENST00000406122.1_Intron|ATL2_ENST00000419554.2_Missense_Mutation_p.E53Q|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000486927.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.E35Q|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000452935.2_Missense_Mutation_p.E35Q|ATL2_ENST00000539122.1_Intron	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	53					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCATAACCTCATCAGAATTT	0.338																																						uc002rqq.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(157-159)GAG>CAG		atlastin GTPase 2 isoform 2							97.0	94.0	95.0					2																	38570616		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38570616C>G		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.157G>C	2.37:g.38570616C>G	ENSP00000368237:p.Glu53Gln					ATL2_uc010ynm.1_Missense_Mutation_p.E35Q|ATL2_uc010ynn.1_Missense_Mutation_p.E35Q|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.E53Q|ATL2_uc002rqr.2_Intron	p.E53Q	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN			2	187	-			53			Cytoplasmic.		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.157G>C	CCDS46260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.000467|4.000467	0.74818|0.74818	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483|ENST00000443098	T;D;T;D;T|.	0.82344|.	-1.44;-1.6;-1.48;-1.56;2.26|.	5.37|5.37	4.5|4.5	0.54988|0.54988	.|.	0.351640|.	0.29286|.	N|.	0.012583|.	T|T	0.53753|0.53753	0.1816|0.1816	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;P;P;B|.	0.37276|.	0.449;0.572;0.589;0.303|.	B;B;B;B|.	0.39660|.	0.303;0.306;0.154;0.248|.	T|T	0.50092|0.50092	-0.8868|-0.8868	10|5	0.27082|.	T|.	0.32|.	-12.2689|-12.2689	13.0327|13.0327	0.58851|0.58851	0.0:0.9238:0.0:0.0762|0.0:0.9238:0.0:0.0762	.|.	35;35;53;53|.	B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;ATLA2_HUMAN|.	Q|I	53;35;53;35;90|51	ENSP00000368237:E53Q;ENSP00000333393:E35Q;ENSP00000415336:E53Q;ENSP00000390743:E35Q;ENSP00000404921:E90Q|.	ENSP00000333393:E35Q|.	E|M	-|-	1|3	0|0	ATL2|ATL2	38424120|38424120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.015000|2.015000	0.40961|0.40961	1.499000|1.499000	0.48617|0.48617	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.338	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2		NM_022374		7	65	0	0	0	0.006214	0	7	65		
NRXN1	9378	broad.mit.edu	37	2	50850623	50850623	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:50850623C>T	ENST00000406316.2	-	6	2439	c.963G>A	c.(961-963)atG>atA	p.M321I	NRXN1_ENST00000404971.1_Missense_Mutation_p.M354I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.M321I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M321I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M321I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M321I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	321	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGTGTGAAGCATCAGTCCAT	0.433																																						uc010fbq.2		NaN																	0				ovary(2)	2						c.(1060-1062)ATG>ATA		neurexin 1 isoform alpha2 precursor							188.0	173.0	178.0					2																	50850623		1875	4106	5981	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850623C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.963G>A	2.37:g.50850623C>T	ENSP00000384311:p.Met321Ile					NRXN1_uc002rxb.3_Missense_Mutation_p.M1I|NRXN1_uc002rxe.3_Missense_Mutation_p.M321I|NRXN1_uc002rxc.1_RNA	p.M354I	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2539	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1062G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686119	0.29962	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.96;-0.97;-0.96;-0.97	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	N	0.10809	0.05	0.44024	D	0.996746	B;P;P	0.49358	0.024;0.923;0.637	B;D;P	0.69307	0.027;0.963;0.687	T	0.75684	-0.3232	10	0.33141	T	0.24	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	354;321;321	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	354;321;321;321;355;321;321	ENSP00000385142:M354I;ENSP00000384311:M321I;ENSP00000434015:M321I;ENSP00000385017:M321I;ENSP00000385434:M321I;ENSP00000385681:M321I	ENSP00000385017:M321I	M	-	3	0	NRXN1	50704127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.776000	0.95493	0.650000	0.86243	ATG		0.433	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				22	181	0	0	0	0.00632	0	22	181		
GPR75	10936	broad.mit.edu	37	2	54081274	54081274	+	Missense_Mutation	SNP	T	T	C	rs532258974		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:54081274T>C	ENST00000394705.2	-	2	890	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	207					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTCGACCACATAGAGAGACAA	0.507													T|||	1	0.000199681	0.0	0.0	5008	,	,		23529	0.0		0.0	False		,,,				2504	0.001					uc002rxo.3		NaN																	0				ovary(1)|skin(1)	2						c.(619-621)TAT>TGT		G protein-coupled receptor 75							97.0	99.0	98.0					2																	54081274		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081274T>C	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.620A>G	2.37:g.54081274T>C	ENSP00000378195:p.Tyr207Cys					ASB3_uc002rxi.3_Intron	p.Y207C	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	891	-			207			Helical; Name=5; (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.620A>G	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676622	0.67928	.	.	ENSG00000119737	ENST00000394705	T	0.71579	-0.58	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.067588	0.64402	D	0.000009	D	0.82999	0.5159	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.63283	0.913	D	0.84887	0.0834	9	0.59425	D	0.04	-11.024	16.0388	0.80650	0.0:0.0:0.0:1.0	.	207	O95800	GPR75_HUMAN	C	207	ENSP00000378195:Y207C	ENSP00000378195:Y207C	Y	-	2	0	GPR75	53934778	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	7.520000	0.81821	2.188000	0.69820	0.454000	0.30748	TAT		0.507	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2				7	117	0	0	0	0.00308	0	7	117		
GPR75	10936	broad.mit.edu	37	2	54081280	54081280	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:54081280G>C	ENST00000394705.2	-	2	884	c.614C>G	c.(613-615)tCt>tGt	p.S205C	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	205					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACATAGAGAGACAAAATGGC	0.493																																						uc002rxo.3		NaN																	0				ovary(1)|skin(1)	2						c.(613-615)TCT>TGT		G protein-coupled receptor 75							96.0	99.0	98.0					2																	54081280		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081280G>C	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.614C>G	2.37:g.54081280G>C	ENSP00000378195:p.Ser205Cys					ASB3_uc002rxi.3_Intron	p.S205C	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	885	-			205			Extracellular (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.614C>G	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158635	0.57368	.	.	ENSG00000119737	ENST00000394705	T	0.37752	1.18	5.74	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.066018	0.64402	D	0.000007	T	0.26340	0.0643	.	.	.	0.39803	D	0.972591	B	0.22003	0.063	B	0.21917	0.037	T	0.08146	-1.0736	9	0.39692	T	0.17	-12.2255	8.7747	0.34753	0.0:0.1206:0.5939:0.2856	.	205	O95800	GPR75_HUMAN	C	205	ENSP00000378195:S205C	ENSP00000378195:S205C	S	-	2	0	GPR75	53934784	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	4.411000	0.59781	2.709000	0.92574	0.555000	0.69702	TCT		0.493	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2				8	114	0	0	0	0.004482	0	8	114		
SERTAD2	9792	broad.mit.edu	37	2	64863402	64863402	+	Missense_Mutation	SNP	C	C	T	rs184187916	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:64863402C>T	ENST00000313349.3	-	2	901	c.604G>A	c.(604-606)Gag>Aag	p.E202K	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	202					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTGCCAGCCTCGCTGGAGGTC	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.0					uc002sde.1		NaN																	0					0						c.(604-606)GAG>AAG		SERTA domain containing 2							55.0	59.0	57.0					2																	64863402		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863402C>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.604G>A	2.37:g.64863402C>T	ENSP00000326933:p.Glu202Lys						p.E202K	NM_014755	NP_055570	Q14140	SRTD2_HUMAN			2	901	-			202					Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.604G>A	CCDS33210.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.163	-1.079207	0.01903	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.81	3.99	0.46301	.	1.012990	0.07866	N	0.967062	T	0.31918	0.0812	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32798	-0.9893	9	0.06494	T	0.89	-4.8679	9.2564	0.37586	0.0:0.7456:0.1212:0.1332	.	202	Q14140	SRTD2_HUMAN	K	202	.	ENSP00000326933:E202K	E	-	1	0	SERTAD2	64716906	0.001000	0.12720	0.002000	0.10522	0.021000	0.10359	1.204000	0.32296	0.781000	0.33589	0.655000	0.94253	GAG		0.567	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2		NM_014755		24	77	0	0	0	0.005443	0	24	77		
C2orf68	388969	broad.mit.edu	37	2	85836116	85836116	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:85836116G>C	ENST00000306336.5	-	4	497	c.453C>G	c.(451-453)ctC>ctG	p.L151L	C2orf68_ENST00000478626.1_5'Flank|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	151										breast(1)|central_nervous_system(1)|endometrium(1)	3						TACGCAACTTGAGGGCTTCTC	0.552																																						uc002sqc.2		NaN																	0				central_nervous_system(1)	1						c.(451-453)CTC>CTG		hypothetical protein LOC388969							107.0	106.0	106.0					2																	85836116		2061	4212	6273	SO:0001819	synonymous_variant	388969							g.chr2:85836116G>C		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.453C>G	2.37:g.85836116G>C						USP39_uc002sqb.2_Intron	p.L151L	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN			4	525	-			151					B4DT10|Q4G0J7|Q6ZVA6	Silent	SNP	ENST00000306336.5	37	c.453C>G	CCDS42704.1																																																																																				0.552	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1		NM_001013649		7	115	0	0	0	0.006214	0	7	115		
TEKT4	150483	broad.mit.edu	37	2	95537570	95537570	+	Silent	SNP	C	C	T	rs201608529	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:95537570C>T	ENST00000295201.4	+	1	383	c.246C>T	c.(244-246)cgC>cgT	p.R82R	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.R82R	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	82					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGGCGCAGCGCACGCAGCAAG	0.692																																						uc002stw.1		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(244-246)CGC>CGT		tektin 4																																				SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537570C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.246C>T	2.37:g.95537570C>T						uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.R82R	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			1	339	+			82						Silent	SNP	ENST00000295201.4	37	c.246C>T	CCDS2005.1																																																																																				0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1		NM_144705		4	24	0	0	0	0.001984	0	4	24		
KIAA1211L	343990	broad.mit.edu	37	2	99413948	99413948	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:99413948C>T	ENST00000397899.2	-	8	2800	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	823	Pro-rich.																TCCAGGGTGGCGCAGGCTGCC	0.587																																						uc002szf.1		NaN																	0					0						c.(2467-2469)GCG>GCA		hypothetical protein LOC343990							75.0	80.0	78.0					2																	99413948		2088	4216	6304	SO:0001819	synonymous_variant	343990							g.chr2:99413948C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2469G>A	2.37:g.99413948C>T							p.A823A	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			8	2763	-			823			Pro-rich.			Silent	SNP	ENST00000397899.2	37	c.2469G>A	CCDS42720.1																																																																																				0.587	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1		NM_207362		12	101	0	0	0	0.004007	0	12	101		
NEB	4703	broad.mit.edu	37	2	152553184	152553184	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:152553184T>C	ENST00000172853.10	-	17	1683	c.1536A>G	c.(1534-1536)ctA>ctG	p.L512L	NEB_ENST00000409198.1_Silent_p.L512L|NEB_ENST00000427231.2_Silent_p.L512L|NEB_ENST00000397345.3_Silent_p.L512L|NEB_ENST00000603639.1_Silent_p.L512L|NEB_ENST00000604864.1_Silent_p.L512L			P20929	NEBU_HUMAN	nebulin	512					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGGCTTGTAGCAGAACAG	0.403																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(1534-1536)CTA>CTG		nebulin isoform 3							221.0	215.0	217.0					2																	152553184		1910	4121	6031	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152553184T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1536A>G	2.37:g.152553184T>C						NEB_uc010fny.1_Silent_p.L66L	p.L512L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	17	1727	-			512			Nebulin 12.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.1536A>G																																																																																					0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		5	59	0	0	0	0.001168	0	5	59		
TTN	7273	broad.mit.edu	37	2	179482573	179482573	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179482573G>A	ENST00000591111.1	-	203	42806	c.42582C>T	c.(42580-42582)gcC>gcT	p.A14194A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.A15835A|TTN_ENST00000359218.5_Silent_p.A6895A|TTN_ENST00000342992.6_Silent_p.A13267A|TTN_ENST00000460472.2_Silent_p.A6770A|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Silent_p.A6962A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTCGATTTTGGGCTCTCACTC	0.463																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(39799-39801)GCC>GCT		titin isoform N2-A							173.0	163.0	166.0					2																	179482573		1962	4157	6119	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482573G>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.42582C>T	2.37:g.179482573G>A						TTN_uc010zfh.1_Silent_p.A6962A|TTN_uc010zfi.1_Silent_p.A6895A|TTN_uc010zfj.1_Silent_p.A6770A	p.A13267A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		202	40025	-			14194					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.39801C>T																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	96	0	0	0	0.004482	0	9	96		
TTN	7273	broad.mit.edu	37	2	179497319	179497319	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179497319C>G	ENST00000591111.1	-	185	38715	c.38491G>C	c.(38491-38493)Gaa>Caa	p.E12831Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14472Q|TTN_ENST00000359218.5_Missense_Mutation_p.E5532Q|TTN_ENST00000342992.6_Missense_Mutation_p.E11904Q|TTN_ENST00000460472.2_Missense_Mutation_p.E5407Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5599Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12831	Ig-like 85.				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)			GCTTCATCTTCAAAAGCAGCT	0.388																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35710-35712)GAA>CAA		titin isoform N2-A							146.0	144.0	145.0					2																	179497319		1926	4131	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497319C>G	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.38491G>C	2.37:g.179497319C>G	ENSP00000465570:p.Glu12831Gln					TTN_uc010zfh.1_Missense_Mutation_p.E5599Q|TTN_uc010zfi.1_Missense_Mutation_p.E5532Q|TTN_uc010zfj.1_Missense_Mutation_p.E5407Q	p.E11904Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		184	35934	-			12831					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.35710G>C		.	.	.	.	.	.	.	.	.	.	C	14.60	2.583781	0.46006	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	6.1	6.1	0.99115	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88570	0.6472	M	0.80183	2.485	0.58432	D	0.999999	D;D;D;D	0.62365	0.991;0.991;0.991;0.991	P;P;P;P	0.62089	0.864;0.864;0.864;0.898	D	0.88637	0.3173	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	5407;5532;5599;12831	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	11904;5407;5599;5532;5407	ENSP00000343764:E11904Q;ENSP00000434586:E5407Q;ENSP00000340554:E5599Q;ENSP00000352154:E5532Q	ENSP00000340554:E5599Q	E	-	1	0	TTN	179205564	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.902000	0.99343	0.650000	0.86243	GAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		14	113	0	0	0	0.001855	0	14	113		
TTN	7273	broad.mit.edu	37	2	179575936	179575936	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179575936C>G	ENST00000591111.1	-	95	27300	c.27076G>C	c.(27076-27078)Gac>Cac	p.D9026H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D9343H|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D8099H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13164	Ig-like 73.				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)			TTTGGGCTGTCTTTCAATGGC	0.423																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24295-24297)GAC>CAC		titin isoform N2-A							211.0	208.0	209.0					2																	179575936		1870	4110	5980	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575936C>G	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.27076G>C	2.37:g.179575936C>G	ENSP00000465570:p.Asp9026His					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D4760H	p.D8099H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	24519	-			9026					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.24295G>C		.	.	.	.	.	.	.	.	.	.	C	12.27	1.886741	0.33348	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68284	0.2984	L	0.58583	1.82	0.80722	D	1	B	0.15473	0.013	B	0.23275	0.045	T	0.64437	-0.6408	9	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	9026	Q8WZ42	TITIN_HUMAN	H	8099	ENSP00000343764:D8099H	ENSP00000343764:D8099H	D	-	1	0	TTN	179284181	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.463000	0.66712	2.882000	0.98803	0.655000	0.94253	GAC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	227	0	0	0	0.00333	0	17	227		
TTN	7273	broad.mit.edu	37	2	179577067	179577067	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179577067G>T	ENST00000591111.1	-	93	26855	c.26631C>A	c.(26629-26631)tcC>tcA	p.S8877S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.S9194S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7950S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13022	Ig-like 71.				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)			GTGCTGAACAGGAATCTTTTC	0.388																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(23848-23850)TCC>TCA		titin isoform N2-A							198.0	198.0	198.0					2																	179577067		1878	4100	5978	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577067G>T	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.26631C>A	2.37:g.179577067G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S4611S	p.S7950S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		92	24074	-			8877					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.23850C>A																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		20	243	1	0	4.47668e-21	0.003954	4.9752e-21	20	243		
CCDC141	285025	broad.mit.edu	37	2	179720159	179720159	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179720159T>A	ENST00000420890.2	-	19	3092	c.2975A>T	c.(2974-2976)aAa>aTa	p.K992I	CCDC141_ENST00000295723.5_Missense_Mutation_p.K417I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	992										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCACATGTTTTTGCAAATC	0.343																																						uc002unf.1		NaN																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(1249-1251)AAA>ATA		coiled-coil domain containing 141							124.0	121.0	122.0					2																	179720159		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179720159T>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2975A>T	2.37:g.179720159T>A	ENSP00000395995:p.Lys992Ile						p.K417I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1307	-			417					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1250A>T		.	.	.	.	.	.	.	.	.	.	T	14.43	2.533621	0.45073	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.36520	1.25;1.25;1.25	4.99	2.57	0.30868	.	0.228496	0.30028	N	0.010589	T	0.41627	0.1167	L	0.32530	0.975	0.28151	N	0.929372	D	0.67145	0.996	D	0.66351	0.943	T	0.15925	-1.0420	10	0.62326	D	0.03	-5.6054	7.5167	0.27604	0.0:0.0747:0.1437:0.7816	.	417	Q6ZP82	CC141_HUMAN	I	992;436;417	ENSP00000395995:K992I;ENSP00000344627:K436I;ENSP00000295723:K417I	ENSP00000295723:K417I	K	-	2	0	CCDC141	179428404	1.000000	0.71417	0.449000	0.26957	0.252000	0.25951	2.843000	0.48238	0.823000	0.34589	-0.316000	0.08728	AAA		0.343	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_173648		4	73	0	0	0	0.000602	0	4	73		
NEUROD1	4760	broad.mit.edu	37	2	182543034	182543034	+	Missense_Mutation	SNP	G	G	A	rs375030401		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:182543034G>A	ENST00000295108.3	-	2	1011	c.554C>T	c.(553-555)gCg>gTg	p.A185V	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	185				A -> G (in Ref. 2; BAA11558 and 5; BAA87605). {ECO:0000305}.	amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAGGCAGCCCGCAACCAGGTT	0.612																																						uc002uof.2		NaN																	0				ovary(1)	1						c.(553-555)GCG>GTG		neurogenic differentiation 1		G	VAL/ALA	0,4406		0,0,2203	56.0	57.0	57.0		554	6.0	0.9	2		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	NEUROD1	NM_002500.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	185/357	182543034	1,13005	2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543034G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.554C>T	2.37:g.182543034G>A	ENSP00000295108:p.Ala185Val					CERKL_uc002uod.1_Intron	p.A185V	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	790	-			185	A -> G (in Ref. 2; BAA11558 and 5; BAA87605).				B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.554C>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138459	0.77775	0.0	1.16E-4	ENSG00000162992	ENST00000295108	D	0.84370	-1.84	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93599	0.6928	10	0.87932	D	0	-14.7595	19.1109	0.93315	0.0:0.0:1.0:0.0	.	185	Q13562	NDF1_HUMAN	V	185	ENSP00000295108:A185V	ENSP00000295108:A185V	A	-	2	0	NEUROD1	182251279	1.000000	0.71417	0.924000	0.36721	0.984000	0.73092	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GCG		0.612	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2		NM_002500		6	59	0	0	0	0.001168	0	6	59		
NUP35	129401	broad.mit.edu	37	2	183993048	183993048	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:183993048C>T	ENST00000295119.4	+	2	177	c.74C>T	c.(73-75)tCt>tTt	p.S25F	NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.S8F	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	25					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TCACCCACATCTCCAAAGCCA	0.418																																						uc002upf.2		NaN																	0					0						c.(73-75)TCT>TTT		nucleoporin 35kDa							76.0	74.0	75.0					2																	183993048		2203	4300	6503	SO:0001583	missense	129401				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane		g.chr2:183993048C>T	AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.74C>T	2.37:g.183993048C>T	ENSP00000295119:p.Ser25Phe					NUP35_uc010zfs.1_Missense_Mutation_p.S7F|NUP35_uc010zft.1_5'UTR|NUP35_uc002upg.2_RNA	p.S25F	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN			2	177	+			25					B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Missense_Mutation	SNP	ENST00000295119.4	37	c.74C>T	CCDS2290.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887645	0.91814	.	.	ENSG00000163002	ENST00000442895;ENST00000446612;ENST00000409798;ENST00000455063;ENST00000295119	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.28	5.28	0.74379	.	0.049785	0.85682	D	0.000000	T	0.67088	0.2856	M	0.77103	2.36	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.63699	-0.6578	10	0.25106	T	0.35	-20.054	18.8676	0.92300	0.0:1.0:0.0:0.0	.	25	Q8NFH5	NUP53_HUMAN	F	8;8;8;8;25	ENSP00000403819:S8F;ENSP00000412554:S8F;ENSP00000387305:S8F;ENSP00000393130:S8F;ENSP00000295119:S25F	ENSP00000295119:S25F	S	+	2	0	NUP35	183701293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.623000	0.88846	0.591000	0.81541	TCT		0.418	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1		NM_138285		5	55	0	0	0	0.000602	0	5	55		
WDR75	84128	broad.mit.edu	37	2	190333285	190333285	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:190333285G>A	ENST00000314761.4	+	15	1773	c.1713G>A	c.(1711-1713)ctG>ctA	p.L571L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	571						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GGAATCTGCTGAGCTGTGCAT	0.388																																						uc002uql.1		NaN																	0				ovary(2)	2						c.(1711-1713)CTG>CTA		WD repeat domain 75							192.0	171.0	178.0					2																	190333285		2203	4300	6503	SO:0001819	synonymous_variant	84128					nucleolus		g.chr2:190333285G>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1713G>A	2.37:g.190333285G>A						WDR75_uc002uqm.1_Silent_p.L507L|WDR75_uc002uqn.1_Silent_p.L349L|WDR75_uc002uqo.1_Silent_p.L349L	p.L571L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		15	1773	+			571			WD 9.		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	ENST00000314761.4	37	c.1713G>A	CCDS2298.1																																																																																				0.388	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1		NM_032168		8	130	0	0	0	0.008291	0	8	130		
FAM126B	285172	broad.mit.edu	37	2	201853102	201853102	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:201853102C>T	ENST00000418596.3	-	11	1061	c.874G>A	c.(874-876)Gat>Aat	p.D292N	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	292						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGTGTAGAATCAGGAGCATCA	0.378																																						uc002uws.3		NaN																	0				ovary(1)	1						c.(874-876)GAT>AAT		hypothetical protein LOC285172							118.0	118.0	118.0					2																	201853102		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201853102C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.874G>A	2.37:g.201853102C>T	ENSP00000393667:p.Asp292Asn					FAM126B_uc002uwu.2_Missense_Mutation_p.D210N|FAM126B_uc002uwv.2_Missense_Mutation_p.D292N	p.D292N	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			11	1062	-			292					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.874G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513154	0.64522	.	.	ENSG00000155744	ENST00000418596	T	0.76448	-1.02	5.68	5.68	0.88126	.	0.057151	0.64402	D	0.000001	T	0.78597	0.4308	N	0.14661	0.345	0.80722	D	1	D;D	0.65815	0.993;0.995	D;D	0.67725	0.953;0.95	T	0.75102	-0.3436	10	0.19590	T	0.45	-17.3409	19.7908	0.96456	0.0:1.0:0.0:0.0	.	98;292	B3KUG1;Q8IXS8	.;F126B_HUMAN	N	292	ENSP00000393667:D292N	ENSP00000393667:D292N	D	-	1	0	FAM126B	201561347	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.112000	0.77086	2.686000	0.91538	0.491000	0.48974	GAT		0.378	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3		NM_173822		9	89	0	0	0	0.000978	0	9	89		
MAP2	4133	broad.mit.edu	37	2	210560669	210560669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:210560669G>A	ENST00000360351.4	+	7	4281	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D1255N	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1259					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCAGATAACTGACCTGGGTGT	0.483																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NaN																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3775-3777)GAC>AAC		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						103.0	107.0	106.0					2																	210560669		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560669G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3775G>A	2.37:g.210560669G>A	ENSP00000353508:p.Asp1259Asn					MAP2_uc002vdc.1_Missense_Mutation_p.D1259N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D1255N	p.D1259N	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4023	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1259					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3775G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648325	0.29336	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26810	1.71;1.71	5.73	4.84	0.62591	MAP2/Tau projection (1);	0.205916	0.34580	N	0.003847	T	0.43010	0.1228	L	0.56769	1.78	0.38823	D	0.955684	D;D	0.54772	0.96;0.968	P;P	0.56960	0.711;0.81	T	0.44174	-0.9345	10	0.49607	T	0.09	-6.9876	16.7154	0.85397	0.0:0.1296:0.8704:0.0	.	1255;1259	P11137-3;P11137	.;MAP2_HUMAN	N	1259;1255	ENSP00000353508:D1259N;ENSP00000392164:D1255N	ENSP00000353508:D1259N	D	+	1	0	MAP2	210268914	1.000000	0.71417	0.854000	0.33618	0.074000	0.17049	5.102000	0.64572	1.413000	0.46997	0.650000	0.86243	GAC		0.483	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		NM_001039538		14	84	0	0	0	0.003163	0	14	84		
TMEM169	92691	broad.mit.edu	37	2	216965210	216965210	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:216965210C>G	ENST00000295658.4	+	3	1046	c.839C>G	c.(838-840)tCa>tGa	p.S280*	TMEM169_ENST00000437356.2_Nonsense_Mutation_p.S280*|TMEM169_ENST00000406027.2_Nonsense_Mutation_p.S280*|TMEM169_ENST00000454545.1_Nonsense_Mutation_p.S280*	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	280						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAATATCTCAAGCACTCTC	0.512																																						uc010zjr.1		NaN																	0				ovary(1)	1						c.(838-840)TCA>TGA		transmembrane protein 169							93.0	95.0	94.0					2																	216965210		2203	4300	6503	SO:0001587	stop_gained	92691					integral to membrane		g.chr2:216965210C>G	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.839C>G	2.37:g.216965210C>G	ENSP00000295658:p.Ser280*					TMEM169_uc010zjs.1_Nonsense_Mutation_p.S280*|TMEM169_uc002vfw.2_Nonsense_Mutation_p.S280*|TMEM169_uc002vfv.3_Nonsense_Mutation_p.S280*	p.S280*	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1165	+		Renal(323;0.0651)	280			Extracellular (Potential).		B2R8W6	Nonsense_Mutation	SNP	ENST00000295658.4	37	c.839C>G	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013928	0.97200	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.8645	17.4176	0.87505	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	.	S	+	2	0	TMEM169	216673455	1.000000	0.71417	0.935000	0.37517	0.306000	0.27790	7.301000	0.78850	2.572000	0.86782	0.655000	0.94253	TCA		0.512	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2		NM_138390		7	84	0	0	0	0.00308	0	7	84		
IHH	3549	broad.mit.edu	37	2	219925066	219925066	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:219925066G>A	ENST00000295731.6	-	1	123	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	42					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGAGTTTGCGTGGCGGTCGC	0.692																																						uc002vjo.1		NaN																	0				breast(1)	1						c.(124-126)CGC>TGC		Indian hedgehog homolog precursor							24.0	29.0	27.0					2																	219925066		2194	4296	6490	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219925066G>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.124C>T	2.37:g.219925066G>A	ENSP00000295731:p.Arg42Cys					hsa-mir-3131|MI0014151_5'Flank	p.R42C	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	124	-		Renal(207;0.0915)	42					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.124C>T	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309161	0.40895	.	.	ENSG00000163501	ENST00000295731	D	0.99663	-6.33	3.98	3.1	0.35709	Hedgehog/DD-peptidase (1);Hedgehog, N-terminal signaling domain (1);	0.327188	0.25225	N	0.032212	D	0.98912	0.9631	M	0.93375	3.41	0.53005	D	0.999963	P	0.40282	0.711	B	0.27076	0.076	D	0.97787	1.0236	10	0.87932	D	0	-6.179	9.787	0.40681	0.0988:0.0:0.9012:0.0	.	42	Q14623	IHH_HUMAN	C	42	ENSP00000295731:R42C	ENSP00000295731:R42C	R	-	1	0	IHH	219633310	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.048000	0.14078	0.889000	0.36185	0.555000	0.69702	CGC		0.692	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2		NM_002181		3	47	0	0	0	0.004672	0	3	47		
ABCB6	10058	broad.mit.edu	37	2	220077977	220077977	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:220077977G>A	ENST00000265316.3	-	12	2107	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	ABCB6_ENST00000439002.2_Silent_p.F551F	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	597	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCATAGCTGAAGTGCACGT	0.537																																						uc002vkc.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1789-1791)TTC>TTT		ATP-binding cassette, sub-family B, member 6							125.0	131.0	129.0					2																	220077977		2203	4300	6503	SO:0001819	synonymous_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220077977G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1791C>T	2.37:g.220077977G>A						ABCB6_uc010fwe.1_Silent_p.F551F	p.F597F	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2068	-		Renal(207;0.0474)	597			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	c.1791C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	1.780	-0.482063	0.04383	.	.	ENSG00000115657	ENST00000295750	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	T	0.63686	0.2532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61855	-0.6977	4	.	.	.	-19.4067	11.9809	0.53119	0.0851:0.0:0.9149:0.0	.	.	.	.	L	445	.	.	S	-	2	0	ABCB6	219786221	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	3.339000	0.52135	2.427000	0.82271	0.609000	0.83330	TCA		0.537	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2		NM_005689		6	45	0	0	0	0.001984	0	6	45		
FASTKD5	60493	broad.mit.edu	37	20	3128235	3128235	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3128235G>C	ENST00000380266.3	-	2	1803	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	494					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACCCTGGACTGAGAGCGAAAT	0.473																																						uc002whz.2		NaN																	0					0						c.(1480-1482)CTC>CTG		FAST kinase domains 5							62.0	62.0	62.0					20																	3128235		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128235G>C	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1482C>G	20.37:g.3128235G>C						uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.L494L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	1793	-			494					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.1482C>G	CCDS13048.1																																																																																				0.473	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2		NM_021826		6	74	0	0	0	0.001168	0	6	74		
ATRN	8455	broad.mit.edu	37	20	3562848	3562848	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3562848G>A	ENST00000262919.5	+	16	2679	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N	ATRN_ENST00000446916.2_Missense_Mutation_p.D871N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	871	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCTGGGAAGATATGTCCCC	0.468																																						uc002wim.2		NaN																	0				ovary(1)|breast(1)	2						c.(2611-2613)GAT>AAT		attractin isoform 1							119.0	110.0	113.0					20																	3562848		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3562848G>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2611G>A	20.37:g.3562848G>A	ENSP00000262919:p.Asp871Asn					ATRN_uc002wil.2_Missense_Mutation_p.D871N	p.D871N	NM_139321	NP_647537	O75882	ATRN_HUMAN			16	2701	+			871			Extracellular (Potential).|C-type lectin.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2611G>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437379	0.96168	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.62941	-0.01;-0.01	5.45	5.45	0.79879	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.096661	0.64402	D	0.000001	T	0.78805	0.4341	M	0.79475	2.455	0.80722	D	1	P;D	0.89917	0.768;1.0	B;D	0.87578	0.418;0.998	T	0.74156	-0.3756	10	0.15499	T	0.54	-17.345	18.8813	0.92357	0.0:0.0:1.0:0.0	.	871;871	O75882;O75882-2	ATRN_HUMAN;.	N	871;871;797	ENSP00000262919:D871N;ENSP00000416587:D871N	ENSP00000262919:D871N	D	+	1	0	ATRN	3510848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.796000	0.99103	2.539000	0.85634	0.650000	0.86243	GAT		0.468	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2		NM_139321		12	94	0	0	0	0.00245	0	12	94		
ATRN	8455	broad.mit.edu	37	20	3562949	3562949	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3562949G>A	ENST00000262919.5	+	16	2780	c.2712G>A	c.(2710-2712)ctG>ctA	p.L904L	ATRN_ENST00000446916.2_Silent_p.L904L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	904	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTCGGGGACTGAAGGCTGCAA	0.453																																						uc002wim.2		NaN																	0				ovary(1)|breast(1)	2						c.(2710-2712)CTG>CTA		attractin isoform 1							89.0	83.0	85.0					20																	3562949		2203	4300	6503	SO:0001819	synonymous_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3562949G>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2712G>A	20.37:g.3562949G>A						ATRN_uc002wil.2_Silent_p.L904L	p.L904L	NM_139321	NP_647537	O75882	ATRN_HUMAN			16	2802	+			904			Extracellular (Potential).|C-type lectin.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	c.2712G>A	CCDS13053.1																																																																																				0.453	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2		NM_139321		10	176	0	0	0	0.006214	0	10	176		
PYGB	5834	broad.mit.edu	37	20	25275652	25275652	+	Intron	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:25275652G>A	ENST00000216962.4	+	19	2422				ABHD12_ENST00000376542.3_Missense_Mutation_p.P391L|PYGB_ENST00000471359.1_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCTGGAACCTGGGCCCTGCTG	0.473											OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002wuq.2		NaN																	0				skin(1)	1						c.(1171-1173)CCA>CTA		abhydrolase domain containing 12 isoform b							142.0	142.0	142.0					20																	25275652		2203	4300	6503	SO:0001627	intron_variant	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25275652G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2313-588G>A	20.37:g.25275652G>A			OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ABHD12_uc002wur.2_Missense_Mutation_p.P390L|PYGB_uc002wup.2_Intron	p.P391L	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN			13	1310	-			Error:Variant_position_missing_in_Q8N2K0_after_alignment					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1172C>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	6.340	0.430764	0.12045	.	.	ENSG00000100997	ENST00000376542	T	0.20069	2.1	3.21	-5.59	0.02505	.	3.819600	0.00447	N	0.000090	T	0.13286	0.0322	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23762	-1.0179	9	0.62326	D	0.03	-13.2509	3.5709	0.07917	0.1084:0.1093:0.4769:0.3053	.	391	Q8N2K0-2	.	L	391	ENSP00000365725:P391L	ENSP00000365725:P391L	P	-	2	0	ABHD12	25223652	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.408000	0.02485	-1.259000	0.02468	0.561000	0.74099	CCA		0.473	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2		NM_002862		9	211	0	0	0	0.008291	0	9	211		
PIGU	128869	broad.mit.edu	37	20	33222438	33222438	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:33222438G>C	ENST00000374820.2	-	5	470	c.450C>G	c.(448-450)ttC>ttG	p.F150L	PIGU_ENST00000452740.2_Missense_Mutation_p.F170L|PIGU_ENST00000480175.1_5'UTR			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	170					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TAGTCAAAATGAAGAAAGCAA	0.403																																						uc002xas.2		NaN																	0					0						c.(508-510)TTC>TTG		phosphatidylinositol glycan anchor biosynthesis,							132.0	118.0	123.0					20																	33222438		2203	4300	6503	SO:0001583	missense	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33222438G>C	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.450C>G	20.37:g.33222438G>C	ENSP00000363953:p.Phe150Leu					PIGU_uc010zul.1_Missense_Mutation_p.F170L|PIGU_uc002xat.2_Missense_Mutation_p.F150L|PIGU_uc010gev.1_RNA	p.F170L	NM_080476	NP_536724	Q9H490	PIGU_HUMAN			6	710	-			170			Helical; (Potential).		Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	37	c.510C>G		.	.	.	.	.	.	.	.	.	.	G	31	5.065894	0.93898	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740	.	.	.	6.16	6.16	0.99307	.	0.045209	0.85682	D	0.000000	T	0.74612	0.3739	M	0.62088	1.915	0.80722	D	1	B;P;D	0.63046	0.0;0.954;0.992	B;D;P	0.63597	0.005;0.916;0.744	T	0.65763	-0.6089	9	0.12430	T	0.62	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	170;150;170	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	L	170;150;170	.	ENSP00000217446:F170L	F	-	3	2	PIGU	32686099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.178000	0.89690	2.937000	0.99478	0.650000	0.86243	TTC		0.403	PIGU-201	KNOWN	basic	protein_coding	protein_coding			NM_080476		7	91	0	0	0	0.008291	0	7	91		
NCOA6	23054	broad.mit.edu	37	20	33356291	33356291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:33356291C>A	ENST00000374796.2	-	6	3060	c.490G>T	c.(490-492)Gga>Tga	p.G164*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.G164*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	164	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATAGGAAATCCCGCCTCCATC	0.458																																						uc002xav.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(490-492)GGA>TGA		nuclear receptor coactivator 6							145.0	128.0	134.0					20																	33356291		2203	4300	6503	SO:0001587	stop_gained	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33356291C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.490G>T	20.37:g.33356291C>A	ENSP00000363929:p.Gly164*					NCOA6_uc002xaw.2_Nonsense_Mutation_p.G164*|NCOA6_uc010gew.1_Nonsense_Mutation_p.G164*	p.G164*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			6	3061	-			164			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.490G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	53	21.326138	0.99939	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	.	.	.	5.56	5.56	0.83823	.	0.319686	0.27622	N	0.018552	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.1939	12.8141	0.57654	0.0:0.9254:0.0:0.0746	.	.	.	.	X	164	.	ENSP00000351894:G164X	G	-	1	0	NCOA6	32819952	1.000000	0.71417	0.946000	0.38457	0.046000	0.14306	5.749000	0.68704	2.621000	0.88768	0.591000	0.81541	GGA		0.458	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		14	125	1	0	3.52763e-06	0.00499	3.7613e-06	14	125		
SRC	6714	broad.mit.edu	37	20	36022668	36022668	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:36022668G>A	ENST00000373578.2	+	7	890	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SRC_ENST00000373567.2_Missense_Mutation_p.E181K|SRC_ENST00000360723.4_Missense_Mutation_p.E187K|SRC_ENST00000373558.2_Missense_Mutation_p.E187K|SRC_ENST00000358208.4_Missense_Mutation_p.E181K|SRC_ENST00000445403.1_Missense_Mutation_p.E181K	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	181	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GCGAGAAAGTGAGACCACGAA	0.542																																						uc002xgx.2		NaN																	0				large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13						c.(541-543)GAG>AAG		proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)						88.0	84.0	85.0					20																	36022668		2203	4300	6503	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36022668G>A	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.541G>A	20.37:g.36022668G>A	ENSP00000362680:p.Glu181Lys					SRC_uc002xgy.2_Missense_Mutation_p.E181K	p.E181K	NM_005417	NP_005408	P12931	SRC_HUMAN			7	990	+		Myeloproliferative disorder(115;0.00878)	181			SH2.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.541G>A	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361208	0.82353	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	4.88	4.88	0.63580	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	M	0.93678	3.445	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.96665	0.9492	10	0.87932	D	0	.	15.5649	0.76284	0.0:0.0:1.0:0.0	.	181	P12931	SRC_HUMAN	K	181;181;187;181;181;187	ENSP00000408503:E181K;ENSP00000362680:E181K;ENSP00000353950:E187K;ENSP00000350941:E181K;ENSP00000362668:E181K;ENSP00000362659:E187K	ENSP00000350941:E181K	E	+	1	0	SRC	35456082	1.000000	0.71417	0.992000	0.48379	0.277000	0.26821	9.657000	0.98554	2.526000	0.85167	0.561000	0.74099	GAG		0.542	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1		NM_005417		8	85	0	0	0	0.006214	0	8	85		
L3MBTL1	26013	broad.mit.edu	37	20	42161536	42161536	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:42161536G>C	ENST00000427442.2	+	12	1501	c.1342G>C	c.(1342-1344)Gac>Cac	p.D448H	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.D380H|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.D448H|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.D380H|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.D380H			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	380					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGTGCACTTTGACAACTGGGA	0.582																																						uc010zwh.1		NaN																	0					0						c.(1342-1344)GAC>CAC		l(3)mbt-like isoform I							128.0	106.0	113.0					20																	42161536		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42161536G>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1342G>C	20.37:g.42161536G>C	ENSP00000402107:p.Asp448His					L3MBTL_uc002xkl.2_Missense_Mutation_p.D380H|L3MBTL_uc002xkm.2_Missense_Mutation_p.D380H|L3MBTL_uc010ggl.2_Missense_Mutation_p.D380H|L3MBTL_uc002xkn.1_Missense_Mutation_p.D139H|L3MBTL_uc002xko.2_Missense_Mutation_p.D32H	p.D448H	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		12	1388	+		Myeloproliferative disorder(115;0.00452)	380			MBT 2.|Interaction with monomethylated and dimethylated peptides.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1342G>C	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.360296|4.360296	0.82353|0.82353	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133|ENST00000445228	T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71;0.71|.	5.18|5.18	4.21|4.21	0.49690|0.49690	.|.	0.191231|.	0.53938|.	D|.	0.000047|.	D|D	0.87974|0.87974	0.6313|0.6313	H|H	0.97852|0.97852	4.09|4.09	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;1.0;1.0|.	D|D	0.91961|0.91961	0.5579|0.5579	10|5	0.87932|.	D|.	0|.	.|.	13.8019|13.8019	0.63206|0.63206	0.0:0.0:0.8453:0.1547|0.0:0.0:0.8453:0.1547	.|.	448;32;380;380|.	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1|.	.;.;.;.|.	H|F	448;448;380;380;380;166;32|70	ENSP00000402107:D448H;ENSP00000398516:D448H;ENSP00000362227:D380H;ENSP00000403316:D380H;ENSP00000362226:D380H;ENSP00000410139:D166H|.	ENSP00000362225:D32H|.	D|L	+|+	1|3	0|2	L3MBTL1|L3MBTL1	41594950|41594950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.598000|9.598000	0.98277|0.98277	1.354000|1.354000	0.45846|0.45846	0.591000|0.591000	0.81541|0.81541	GAC|TTG		0.582	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3		NM_032107		9	93	0	0	0	0.004482	0	9	93		
L3MBTL1	26013	broad.mit.edu	37	20	42162962	42162962	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:42162962G>A	ENST00000427442.2	+	15	1731	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	L3MBTL1_ENST00000444063.1_Silent_p.E456E|L3MBTL1_ENST00000418998.1_Silent_p.E524E|L3MBTL1_ENST00000373135.3_Silent_p.E456E|L3MBTL1_ENST00000373134.1_Silent_p.E456E			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	456					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGAAGCTGGAGGCTGTGGACC	0.632																																						uc010zwh.1		NaN																	0					0						c.(1570-1572)GAG>GAA		l(3)mbt-like isoform I							43.0	45.0	45.0					20																	42162962		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42162962G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1572G>A	20.37:g.42162962G>A						L3MBTL_uc002xkl.2_Silent_p.E456E|L3MBTL_uc002xkm.2_Silent_p.E456E|L3MBTL_uc010ggl.2_Silent_p.E456E|L3MBTL_uc002xkn.1_Silent_p.E215E|L3MBTL_uc002xko.2_Silent_p.E108E	p.E524E	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		15	1618	+		Myeloproliferative disorder(115;0.00452)	456			MBT 3.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1572G>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	9.863	1.196733	0.22037	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.39	2.25	0.28309	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55554	-0.8123	4	.	.	.	.	10.327	0.43798	0.2517:0.0:0.7483:0.0	.	.	.	.	K	147	.	.	R	+	2	0	L3MBTL1	41596376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.260000	0.43267	0.851000	0.35264	0.655000	0.94253	AGG		0.632	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3		NM_032107		6	101	0	0	0	0.004482	0	6	101		
NCOA3	8202	broad.mit.edu	37	20	46255875	46255875	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:46255875G>A	ENST00000371998.3	+	6	678	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	NCOA3_ENST00000341724.6_Missense_Mutation_p.E163K|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371997.3_Missense_Mutation_p.E163K|NCOA3_ENST00000372004.3_Missense_Mutation_p.E163K			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	163	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATCTTACATGAAGAAGACAG	0.313																																						uc002xtk.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(487-489)GAA>AAA		nuclear receptor coactivator 3 isoform a							89.0	86.0	87.0					20																	46255875		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46255875G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.487G>A	20.37:g.46255875G>A	ENSP00000361066:p.Glu163Lys					NCOA3_uc010ght.1_Missense_Mutation_p.E163K|NCOA3_uc002xtl.2_Missense_Mutation_p.E163K|NCOA3_uc002xtm.2_Missense_Mutation_p.E163K|NCOA3_uc002xtn.2_Missense_Mutation_p.E163K|NCOA3_uc010zyc.1_5'UTR	p.E163K	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			6	692	+			163			PAS.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.487G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572914	0.86542	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	6.17	5.22	0.72569	PAS (2);PAS fold (1);	0.046878	0.85682	D	0.000000	T	0.32912	0.0845	L	0.39514	1.22	0.58432	D	0.999998	D;P;P;P;P	0.67145	0.996;0.766;0.766;0.723;0.766	D;P;P;B;P	0.65987	0.94;0.561;0.561;0.425;0.561	T	0.02603	-1.1135	10	0.40728	T	0.16	-28.8691	17.7532	0.88441	0.0:0.1222:0.8778:0.0	.	163;167;163;163;163	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	K	163	ENSP00000342123:E163K;ENSP00000361073:E163K;ENSP00000361066:E163K;ENSP00000361065:E163K	ENSP00000345671:E163K	E	+	1	0	NCOA3	45689282	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	6.518000	0.73764	1.616000	0.50265	0.655000	0.94253	GAA		0.313	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		4	67	0	0	0	0.001168	0	4	67		
NCOA3	8202	broad.mit.edu	37	20	46255881	46255881	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:46255881G>A	ENST00000371998.3	+	6	684	c.493G>A	c.(493-495)Gac>Aac	p.D165N	NCOA3_ENST00000341724.6_Missense_Mutation_p.D165N|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371997.3_Missense_Mutation_p.D165N|NCOA3_ENST00000372004.3_Missense_Mutation_p.D165N			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	165	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.D165Y(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATGAAGAAGACAGAAAGGA	0.308																																						uc002xtk.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|lung(1)|skin(1)	5						c.(493-495)GAC>AAC		nuclear receptor coactivator 3 isoform a							86.0	83.0	84.0					20																	46255881		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46255881G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.493G>A	20.37:g.46255881G>A	ENSP00000361066:p.Asp165Asn					NCOA3_uc010ght.1_Missense_Mutation_p.D165N|NCOA3_uc002xtl.2_Missense_Mutation_p.D165N|NCOA3_uc002xtm.2_Missense_Mutation_p.D165N|NCOA3_uc002xtn.2_Missense_Mutation_p.D165N|NCOA3_uc010zyc.1_5'UTR	p.D165N	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			6	698	+			165			PAS.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.493G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825594	0.96996	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	6.17	6.17	0.99709	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D	0.69078	0.99;0.997;0.997;0.996;0.997	D;D;D;D;D	0.75484	0.922;0.986;0.986;0.976;0.986	T	0.77970	-0.2387	10	0.87932	D	0	-29.5936	20.8794	0.99867	0.0:0.0:1.0:0.0	.	165;169;165;165;165	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	N	165	ENSP00000342123:D165N;ENSP00000361073:D165N;ENSP00000361066:D165N;ENSP00000361065:D165N	ENSP00000345671:D165N	D	+	1	0	NCOA3	45689288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC		0.308	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		4	63	0	0	0	0.009096	0	4	63		
CSE1L	1434	broad.mit.edu	37	20	47706239	47706239	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:47706239G>A	ENST00000262982.2	+	19	2260	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	CSE1L_ENST00000396192.3_Missense_Mutation_p.E657K|CSE1L_ENST00000542325.1_Missense_Mutation_p.E496K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	713					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGCATTCTTAGAACGCGGTTC	0.418																																						uc002xty.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(2137-2139)GAA>AAA		CSE1 chromosome segregation 1-like protein							78.0	79.0	78.0					20																	47706239		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47706239G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2137G>A	20.37:g.47706239G>A	ENSP00000262982:p.Glu713Lys					CSE1L_uc010zyg.1_Missense_Mutation_p.E496K|CSE1L_uc010ghx.2_Missense_Mutation_p.E657K|CSE1L_uc010ghy.2_Missense_Mutation_p.E334K|CSE1L_uc010zyh.1_Missense_Mutation_p.E362K	p.E713K	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		19	2271	+			713					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.2137G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452958	0.43531	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.41065	1.01;1.01;1.01	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.042802	0.85682	D	0.000000	T	0.28699	0.0711	N	0.16708	0.43	0.80722	D	1	B;B;B;B;B	0.15930	0.007;0.015;0.001;0.001;0.003	B;B;B;B;B	0.15052	0.003;0.008;0.012;0.007;0.009	T	0.15607	-1.0431	10	0.06494	T	0.89	-20.5212	20.244	0.98389	0.0:0.0:1.0:0.0	.	402;496;657;657;713	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	311;713;496;657	ENSP00000262982:E713K;ENSP00000446477:E496K;ENSP00000379495:E657K	ENSP00000262982:E713K	E	+	1	0	CSE1L	47139646	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	7.465000	0.80898	2.865000	0.98341	0.655000	0.94253	GAA		0.418	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316		7	108	0	0	0	0.006214	0	7	108		
STAU1	6780	broad.mit.edu	37	20	47734330	47734330	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:47734330C>T	ENST00000371856.2	-	11	1903	c.1493G>A	c.(1492-1494)aGa>aAa	p.R498K	STAU1_ENST00000340954.7_Missense_Mutation_p.R417K|STAU1_ENST00000371828.3_Missense_Mutation_p.R423K|STAU1_ENST00000347458.5_Missense_Mutation_p.R417K|STAU1_ENST00000360426.4_Missense_Mutation_p.R417K|STAU1_ENST00000371792.1_Missense_Mutation_p.R415K|STAU1_ENST00000371802.1_Missense_Mutation_p.R423K	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	498					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCCTGGACTCTGGAAAGATA	0.498																																						uc002xud.2		NaN																	0				ovary(4)|kidney(1)	5						c.(1492-1494)AGA>AAA		staufen isoform b							62.0	62.0	62.0					20																	47734330		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734330C>T		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1493G>A	20.37:g.47734330C>T	ENSP00000360922:p.Arg498Lys					STAU1_uc002xua.2_Missense_Mutation_p.R417K|STAU1_uc002xub.2_Missense_Mutation_p.R423K|STAU1_uc002xuc.2_Missense_Mutation_p.R417K|STAU1_uc002xue.2_Missense_Mutation_p.R417K|STAU1_uc002xuf.2_Missense_Mutation_p.R423K|STAU1_uc002xug.2_Missense_Mutation_p.R498K	p.R498K	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1904	-			498					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1493G>A	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388604	0.42308	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.62	1.41	0.22369	.	0.553738	0.21975	N	0.066400	T	0.67933	0.2946	N	0.20685	0.6	0.30817	N	0.738223	B;B	0.14012	0.002;0.009	B;B	0.15870	0.002;0.014	T	0.62774	-0.6783	10	0.40728	T	0.16	-8.1697	8.242	0.31665	0.0:0.6085:0.2607:0.1309	.	498;423	O95793;Q5JW29	STAU1_HUMAN;.	K	423;417;498;417;417;417;423;415	ENSP00000360893:R423K;ENSP00000345425:R417K;ENSP00000360922:R498K;ENSP00000353604:R417K;ENSP00000323443:R417K;ENSP00000360867:R423K;ENSP00000360857:R415K	ENSP00000345425:R417K	R	-	2	0	STAU1	47167737	0.956000	0.32656	1.000000	0.80357	0.993000	0.82548	0.809000	0.27168	0.689000	0.31550	0.650000	0.86243	AGA		0.498	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1		NM_017453		9	68	0	0	0	0.006214	0	9	68		
APCDD1L	164284	broad.mit.edu	37	20	57042196	57042196	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:57042196G>T	ENST00000371149.3	-	3	937	c.707C>A	c.(706-708)cCc>cAc	p.P236H	APCDD1L_ENST00000439429.1_Missense_Mutation_p.P247H	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	236						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTAGCCCGTGGGCCGGTAGTG	0.731																																						uc002xze.1		NaN																	0				ovary(1)	1						c.(706-708)CCC>CAC		adenomatosis polyposis coli down-regulated							20.0	26.0	24.0					20																	57042196		2193	4290	6483	SO:0001583	missense	164284					integral to membrane		g.chr20:57042196G>T	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.707C>A	20.37:g.57042196G>T	ENSP00000360191:p.Pro236His					APCDD1L_uc010zzp.1_Missense_Mutation_p.P247H	p.P236H	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		3	893	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		236						Missense_Mutation	SNP	ENST00000371149.3	37	c.707C>A	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027441	0.54683	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.28454	1.61;1.61	5.27	3.32	0.38043	.	0.056906	0.64402	N	0.000001	T	0.33089	0.0851	M	0.68593	2.085	0.38094	D	0.937062	B;B	0.32382	0.246;0.368	B;B	0.32677	0.086;0.15	T	0.33369	-0.9871	10	0.87932	D	0	-26.8883	12.3221	0.54991	0.1252:0.0:0.8748:0.0	.	247;236	F5H6V6;Q8NCL9	.;APCDL_HUMAN	H	236;247	ENSP00000360191:P236H;ENSP00000413261:P247H	ENSP00000360191:P236H	P	-	2	0	APCDD1L	56475602	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.409000	0.80053	0.614000	0.30107	0.555000	0.69702	CCC		0.731	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2		NM_153360		14	81	1	0	3.32936e-07	0.006122	3.5575e-07	14	81		
TIAM1	7074	broad.mit.edu	37	21	32617916	32617916	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:32617916G>T	ENST00000286827.3	-	7	1943	c.1472C>A	c.(1471-1473)cCc>cAc	p.P491H	TIAM1_ENST00000541036.1_Missense_Mutation_p.P491H|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	491	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCGTGTTTGGGGATGCTGTT	0.552																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1471-1473)CCC>CAC		T-cell lymphoma invasion and metastasis 1							90.0	79.0	83.0					21																	32617916		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32617916G>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1472C>A	21.37:g.32617916G>T	ENSP00000286827:p.Pro491His					TIAM1_uc011adk.1_Missense_Mutation_p.P491H|TIAM1_uc011adl.1_Missense_Mutation_p.P491H|TIAM1_uc002yox.1_Missense_Mutation_p.P99H	p.P491H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			7	1944	-			491			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1472C>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294773	0.60086	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.29397	1.57;1.57	5.22	5.22	0.72569	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.58810	1.83	0.80722	D	1	B;P;P;P	0.34997	0.423;0.479;0.479;0.479	B;B;B;B	0.28638	0.055;0.092;0.092;0.092	T	0.20472	-1.0274	10	0.59425	D	0.04	.	18.9723	0.92719	0.0:0.0:1.0:0.0	.	491;491;332;491	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	H	491;332;491	ENSP00000286827:P491H;ENSP00000441570:P491H	ENSP00000286827:P491H	P	-	2	0	TIAM1	31539787	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.642000	0.83385	2.717000	0.92951	0.650000	0.86243	CCC		0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		5	56	1	0	4.096e-09	0.001168	4.44327e-09	5	56		
UMODL1	89766	broad.mit.edu	37	21	43496222	43496222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:43496222G>A	ENST00000408910.2	+	2	185	c.185G>A	c.(184-186)gGc>gAc	p.G62D	UMODL1_ENST00000400424.2_5'UTR|UMODL1_ENST00000400427.1_5'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.G62D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	62	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGTCCTGCGGCGGCTGGATC	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NaN																	0				ovary(2)|skin(1)	3						c.(184-186)GGC>GAC		uromodulin-like 1 isoform 1 precursor							67.0	77.0	74.0					21																	43496222		1999	4160	6159	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43496222G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.185G>A	21.37:g.43496222G>A	ENSP00000386147:p.Gly62Asp					UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.G62D|uc002zah.1_RNA	p.G62D	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			2	185	+			62			Extracellular (Potential).|EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.185G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181187	0.57800	.	.	ENSG00000177398	ENST00000408989;ENST00000408910	T;T	0.80566	-1.39;-1.36	4.44	4.44	0.53790	EMI domain (2);	0.000000	0.46145	D	0.000301	D	0.84224	0.5425	L	0.34521	1.04	0.46954	D	0.999261	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86178	0.1604	10	0.87932	D	0	-36.1342	14.8484	0.70277	0.0:0.0:1.0:0.0	.	62;62	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	D	62	ENSP00000386126:G62D;ENSP00000386147:G62D	ENSP00000386147:G62D	G	+	2	0	UMODL1	42369291	1.000000	0.71417	0.939000	0.37840	0.284000	0.27059	5.682000	0.68182	2.394000	0.81467	0.655000	0.94253	GGC		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2				5	77	0	0	0	0.001168	0	5	77		
ABCG1	9619	broad.mit.edu	37	21	43691217	43691217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:43691217C>G	ENST00000361802.2	+	3	469	c.324C>G	c.(322-324)ttC>ttG	p.F108L	ABCG1_ENST00000398457.2_Missense_Mutation_p.F110L|ABCG1_ENST00000398449.3_Missense_Mutation_p.F108L|ABCG1_ENST00000398437.1_Missense_Mutation_p.F254L|ABCG1_ENST00000343687.3_Missense_Mutation_p.F119L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.F216L|ABCG1_ENST00000347800.2_Missense_Mutation_p.F105L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	108	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCGGGAAGTTCAATAGTGGTG	0.473																																						uc002zaq.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(322-324)TTC>TTG		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						117.0	117.0	117.0					21																	43691217		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43691217C>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.324C>G	21.37:g.43691217C>G	ENSP00000354995:p.Phe108Leu					ABCG1_uc002zan.2_Missense_Mutation_p.F110L|ABCG1_uc002zam.2_Missense_Mutation_p.F86L|ABCG1_uc002zao.2_Missense_Mutation_p.F105L|ABCG1_uc002zap.2_Missense_Mutation_p.F108L|ABCG1_uc002zar.2_Missense_Mutation_p.F119L|ABCG1_uc011aev.1_Missense_Mutation_p.F119L	p.F108L	NM_004915	NP_004906	P45844	ABCG1_HUMAN			3	430	+			108			Cytoplasmic (Potential).|ABC transporter.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.324C>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238744	0.79800	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	D;D;D;D;D;D;D;D	0.92149	-2.94;-2.94;-2.98;-2.94;-2.94;-2.94;-2.94;-2.94	5.13	5.13	0.70059	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92967	0.7762	N	0.25890	0.77	0.80722	D	1	D;B;D;B;B;D	0.76494	0.965;0.034;0.999;0.034;0.16;0.99	P;B;D;B;B;D	0.72982	0.62;0.108;0.972;0.108;0.32;0.979	D	0.92069	0.5663	9	.	.	.	-46.5424	18.5718	0.91138	0.0:1.0:0.0:0.0	.	119;119;108;108;105;110	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	L	110;105;108;108;108;119;254;216	ENSP00000381475:F110L;ENSP00000291524:F105L;ENSP00000414541:F108L;ENSP00000381467:F108L;ENSP00000354995:F108L;ENSP00000339744:F119L;ENSP00000381464:F254L;ENSP00000343820:F216L	.	F	+	3	2	ABCG1	42564286	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.503000	0.60407	2.547000	0.85894	0.655000	0.94253	TTC		0.473	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2		NM_207174		12	125	0	0	0	0.003163	0	12	125		
CRYBB3	1417	broad.mit.edu	37	22	25599847	25599847	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:25599847C>G	ENST00000215855.2	+	4	392	c.312C>G	c.(310-312)ctC>ctG	p.L104L	CRYBB3_ENST00000404334.1_Silent_p.L104L	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	104	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						TTCTGTCCCTCCGGCCTCTGA	0.582																																						uc003abo.1		NaN																	0					0						c.(310-312)CTC>CTG		crystallin, beta B3							141.0	140.0	140.0					22																	25599847		2203	4300	6503	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25599847C>G		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.312C>G	22.37:g.25599847C>G							p.L104L	NM_004076	NP_004067	P26998	CRBB3_HUMAN			4	384	+			104			Beta/gamma crystallin 'Greek key' 2.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.312C>G	CCDS13830.1																																																																																				0.582	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1		NM_004076		27	260	0	0	0	0.002836	0	27	260		
PLA2G3	50487	broad.mit.edu	37	22	31533774	31533774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:31533774G>A	ENST00000215885.3	-	4	1240	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	330					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ATAGGGTCCTGGAGGGCTGTG	0.627																																						uc003aka.2		NaN																	0					0						c.(988-990)CAG>TAG		phospholipase A2, group III precursor							115.0	125.0	122.0					22																	31533774		2203	4300	6503	SO:0001587	stop_gained	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31533774G>A	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.988C>T	22.37:g.31533774G>A	ENSP00000215885:p.Gln330*						p.Q330*	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			4	1117	-			330					O95768	Nonsense_Mutation	SNP	ENST00000215885.3	37	c.988C>T	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918000	0.92249	.	.	ENSG00000100078	ENST00000215885	.	.	.	4.9	3.86	0.44501	.	1.135820	0.06351	N	0.709992	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.7723	8.4624	0.32936	0.1112:0.0:0.8887:0.0	.	.	.	.	X	330	.	ENSP00000215885:Q330X	Q	-	1	0	PLA2G3	29863774	0.000000	0.05858	0.026000	0.17262	0.040000	0.13550	-0.144000	0.10280	1.377000	0.46286	0.655000	0.94253	CAG		0.627	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1		NM_015715		12	176	0	0	0	0.003163	0	12	176		
MYH9	4627	broad.mit.edu	37	22	36712697	36712697	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:36712697C>T	ENST00000216181.5	-	12	1475	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	415	Myosin motor.				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						TGGCCAAGGCCTCGATGGCAA	0.577			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		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				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1243-1245)GAG>GAA		myosin, heavy polypeptide 9, non-muscle							58.0	55.0	56.0					22																	36712697		2203	4300	6503	SO:0001819	synonymous_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.chr22:36712697C>T		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.1245G>A	22.37:g.36712697C>T						MYH9_uc003aph.1_Silent_p.E279E	p.E415E	NM_002473	NP_002464	P35579	MYH9_HUMAN			12	1476	-			415			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1245G>A	CCDS13927.1																																																																																				0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		5	59	0	0	0	0.001168	0	5	59		
ADSL	158	broad.mit.edu	37	22	40755278	40755278	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:40755278C>G	ENST00000216194.7	+	6	725	c.669C>G	c.(667-669)gaC>gaG	p.D223E	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.D237E|ADSL_ENST00000342312.6_Missense_Mutation_p.D223E	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	223					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGCAGCTTGACAAGATGGTGA	0.443																																					Colon(4;65 130 1097 1516)	uc003ayp.3		NaN																	0				ovary(1)	1						c.(667-669)GAC>GAG		adenylosuccinate lyase isoform a							275.0	258.0	263.0					22																	40755278		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40755278C>G	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.669C>G	22.37:g.40755278C>G	ENSP00000216194:p.Asp223Glu					ADSL_uc003ays.3_Missense_Mutation_p.D223E|ADSL_uc003ayq.3_Missense_Mutation_p.D223E|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.D208E|ADSL_uc010gyb.1_RNA	p.D223E	NM_000026	NP_000017	P30566	PUR8_HUMAN			6	728	+			223					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.669C>G	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036204	0.75617	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	T;T;T	0.72505	-0.66;-0.66;-0.66	6.1	5.03	0.67393	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.041882	0.85682	D	0.000000	T	0.70596	0.3242	L	0.39326	1.205	0.80722	D	1	P;B;P;P	0.40250	0.709;0.02;0.493;0.493	P;B;B;B	0.46975	0.533;0.151;0.44;0.44	T	0.70189	-0.4940	10	0.45353	T	0.12	-30.8224	16.9495	0.86240	0.0:0.8726:0.1274:0.0	.	237;223;223;223	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	E	223;237;43;223	ENSP00000216194:D223E;ENSP00000390107:D237E;ENSP00000341429:D223E	ENSP00000216194:D223E	D	+	3	2	ADSL	39085224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.194000	0.42668	2.902000	0.99343	0.650000	0.86243	GAC		0.443	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1		NM_000026		13	186	0	0	0	0.00499	0	13	186		
SCUBE1	80274	broad.mit.edu	37	22	43619192	43619192	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:43619192G>A	ENST00000360835.4	-	11	1364	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	413					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCGGGGGGAGGTCTTGGCGCG	0.642																																						uc003bdt.1		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1237-1239)ACC>ATC		signal peptide, CUB domain, EGF-like 1							80.0	88.0	85.0					22																	43619192		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43619192G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1238C>T	22.37:g.43619192G>A	ENSP00000354080:p.Thr413Ile						p.T413I	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			11	1326	-		all_neural(38;0.0414)|Ovarian(80;0.07)	413					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1238C>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570876	0.13623	.	.	ENSG00000159307	ENST00000360835	D	0.85258	-1.96	5.14	1.75	0.24633	.	0.353243	0.32753	N	0.005691	T	0.76205	0.3955	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67094	-0.5757	10	0.40728	T	0.16	.	11.6369	0.51209	0.0:0.2516:0.6178:0.1306	.	413	Q8IWY4	SCUB1_HUMAN	I	413	ENSP00000354080:T413I	ENSP00000354080:T413I	T	-	2	0	SCUBE1	41949136	1.000000	0.71417	0.000000	0.03702	0.019000	0.09904	5.733000	0.68571	0.283000	0.22279	0.561000	0.74099	ACC		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3		NM_173050		15	205	0	0	0	0.008871	0	15	205		
HRH1	3269	broad.mit.edu	37	3	11301168	11301168	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:11301168C>T	ENST00000397056.1	+	3	636	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	HRH1_ENST00000438284.2_Silent_p.L149L|HRH1_ENST00000431010.2_Silent_p.L149L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	149					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGCCACCATTCTGGGGGCCTG	0.542																																						uc010hdr.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(445-447)CTG>TTG		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						76.0	81.0	79.0					3																	11301168		2203	4300	6503	SO:0001819	synonymous_variant	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301168C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.445C>T	3.37:g.11301168C>T						HRH1_uc010hds.2_Silent_p.L149L|HRH1_uc010hdt.2_Silent_p.L149L|HRH1_uc003bwb.3_Silent_p.L149L	p.L149L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	787	+			149			Helical; Name=4; (Potential).		A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	c.445C>T	CCDS2604.1																																																																																				0.542	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2				6	97	0	0	0	0.001168	0	6	97		
NUP210	23225	broad.mit.edu	37	3	13401814	13401814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:13401814G>T	ENST00000254508.5	-	15	2192	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	704					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGTGTTGCTGATAATTCCGG	0.577																																						uc003bxv.1		NaN																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(2110-2112)CAG>AAG		nucleoporin 210 precursor							84.0	76.0	78.0					3																	13401814		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13401814G>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2110C>A	3.37:g.13401814G>T	ENSP00000254508:p.Gln704Lys					NUP210_uc003bxx.2_Missense_Mutation_p.Q376K	p.Q704K	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			15	2193	-	all_neural(104;0.187)		704			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.2110C>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071632	0.36566	.	.	ENSG00000132182	ENST00000254508	T	0.19806	2.12	5.66	4.78	0.61160	.	0.237937	0.36740	N	0.002421	T	0.14527	0.0351	L	0.47716	1.5	0.29215	N	0.874296	B;B	0.29805	0.257;0.167	B;B	0.24155	0.051;0.034	T	0.07908	-1.0748	10	0.31617	T	0.26	-19.7555	3.8793	0.09071	0.2138:0.0:0.5833:0.2029	.	704;704	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	K	704	ENSP00000254508:Q704K	ENSP00000254508:Q704K	Q	-	1	0	NUP210	13376814	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.427000	0.59888	2.669000	0.90835	0.655000	0.94253	CAG		0.577	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		NM_024923		18	79	1	0	1.96292e-10	0.010504	2.14802e-10	18	79		
ARPP21	10777	broad.mit.edu	37	3	35729240	35729240	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:35729240C>A	ENST00000187397.4	+	6	727	c.271C>A	c.(271-273)Cat>Aat	p.H91N	ARPP21_ENST00000337271.5_Missense_Mutation_p.H91N|ARPP21_ENST00000417925.1_Missense_Mutation_p.H91N|ARPP21_ENST00000458225.1_Missense_Mutation_p.H91N|ARPP21_ENST00000444190.1_Missense_Mutation_p.H91N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	91					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGAATCAATTCATTTACAGCT	0.338																																						uc003cgb.2		NaN																	0				ovary(2)|skin(1)	3						c.(271-273)CAT>AAT		cyclic AMP-regulated phosphoprotein, 21 kD							53.0	57.0	56.0					3																	35729240		2198	4291	6489	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35729240C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.271C>A	3.37:g.35729240C>A	ENSP00000187397:p.His91Asn					ARPP21_uc003cga.2_Missense_Mutation_p.H91N|ARPP21_uc011axy.1_Missense_Mutation_p.H91N|ARPP21_uc003cgf.2_5'Flank	p.H91N	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			6	535	+			91					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.271C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530808	0.64860	.	.	ENSG00000172995	ENST00000450234;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000438577;ENST00000413378;ENST00000417925	T;T;T;T;T;T;T	0.44083	0.93;1.95;1.97;1.97;1.96;0.93;1.95	5.78	5.78	0.91487	.	0.272577	0.36740	N	0.002437	T	0.37348	0.1000	L	0.34521	1.04	0.42278	D	0.992085	P;B;P	0.38195	0.622;0.339;0.481	B;B;B	0.36289	0.221;0.11;0.221	T	0.14615	-1.0466	10	0.42905	T	0.14	-23.2806	20.0175	0.97485	0.0:1.0:0.0:0.0	.	91;91;91	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	N	91	ENSP00000411644:H91N;ENSP00000414351:H91N;ENSP00000337792:H91N;ENSP00000405276:H91N;ENSP00000187397:H91N;ENSP00000390169:H91N;ENSP00000412326:H91N	ENSP00000187397:H91N	H	+	1	0	ARPP21	35704244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.530000	0.73816	2.730000	0.93505	0.650000	0.86243	CAT		0.338	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2		NM_198399		11	92	1	0	1.15088e-07	0.004007	1.23503e-07	11	92		
TRANK1	9881	broad.mit.edu	37	3	36896768	36896768	+	Missense_Mutation	SNP	C	C	A	rs368037612		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:36896768C>A	ENST00000429976.2	-	12	4560	c.4313G>T	c.(4312-4314)cGc>cTc	p.R1438L	TRANK1_ENST00000301807.6_Missense_Mutation_p.R888L|TRANK1_ENST00000428977.2_Missense_Mutation_p.R888L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1438							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAACAGAGAGCGCAGATCGCT	0.542																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2662-2664)CGC>CTC		lupus brain antigen 1							117.0	113.0	114.0					3																	36896768		2065	4201	6266	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896768C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4313G>T	3.37:g.36896768C>A	ENSP00000416168:p.Arg1438Leu						p.R888L	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2965	-			1438					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2663G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981764	0.34942	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.80653	-1.4;-1.4;-1.4	5.54	4.64	0.57946	.	0.327834	0.25386	N	0.031057	T	0.79009	0.4374	M	0.72118	2.19	0.33577	D	0.599334	B	0.16396	0.017	B	0.21151	0.033	T	0.81057	-0.1105	10	0.45353	T	0.12	.	11.9372	0.52880	0.1409:0.7311:0.128:0.0	.	1438	O15050	TRNK1_HUMAN	L	888;1438;888	ENSP00000416826:R888L;ENSP00000416168:R1438L;ENSP00000301807:R888L	ENSP00000301807:R888L	R	-	2	0	TRANK1	36871772	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	2.591000	0.46163	1.425000	0.47237	0.561000	0.74099	CGC		0.542	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		21	133	1	0	9.95505e-16	0.002299	1.1039e-15	21	133		
VILL	50853	broad.mit.edu	37	3	38048129	38048129	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:38048129G>A	ENST00000283713.6	+	19	2661	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	VILL_ENST00000465644.1_Missense_Mutation_p.E517K|VILL_ENST00000383759.2_Missense_Mutation_p.E799K			O15195	VILL_HUMAN	villin-like	799	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGCGCCGGGAACAACTGAT	0.657																																						uc003chj.2		NaN																	0					0						c.(2395-2397)GAA>AAA		villin-like protein							30.0	36.0	34.0					3																	38048129		2201	4294	6495	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048129G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2395G>A	3.37:g.38048129G>A	ENSP00000283713:p.Glu799Lys					VILL_uc003chl.2_Missense_Mutation_p.E799K	p.E799K	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2681	+			799			HP.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2395G>A	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	g	13.27	2.185601	0.38609	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.14893	2.57;2.57;2.47	4.19	3.31	0.37934	Villin headpiece (3);	1.986670	0.02015	N	0.047353	T	0.23492	0.0568	M	0.70903	2.155	0.40883	D	0.984011	B	0.28439	0.212	B	0.25140	0.058	T	0.28364	-1.0046	10	0.19590	T	0.45	-3.2252	9.4923	0.38967	0.1036:0.0:0.8964:0.0	.	799	O15195	VILL_HUMAN	K	799;799;785;517	ENSP00000283713:E799K;ENSP00000373266:E799K;ENSP00000422096:E517K	ENSP00000283713:E799K	E	+	1	0	VILL	38023133	0.525000	0.26290	0.212000	0.23672	0.082000	0.17680	0.758000	0.26447	0.910000	0.36722	0.457000	0.33378	GAA		0.657	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3		NM_015873		21	74	0	0	0	0.00278	0	21	74		
ACAA1	30	broad.mit.edu	37	3	38163892	38163892	+	IGR	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:38163892C>G	ENST00000333167.8	-	0	1785				Y_RNA_ENST00000365095.1_RNA|DLEC1_ENST00000346219.3_Silent_p.L1711L|DLEC1_ENST00000308059.6_Missense_Mutation_p.H1753D|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000452631.2_Missense_Mutation_p.H1756D	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATGTTGCCTCACCAGCCCTG	0.602																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(5257-5259)CAC>GAC		deleted in lung and esophageal cancer 1 isoform							52.0	57.0	55.0					3																	38163892		1994	4171	6165	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163892C>G	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163892C>G						DLEC1_uc003chp.1_Silent_p.L1711L|DLEC1_uc010hgv.1_Missense_Mutation_p.H1756D|DLEC1_uc003chr.1_Missense_Mutation_p.H824D|DLEC1_uc003chs.1_Silent_p.L268L	p.H1753D	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	37	5278	+			1753					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.5257C>G	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	9.055	0.993033	0.19043	.	.	ENSG00000008226	ENST00000308059;ENST00000452631	T;T	0.04970	3.52;3.74	3.92	-2.98	0.05513	.	.	.	.	.	T	0.04497	0.0123	.	.	.	0.09310	N	1	B;B;B	0.32160	0.358;0.144;0.218	B;B;B	0.31101	0.117;0.024;0.124	T	0.37753	-0.9692	8	0.49607	T	0.09	.	6.8632	0.24077	0.0:0.239:0.143:0.618	.	1756;1753;1753	F8W6T4;B7ZW06;Q9Y238	.;.;DLEC1_HUMAN	D	1753;1756	ENSP00000308597:H1753D;ENSP00000410427:H1756D	ENSP00000308597:H1753D	H	+	1	0	DLEC1	38138896	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.946000	0.03905	-0.536000	0.06298	-0.258000	0.10820	CAC		0.602	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1		NM_001607		7	121	0	0	0	0.006214	0	7	121		
TRAK1	22906	broad.mit.edu	37	3	42226217	42226217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:42226217C>A	ENST00000327628.5	+	4	804	c.404C>A	c.(403-405)tCg>tAg	p.S135*	TRAK1_ENST00000396175.1_Nonsense_Mutation_p.S77*|TRAK1_ENST00000341421.3_Nonsense_Mutation_p.S77*|TRAK1_ENST00000449246.1_Nonsense_Mutation_p.S61*|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	135	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGGCCAGTCGTTGTTGAAG	0.507																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2		NaN																	0				ovary(1)	1						c.(403-405)TCG>TAG		OGT(O-Glc-NAc transferase)-interacting protein							111.0	114.0	113.0					3																	42226217		2203	4300	6503	SO:0001587	stop_gained	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42226217C>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.404C>A	3.37:g.42226217C>A	ENSP00000328998:p.Ser135*					TRAK1_uc011azh.1_Nonsense_Mutation_p.S135*|TRAK1_uc011azi.1_Nonsense_Mutation_p.S135*|TRAK1_uc003ckz.3_Nonsense_Mutation_p.S61*|TRAK1_uc011azj.1_Nonsense_Mutation_p.S61*|TRAK1_uc003cla.2_Nonsense_Mutation_p.S77*	p.S135*	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			4	620	+			135			Potential.|HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Nonsense_Mutation	SNP	ENST00000327628.5	37	c.404C>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498119	0.97616	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	.	.	.	4.96	4.96	0.65561	.	0.244324	0.35407	N	0.003222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6312	0.88108	0.0:1.0:0.0:0.0	.	.	.	.	X	135;135;61;77;77	.	ENSP00000328998:S135X	S	+	2	0	TRAK1	42201221	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.603000	0.82811	2.458000	0.83093	0.632000	0.83419	TCG		0.507	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1		NM_014965		12	180	1	0	1.36491e-13	0.001855	1.50684e-13	12	180		
TRAK1	22906	broad.mit.edu	37	3	42226284	42226284	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:42226284C>T	ENST00000327628.5	+	4	871	c.471C>T	c.(469-471)atC>atT	p.I157I	TRAK1_ENST00000396175.1_Silent_p.I99I|TRAK1_ENST00000341421.3_Silent_p.I99I|TRAK1_ENST00000449246.1_Silent_p.I83I|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	157	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGGAACACATCAGGGAGGAGG	0.582																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2		NaN																	0				ovary(1)	1						c.(469-471)ATC>ATT		OGT(O-Glc-NAc transferase)-interacting protein							110.0	110.0	110.0					3																	42226284		2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42226284C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.471C>T	3.37:g.42226284C>T						TRAK1_uc011azh.1_Silent_p.I157I|TRAK1_uc011azi.1_Silent_p.I157I|TRAK1_uc003ckz.3_Silent_p.I83I|TRAK1_uc011azj.1_Silent_p.I83I|TRAK1_uc003cla.2_Silent_p.I99I	p.I157I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			4	687	+			157			Potential.|HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.471C>T	CCDS43072.1																																																																																				0.582	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1		NM_014965		10	165	0	0	0	0.000978	0	10	165		
PTH1R	5745	broad.mit.edu	37	3	46942574	46942574	+	Splice_Site	SNP	G	G	A	rs201363790		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:46942574G>A	ENST00000313049.5	+	9	1251	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	PTH1R_ENST00000430002.2_Splice_Site_p.G350R|PTH1R_ENST00000449590.1_Splice_Site_p.G350R|PTH1R_ENST00000418619.1_Splice_Site_p.G350R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	350					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGCCAACACCGGGTAGGTCCA	0.627																																						uc003cqm.2		NaN																	0				breast(1)	1						c.(1048-1050)GGG>AGG		parathyroid hormone receptor 1 precursor							50.0	37.0	41.0					3																	46942574		2200	4298	6498	SO:0001630	splice_region_variant	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46942574G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1049+1G>A	3.37:g.46942574G>A						PTH1R_uc003cqn.2_Missense_Mutation_p.G350R	p.G350R	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			11	1251	+			350			Extracellular (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.1048G>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	2.194	-0.384696	0.04966	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.58	3.71	0.42584	GPCR, family 2-like (1);	.	.	.	.	T	0.13927	0.0337	N	0.05306	-0.075	0.40516	D	0.980789	B	0.13145	0.007	B	0.09377	0.004	T	0.11842	-1.0571	9	0.05525	T	0.97	.	7.5303	0.27679	0.0905:0.167:0.7425:0.0	.	350	Q03431	PTH1R_HUMAN	R	350;350;350;350;350;624	ENSP00000402723:G350R;ENSP00000411424:G350R;ENSP00000400977:G350R;ENSP00000413774:G350R;ENSP00000321999:G350R	ENSP00000321999:G350R	G	+	1	0	PTH1R	46917578	0.089000	0.21612	1.000000	0.80357	0.944000	0.59088	0.494000	0.22467	1.149000	0.42402	-0.258000	0.10820	GGG		0.627	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1		NM_000316	Missense_Mutation	3	15	0	0	0	0.004672	0	3	15		
QARS	5859	broad.mit.edu	37	3	49137079	49137079	+	Splice_Site	SNP	G	G	A	rs141072684		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:49137079G>A	ENST00000306125.6	-	16	1727	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Splice_Site_p.R453C			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TAGGAAGAGCGTCTGGGGTGG	0.572																																						uc003cvx.2		NaN																	0				ovary(1)	1						c.(1390-1392)CGC>TGC		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	65.0	65.0		1390	5.9	1.0	3	dbSNP_134	65	0,8600		0,0,4300	no	missense-near-splice	QARS	NM_005051.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	464/776	49137079	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137079G>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1389-1C>T	3.37:g.49137079G>A						QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.R319C|QARS_uc003cvy.2_Missense_Mutation_p.R319C|QARS_uc011bce.1_Missense_Mutation_p.R453C	p.R464C	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	1395	-			464					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1390C>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803982	0.90623	2.27E-4	0.0	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.23950	1.88;1.88	5.86	5.86	0.93980	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.047372	0.85682	D	0.000000	T	0.72326	0.3446	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84343	0.0528	10	0.87932	D	0	-17.4302	20.1865	0.98220	0.0:0.0:1.0:0.0	.	453;464	B4DWJ2;P47897	.;SYQ_HUMAN	C	464;453	ENSP00000307567:R464C;ENSP00000390015:R453C	ENSP00000307567:R464C	R	-	1	0	QARS	49112083	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.169000	0.94788	2.775000	0.95449	0.655000	0.94253	CGC		0.572	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2		NM_005051	Missense_Mutation	16	44	0	0	0	0.00499	0	16	44		
ITIH3	3699	broad.mit.edu	37	3	52836749	52836749	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:52836749C>T	ENST00000449956.2	+	13	1642	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	546					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTGCAGGAGCGGGACTACAT	0.602																																						uc003dfv.2		NaN																	0				ovary(2)|liver(1)	3						c.(1636-1638)CGG>TGG		inter-alpha (globulin) inhibitor H3							88.0	97.0	94.0					3																	52836749		2079	4238	6317	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52836749C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1636C>T	3.37:g.52836749C>T	ENSP00000415769:p.Arg546Trp					ITIH3_uc011bek.1_Intron	p.R546W	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	13	1672	+			546					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1636C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028116	0.75390	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000449956	T	0.12361	2.69	5.28	4.4	0.53042	.	0.763663	0.12612	N	0.453814	T	0.22322	0.0538	M	0.75777	2.31	0.09310	N	0.999999	D	0.59767	0.986	P	0.44860	0.462	T	0.12578	-1.0542	9	.	.	.	-5.6834	12.6388	0.56698	0.1659:0.8341:0.0:0.0	.	546	Q06033	ITIH3_HUMAN	W	546;534;541;546	ENSP00000415769:R546W	.	R	+	1	2	ITIH3	52811789	0.440000	0.25618	0.767000	0.31495	0.894000	0.52154	0.900000	0.28431	1.446000	0.47643	0.655000	0.94253	CGG		0.602	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2		NM_002217		8	97	0	0	0	0.006214	0	8	97		
SLMAP	7871	broad.mit.edu	37	3	57908654	57908654	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:57908654G>A	ENST00000428312.1	+	21	2392	c.2298G>A	c.(2296-2298)ttG>ttA	p.L766L	SLMAP_ENST00000295951.3_Silent_p.L749L|SLMAP_ENST00000295952.3_Silent_p.L749L|SLMAP_ENST00000495364.1_Silent_p.L300L|SLMAP_ENST00000449503.2_Silent_p.L728L|SLMAP_ENST00000494088.1_Silent_p.L259L|SLMAP_ENST00000442599.2_Silent_p.L234L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	766					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AACTGAAGTTGAAGTTTGAAA	0.368																																						uc003dje.1		NaN																	0					0						c.(2296-2298)TTG>TTA		sarcolemma associated protein							81.0	77.0	78.0					3																	57908654		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57908654G>A	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.2298G>A	3.37:g.57908654G>A						SLMAP_uc003djd.1_Silent_p.L749L|SLMAP_uc003djf.1_Silent_p.L728L|SLMAP_uc003djg.1_Silent_p.L360L|SLMAP_uc011bez.1_Silent_p.L234L|SLMAP_uc011bfa.1_Silent_p.L300L|SLMAP_uc003dji.1_Silent_p.L300L|SLMAP_uc011bfb.1_Silent_p.L300L|SLMAP_uc011bfc.1_Silent_p.L259L	p.L766L	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	21	2503	+			766			Cytoplasmic (Potential).|Potential.		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.2298G>A		.	.	.	.	.	.	.	.	.	.	G	8.398	0.841225	0.16891	.	.	ENSG00000163681	ENST00000416658	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56829	-0.7914	4	.	.	.	-3.3206	6.952	0.24550	0.0676:0.1265:0.6747:0.1312	.	.	.	.	K	374	.	.	E	+	1	0	SLMAP	57883694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.363000	0.34159	2.941000	0.99782	0.655000	0.94253	GAA		0.368	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1		NM_007159		4	77	0	0	0	0.009096	0	4	77		
CNTN3	5067	broad.mit.edu	37	3	74535680	74535680	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:74535680T>C	ENST00000263665.6	-	3	312	c.285A>G	c.(283-285)acA>acG	p.T95T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	95	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGTAAGTTCCTGTATCCCAAT	0.373																																						uc003dpm.1		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(283-285)ACA>ACG		contactin 3 precursor							142.0	138.0	139.0					3																	74535680		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535680T>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.285A>G	3.37:g.74535680T>C							p.T95T	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	3	365	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	95			Ig-like C2-type 1.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.285A>G	CCDS33790.1																																																																																				0.373	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872		5	88	0	0	0	0.001984	0	5	88		
GBE1	2632	broad.mit.edu	37	3	81586104	81586104	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:81586104C>T	ENST00000429644.2	-	13	2404	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	GBE1_ENST00000489715.1_Missense_Mutation_p.M546I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	587					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.M587I(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCAATCTATTCATATCCCTGT	0.413									Glycogen Storage Disease, type IV																													uc003dqg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)	3						c.(1759-1761)ATG>ATA		glucan (1,4-alpha-), branching enzyme 1							118.0	115.0	116.0					3																	81586104		1860	4100	5960	SO:0001583	missense	2632	Glycogen_Storage_Disease_type_IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81586104C>T		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1761G>A	3.37:g.81586104C>T	ENSP00000410833:p.Met587Ile					GBE1_uc011bgm.1_Missense_Mutation_p.M546I	p.M587I	NM_000158	NP_000149	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	14	2044	-		Lung NSC(201;0.0117)	587					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.1761G>A	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712658	0.68730	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.86956	-2.19;-2.19	5.3	5.3	0.74995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	H	0.94385	3.53	0.58432	D	0.999998	P;P	0.45176	0.852;0.59	B;B	0.43889	0.435;0.201	D	0.94222	0.7468	10	0.66056	D	0.02	-26.1325	19.3052	0.94158	0.0:1.0:0.0:0.0	.	546;587	E9PGM4;Q04446	.;GLGB_HUMAN	I	587;638;546;350	ENSP00000410833:M587I;ENSP00000419638:M546I	ENSP00000264326:M638I	M	-	3	0	GBE1	81668794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.639000	0.89480	0.650000	0.86243	ATG		0.413	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2				5	88	0	0	0	0.001168	0	5	88		
OR5H2	79310	broad.mit.edu	37	3	98002337	98002337	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98002337A>G	ENST00000355273.2	+	1	606	c.606A>G	c.(604-606)ctA>ctG	p.L202L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTAATTTTCTAATGGTTTTTA	0.308																																						uc003dsj.1		NaN																	0				ovary(3)	3						c.(604-606)CTA>CTG		olfactory receptor, family 5, subfamily H,							78.0	81.0	80.0					3																	98002337		2203	4299	6502	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002337A>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.606A>G	3.37:g.98002337A>G							p.L202L	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	606	+			202			Helical; Name=5; (Potential).		Q6IF87	Silent	SNP	ENST00000355273.2	37	c.606A>G	CCDS33801.1																																																																																				0.308	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2				13	42	0	0	0	0.003163	0	13	42		
OR5K2	402135	broad.mit.edu	37	3	98217064	98217064	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98217064T>C	ENST00000427338.1	+	1	617	c.540T>C	c.(538-540)gaT>gaC	p.D180D	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTACTGTGATACTCTTCCCT	0.403																																						uc011bgx.1		NaN																	0				ovary(2)	2						c.(538-540)GAT>GAC		olfactory receptor, family 5, subfamily K,							266.0	263.0	264.0					3																	98217064		2203	4300	6503	SO:0001819	synonymous_variant	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98217064T>C	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.540T>C	3.37:g.98217064T>C							p.D180D	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	540	+			180			Extracellular (Potential).		B2RN70|Q6IF47	Silent	SNP	ENST00000427338.1	37	c.540T>C	CCDS33804.1																																																																																				0.403	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2				13	272	0	0	0	0.004007	0	13	272		
CLDND1	56650	broad.mit.edu	37	3	98235645	98235645	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98235645T>C	ENST00000503004.1	-	5	1499	c.620A>G	c.(619-621)aAt>aGt	p.N207S	CLDND1_ENST00000510545.1_Missense_Mutation_p.N207S|CLDND1_ENST00000437922.1_Missense_Mutation_p.N230S|CLDND1_ENST00000394181.2_Missense_Mutation_p.N207S|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.N207S|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.N207S|CLDND1_ENST00000394185.2_Missense_Mutation_p.N207S|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000341181.6_Missense_Mutation_p.N207S|CLDND1_ENST00000511081.1_Missense_Mutation_p.N112S			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	207						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ACCGGATACATTGTCAGGGAG	0.478																																						uc003dsp.2		NaN																	0				ovary(1)	1						c.(619-621)AAT>AGT		claudin domain containing 1 protein isoform a							147.0	123.0	131.0					3																	98235645		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98235645T>C	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.620A>G	3.37:g.98235645T>C	ENSP00000421226:p.Asn207Ser					CLDND1_uc003dso.2_Intron|CLDND1_uc003dsq.2_Missense_Mutation_p.N207S|CLDND1_uc003dss.2_Missense_Mutation_p.N207S|CLDND1_uc003dsr.2_Missense_Mutation_p.N112S|CLDND1_uc003dst.2_Missense_Mutation_p.N230S|CLDND1_uc003dsu.2_Missense_Mutation_p.N207S|CLDND1_uc003dsv.2_Missense_Mutation_p.N207S	p.N207S	NM_019895	NP_063948	Q9NY35	CLDN1_HUMAN			5	1500	-			207					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.620A>G	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.510037	0.00153	.	.	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000513873;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902;ENST00000510541;ENST00000514537	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;1.55	5.93	3.54	0.40534	.	0.905771	0.09831	N	0.750183	T	0.57330	0.2046	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23128	0.007;0.08;0.007	B;B;B	0.22386	0.01;0.039;0.01	T	0.44298	-0.9337	10	0.38643	T	0.18	-6.0994	9.5821	0.39495	0.0:0.2144:0.0:0.7856	.	207;112;207	D6RCR8;F2Z2D9;Q9NY35	.;.;CLDN1_HUMAN	S	207;230;207;207;207;207;63;207;112;207;185;207;207;92;207;92;207	ENSP00000340247:N207S;ENSP00000388457:N230S;ENSP00000377734:N207S;ENSP00000421226:N207S;ENSP00000377739:N207S;ENSP00000377735:N207S;ENSP00000423590:N207S;ENSP00000424669:N112S;ENSP00000426869:N207S;ENSP00000423732:N185S;ENSP00000425539:N207S;ENSP00000420913:N207S;ENSP00000427119:N92S;ENSP00000421413:N207S;ENSP00000424484:N92S;ENSP00000423151:N207S	ENSP00000340247:N207S	N	-	2	0	CLDND1	99718335	0.000000	0.05858	0.557000	0.28306	0.050000	0.14768	0.295000	0.19065	0.145000	0.18977	-2.260000	0.00280	AAT		0.478	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1		NM_019895		14	69	0	0	0	0.00499	0	14	69		
TRMT10C	54931	broad.mit.edu	37	3	101283942	101283942	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:101283942G>C	ENST00000309922.6	+	2	471	c.317G>C	c.(316-318)aGa>aCa	p.R106T		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	106					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TTGCTTGGCAGAGAAGTACCA	0.373																																						uc003duz.2		NaN																	0				ovary(1)	1						c.(316-318)AGA>ACA		RNA (guanine-9-) methyltransferase domain							89.0	82.0	84.0					3																	101283942		1899	4130	6029	SO:0001583	missense	54931				tRNA processing	mitochondrion	methyltransferase activity|protein binding	g.chr3:101283942G>C	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.317G>C	3.37:g.101283942G>C	ENSP00000312356:p.Arg106Thr						p.R106T	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN			2	465	+			106					Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.317G>C	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975376	0.34848	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.44881	0.91;0.91	5.87	-6.96	0.01622	.	0.662651	0.16090	N	0.230115	T	0.31167	0.0788	L	0.42245	1.32	0.09310	N	0.999999	B	0.27559	0.181	B	0.25759	0.063	T	0.04440	-1.0951	10	0.62326	D	0.03	-4.8485	15.665	0.77221	0.4941:0.0:0.5059:0.0	.	106	Q7L0Y3	MRRP1_HUMAN	T	106	ENSP00000312356:R106T;ENSP00000419389:R106T	ENSP00000312356:R106T	R	+	2	0	RG9MTD1	102766632	0.000000	0.05858	0.160000	0.22671	0.947000	0.59692	-0.938000	0.03938	-1.567000	0.01671	-1.021000	0.02439	AGA		0.373	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2		NM_017819		9	116	0	0	0	0.001368	0	9	116		
KIAA1524	57650	broad.mit.edu	37	3	108273331	108273331	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:108273331T>C	ENST00000295746.8	-	18	2292	c.2216A>G	c.(2215-2217)gAa>gGa	p.E739G	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E580G	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	739					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCAGTACTTTCATTTCTGAA	0.323																																						uc003dxb.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2215-2217)GAA>GGA		p90 autoantigen							48.0	45.0	46.0					3																	108273331		2197	4289	6486	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108273331T>C	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2216A>G	3.37:g.108273331T>C	ENSP00000295746:p.Glu739Gly						p.E739G	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			18	2485	-			739			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2216A>G	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.651539	0.67472	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.04603	3.59;3.59	5.15	5.15	0.70609	.	0.092938	0.85682	D	0.000000	T	0.11324	0.0276	L	0.29908	0.895	0.42263	D	0.992028	D	0.76494	0.999	D	0.70227	0.968	T	0.05037	-1.0910	10	0.59425	D	0.04	-15.6966	11.2515	0.49028	0.0:0.0742:0.0:0.9258	.	739	Q8TCG1	CIP2A_HUMAN	G	580;739	ENSP00000419487:E580G;ENSP00000295746:E739G	ENSP00000295746:E739G	E	-	2	0	KIAA1524	109756021	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	3.463000	0.53050	2.064000	0.61679	0.528000	0.53228	GAA		0.323	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2		NM_020890		2	8	0	0	0	0.004672	0	2	8		
SLC35A5	55032	broad.mit.edu	37	3	112299549	112299549	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:112299549C>T	ENST00000492406.1	+	6	868	c.585C>T	c.(583-585)ttC>ttT	p.F195F	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	195					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GCCTTCTTTTCAGAAGTGAGT	0.463																																						uc003dze.2		NaN																	0				ovary(1)	1						c.(583-585)TTC>TTT		solute carrier family 35, member A5							114.0	113.0	114.0					3																	112299549		2203	4300	6503	SO:0001819	synonymous_variant	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112299549C>T	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.585C>T	3.37:g.112299549C>T							p.F195F	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN			6	830	+			195					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Silent	SNP	ENST00000492406.1	37	c.585C>T	CCDS2967.1																																																																																				0.463	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1		NM_017945		10	70	0	0	0	0.000978	0	10	70		
ZXDC	79364	broad.mit.edu	37	3	126157291	126157291	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:126157291G>A	ENST00000389709.3	-	10	2557	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	835	Interaction with CIITA.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GCCTCCAGATGAGGGGAGCAC	0.627																																						uc003eiv.2		NaN																	0				ovary(1)	1						c.(2503-2505)TCA>TTA		ZXD family zinc finger C isoform 1							29.0	31.0	30.0					3																	126157291		2024	4162	6186	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126157291G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2504C>T	3.37:g.126157291G>A	ENSP00000374359:p.Ser835Leu					ZXDC_uc010hsh.2_RNA	p.S835L	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	10	2558	-			835			Interaction with CIITA.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.2504C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396290	0.25205	.	.	ENSG00000070476	ENST00000389709	T	0.09538	2.97	4.52	3.63	0.41609	.	0.554792	0.19168	N	0.121014	T	0.07143	0.0181	N	0.14661	0.345	0.27174	N	0.960831	B	0.19331	0.035	B	0.19946	0.027	T	0.27365	-1.0076	10	0.33141	T	0.24	-3.4901	11.8357	0.52323	0.0:0.0:0.8232:0.1768	.	835	Q2QGD7	ZXDC_HUMAN	L	835	ENSP00000374359:S835L	ENSP00000374359:S835L	S	-	2	0	ZXDC	127639981	0.106000	0.21978	0.005000	0.12908	0.020000	0.10135	2.756000	0.47549	0.996000	0.38943	0.491000	0.48974	TCA		0.627	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2		NM_025112		4	33	0	0	0	0.000602	0	4	33		
NPHP3	27031	broad.mit.edu	37	3	132418250	132418250	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:132418250C>T	ENST00000337331.5	-	13	2018	c.1932G>A	c.(1930-1932)gtG>gtA	p.V644V	NPHP3_ENST00000326682.8_Silent_p.V644V	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	644					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTTACATTCACTGGCAGTG	0.323																																						uc003epe.1		NaN																	0				ovary(1)	1						c.(1930-1932)GTG>GTA		nephrocystin 3							130.0	114.0	119.0					3																	132418250		2203	4300	6503	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132418250C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1932G>A	3.37:g.132418250C>T						NPHP3_uc003epd.1_5'UTR	p.V644V	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			13	2009	-			644					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.1932G>A	CCDS3078.1																																																																																				0.323	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2		NM_153240		6	58	0	0	0	0.00308	0	6	58		
SLCO2A1	6578	broad.mit.edu	37	3	133661560	133661560	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:133661560C>T	ENST00000310926.4	-	11	1787	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G429E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	505					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AGGGCACGATCCTGTCTTTGC	0.532																																						uc003eqa.3		NaN																	0				central_nervous_system(1)	1						c.(1513-1515)GGA>GAA		solute carrier organic anion transporter family,							129.0	124.0	126.0					3																	133661560		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133661560C>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1514G>A	3.37:g.133661560C>T	ENSP00000311291:p.Gly505Glu					SLCO2A1_uc003eqb.3_Missense_Mutation_p.G429E|SLCO2A1_uc011blv.1_Missense_Mutation_p.G324E	p.G505E	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			11	1788	-			505			Extracellular (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1514G>A	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402487	0.62288	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.81078	-1.45;-1.45	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048392	0.85682	D	0.000000	D	0.92028	0.7474	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.991	D	0.93146	0.6545	10	0.87932	D	0	.	19.5387	0.95266	0.0:1.0:0.0:0.0	.	324;429;505	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	E	505;429	ENSP00000311291:G505E;ENSP00000418893:G429E	ENSP00000311291:G505E	G	-	2	0	SLCO2A1	135144250	1.000000	0.71417	0.124000	0.21820	0.058000	0.15608	5.477000	0.66799	2.634000	0.89283	0.561000	0.74099	GGA		0.532	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1		NM_005630		22	122	0	0	0	0.008361	0	22	122		
TIPARP	25976	broad.mit.edu	37	3	156395594	156395594	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:156395594G>A	ENST00000461166.1	+	2	696	c.108G>A	c.(106-108)ttG>ttA	p.L36L	TIPARP_ENST00000486483.1_Silent_p.L36L|TIPARP_ENST00000542783.1_Silent_p.L36L|TIPARP_ENST00000295924.7_Silent_p.L36L	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	36					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L36F(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCACTCCATTGAAGACTTGTT	0.448																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)|breast(1)	2						c.(106-108)TTG>TTA		TCDD-inducible poly(ADP-ribose) polymerase							90.0	92.0	91.0					3																	156395594		2203	4300	6503	SO:0001819	synonymous_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156395594G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.108G>A	3.37:g.156395594G>A						LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.L36L	p.L36L	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	356	+			36					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	c.108G>A	CCDS3177.1																																																																																				0.448	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1		NM_015508		8	76	0	0	0	0.006214	0	8	76		
PIK3CA	5290	broad.mit.edu	37	3	178927486	178927486	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:178927486G>A	ENST00000263967.3	+	7	1406	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	417	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGGTGCTAAAGAGGTAAAGTA	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1249-1251)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							139.0	127.0	131.0					3																	178927486		1832	4098	5930	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178927486G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1249G>A	3.37:g.178927486G>A	ENSP00000263967:p.Glu417Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E417K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		7	1406	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		417			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1249G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508690	0.27036	.	.	ENSG00000121879	ENST00000263967	T	0.75367	-0.93	4.94	4.94	0.65067	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	N	0.25485	0.75	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.58115	-0.7693	10	0.02654	T	1	-21.2014	18.164	0.89719	0.0:0.0:1.0:0.0	.	417	P42336	PK3CA_HUMAN	K	417	ENSP00000263967:E417K	ENSP00000263967:E417K	E	+	1	0	PIK3CA	180410180	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.416000	0.97383	2.308000	0.77769	0.467000	0.42956	GAG		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				14	91	0	0	0	0.003163	0	14	91		
MFN1	55669	broad.mit.edu	37	3	179080190	179080190	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:179080190G>A	ENST00000471841.1	+	5	582	c.456G>A	c.(454-456)ttG>ttA	p.L152L	MFN1_ENST00000280653.7_Silent_p.L152L|MFN1_ENST00000263969.5_Silent_p.L152L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	152	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACAAAGATTTGAAAGCTGGCT	0.383																																						uc003fjs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(454-456)TTG>TTA		mitofusin 1							111.0	106.0	108.0					3																	179080190		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179080190G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.456G>A	3.37:g.179080190G>A						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.L180L|MFN1_uc010hxc.2_Silent_p.L5L	p.L152L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		5	582	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		152			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.456G>A	CCDS3228.1																																																																																				0.383	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2		NM_017927		7	94	0	0	0	0.006214	0	7	94		
MCCC1	56922	broad.mit.edu	37	3	182769981	182769981	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:182769981G>A	ENST00000265594.4	-	9	1067	c.921C>T	c.(919-921)gtC>gtT	p.V307V	MCCC1_ENST00000539926.1_Silent_p.V172V|MCCC1_ENST00000492597.1_Silent_p.V198V	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	307	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TAGCAGCTCTGACTGCAGCTT	0.348																																						uc003fle.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(919-921)GTC>GTT		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						94.0	91.0	92.0					3																	182769981		2203	4300	6503	SO:0001819	synonymous_variant	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182769981G>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.921C>T	3.37:g.182769981G>A						MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.V190V|MCCC1_uc003flg.2_Silent_p.V198V|MCCC1_uc011bqp.1_Silent_p.V260V|MCCC1_uc011bqq.1_Silent_p.V198V	p.V307V	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		9	1058	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		307			Biotin carboxylation.|ATP-grasp.		Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	c.921C>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	9.415	1.081628	0.20309	.	.	ENSG00000078070	ENST00000541636	.	.	.	5.78	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.3408	0.21322	0.0691:0.2524:0.5046:0.174	.	.	.	.	X	198	.	ENSP00000439337:Q198X	Q	-	1	0	MCCC1	184252675	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	0.357000	0.20199	0.753000	0.32945	-0.251000	0.11542	CAG		0.348	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166		7	81	0	0	0	0.008291	0	7	81		
TNK2	10188	broad.mit.edu	37	3	195608974	195608974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:195608974G>A	ENST00000333602.6	-	6	1452	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	TNK2_ENST00000316664.3_Nonsense_Mutation_p.Q279*|TNK2_ENST00000468819.1_Intron|TNK2_ENST00000428187.1_Nonsense_Mutation_p.Q311*|TNK2_ENST00000392400.1_Nonsense_Mutation_p.Q279*|TNK2_ENST00000381916.2_Nonsense_Mutation_p.Q342*	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGTCATTCTGAGGTAGTGCT	0.602																																						uc003fvu.1		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(835-837)CAG>TAG		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						129.0	95.0	106.0					3																	195608974		2203	4300	6503	SO:0001587	stop_gained	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195608974G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.835C>T	3.37:g.195608974G>A	ENSP00000329425:p.Gln279*					TNK2_uc003fvs.1_Nonsense_Mutation_p.Q311*|TNK2_uc003fvt.1_Nonsense_Mutation_p.Q342*|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Nonsense_Mutation_p.Q109*|TNK2_uc010hzx.1_Intron	p.Q279*	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	6	1378	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	279			Protein kinase.		Q6ZMQ0|Q8N6U7|Q96H59	Nonsense_Mutation	SNP	ENST00000333602.6	37	c.835C>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	39	7.870430	0.98534	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	.	.	.	4.88	4.88	0.63580	.	0.109273	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	10.8977	0.47031	0.0:0.0:0.7181:0.2819	.	.	.	.	X	279;342;311;279;279	.	ENSP00000323216:Q279X	Q	-	1	0	TNK2	197093371	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.315000	0.72853	2.701000	0.92244	0.655000	0.94253	CAG		0.602	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3		NM_005781		6	77	0	0	0	0.00308	0	6	77		
GAK	2580	broad.mit.edu	37	4	844870	844870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:844870G>A	ENST00000314167.4	-	26	3621	c.3511C>T	c.(3511-3513)Caa>Taa	p.Q1171*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1092*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1171					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTTGGCTTTTGAGCTAGAAAA	0.468																																						uc003gbm.3		NaN																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(3511-3513)CAA>TAA		cyclin G associated kinase							104.0	101.0	102.0					4																	844870		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:844870G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3511C>T	4.37:g.844870G>A	ENSP00000314499:p.Gln1171*					GAK_uc003gbn.3_Nonsense_Mutation_p.Q1092*|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Nonsense_Mutation_p.Q396*|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Nonsense_Mutation_p.Q1024*	p.Q1171*	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	26	3710	-			1171					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3511C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	37	6.011060	0.97200	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163	.	.	.	5.41	5.41	0.78517	.	0.369220	0.29198	N	0.012844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.3902	16.6821	0.85295	0.0:0.0:1.0:0.0	.	.	.	.	X	447;1171;1092	.	ENSP00000314499:Q1171X	Q	-	1	0	GAK	834870	0.940000	0.31905	0.665000	0.29768	0.915000	0.54546	2.748000	0.47483	2.527000	0.85204	0.655000	0.94253	CAA		0.468	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		5	64	0	0	0	0.000602	0	5	64		
HTT	3064	broad.mit.edu	37	4	3214330	3214330	+	Missense_Mutation	SNP	G	G	A	rs375059996		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:3214330G>A	ENST00000355072.5	+	49	6813	c.6668G>A	c.(6667-6669)cGg>cAg	p.R2223Q		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2223					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTCTGGCCCGGGCCCTGGCA	0.552																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(6673-6675)CGG>CAG		huntingtin		G	GLN/ARG	1,3931		0,1,1965	112.0	116.0	115.0		6668	4.8	0.9	4		115	0,8306		0,0,4153	no	missense	HTT	NM_002111.6	43	0,1,6118	AA,AG,GG		0.0,0.0254,0.0082	benign	2223/3143	3214330	1,12237	1966	4153	6119	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3214330G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6668G>A	4.37:g.3214330G>A	ENSP00000347184:p.Arg2223Gln						p.R2225Q	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	50	6819	+		all_epithelial(65;0.18)	2223					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.6674G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164108	0.38217	2.54E-4	0.0	ENSG00000197386	ENST00000355072	T	0.05139	3.49	5.66	4.82	0.62117	.	0.204121	0.42821	N	0.000656	T	0.03739	0.0106	N	0.08118	0	0.31329	N	0.685055	B	0.20887	0.049	B	0.15052	0.012	T	0.17561	-1.0365	10	0.27785	T	0.31	.	11.7249	0.51704	0.1421:0.0:0.8579:0.0	.	2223	P42858	HD_HUMAN	Q	2223	ENSP00000347184:R2223Q	ENSP00000347184:R2223Q	R	+	2	0	HTT	3184128	1.000000	0.71417	0.856000	0.33681	0.575000	0.36095	5.724000	0.68500	1.387000	0.46486	0.609000	0.83330	CGG		0.552	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		17	235	0	0	0	0.008871	0	17	235		
C4orf50	389197	broad.mit.edu	37	4	5961300	5961300	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:5961300G>A	ENST00000324058.5	-	7	722	c.633C>T	c.(631-633)gtC>gtT	p.V211V	C4orf50_ENST00000531445.1_Silent_p.V685V			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	211										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GTTCCACAGTGACCGCTGCCA	0.577																																						uc003git.1		NaN																	0				pancreas(2)|breast(1)	3						c.(631-633)GTC>GTT		hypothetical protein LOC389197							74.0	73.0	73.0					4																	5961300		2203	4300	6503	SO:0001819	synonymous_variant	389197							g.chr4:5961300G>A	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.633C>T	4.37:g.5961300G>A							p.V211V	NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN			7	723	-			211						Silent	SNP	ENST00000324058.5	37	c.633C>T																																																																																					0.577	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_207405		5	44	0	0	0	0.001984	0	5	44		
KIAA0232	9778	broad.mit.edu	37	4	6843853	6843853	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:6843853G>A	ENST00000307659.5	+	4	746	c.291G>A	c.(289-291)aaG>aaA	p.K97K	KIAA0232_ENST00000425103.1_Silent_p.K97K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	97							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAAAGAGTAAGAAAAAATGTT	0.388																																						uc003gjr.3		NaN																	0				ovary(2)	2						c.(289-291)AAG>AAA		hypothetical protein LOC9778							120.0	123.0	122.0					4																	6843853		1827	4084	5911	SO:0001819	synonymous_variant	9778						ATP binding	g.chr4:6843853G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.291G>A	4.37:g.6843853G>A						KIAA0232_uc003gjq.3_Silent_p.K97K	p.K97K	NM_014743	NP_055558	Q92628	K0232_HUMAN			4	754	+			97					A7E2D2	Silent	SNP	ENST00000307659.5	37	c.291G>A	CCDS43209.1																																																																																				0.388	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2		NM_014743		10	104	0	0	0	0.000978	0	10	104		
BOD1L1	259282	broad.mit.edu	37	4	13605601	13605601	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:13605601C>G	ENST00000040738.5	-	10	3058	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	975	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GAAGCAGTCTCTAATACAGGT	0.378																																						uc003gmz.1		NaN																	0				ovary(5)|breast(1)	6						c.(2923-2925)GAG>CAG		biorientation of chromosomes in cell division							192.0	200.0	197.0					4																	13605601		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13605601C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2923G>C	4.37:g.13605601C>G	ENSP00000040738:p.Glu975Gln					BOD1L_uc010idr.1_Missense_Mutation_p.E312Q	p.E975Q	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	3040	-			975			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2923G>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303895	0.40795	.	.	ENSG00000038219	ENST00000040738	T	0.10960	2.82	5.4	5.4	0.78164	.	0.132704	0.34750	N	0.003712	T	0.21347	0.0514	L	0.50333	1.59	0.25920	N	0.98313	D	0.58268	0.982	P	0.52793	0.709	T	0.01839	-1.1263	10	0.54805	T	0.06	-7.315	17.3337	0.87274	0.0:1.0:0.0:0.0	.	975	Q8NFC6	BOD1L_HUMAN	Q	975	ENSP00000040738:E975Q	ENSP00000040738:E975Q	E	-	1	0	BOD1L	13214699	0.998000	0.40836	0.132000	0.22025	0.092000	0.18411	5.473000	0.66774	2.534000	0.85438	0.555000	0.69702	GAG		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		12	177	0	0	0	0.00499	0	12	177		
BOD1L1	259282	broad.mit.edu	37	4	13605643	13605643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:13605643C>T	ENST00000040738.5	-	10	3016	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	961	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GGTTTGTCTTCAACTTTAGAC	0.398																																						uc003gmz.1		NaN																	0				ovary(5)|breast(1)	6						c.(2881-2883)GAA>AAA		biorientation of chromosomes in cell division							180.0	182.0	181.0					4																	13605643		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13605643C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2881G>A	4.37:g.13605643C>T	ENSP00000040738:p.Glu961Lys					BOD1L_uc010idr.1_Missense_Mutation_p.E298K	p.E961K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2998	-			961			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2881G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112895	0.77210	.	.	ENSG00000038219	ENST00000040738	T	0.11712	2.75	5.4	5.4	0.78164	.	0.000000	0.49916	D	0.000132	T	0.30916	0.0780	M	0.61703	1.905	0.34938	D	0.750078	D	0.76494	0.999	D	0.65010	0.931	T	0.21518	-1.0243	10	0.52906	T	0.07	-8.3753	19.1532	0.93499	0.0:1.0:0.0:0.0	.	961	Q8NFC6	BOD1L_HUMAN	K	961	ENSP00000040738:E961K	ENSP00000040738:E961K	E	-	1	0	BOD1L	13214741	0.996000	0.38824	0.973000	0.42090	0.954000	0.61252	3.020000	0.49643	2.534000	0.85438	0.555000	0.69702	GAA		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894		9	143	0	0	0	0.006214	0	9	143		
UGDH	7358	broad.mit.edu	37	4	39512009	39512009	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:39512009G>C	ENST00000316423.6	-	5	969	c.627C>G	c.(625-627)ctC>ctG	p.L209L	UGDH_ENST00000515398.1_5'Flank|UGDH_ENST00000506179.1_Silent_p.L209L|UGDH_ENST00000507089.1_Silent_p.L112L|UGDH_ENST00000501493.2_Silent_p.L142L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	209					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TATTAGTGGTGAGGATCTTTT	0.423																																						uc003guk.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(625-627)CTC>CTG		UDP-glucose dehydrogenase	NADH(DB00157)						112.0	114.0	114.0					4																	39512009		2203	4300	6503	SO:0001819	synonymous_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39512009G>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.627C>G	4.37:g.39512009G>C						UGDH_uc011byp.1_Silent_p.L112L|UGDH_uc003gul.1_Silent_p.L142L	p.L209L	NM_003359	NP_003350	O60701	UGDH_HUMAN			5	943	-			209					B3KUU2|B4DN25|O60589	Silent	SNP	ENST00000316423.6	37	c.627C>G	CCDS3455.1																																																																																				0.423	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3		NM_003359		7	119	0	0	0	0.008291	0	7	119		
DCAF4L1	285429	broad.mit.edu	37	4	41984112	41984112	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:41984112C>G	ENST00000333141.5	+	1	400	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	101										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AGTACGGCATCATCAGCCTGC	0.557																																						uc003gwk.2		NaN																	0				skin(1)	1						c.(301-303)ATC>ATG		WD repeat domain 21B							98.0	88.0	91.0					4																	41984112		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984112C>G	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.303C>G	4.37:g.41984112C>G	ENSP00000327796:p.Ile101Met						p.I101M	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	400	+			101					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.303C>G	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310568	0.23821	.	.	ENSG00000182308	ENST00000333141	T	0.53640	0.61	0.688	-0.776	0.10984	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.093328	0.85682	D	0.000000	T	0.54367	0.1854	M	0.68952	2.095	0.33092	D	0.538045	D	0.58970	0.984	P	0.62435	0.902	T	0.59606	-0.7423	9	0.66056	D	0.02	.	.	.	.	.	101	Q3SXM0	DC4L1_HUMAN	M	101	ENSP00000327796:I101M	ENSP00000327796:I101M	I	+	3	3	DCAF4L1	41678869	1.000000	0.71417	0.454000	0.27019	0.476000	0.33039	0.402000	0.20965	-1.558000	0.01690	-1.786000	0.00637	ATC		0.557	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1		NM_001029955		6	62	0	0	0	0.001984	0	6	62		
GABRA2	2555	broad.mit.edu	37	4	46334652	46334652	+	Missense_Mutation	SNP	G	G	T	rs76519302		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:46334652G>T	ENST00000510861.1	-	4	408	c.235C>A	c.(235-237)Cct>Act	p.P79T	GABRA2_ENST00000514090.1_Missense_Mutation_p.P79T|GABRA2_ENST00000356504.1_Missense_Mutation_p.P79T|GABRA2_ENST00000515082.1_Missense_Mutation_p.P79T|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000381620.4_Missense_Mutation_p.P79T|GABRA2_ENST00000507069.1_Missense_Mutation_p.P79T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	79					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)	TCTGAGACAGGGCCAAAACTG	0.328																																						uc003gxc.3		NaN																	0				ovary(2)|skin(2)	4						c.(235-237)CCT>ACT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						87.0	91.0	89.0					4																	46334652		2203	4300	6503	SO:0001583	missense	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.chr4:46334652G>T		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.235C>A	4.37:g.46334652G>T	ENSP00000421828:p.Pro79Thr					GABRA2_uc010igc.2_Missense_Mutation_p.P79T|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Missense_Mutation_p.P79T	p.P79T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			3	908	-			79			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.235C>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771543	0.69992	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	M	0.72353	2.195	0.80722	D	1	B;D	0.76494	0.378;0.999	B;D	0.74023	0.169;0.982	D	0.87853	0.2659	10	0.72032	D	0.01	.	15.8633	0.79043	0.0:0.0:1.0:0.0	.	79;79	G5E9Z6;P47869	.;GBRA2_HUMAN	T	79	ENSP00000421828:P79T;ENSP00000421300:P79T;ENSP00000371033:P79T;ENSP00000348897:P79T;ENSP00000427603:P79T;ENSP00000423840:P79T;ENSP00000424362:P79T;ENSP00000424093:P79T	ENSP00000348897:P79T	P	-	1	0	GABRA2	46029409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.846000	0.75399	2.678000	0.91216	0.650000	0.86243	CCT		0.328	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2				7	123	1	0	1.33987e-11	0.008291	1.47268e-11	7	123		
TEC	7006	broad.mit.edu	37	4	48169865	48169865	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:48169865C>T	ENST00000381501.3	-	7	758	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	201	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGCCTCTCTCTAATCTGAGA	0.403																																						uc003gxz.2		NaN																	0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(601-603)GAG>AAG		tec protein tyrosine kinase							205.0	193.0	197.0					4																	48169865		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48169865C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.601G>A	4.37:g.48169865C>T	ENSP00000370912:p.Glu201Lys						p.E201K	NM_003215	NP_003206	P42680	TEC_HUMAN			7	692	-			201			SH3.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.601G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996970	0.35226	.	.	ENSG00000135605	ENST00000381501	T	0.40225	1.04	5.71	5.71	0.89125	Src homology-3 domain (5);	0.276091	0.36234	N	0.002701	T	0.14614	0.0353	N	0.00462	-1.47	0.40607	D	0.981634	B	0.06786	0.001	B	0.12837	0.008	T	0.39143	-0.9628	10	0.05525	T	0.97	.	19.8464	0.96708	0.0:1.0:0.0:0.0	.	201	P42680	TEC_HUMAN	K	201	ENSP00000370912:E201K	ENSP00000370912:E201K	E	-	1	0	TEC	47864622	1.000000	0.71417	0.998000	0.56505	0.667000	0.39255	4.641000	0.61375	2.710000	0.92621	0.491000	0.48974	GAG		0.403	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3				10	141	0	0	0	0.008291	0	10	141		
KDR	3791	broad.mit.edu	37	4	55958791	55958791	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:55958791G>A	ENST00000263923.4	-	22	3357	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1021	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTTCGCGATGCCAAGAA	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3061-3063)TCG>TTG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						115.0	104.0	108.0					4																	55958791		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55958791G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3062C>T	4.37:g.55958791G>A	ENSP00000263923:p.Ser1021Leu	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S1021L	p.S1021L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		22	3364	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1021			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3062C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518257	0.85495	.	.	ENSG00000128052	ENST00000263923	D	0.90732	-2.72	5.95	5.95	0.96441	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	D	0.95490	0.8535	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95200	0.8316	10	0.87932	D	0	.	20.3802	0.98930	0.0:0.0:1.0:0.0	.	1021	P35968	VGFR2_HUMAN	L	1021	ENSP00000263923:S1021L	ENSP00000263923:S1021L	S	-	2	0	KDR	55653548	1.000000	0.71417	0.989000	0.46669	0.229000	0.25112	9.750000	0.98875	2.822000	0.97130	0.563000	0.77884	TCG		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				7	59	0	0	0	0.00308	0	7	59		
CEP135	9662	broad.mit.edu	37	4	56819371	56819371	+	Missense_Mutation	SNP	G	G	C	rs200729714	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:56819371G>C	ENST00000257287.4	+	3	358	c.234G>C	c.(232-234)ttG>ttC	p.L78F	CEP135_ENST00000422247.2_Missense_Mutation_p.L78F	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	78					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATGCAAGATTGAGTAGAGAAA	0.308																																						uc003hbi.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(232-234)TTG>TTC		centrosome protein 4							64.0	72.0	69.0					4																	56819371		2203	4299	6502	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56819371G>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.234G>C	4.37:g.56819371G>C	ENSP00000257287:p.Leu78Phe					CEP135_uc003hbh.1_Missense_Mutation_p.L78F|CEP135_uc010igz.1_5'Flank	p.L78F	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			3	468	+	Glioma(25;0.08)|all_neural(26;0.101)		78			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.234G>C	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211630	0.58452	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	T	0.69806	-0.43	5.28	3.44	0.39384	.	0.183563	0.36482	N	0.002580	T	0.79179	0.4402	M	0.86953	2.85	0.45464	D	0.998435	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.979	T	0.78540	-0.2165	10	0.87932	D	0	.	3.1733	0.06560	0.0842:0.2263:0.4338:0.2557	.	78;78	Q66GS9;Q66GS9-2	CP135_HUMAN;.	F	78	ENSP00000257287:L78F	ENSP00000257287:L78F	L	+	3	2	CEP135	56514128	0.987000	0.35691	0.993000	0.49108	0.974000	0.67602	0.210000	0.17455	1.203000	0.43233	0.650000	0.86243	TTG		0.308	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2		NM_025009		5	67	0	0	0	0.000602	0	5	67		
AMBN	258	broad.mit.edu	37	4	71468378	71468378	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:71468378C>T	ENST00000322937.6	+	7	672	c.569C>T	c.(568-570)tCa>tTa	p.S190L	AMBN_ENST00000449493.2_Splice_Site_p.S175L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	190					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGGTCCATCAGTAAGTACA	0.259																																						uc003hfl.2		NaN																	0				ovary(3)|skin(1)	4						c.(568-570)TCA>TTA		ameloblastin precursor							56.0	59.0	58.0					4																	71468378		2193	4291	6484	SO:0001630	splice_region_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468378C>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.570+1C>T	4.37:g.71468378C>T							p.S190L	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		7	644	+			190			1.		Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.569C>T	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	5.719	0.317108	0.10845	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.34667	1.35;1.35	3.29	2.43	0.29744	.	8.865880	0.00706	U	0.000813	T	0.38983	0.1061	L	0.51422	1.61	0.09310	N	1	B	0.23442	0.085	B	0.28638	0.092	T	0.33189	-0.9878	10	0.62326	D	0.03	.	7.7695	0.28999	0.2502:0.7498:0.0:0.0	.	190	Q9NP70	AMBN_HUMAN	L	190;189;175	ENSP00000313809:S190L;ENSP00000391234:S175L	ENSP00000313809:S190L	S	+	2	0	AMBN	71502967	0.002000	0.14202	0.003000	0.11579	0.539000	0.34962	1.068000	0.30629	0.680000	0.31366	0.305000	0.20034	TCA		0.259	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1		NM_016519	Missense_Mutation	5	95	0	0	0	0.004482	0	5	95		
GC	2638	broad.mit.edu	37	4	72634130	72634130	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:72634130C>G	ENST00000273951.8	-	3	492	c.149G>C	c.(148-150)aGa>aCa	p.R50T	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.R69T|GC_ENST00000513476.1_Missense_Mutation_p.R50T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	50	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GGGAAATTTTCTACTGTACAG	0.468																																						uc003hge.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(148-150)AGA>ACA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						59.0	55.0	56.0					4																	72634130		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72634130C>G	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.149G>C	4.37:g.72634130C>G	ENSP00000273951:p.Arg50Thr					GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.R50T|GC_uc010iif.2_Missense_Mutation_p.R69T	p.R50T	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		3	302	-		all_hematologic(202;0.107)	50			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.149G>C	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552726	0.45487	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	6.04	4.3	0.51218	.	0.179507	0.49305	D	0.000145	D	0.83399	0.5246	M	0.67953	2.075	0.44024	D	0.99674	D;D	0.89917	0.999;1.0	D;D	0.79108	0.985;0.992	D	0.84175	0.0436	10	0.72032	D	0.01	.	13.0462	0.58928	0.0:0.8822:0.0:0.1178	.	69;50	D6RAK8;D6RF35	.;.	T	50;69;50;50	ENSP00000273951:R50T;ENSP00000421725:R69T;ENSP00000426683:R50T;ENSP00000426718:R50T	ENSP00000273951:R50T	R	-	2	0	GC	72852994	0.952000	0.32445	0.948000	0.38648	0.003000	0.03518	0.251000	0.18257	2.873000	0.98535	0.563000	0.77884	AGA		0.468	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2				4	59	0	0	0	0.000602	0	4	59		
MEPE	56955	broad.mit.edu	37	4	88766951	88766951	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:88766951G>A	ENST00000424957.3	+	4	1004	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	MEPE_ENST00000361056.3_Missense_Mutation_p.E311K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.E287K|MEPE_ENST00000395102.4_Missense_Mutation_p.E342K|MEPE_ENST00000540395.1_Missense_Mutation_p.E198K|MEPE_ENST00000560249.1_Missense_Mutation_p.E198K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	311					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGAGAGAAGAAAATGGTGG	0.448																																						uc003hqy.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(931-933)GAA>AAA		matrix, extracellular phosphoglycoprotein with							62.0	63.0	63.0					4																	88766951		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766951G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.931G>A	4.37:g.88766951G>A	ENSP00000416984:p.Glu311Lys					MEPE_uc010ikn.2_Missense_Mutation_p.E198K	p.E311K	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	970	+		Hepatocellular(203;0.114)	311					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.931G>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	6.653	0.489023	0.12641	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.49432	0.78;0.79;0.78;0.79;0.78	4.69	-0.0935	0.13649	.	1.227220	0.05739	N	0.601031	T	0.29288	0.0729	N	0.20574	0.59	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16070	-1.0415	10	0.23302	T	0.38	-0.6502	4.6328	0.12509	0.3495:0.1518:0.4987:0.0	.	311	Q9NQ76	MEPE_HUMAN	K	311;342;287;198;311	ENSP00000416984:E311K;ENSP00000378534:E342K;ENSP00000422747:E287K;ENSP00000443491:E198K;ENSP00000354341:E311K	ENSP00000354341:E311K	E	+	1	0	MEPE	88985975	0.001000	0.12720	0.002000	0.10522	0.151000	0.21798	0.277000	0.18734	-0.172000	0.10779	-0.794000	0.03295	GAA		0.448	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1				8	41	0	0	0	0.004482	0	8	41		
INTS12	57117	broad.mit.edu	37	4	106614625	106614625	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:106614625C>T	ENST00000451321.2	-	4	807	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	INTS12_ENST00000394735.1_Missense_Mutation_p.E110K|INTS12_ENST00000340139.5_Missense_Mutation_p.E110K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	110					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAACTCCTTCAGTGATGTCT	0.378																																						uc003hxw.2		NaN																	0					0						c.(328-330)GAA>AAA		integrator complex subunit 12							169.0	174.0	172.0					4																	106614625		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106614625C>T		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.328G>A	4.37:g.106614625C>T	ENSP00000415433:p.Glu110Lys					INTS12_uc010ilr.2_Missense_Mutation_p.E110K	p.E110K	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	5	586	-			110					B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.328G>A	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764142	0.89932	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746;ENST00000420368	T;T;T	0.52526	0.66;0.66;0.66	5.93	5.1	0.69264	.	0.198569	0.52532	D	0.000080	T	0.41971	0.1182	L	0.50333	1.59	0.58432	D	0.999996	B	0.06786	0.001	B	0.10450	0.005	T	0.28073	-1.0055	10	0.14252	T	0.57	-30.3456	14.9807	0.71309	0.0:0.932:0.0:0.068	.	110	Q96CB8	INT12_HUMAN	K	110	ENSP00000378221:E110K;ENSP00000340737:E110K;ENSP00000415433:E110K	ENSP00000340737:E110K	E	-	1	0	INTS12	106834074	1.000000	0.71417	0.903000	0.35520	0.889000	0.51656	6.240000	0.72363	1.524000	0.49035	0.591000	0.81541	GAA		0.378	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1		NM_020395		9	158	0	0	0	0.008291	0	9	158		
HADH	3033	broad.mit.edu	37	4	108911132	108911132	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:108911132C>T	ENST00000309522.3	+	1	193	c.44C>T	c.(43-45)tCg>tTg	p.S15L	HADH_ENST00000505878.1_5'UTR|HADH_ENST00000403312.1_Missense_Mutation_p.S74L|HADH_ENST00000603302.1_Missense_Mutation_p.S15L	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	0					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GTGTCCTCCTCGTCCACCGCC	0.687																																						uc003hyq.2		NaN																	0				ovary(1)	1						c.(43-45)TCG>TTG		L-3-hydroxyacyl-Coenzyme A dehydrogenase	NADH(DB00157)						51.0	38.0	42.0					4																	108911132		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108911132C>T	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.44C>T	4.37:g.108911132C>T	ENSP00000312288:p.Ser15Leu					HADH_uc010ilx.2_Missense_Mutation_p.S15L|HADH_uc010ily.2_5'UTR	p.S15L	NM_005327	NP_005318	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	1	193	+		Hepatocellular(203;0.217)	15					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.44C>T	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345974	0.61073	.	.	ENSG00000138796	ENST00000403312;ENST00000309522	T	0.71579	-0.58	4.34	4.34	0.51931	.	0.102646	0.42821	D	0.000659	T	0.65873	0.2733	L	0.60455	1.87	0.80722	D	1	P;P	0.50156	0.932;0.458	B;B	0.39738	0.308;0.025	T	0.73613	-0.3927	10	0.87932	D	0	-10.7657	13.7202	0.62723	0.0:1.0:0.0:0.0	.	74;15	Q16836-2;Q16836	.;HCDH_HUMAN	L	15	ENSP00000312288:S15L	ENSP00000312288:S15L	S	+	2	0	HADH	109130581	0.972000	0.33761	0.919000	0.36401	0.942000	0.58702	2.420000	0.44679	2.244000	0.73946	0.591000	0.81541	TCG		0.687	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2		NM_005327		3	37	0	0	0	0.004672	0	3	37		
SPATA5	166378	broad.mit.edu	37	4	123977578	123977578	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:123977578G>C	ENST00000274008.4	+	12	2185	c.2116G>C	c.(2116-2118)Gaa>Caa	p.E706Q	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	706					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGGTGAATCTGAAAGAGCAGT	0.378																																						uc003iez.3		NaN																	0					0						c.(2116-2118)GAA>CAA		spermatogenesis associated 5							82.0	85.0	84.0					4																	123977578		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123977578G>C	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2116G>C	4.37:g.123977578G>C	ENSP00000274008:p.Glu706Gln						p.E706Q	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			12	2189	+			706					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.2116G>C	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085117	0.76642	.	.	ENSG00000145375	ENST00000274008	D	0.95588	-3.75	4.63	4.63	0.57726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	M	0.83223	2.63	0.43652	D	0.996068	D	0.89917	1.0	D	0.97110	1.0	D	0.98539	1.0631	10	0.87932	D	0	-13.3945	18.0863	0.89458	0.0:0.0:1.0:0.0	.	706	Q8NB90	SPAT5_HUMAN	Q	706	ENSP00000274008:E706Q	ENSP00000274008:E706Q	E	+	1	0	SPATA5	124197028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.301000	0.78850	2.572000	0.86782	0.655000	0.94253	GAA		0.378	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2		NM_145207		5	55	0	0	0	0.00308	0	5	55		
TRIM2	23321	broad.mit.edu	37	4	154237060	154237060	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:154237060C>T	ENST00000437508.2	+	8	1811	c.1610C>T	c.(1609-1611)aCa>aTa	p.T537I	TRIM2_ENST00000338700.5_Missense_Mutation_p.T564I	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	537					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGCGGCCCACAGGAGTGGCT	0.448																																						uc003ing.2		NaN																	0				central_nervous_system(1)	1						c.(1609-1611)ACA>ATA		tripartite motif-containing 2 isoform 2							63.0	72.0	69.0					4																	154237060		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154237060C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1610C>T	4.37:g.154237060C>T	ENSP00000415812:p.Thr537Ile					TRIM2_uc003inh.2_Missense_Mutation_p.T564I	p.T537I	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	8	1811	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	537			NHL 2.		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1610C>T	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352645	0.61293	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.72505	-0.66;-0.66	5.07	5.07	0.68467	Six-bladed beta-propeller, TolB-like (1);	0.095342	0.64402	D	0.000001	D	0.82323	0.5012	L	0.61036	1.89	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.80897	-0.1177	10	0.37606	T	0.19	-7.4769	18.8059	0.92037	0.0:1.0:0.0:0.0	.	564;537	D3DP09;Q9C040	.;TRIM2_HUMAN	I	537;564	ENSP00000415812:T537I;ENSP00000339659:T564I	ENSP00000339659:T564I	T	+	2	0	TRIM2	154456510	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.776000	0.85560	2.506000	0.84524	0.650000	0.86243	ACA		0.448	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1				7	89	0	0	0	0.006214	0	7	89		
NPY5R	4889	broad.mit.edu	37	4	164271709	164271709	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:164271709C>T	ENST00000515560.1	+	4	1806	c.284C>T	c.(283-285)tCa>tTa	p.S95L	NPY5R_ENST00000506953.1_Missense_Mutation_p.S95L|NPY5R_ENST00000338566.3_Missense_Mutation_p.S95L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	95					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTGTTTTGCTCACCTTTCACA	0.408																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NaN																	0				lung(6)|skin(1)	7						c.(283-285)TCA>TTA		neuropeptide Y receptor Y5							308.0	301.0	304.0					4																	164271709		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271709C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.284C>T	4.37:g.164271709C>T	ENSP00000423917:p.Ser95Leu						p.S95L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	466	+	all_hematologic(180;0.166)	Prostate(90;0.109)	95			Helical; Name=2; (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.284C>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933207	0.73442	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.70399	-0.48;-0.48;-0.48	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000145	T	0.48677	0.1513	N	0.05050	-0.12	0.49483	D	0.999793	B	0.18968	0.032	B	0.18263	0.021	T	0.51576	-0.8688	10	0.02654	T	1	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	95	Q15761	NPY5R_HUMAN	L	95	ENSP00000339377:S95L;ENSP00000423917:S95L;ENSP00000423474:S95L	ENSP00000339377:S95L	S	+	2	0	NPY5R	164491159	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.634000	0.67833	2.533000	0.85409	0.591000	0.81541	TCA		0.408	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1		NM_006174		18	286	0	0	0	0.007413	0	18	286		
TKTL2	84076	broad.mit.edu	37	4	164393349	164393349	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:164393349C>T	ENST00000280605.3	-	1	1698	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	513						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAGTAACTCCAGCTCCAAT	0.458																																						uc003iqp.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1537-1539)GGA>GAA		transketolase-like 2							142.0	141.0	141.0					4																	164393349		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393349C>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1538G>A	4.37:g.164393349C>T	ENSP00000280605:p.Gly513Glu						p.G513E	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1699	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	513					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1538G>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546343	0.65198	.	.	ENSG00000151005	ENST00000280605	D	0.95001	-3.58	4.29	2.54	0.30619	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.062767	0.64402	N	0.000006	D	0.98134	0.9384	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96604	0.9447	10	0.87932	D	0	-10.052	7.9223	0.29854	0.0:0.7436:0.1638:0.0926	.	513	Q9H0I9	TKTL2_HUMAN	E	513	ENSP00000280605:G513E	ENSP00000280605:G513E	G	-	2	0	TKTL2	164612799	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.375000	0.59549	0.749000	0.32854	0.650000	0.86243	GGA		0.458	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1		NM_032136		17	140	0	0	0	0.006122	0	17	140		
TENM3	55714	broad.mit.edu	37	4	183673159	183673159	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:183673159T>C	ENST00000511685.1	+	20	3959	c.3836T>C	c.(3835-3837)gTg>gCg	p.V1279A	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.V1279A			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1279					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGAAGGCCGTGGAAGCCACA	0.463																																						uc003ivd.1		NaN																	0					0						c.(3835-3837)GTG>GCG		odz, odd Oz/ten-m homolog 3							29.0	31.0	31.0					4																	183673159		1946	4149	6095	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183673159T>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3836T>C	4.37:g.183673159T>C	ENSP00000424226:p.Val1279Ala					ODZ3_uc003ive.1_Missense_Mutation_p.V692A	p.V1279A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	19	3873	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1279			NHL 2.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3836T>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420153	0.25552	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85955	-2.05;-2.05	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.78207	0.4247	L	0.37800	1.135	0.33783	D	0.624492	B	0.15930	0.015	B	0.10450	0.005	T	0.74833	-0.3530	9	0.09338	T	0.73	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	1279	Q9P273	TEN3_HUMAN	A	1279	ENSP00000424226:V1279A;ENSP00000385276:V1279A	ENSP00000385276:V1279A	V	+	2	0	ODZ3	183910153	0.999000	0.42202	0.995000	0.50966	0.894000	0.52154	5.555000	0.67301	2.324000	0.78689	0.533000	0.62120	GTG		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				5	23	0	0	0	0.001168	0	5	23		
TRIO	7204	broad.mit.edu	37	5	14399069	14399069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:14399069C>T	ENST00000344204.4	+	30	4528	c.4504C>T	c.(4504-4506)Cga>Tga	p.R1502*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1453*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1502*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1502	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACCTTAATTCGAAAGGGTCG	0.398																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(4504-4506)CGA>TGA		triple functional domain (PTPRF interacting)							128.0	135.0	133.0					5																	14399069		2203	4300	6503	SO:0001587	stop_gained	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14399069C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4504C>T	5.37:g.14399069C>T	ENSP00000339299:p.Arg1502*					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Nonsense_Mutation_p.R1453*|TRIO_uc003jfh.1_Nonsense_Mutation_p.R1151*	p.R1502*	NM_007118	NP_009049	O75962	TRIO_HUMAN			30	4510	+	Lung NSC(4;0.000742)		1502			PH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.4504C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	45	11.768623	0.99601	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0674	0.64839	0.1506:0.8494:0.0:0.0	.	.	.	.	X	1502;1502;1453;1189	.	ENSP00000339299:R1502X	R	+	1	2	TRIO	14452069	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	5.890000	0.69774	2.524000	0.85096	0.591000	0.81541	CGA		0.398	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		11	137	0	0	0	0.001855	0	11	137		
DAB2	1601	broad.mit.edu	37	5	39392476	39392476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:39392476C>G	ENST00000320816.6	-	4	788	c.321G>C	c.(319-321)gaG>gaC	p.E107D	DAB2_ENST00000509337.1_Missense_Mutation_p.E107D|DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000545653.1_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCCCAGTTTTCTCATCAATTA	0.458																																						uc003jlx.2		NaN																	0				kidney(2)|skin(1)	3						c.(319-321)GAG>GAC		disabled homolog 2							82.0	88.0	86.0					5																	39392476		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39392476C>G	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.321G>C	5.37:g.39392476C>G	ENSP00000313391:p.Glu107Asp					DAB2_uc003jlw.2_Missense_Mutation_p.E107D	p.E107D	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		4	852	-	all_lung(31;0.000197)		107			PID.		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.321G>C	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309545	0.81247	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.71	3.94	0.45596	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.70595	2.14	0.58432	D	0.999998	P;D	0.53885	0.757;0.963	D;D	0.76575	0.98;0.988	T	0.75783	-0.3196	10	0.72032	D	0.01	-17.7663	9.947	0.41616	0.0:0.7308:0.0:0.2692	.	107;107	P98082;P98082-3	DAB2_HUMAN;.	D	107	ENSP00000313391:E107D;ENSP00000345508:E107D;ENSP00000439919:E107D;ENSP00000426245:E107D	ENSP00000313391:E107D	E	-	3	2	DAB2	39428233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	0.781000	0.33589	0.655000	0.94253	GAG		0.458	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1		NM_001343		3	48	0	0	0	0.009096	0	3	48		
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	T	rs180790607		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:45303797C>T	ENST00000303230.4	-	6	1579	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	508					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.V508M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTACCCACGGCTCCTTCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		16599	0.001		0.0	False		,,,				2504	0.0					uc003jok.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1522-1524)GTG>ATG		hyperpolarization activated cyclic							114.0	112.0	112.0					5																	45303797		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303797C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1522G>A	5.37:g.45303797C>T	ENSP00000307342:p.Val508Met						p.V508M	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1547	-			508			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1522G>A	CCDS3952.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.71	3.455540	0.63401	.	.	ENSG00000164588	ENST00000303230	D	0.92647	-3.08	5.62	5.62	0.85841	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000014	D	0.90563	0.7042	L	0.56280	1.765	0.80722	D	1	P	0.41366	0.747	B	0.36922	0.236	D	0.91316	0.5078	10	0.72032	D	0.01	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	508	O60741	HCN1_HUMAN	M	508	ENSP00000307342:V508M	ENSP00000307342:V508M	V	-	1	0	HCN1	45339554	0.980000	0.34600	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.809000	0.96659	0.655000	0.94253	GTG		0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		14	92	0	0	0	0.004007	0	14	92		
GZMA	3001	broad.mit.edu	37	5	54404206	54404206	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:54404206G>A	ENST00000274306.6	+	4	646	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCCGAGGTGGAAGAGACTCG	0.378																																						uc003jpm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(610-612)GGA>GAA		granzyme A precursor							76.0	78.0	77.0					5																	54404206		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54404206G>A		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.611G>A	5.37:g.54404206G>A	ENSP00000274306:p.Gly204Glu						p.G204E	NM_006144	NP_006135	P12544	GRAA_HUMAN			4	648	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	204			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.611G>A	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.979228	0.00448	.	.	ENSG00000145649	ENST00000274306	D	0.89875	-2.58	5.38	3.59	0.41128	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.403057	0.27966	N	0.017123	D	0.83562	0.5281	M	0.75085	2.285	0.34209	D	0.674062	P	0.42357	0.777	B	0.32533	0.147	D	0.84807	0.0788	10	0.59425	D	0.04	.	4.0067	0.09605	0.2748:0.1787:0.5465:0.0	.	204	P12544	GRAA_HUMAN	E	204	ENSP00000274306:G204E	ENSP00000274306:G204E	G	+	2	0	GZMA	54439963	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	1.181000	0.32017	0.822000	0.34565	-0.302000	0.09304	GGA		0.378	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2		NM_006144		7	87	0	0	0	0.006214	0	7	87		
GZMA	3001	broad.mit.edu	37	5	54404209	54404209	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:54404209G>A	ENST00000274306.6	+	4	649	c.614G>A	c.(613-615)aGa>aAa	p.R205K		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CGAGGTGGAAGAGACTCGTGC	0.383																																						uc003jpm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(613-615)AGA>AAA		granzyme A precursor							75.0	77.0	76.0					5																	54404209		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54404209G>A		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.614G>A	5.37:g.54404209G>A	ENSP00000274306:p.Arg205Lys						p.R205K	NM_006144	NP_006135	P12544	GRAA_HUMAN			4	651	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	205			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.614G>A	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.561152	0.00910	.	.	ENSG00000145649	ENST00000274306	D	0.87491	-2.26	5.38	1.71	0.24356	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452302	0.25881	N	0.027697	T	0.60932	0.2307	N	0.01493	-0.835	0.20403	N	0.999906	B	0.02656	0.0	B	0.01281	0.0	T	0.53982	-0.8361	10	0.02654	T	1	.	8.5444	0.33413	0.7111:0.0:0.2889:0.0	.	205	P12544	GRAA_HUMAN	K	205	ENSP00000274306:R205K	ENSP00000274306:R205K	R	+	2	0	GZMA	54439966	0.969000	0.33509	0.985000	0.45067	0.018000	0.09664	1.080000	0.30779	0.142000	0.18901	-0.404000	0.06349	AGA		0.383	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2		NM_006144		8	89	0	0	0	0.008291	0	8	89		
CD180	4064	broad.mit.edu	37	5	66479570	66479570	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:66479570C>G	ENST00000256447.4	-	3	1258	c.1101G>C	c.(1099-1101)gaG>gaC	p.E367D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	367					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTCCTAGTTTCTCCAAGCAGC	0.453																																						uc003juy.2		NaN																	0				ovary(1)	1						c.(1099-1101)GAG>GAC		CD180 molecule precursor							107.0	104.0	105.0					5																	66479570		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479570C>G	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1101G>C	5.37:g.66479570C>G	ENSP00000256447:p.Glu367Asp						p.E367D	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1249	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	367			Extracellular (Potential).		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1101G>C	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	C	1.380	-0.583807	0.03827	.	.	ENSG00000134061	ENST00000256447	T	0.59083	0.29	4.81	1.1	0.20463	.	0.160977	0.40302	N	0.001126	T	0.38108	0.1028	N	0.10837	0.055	0.27705	N	0.945645	B	0.22909	0.077	B	0.37015	0.239	T	0.37407	-0.9707	10	0.17832	T	0.49	.	9.4502	0.38721	0.0:0.3881:0.0:0.6119	.	367	Q99467	CD180_HUMAN	D	367	ENSP00000256447:E367D	ENSP00000256447:E367D	E	-	3	2	CD180	66515326	0.801000	0.28930	0.958000	0.39756	0.230000	0.25150	-0.042000	0.12063	0.355000	0.24131	-0.471000	0.05019	GAG		0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2		NM_005582		14	123	0	0	0	0.004007	0	14	123		
ARSB	411	broad.mit.edu	37	5	78260315	78260315	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:78260315C>T	ENST00000264914.4	-	3	1150	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ARSB_ENST00000565165.1_Missense_Mutation_p.G205E|ARSB_ENST00000396151.3_Missense_Mutation_p.G205E	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	205					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ATTTTTATATCCTGTTGCAAC	0.373																																					Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(613-615)GGA>GAA		arylsulfatase B isoform 1 precursor							89.0	84.0	85.0					5																	78260315		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260315C>T	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.614G>A	5.37:g.78260315C>T	ENSP00000264914:p.Gly205Glu					ARSB_uc003kfr.3_Missense_Mutation_p.G205E	p.G205E	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1900	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	205					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.614G>A	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436405	0.25813	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98437	-4.93;-4.93	5.36	4.33	0.51752	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.237331	0.42294	N	0.000740	D	0.91570	0.7337	N	0.05199	-0.095	0.32379	N	0.554788	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	D	0.86040	0.1519	10	0.06099	T	0.92	.	8.2653	0.31810	0.0:0.7816:0.0:0.2184	.	205;205	Q8N322;P15848	.;ARSB_HUMAN	E	205	ENSP00000264914:G205E;ENSP00000379455:G205E	ENSP00000264914:G205E	G	-	2	0	ARSB	78296071	0.370000	0.25047	0.997000	0.53966	0.996000	0.88848	1.322000	0.33689	1.031000	0.39867	0.650000	0.86243	GGA		0.373	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2		NM_000046		9	60	0	0	0	0.004482	0	9	60		
CHD1	1105	broad.mit.edu	37	5	98209411	98209411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:98209411G>A	ENST00000284049.3	-	25	3606	c.3457C>T	c.(3457-3459)Cga>Tga	p.R1153*	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1153					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCAGCATCTCGAGCAATTGCA	0.338																																						uc003knf.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(3457-3459)CGA>TGA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						162.0	149.0	154.0					5																	98209411		2202	4299	6501	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98209411G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3457C>T	5.37:g.98209411G>A	ENSP00000284049:p.Arg1153*					CHD1_uc010jbn.2_5'UTR	p.R1153*	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	25	3605	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1153					Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.3457C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	44	10.598457	0.99435	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.26	5.26	0.73747	.	0.000000	0.29126	U	0.013070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	14.5856	0.68322	0.0:0.0:0.821:0.179	.	.	.	.	X	1153	.	ENSP00000284049:R1153X	R	-	1	2	CHD1	98237311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.962000	0.56766	2.843000	0.97960	0.591000	0.81541	CGA		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270		10	90	0	0	0	0.008291	0	10	90		
TNFAIP8	25816	broad.mit.edu	37	5	118728967	118728967	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:118728967C>T	ENST00000503646.1	+	3	1176	c.488C>T	c.(487-489)tCa>tTa	p.S163L	TNFAIP8_ENST00000504642.1_Missense_Mutation_p.S165L|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.S163L|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.S153L|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.S175L|TNFAIP8_ENST00000415806.2_3'UTR			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	163					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		GATCATTTTTCAGATTGTGAA	0.388																																						uc003ksh.2		NaN																	0				ovary(1)	1						c.(487-489)TCA>TTA		tumor necrosis factor, alpha-induced protein 8							93.0	96.0	95.0					5																	118728967		1908	4157	6065	SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728967C>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.488C>T	5.37:g.118728967C>T	ENSP00000421848:p.Ser163Leu					TNFAIP8_uc003ksf.1_3'UTR|TNFAIP8_uc003ksg.2_Missense_Mutation_p.S153L|TNFAIP8_uc011cwf.1_Missense_Mutation_p.S157L|TNFAIP8_uc003ksi.2_Missense_Mutation_p.S163L	p.S163L	NM_014350	NP_055165	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	3	1176	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	163					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.488C>T	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924649	0.92319	.	.	ENSG00000145779	ENST00000274456;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000017	T	0.43722	0.1260	M	0.64997	1.995	0.80722	D	1	P;P;D	0.53885	0.838;0.633;0.963	B;B;B	0.43445	0.333;0.332;0.42	T	0.41342	-0.9514	10	0.54805	T	0.06	-19.7484	19.9285	0.97112	0.0:1.0:0.0:0.0	.	175;163;153	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	L	153;175;163;163;165	ENSP00000274456:S153L;ENSP00000427424:S175L;ENSP00000422245:S163L;ENSP00000421848:S163L;ENSP00000427160:S165L	ENSP00000274456:S153L	S	+	2	0	TNFAIP8	118756866	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.999000	0.70665	2.818000	0.97014	0.591000	0.81541	TCA		0.388	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2		NM_014350		7	122	0	0	0	0.001984	0	7	122		
PCDHB7	56129	broad.mit.edu	37	5	140552992	140552992	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140552992C>G	ENST00000231137.3	+	1	750	c.576C>G	c.(574-576)ccC>ccG	p.P192P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATCTATCCCGAATTGGTGC	0.493																																						uc003lit.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(574-576)CCC>CCG		protocadherin beta 7 precursor							69.0	66.0	67.0					5																	140552992		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552992C>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.576C>G	5.37:g.140552992C>G							p.P192P	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	750	+			192			Extracellular (Potential).|Cadherin 2.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.576C>G	CCDS4249.1																																																																																				0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940		6	84	0	0	0	0.001984	0	6	84		
PCDHB7	56129	broad.mit.edu	37	5	140553379	140553379	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140553379C>T	ENST00000231137.3	+	1	1137	c.963C>T	c.(961-963)gcC>gcT	p.A321A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCAGGCCAAAGACGGCG	0.428																																						uc003lit.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(961-963)GCC>GCT		protocadherin beta 7 precursor							62.0	66.0	64.0					5																	140553379		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553379C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.963C>T	5.37:g.140553379C>T							p.A321A	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1137	+			321			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.963C>T	CCDS4249.1																																																																																				0.428	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940		6	78	0	0	0	0.00308	0	6	78		
PCDHB16	57717	broad.mit.edu	37	5	140567301	140567301	+	IGR	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140567301G>C	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCACAAAGAGATGGTCTT	0.403																																						uc003liw.1		NaN																	0					0						c.(409-411)GAG>CAG		protocadherin beta 9 precursor							77.0	81.0	80.0					5																	140567301		2183	4293	6476	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567301G>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567301G>C							p.E137Q	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	409	+			137			Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.409G>C	CCDS4251.1																																																																																				0.403	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957		4	73	0	0	0	0.001168	0	4	73		
PCDHGB3	56102	broad.mit.edu	37	5	140751513	140751513	+	Nonsense_Mutation	SNP	C	C	T	rs200127619		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140751513C>T	ENST00000576222.1	+	1	1683	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGCGCAGCGAGCCTTCGA	0.677																																						uc003ljw.1		NaN																	0					0						c.(1552-1554)CGA>TGA		protocadherin gamma subfamily B, 3 isoform 1							43.0	48.0	46.0					5																	140751513		2109	4238	6347	SO:0001587	stop_gained	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751513C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1552C>T	5.37:g.140751513C>T	ENSP00000461862:p.Arg518*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.R518*|PCDHGA6_uc011dau.1_5'Flank	p.R518*	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1552	+			518			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	37	c.1552C>T	CCDS58980.1																																																																																				0.677	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		5	73	0	0	0	0.001168	0	5	73		
HTR4	3360	broad.mit.edu	37	5	147928367	147928367	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:147928367C>T	ENST00000377888.3	-	4	355	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	HTR4_ENST00000521735.1_Missense_Mutation_p.V73M|HTR4_ENST00000519495.1_5'Flank|HTR4_ENST00000521530.1_Missense_Mutation_p.V73M|HTR4_ENST00000360693.3_Missense_Mutation_p.V73M|HTR4_ENST00000354217.2_Missense_Mutation_p.V73M|HTR4_ENST00000362016.2_Missense_Mutation_p.V73M|HTR4_ENST00000517929.1_Missense_Mutation_p.V73M|HTR4_ENST00000314512.6_Missense_Mutation_p.V73M|HTR4_ENST00000520514.1_Missense_Mutation_p.V73M	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	73					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	AAGGGCATCACCAGCACCGAA	0.468																																					GBM(120;370 1604 14007 17804 41573)	uc003lpn.2		NaN																	0				ovary(1)	1						c.(217-219)GTG>ATG		serotonin 5-HT4 receptor isoform b	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						126.0	110.0	116.0					5																	147928367		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147928367C>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.217G>A	5.37:g.147928367C>T	ENSP00000367120:p.Val73Met					HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.V73M|HTR4_uc003lpj.1_Missense_Mutation_p.V73M|HTR4_uc003lpk.2_Missense_Mutation_p.V73M|HTR4_uc011dby.1_Missense_Mutation_p.V73M|HTR4_uc003lpl.2_Missense_Mutation_p.V73M|HTR4_uc003lpm.2_Missense_Mutation_p.V73M|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.V73M	p.V73M	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	381	-			73			Helical; Name=2; (By similarity).		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.217G>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801383	0.90538	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91985	0.7461	H	0.98218	4.175	0.58432	D	0.999993	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94318	0.7551	10	0.87932	D	0	.	18.8378	0.92169	0.0:1.0:0.0:0.0	.	73;73;73;73;73;73;73	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	M	73	ENSP00000428320:V73M;ENSP00000346156:V73M;ENSP00000314906:V73M;ENSP00000430979:V73M;ENSP00000435904:V73M;ENSP00000427913:V73M;ENSP00000367120:V73M;ENSP00000353915:V73M;ENSP00000355037:V73M	ENSP00000314906:V73M	V	-	1	0	HTR4	147908560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.797000	0.96272	0.650000	0.86243	GTG		0.468	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2		NM_000870		5	66	0	0	0	0.001984	0	5	66		
ARSI	340075	broad.mit.edu	37	5	149677553	149677553	+	Nonsense_Mutation	SNP	G	G	A	rs189890558		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:149677553G>A	ENST00000328668.7	-	2	1513	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	312					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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCGTCCTCGGAGCGGCCAG	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21187	0.0		0.0	False		,,,				2504	0.0					uc003lrv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(934-936)CGA>TGA		arylsulfatase family, member I precursor							40.0	36.0	37.0					5																	149677553		2203	4298	6501	SO:0001587	stop_gained	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677553G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.934C>T	5.37:g.149677553G>A	ENSP00000333395:p.Arg312*						p.R312*	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1523	-			312					A1L3B0|B3KV22|B7XD03	Nonsense_Mutation	SNP	ENST00000328668.7	37	c.934C>T	CCDS34275.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.4	4.999822	0.93227	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	.	.	.	4.46	3.57	0.40892	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0252	0.53367	0.0:0.0:0.6862:0.3138	.	.	.	.	X	312;169	.	ENSP00000333395:R312X	R	-	1	2	ARSI	149657746	0.985000	0.35326	0.991000	0.47740	0.977000	0.68977	1.828000	0.39111	1.194000	0.43101	0.561000	0.74099	CGA		0.592	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1		NM_001012301		9	78	0	0	0	0.004482	0	9	78		
DOCK2	1794	broad.mit.edu	37	5	169494582	169494582	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:169494582G>T	ENST00000256935.8	+	45	4616	c.4536G>T	c.(4534-4536)atG>atT	p.M1512I	DOCK2_ENST00000540750.1_Missense_Mutation_p.M573I|DOCK2_ENST00000520908.1_Missense_Mutation_p.M1004I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1512	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGATGATGATAAACCAGT	0.498																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(4534-4536)ATG>ATT		dedicator of cytokinesis 2							189.0	171.0	177.0					5																	169494582		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169494582G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4536G>T	5.37:g.169494582G>T	ENSP00000256935:p.Met1512Ile					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.M1004I|DOCK2_uc003mah.2_Missense_Mutation_p.M68I	p.M1512I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		45	4616	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1512			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4536G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130904	0.56828	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.16597	2.33;2.33;2.33	4.71	4.71	0.59529	.	0.046127	0.85682	D	0.000000	T	0.16342	0.0393	L	0.39898	1.24	0.44927	D	0.997943	B;B;B	0.22604	0.072;0.044;0.008	B;B;B	0.22386	0.026;0.039;0.006	T	0.03000	-1.1084	10	0.51188	T	0.08	.	13.7233	0.62743	0.0:0.1546:0.8454:0.0	.	1004;68;1512	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	I	1512;1004;573	ENSP00000256935:M1512I;ENSP00000429283:M1004I;ENSP00000438827:M573I	ENSP00000256935:M1512I	M	+	3	0	DOCK2	169427160	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.520000	0.67080	2.322000	0.78497	0.467000	0.42956	ATG		0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		7	103	1	0	5.18039e-06	0.00308	5.50003e-06	7	103		
SH3PXD2B	285590	broad.mit.edu	37	5	171765985	171765985	+	Silent	SNP	G	G	A	rs370525113		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:171765985G>A	ENST00000311601.5	-	13	2294	c.2124C>T	c.(2122-2124)cgC>cgT	p.R708R	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	708					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTCCTGGGCGCGGCCAGGCC	0.627																																						uc003mbr.2		NaN																	0				ovary(3)|skin(1)	4						c.(2122-2124)CGC>CGT		SH3 and PX domains 2B		G		0,4406		0,0,2203	34.0	36.0	35.0		2124	-10.8	0.0	5		35	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SH3PXD2B	NM_001017995.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		708/912	171765985	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765985G>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2124C>T	5.37:g.171765985G>A							p.R708R	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2295	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	708					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.2124C>T	CCDS34291.1																																																																																				0.627	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1		NM_017963		6	40	0	0	0	0.001984	0	6	40		
UIMC1	51720	broad.mit.edu	37	5	176370462	176370462	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:176370462C>T	ENST00000377227.4	-	10	1603	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	UIMC1_ENST00000511320.1_Missense_Mutation_p.E491K|UIMC1_ENST00000506128.1_Missense_Mutation_p.E325K|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377219.2_Missense_Mutation_p.E491K			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	491	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGCTACTTCCTTCTCAGCA	0.433																																						uc011dfp.1		NaN																	0				ovary(3)|skin(1)	4						c.(1471-1473)GAA>AAA		ubiquitin interaction motif containing 1							249.0	210.0	223.0					5																	176370462		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176370462C>T	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1471G>A	5.37:g.176370462C>T	ENSP00000366434:p.Glu491Lys					UIMC1_uc003mfc.1_Missense_Mutation_p.E368K|UIMC1_uc003mfd.1_Missense_Mutation_p.E121K|UIMC1_uc003mfg.1_Missense_Mutation_p.E210K|UIMC1_uc003mfe.1_RNA|UIMC1_uc003mff.1_Missense_Mutation_p.E121K	p.E491K	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1638	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	491			Necessary for interaction with NR6A1 C- terminus.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1471G>A	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018794	0.35606	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.14893	2.48;2.47;2.48;2.47	4.78	3.76	0.43208	.	0.733647	0.12752	N	0.442130	T	0.19565	0.0470	L	0.50333	1.59	0.27108	N	0.962446	P;P;B;P;P	0.46784	0.728;0.763;0.22;0.884;0.728	B;B;B;P;B	0.46076	0.297;0.229;0.062;0.503;0.297	T	0.11251	-1.0595	10	0.56958	D	0.05	.	6.0275	0.19662	0.0:0.7319:0.0:0.2681	.	491;210;325;121;413	Q96RL1;D6RCF3;C9JR12;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.;.;.	K	491;491;491;325;413;121	ENSP00000366434:E491K;ENSP00000366425:E491K;ENSP00000421926:E491K;ENSP00000427480:E325K	ENSP00000314909:E121K	E	-	1	0	UIMC1	176303068	0.709000	0.27886	0.882000	0.34594	0.079000	0.17450	1.051000	0.30417	0.975000	0.38392	0.561000	0.74099	GAA		0.433	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1		NM_016290		8	100	0	0	0	0.004482	0	8	100		
ADAMTS2	9509	broad.mit.edu	37	5	178541064	178541064	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:178541064G>T	ENST00000251582.7	-	22	3541	c.3440C>A	c.(3439-3441)tCc>tAc	p.S1147Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1147					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1147Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTGGTGCTGGAGGCATTGAG	0.557																																						uc003mjw.2		NaN																	1	Substitution - Missense(1)		cervix(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(3439-3441)TCC>TAC		ADAM metallopeptidase with thrombospondin type 1							204.0	190.0	195.0					5																	178541064		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541064G>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3440C>A	5.37:g.178541064G>T	ENSP00000251582:p.Ser1147Tyr					uc003mjv.3_5'Flank	p.S1147Y	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3440	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1147						Missense_Mutation	SNP	ENST00000251582.7	37	c.3440C>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359570	0.41801	.	.	ENSG00000087116	ENST00000251582	T	0.60424	0.19	5.05	4.05	0.47172	.	0.150804	0.30611	N	0.009251	T	0.48960	0.1529	L	0.27053	0.805	0.28039	N	0.933828	P	0.51653	0.947	P	0.47744	0.556	T	0.48958	-0.8988	10	0.56958	D	0.05	.	10.9156	0.47135	0.1284:0.0:0.8716:0.0	.	1147	O95450	ATS2_HUMAN	Y	1147	ENSP00000251582:S1147Y	ENSP00000251582:S1147Y	S	-	2	0	ADAMTS2	178473670	0.996000	0.38824	0.685000	0.30070	0.337000	0.28794	4.946000	0.63576	2.308000	0.77769	0.561000	0.74099	TCC		0.557	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244		12	135	1	0	2.62699e-14	0.003163	2.90658e-14	12	135		
MYLK4	340156	broad.mit.edu	37	6	2683270	2683270	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:2683270G>C	ENST00000274643.7	-	7	1014	c.672C>G	c.(670-672)ctC>ctG	p.L224L	MYLK4_ENST00000268446.5_Silent_p.L224L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGTCCAAGTGGAGAATGTACA	0.488																																						uc003mty.3		NaN																	0				breast(3)|ovary(1)	4						c.(670-672)CTC>CTG		myosin light chain kinase family, member 4							262.0	181.0	208.0					6																	2683270		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2683270G>C		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.672C>G	6.37:g.2683270G>C							p.L224L	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN			7	969	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	224			Protein kinase.		A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.672C>G	CCDS34330.1																																																																																				0.488	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2		NM_001012418		21	124	0	0	0	0.003954	0	21	124		
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199108	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:26199108C>G	ENST00000341023.1	-	1	363	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H3D_ENST00000377831.5_5'UTR|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTG	0.488																																						uc003ngw.2		NaN																	0					0						c.(364-366)GAG>CAG		histone cluster 1, H2ad							120.0	105.0	110.0					6																	26199108		2203	4300	6503	SO:0001583	missense	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199108C>G	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.364G>C	6.37:g.26199108C>G	ENSP00000341094:p.Glu122Gln					HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	p.E122Q	NM_021065	NP_066409	P20671	H2A1D_HUMAN			1	364	-		all_hematologic(11;0.196)	122					A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	ENST00000341023.1	37	c.364G>C	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.309280	0.23821	.	.	ENSG00000196866	ENST00000341023	T	0.42513	0.97	4.82	4.82	0.62117	Histone-fold (2);Histone H2A (1);	0.000000	0.43416	U	0.000575	T	0.18551	0.0445	N	0.21194	0.64	0.36589	D	0.873974	B	0.02656	0.0	B	0.04013	0.001	T	0.03249	-1.1056	10	0.38643	T	0.18	.	17.2301	0.86982	0.0:1.0:0.0:0.0	.	122	P20671	H2A1D_HUMAN	Q	122	ENSP00000341094:E122Q	ENSP00000341094:E122Q	E	-	1	0	HIST1H2AD	26307087	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.295000	0.78780	2.373000	0.80994	0.655000	0.94253	GAG		0.488	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1		NM_021065		14	83	0	0	0	0.003163	0	14	83		
HIST1H2AG	8969	broad.mit.edu	37	6	27101102	27101102	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:27101102C>A	ENST00000359193.2	+	1	271	c.252C>A	c.(250-252)ctC>ctA	p.L84L	HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	84						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGCGTCATCTCCAACTGGCCA	0.627																																						uc003niw.2		NaN																	0					0						c.(250-252)CTC>CTA		histone cluster 1, H2ag							104.0	101.0	102.0					6																	27101102		2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101102C>A	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.252C>A	6.37:g.27101102C>A						HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.L84L	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	286	+			84					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.252C>A	CCDS4619.1																																																																																				0.627	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1		NM_021064		18	144	1	0	1.10923e-09	0.00278	1.20853e-09	18	144		
HIST1H3H	8357	broad.mit.edu	37	6	27777942	27777942	+	Missense_Mutation	SNP	C	C	T	rs200796448		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:27777942C>T	ENST00000369163.2	+	1	101	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	31					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GAAGAGCGCTCCGGCCACCGG	0.657																																						uc003njm.2		NaN																	0				ovary(1)	1						c.(91-93)CCG>TCG		histone cluster 1, H3h							35.0	41.0	39.0					6																	27777942		2203	4298	6501	SO:0001583	missense	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27777942C>T	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"""Histones / Replication-dependent"""	4775	protein-coding gene	gene with protein product		602818	"""H3 histone family, member K"", ""histone 1, H3h"""	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.91C>T	6.37:g.27777942C>T	ENSP00000358160:p.Pro31Ser					HIST1H2BL_uc003njl.2_5'Flank	p.P31S	NM_003536	NP_003527	P68431	H31_HUMAN			1	101	+			31					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000369163.2	37	c.91C>T	CCDS4627.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.008699	0.35415	.	.	ENSG00000203813	ENST00000369163	T	0.45276	0.9	4.33	4.33	0.51752	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.41346	D	0.987336	.	.	.	.	.	.	T	0.61173	-0.7116	6	0.87932	D	0	.	16.683	0.85297	0.0:1.0:0.0:0.0	.	.	.	.	S	31	ENSP00000358160:P31S	ENSP00000358160:P31S	P	+	1	0	HIST1H3H	27885921	1.000000	0.71417	0.954000	0.39281	0.312000	0.27988	7.392000	0.79840	2.329000	0.79093	0.655000	0.94253	CCG		0.657	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1		NM_003536		5	67	0	0	0	0.001168	0	5	67		
HLA-G	3135	broad.mit.edu	37	6	29797699	29797699	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:29797699G>A	ENST00000360323.6	+	5	1026	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	HLA-G_ENST00000376815.3_Silent_p.K150K|HLA-G_ENST00000376818.3_Silent_p.K242K|HLA-G_ENST00000376828.2_Silent_p.K339K|HLA-G_ENST00000428701.1_Silent_p.K334K			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	334					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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGTGGAGAAAGAAGAGCTCAG	0.572																																						uc003nnw.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1000-1002)AAG>AAA		major histocompatibility complex, class I, G							78.0	71.0	74.0					6																	29797699		2203	4300	6503	SO:0001819	synonymous_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797699G>A		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.1002G>A	6.37:g.29797699G>A						HLA-G_uc011dmb.1_Silent_p.K306K|HLA-G_uc003raj.3_Silent_p.K339K|HLA-G_uc003nnz.3_Silent_p.K242K|HLA-G_uc010jrn.2_Silent_p.K150K|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_RNA	p.K334K	NM_002127	NP_002118	P17693	HLAG_HUMAN			6	1180	+			334			Cytoplasmic (Potential).			Silent	SNP	ENST00000360323.6	37	c.1002G>A	CCDS4668.1																																																																																				0.572	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2		NM_002127		13	89	0	0	0	0.00245	0	13	89		
APOM	55937	broad.mit.edu	37	6	31625244	31625244	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:31625244T>G	ENST00000375916.3	+	4	927	c.431T>G	c.(430-432)tTt>tGt	p.F144C	APOM_ENST00000375920.4_Missense_Mutation_p.F72C|APOM_ENST00000375918.2_Missense_Mutation_p.F72C|C6orf47-AS1_ENST00000422049.1_RNA	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	144					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|response to glucose (GO:0009749)|reverse cholesterol transport (GO:0043691)	discoidal high-density lipoprotein particle (GO:0034365)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|lipid transporter activity (GO:0005319)|phospholipid binding (GO:0005543)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TACCAGCGCTTTCTCCTCTAC	0.562																																					Colon(39;129 858 13764 41453 42617)	uc003nvl.2		NaN																	0					0						c.(430-432)TTT>TGT		apolipoprotein M							73.0	67.0	69.0					6																	31625244		1509	2709	4218	SO:0001583	missense	55937				cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity	g.chr6:31625244T>G	AJ245434	CCDS4710.1, CCDS59004.1	6p21	2014-01-22			ENSG00000204444	ENSG00000204444		"""Apolipoproteins"", ""Lipocalins"""	13916	protein-coding gene	gene with protein product		606907				10531326, 11418126	Standard	NM_019101		Approved	ApoM, G3a, NG20	uc003nvl.3	O95445	OTTHUMG00000031250	ENST00000375916.3:c.431T>G	6.37:g.31625244T>G	ENSP00000365081:p.Phe144Cys					APOM_uc003nvk.2_Missense_Mutation_p.F72C	p.F144C	NM_019101	NP_061974	O95445	APOM_HUMAN			4	504	+			144					B0UX98|Q5SRP4|Q9P046|Q9UMP6	Missense_Mutation	SNP	ENST00000375916.3	37	c.431T>G	CCDS4710.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964674	0.74131	.	.	ENSG00000204444	ENST00000375918;ENST00000375920;ENST00000375916	T;T;T	0.13778	2.56;2.56;2.56	5.66	5.66	0.87406	Calycin-like (1);Calycin (1);	0.113326	0.64402	D	0.000012	T	0.23289	0.0563	L	0.59436	1.845	0.46376	D	0.999014	D	0.89917	1.0	D	0.97110	1.0	T	0.01140	-1.1439	10	0.66056	D	0.02	-23.9556	12.2922	0.54825	0.0:0.0:0.0:1.0	.	144	O95445	APOM_HUMAN	C	72;72;144	ENSP00000365083:F72C;ENSP00000365085:F72C;ENSP00000365081:F144C	ENSP00000365081:F144C	F	+	2	0	APOM	31733223	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.522000	0.45572	2.166000	0.68216	0.455000	0.32223	TTT		0.562	APOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076527.3		NM_019101		5	75	0	0	0	0.001168	0	5	75		
HSPA1A	3303	broad.mit.edu	37	6	31785445	31785445	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:31785445G>A	ENST00000375651.5	+	1	2155	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	HSPA1L_ENST00000375654.4_5'Flank|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Missense_Mutation_p.E473K|HSPA1A_ENST00000458062.2_Missense_Mutation_p.E547K	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	638					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						CCCCACCATTGAGGAGGTAGA	0.547																																						uc003nxj.2		NaN																	0				ovary(1)	1						c.(1912-1914)GAG>AAG		heat shock 70kDa protein 1A							43.0	53.0	50.0					6																	31785445		1672	3218	4890	SO:0001583	missense	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785445G>A	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1912G>A	6.37:g.31785445G>A	ENSP00000364802:p.Glu638Lys					HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc003nxi.1_Missense_Mutation_p.E473K|uc011dok.1_RNA	p.E638K	NM_005345	NP_005336	P08107	HSP71_HUMAN			1	2155	+			638					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375651.5	37	c.1912G>A	CCDS34414.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094311	0.56075	.	.	ENSG00000204389	ENST00000375651;ENST00000375652;ENST00000541556;ENST00000458062	T;T	0.01527	5.07;4.8	3.83	3.83	0.44106	.	0.000000	0.38605	N	0.001639	T	0.09642	0.0237	H	0.96175	3.78	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.00992	-1.1488	10	0.87932	D	0	-39.466	13.6474	0.62290	0.0:0.0:1.0:0.0	.	638;473	P08107;Q5SP16	HSP71_HUMAN;.	K	638;473;620;547	ENSP00000364802:E638K;ENSP00000402651:E547K	ENSP00000364802:E638K	E	+	1	0	HSPA1A	31893424	1.000000	0.71417	0.996000	0.52242	0.036000	0.12997	9.482000	0.97935	2.160000	0.67779	0.460000	0.39030	GAG		0.547	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2				6	83	0	0	0	0.00308	0	6	83		
CUL7	9820	broad.mit.edu	37	6	43012542	43012542	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:43012542C>G	ENST00000265348.3	-	16	3205	c.3120G>C	c.(3118-3120)aaG>aaC	p.K1040N	CUL7_ENST00000535468.1_Missense_Mutation_p.K1124N|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1040					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGCAGGTCTTGCCCAGAG	0.597																																						uc003otq.2		NaN																	0				ovary(3)|kidney(1)	4						c.(3118-3120)AAG>AAC		cullin 7							94.0	89.0	91.0					6																	43012542		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43012542C>G	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3120G>C	6.37:g.43012542C>G	ENSP00000265348:p.Lys1040Asn					CUL7_uc010jyg.2_Missense_Mutation_p.K319N|CUL7_uc011dvb.1_Missense_Mutation_p.K1124N|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.K1040N	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		16	3423	-			1040					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3120G>C	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056640	0.76074	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.81659	-1.5;-1.52	5.18	5.18	0.71444	.	0.100011	0.64402	D	0.000003	D	0.86439	0.5933	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	P;D;D	0.76575	0.844;0.978;0.988	D	0.87795	0.2621	10	0.87932	D	0	-7.6933	18.6942	0.91594	0.0:1.0:0.0:0.0	.	1124;1124;1040	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	N	1040;1124	ENSP00000265348:K1040N;ENSP00000438788:K1124N	ENSP00000265348:K1040N	K	-	3	2	CUL7	43120520	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.451000	0.44952	2.422000	0.82143	0.462000	0.41574	AAG		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		NM_014780		7	97	0	0	0	0.00308	0	7	97		
MED23	9439	broad.mit.edu	37	6	131923477	131923477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:131923477G>T	ENST00000368068.3	-	17	2155	c.1976C>A	c.(1975-1977)tCa>tAa	p.S659*	MED23_ENST00000368058.1_Nonsense_Mutation_p.S665*|MED23_ENST00000540546.1_Nonsense_Mutation_p.S665*|MED23_ENST00000545957.1_Nonsense_Mutation_p.S300*|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368060.3_Nonsense_Mutation_p.S659*|MED23_ENST00000403834.3_Nonsense_Mutation_p.S665*|MED23_ENST00000354577.4_Nonsense_Mutation_p.S665*|MED23_ENST00000368053.4_Nonsense_Mutation_p.S665*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	659					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTGTACCTCTGAGCTACCTAA	0.403																																						uc003qcs.1		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1975-1977)TCA>TAA		mediator complex subunit 23 isoform a							131.0	114.0	120.0					6																	131923477		2203	4300	6503	SO:0001587	stop_gained	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131923477G>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1976C>A	6.37:g.131923477G>T	ENSP00000357047:p.Ser659*					MED23_uc003qcq.2_Nonsense_Mutation_p.S665*|MED23_uc011eca.1_Nonsense_Mutation_p.S300*|MED23_uc003qct.1_Nonsense_Mutation_p.S665*|MED23_uc011ecb.1_RNA	p.S659*	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	17	2150	-	Breast(56;0.0753)		659					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	ENST00000368068.3	37	c.1976C>A	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590485	0.86851	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.397	19.8316	0.96638	0.0:0.0:1.0:0.0	.	.	.	.	X	665;659;665;659;48;665;300;665;665	.	ENSP00000346588:S665X	S	-	2	0	MED23	131965170	1.000000	0.71417	0.920000	0.36463	0.706000	0.40770	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	TCA		0.403	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1				6	70	1	0	5.18039e-06	0.00308	5.50003e-06	6	70		
VIP	7432	broad.mit.edu	37	6	153073417	153073417	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:153073417C>T	ENST00000367244.3	+	2	277	c.105C>T	c.(103-105)ctC>ctT	p.L35L	VIP_ENST00000367243.3_Silent_p.L35L	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	35					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTTCTGCTCTCAGGTAAGTTC	0.423																																						uc003qpe.2		NaN																	0					0						c.(103-105)CTC>CTT		vasoactive intestinal peptide isoform 1							111.0	95.0	101.0					6																	153073417		2203	4300	6503	SO:0001819	synonymous_variant	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153073417C>T		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.105C>T	6.37:g.153073417C>T						VIP_uc003qpf.2_Silent_p.L35L|VIP_uc010kjd.2_Silent_p.L35L	p.L35L	NM_003381	NP_003372	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	2	277	+		Ovarian(120;0.0654)	35					Q5TCY8|Q5TCY9|Q96QK3	Silent	SNP	ENST00000367244.3	37	c.105C>T	CCDS5240.1																																																																																				0.423	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1				6	41	0	0	0	0.001168	0	6	41		
SLC22A2	6582	broad.mit.edu	37	6	160663435	160663435	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:160663435C>G	ENST00000366953.3	-	8	1538		c.e8-1		SLC22A2_ENST00000491092.1_Splice_Site	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2						body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CATTGTAGATCTAAGAGGGAA	0.448																																						uc003qtf.2		NaN																	0				breast(1)|skin(1)	2						c.e8-1		solute carrier family 22 member 2							125.0	114.0	118.0					6																	160663435		2203	4300	6503	SO:0001630	splice_region_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160663435C>G	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1280-1G>C	6.37:g.160663435C>G						SLC22A2_uc003qte.1_Splice_Site_p.D427_splice	p.D427_splice	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	8	1450	-		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Splice_Site	SNP	ENST00000366953.3	37	c.1280_splice	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.552331	0.27739	.	.	ENSG00000112499	ENST00000366953	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1276	0.93391	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A2	160583425	1.000000	0.71417	0.477000	0.27303	0.003000	0.03518	7.386000	0.79775	2.813000	0.96785	0.655000	0.94253	.		0.448	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1		NM_003058	Intron	8	65	0	0	0	0.004482	0	8	65		
RNASET2	8635	broad.mit.edu	37	6	167352457	167352457	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:167352457C>T	ENST00000508775.1	-	6	891	c.372G>A	c.(370-372)caG>caA	p.Q124Q	RP11-514O12.4_ENST00000507747.1_Missense_Mutation_p.R105K|RNASET2_ENST00000476238.2_Silent_p.Q124Q|RNASET2_ENST00000496851.2_5'UTR|RNASET2_ENST00000366855.6_Silent_p.Q86Q	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	124					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GCGCATCCACCTGGGCGGCGC	0.562																																						uc003qve.2		NaN																	0					0						c.(370-372)CAG>CAA		ribonuclease T2 precursor							101.0	92.0	95.0					6																	167352457		2203	4300	6503	SO:0001819	synonymous_variant	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167352457C>T	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.372G>A	6.37:g.167352457C>T						RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Silent_p.Q32Q|RNASET2_uc003qvg.2_Silent_p.Q61Q|RNASET2_uc003qvi.1_Missense_Mutation_p.R12K	p.Q124Q	NM_003730	NP_003721	O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	6	779	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	124					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Silent	SNP	ENST00000508775.1	37	c.372G>A	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	C	1.044	-0.677800	0.03378	.	.	ENSG00000249141;ENSG00000026297	ENST00000507747;ENST00000310843	.	.	.	5.23	4.36	0.52297	.	.	.	.	.	T	0.28665	0.0710	.	.	.	0.36720	D	0.881143	P	0.40834	0.73	P	0.44394	0.448	T	0.09640	-1.0665	7	0.23891	T	0.37	-16.058	7.2483	0.26135	0.1668:0.7456:0.0:0.0876	.	12	Q5TCT2	.	K	105;109	.	ENSP00000308991:R109K	R	-	2	0	RNASET2;RP11-514O12.4	167272447	0.089000	0.21612	0.231000	0.23993	0.317000	0.28152	0.286000	0.18902	1.339000	0.45563	0.462000	0.41574	AGG		0.562	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2		NM_003730		9	110	0	0	0	0.001368	0	9	110		
EIF2AK1	27102	broad.mit.edu	37	7	6080762	6080762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:6080762C>T	ENST00000199389.6	-	9	1026	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E170K	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTGTCAGATTCTCCAAAGCGT	0.408																																						uc003spp.2		NaN																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(880-882)GAA>AAA		eukaryotic translation initiation factor 2-alpha							119.0	121.0	120.0					7																	6080762		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6080762C>T	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.880G>A	7.37:g.6080762C>T	ENSP00000199389:p.Glu294Lys					EIF2AK1_uc003spq.2_Missense_Mutation_p.E293K|EIF2AK1_uc011jwm.1_Missense_Mutation_p.E170K|EIF2AK1_uc003spr.1_Missense_Mutation_p.E86K	p.E294K	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	9	1026	-		Ovarian(82;0.0423)	294			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.880G>A	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	11.69	1.712927	0.30413	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.69435	-0.38;-0.4	5.68	3.89	0.44902	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.465056	0.25109	N	0.033068	T	0.43523	0.1251	N	0.17345	0.48	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.001	B;B;B	0.14578	0.011;0.006;0.002	T	0.23476	-1.0187	10	0.07990	T	0.79	-17.1982	8.0564	0.30608	0.0:0.7514:0.0:0.2486	.	170;293;294	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	K	294;170	ENSP00000199389:E294K;ENSP00000445784:E170K	ENSP00000199389:E294K	E	-	1	0	EIF2AK1	6047288	0.000000	0.05858	0.007000	0.13788	0.037000	0.13140	-0.020000	0.12525	0.772000	0.33382	-0.136000	0.14681	GAA		0.408	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2		NM_014413		15	125	0	0	0	0.003163	0	15	125		
RAC1	5879	broad.mit.edu	37	7	6431604	6431604	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:6431604C>G	ENST00000348035.4	+	3	370	c.157C>G	c.(157-159)Ctg>Gtg	p.L53V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.L53V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	53					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	ACCGGTGAATCTGGGCTTATG	0.413																																						uc003spx.2		NaN																	0				lung(2)	2						c.(157-159)CTG>GTG		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						120.0	114.0	116.0					7																	6431604		2203	4297	6500	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6431604C>G	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.157C>G	7.37:g.6431604C>G	ENSP00000258737:p.Leu53Val					RAC1_uc003spw.2_Missense_Mutation_p.L53V	p.L53V	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	3	398	+		Ovarian(82;0.0776)	53					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.157C>G	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288083	0.80803	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.83837	-1.77;-1.77	5.29	4.39	0.52855	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.89715	0.6795	M	0.78049	2.395	0.80722	D	1	P;P	0.37548	0.599;0.599	P;P	0.58577	0.841;0.801	D	0.90048	0.4147	10	0.87932	D	0	.	11.1533	0.48473	0.0:0.8543:0.0:0.1457	.	53;53	P63000;A4D2P0	RAC1_HUMAN;.	V	53	ENSP00000258737:L53V;ENSP00000348461:L53V	ENSP00000258737:L53V	L	+	1	2	RAC1	6398129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.711000	0.47177	2.634000	0.89283	0.650000	0.86243	CTG		0.413	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2		NM_018890		9	129	0	0	0	0.006214	0	9	129		
MEOX2	4223	broad.mit.edu	37	7	15652020	15652020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:15652020G>A	ENST00000262041.5	-	3	1316	c.907C>T	c.(907-909)Cac>Tac	p.H303Y		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	303					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TATCATAAGTGCGCATGCTCT	0.478																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(907-909)CAC>TAC		mesenchyme homeobox 2							119.0	103.0	108.0					7																	15652020		2203	4300	6503	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15652020G>A		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.907C>T	7.37:g.15652020G>A	ENSP00000262041:p.His303Tyr					MEOX2_uc011jxw.1_Missense_Mutation_p.H303Y	p.H303Y	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	3	1188	-			303					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.907C>T	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195941	0.58126	.	.	ENSG00000106511	ENST00000262041	D	0.91351	-2.83	5.51	5.51	0.81932	.	0.052236	0.85682	D	0.000000	D	0.91157	0.7215	N	0.24115	0.695	0.58432	D	0.999998	D	0.53885	0.963	P	0.58266	0.836	D	0.92486	0.5996	10	0.87932	D	0	-16.2138	19.4309	0.94765	0.0:0.0:1.0:0.0	.	303	P50222	MEOX2_HUMAN	Y	303	ENSP00000262041:H303Y	ENSP00000262041:H303Y	H	-	1	0	MEOX2	15618545	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.096000	0.94182	2.595000	0.87683	0.563000	0.77884	CAC		0.478	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2		NM_005924		8	64	0	0	0	0.004482	0	8	64		
AHR	196	broad.mit.edu	37	7	17382605	17382605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:17382605C>T	ENST00000242057.4	+	11	3107	c.2464C>T	c.(2464-2466)Cag>Tag	p.Q822*		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	822				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). {ECO:0000305}.	apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AAATAACACTCAGACTACCAC	0.368																																						uc011jxz.1		NaN																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(2464-2466)CAG>TAG		aryl hydrocarbon receptor precursor							188.0	178.0	182.0					7																	17382605		2203	4300	6503	SO:0001587	stop_gained	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17382605C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2464C>T	7.37:g.17382605C>T	ENSP00000242057:p.Gln822*					AHR_uc003stt.3_RNA	p.Q822*	NM_001621	NP_001612	P35869	AHR_HUMAN			11	3077	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		822	LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).				A4D130|Q13728|Q13803|Q13804	Nonsense_Mutation	SNP	ENST00000242057.4	37	c.2464C>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	39	7.648333	0.98409	.	.	ENSG00000106546	ENST00000242057	.	.	.	4.92	2.05	0.26809	.	0.542144	0.19216	N	0.119809	.	.	.	.	.	.	0.51767	D	0.999935	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	11.6484	0.51273	0.1302:0.6191:0.2507:0.0	.	.	.	.	X	822	.	ENSP00000242057:Q822X	Q	+	1	0	AHR	17349130	0.686000	0.27661	0.004000	0.12327	0.067000	0.16453	0.697000	0.25556	0.305000	0.22832	0.655000	0.94253	CAG		0.368	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2		NM_001621		20	135	0	0	0	0.00278	0	20	135		
PDE1C	5137	broad.mit.edu	37	7	31862716	31862716	+	Missense_Mutation	SNP	C	C	T	rs201423905		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:31862716C>T	ENST00000396191.1	-	14	2008	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Missense_Mutation_p.R518Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R578Q|PDE1C_ENST00000396184.3_Missense_Mutation_p.R518Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R518Q	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	518	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCATCTCTCCCGATTGATGTG	0.473																																						uc003tcm.1		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(1552-1554)CGG>CAG		phosphodiesterase 1C							198.0	173.0	181.0					7																	31862716		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862716C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1553G>A	7.37:g.31862716C>T	ENSP00000379494:p.Arg518Gln					PDE1C_uc003tcn.1_Missense_Mutation_p.R518Q|PDE1C_uc003tco.1_Missense_Mutation_p.R578Q|PDE1C_uc003tcr.2_Missense_Mutation_p.R518Q|PDE1C_uc003tcs.2_Missense_Mutation_p.R518Q	p.R518Q	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	2022	-			518			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1553G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	36	5.775323	0.96922	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.74315	-0.83;-0.82;-0.82;-0.75;-0.75	5.79	5.79	0.91817	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.377651	0.28448	N	0.015302	T	0.77877	0.4196	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.71674	0.988;0.995;0.998	P;P;P	0.56788	0.75;0.788;0.806	T	0.79923	-0.1598	10	0.87932	D	0	.	19.6158	0.95633	0.0:1.0:0.0:0.0	.	518;578;518	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	Q	578;518;518;518;518	ENSP00000379496:R578Q;ENSP00000379494:R518Q;ENSP00000318105:R518Q;ENSP00000379487:R518Q;ENSP00000379485:R518Q	ENSP00000318105:R518Q	R	-	2	0	PDE1C	31829241	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.169000	0.77578	2.739000	0.93911	0.563000	0.77884	CGG		0.473	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1				11	185	0	0	0	0.000978	0	11	185		
MYO1G	64005	broad.mit.edu	37	7	45016619	45016619	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:45016619C>T	ENST00000258787.7	-	2	283	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	49	Myosin motor.		V -> M (in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes; dbSNP:rs61739531). {ECO:0000269|PubMed:11544309}.			extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTAGGGGTTCACGGACACCA	0.627																																						uc003tmh.2		NaN																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(145-147)GTG>GTA		myosin IG							76.0	71.0	73.0					7																	45016619		2203	4300	6503	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45016619C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.147G>A	7.37:g.45016619C>T						MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	p.V49V	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			2	291	-			49		V -> M (in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes).	Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.147G>A	CCDS34629.1																																																																																				0.627	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2				13	94	0	0	0	0.004007	0	13	94		
WBSCR17	64409	broad.mit.edu	37	7	71036334	71036334	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:71036334C>G	ENST00000333538.5	+	6	1661	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	343	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATTGGTCTTCTGGATCCTGG	0.498																																						uc003tvy.2		NaN																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1027-1029)CTG>GTG		UDP-GalNAc:polypeptide							218.0	207.0	210.0					7																	71036334		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71036334C>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1027C>G	7.37:g.71036334C>G	ENSP00000329654:p.Leu343Val					WBSCR17_uc003tvz.2_Missense_Mutation_p.L42V	p.L343V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			6	1027	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	343			Catalytic subdomain B.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1027C>G	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376836	0.82682	.	.	ENSG00000185274	ENST00000333538	T	0.61392	0.11	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	T	0.78457	0.4286	M	0.89095	3.005	0.58432	D	0.999998	D	0.65815	0.995	D	0.65573	0.936	T	0.82729	-0.0313	10	0.87932	D	0	.	15.2514	0.73549	0.0:1.0:0.0:0.0	.	343	Q6IS24	GLTL3_HUMAN	V	343	ENSP00000329654:L343V	ENSP00000329654:L343V	L	+	1	2	WBSCR17	70674270	0.994000	0.37717	0.997000	0.53966	0.973000	0.67179	3.174000	0.50847	2.629000	0.89072	0.637000	0.83480	CTG		0.498	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1		NM_022479		9	154	0	0	0	0.008291	0	9	154		
CALCR	799	broad.mit.edu	37	7	93108727	93108727	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:93108727C>T	ENST00000394441.1	-	3	459	c.144G>A	c.(142-144)atG>atA	p.M48I	CALCR_ENST00000421592.1_Missense_Mutation_p.M48I|CALCR_ENST00000360249.4_Missense_Mutation_p.M48I|CALCR_ENST00000426151.1_Missense_Mutation_p.M48I|CALCR_ENST00000359558.2_Missense_Mutation_p.M66I	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	66					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GTGCATCCATCATCTTCTTTC	0.413																																						uc003umv.1		NaN																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(196-198)ATG>ATA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						272.0	252.0	259.0					7																	93108727		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93108727C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.144G>A	7.37:g.93108727C>T	ENSP00000377959:p.Met48Ile					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.M48I|CALCR_uc003umw.2_Missense_Mutation_p.M48I	p.M66I	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	459	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		48			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.198G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	0.692	-0.794072	0.02862	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.21	2.19	0.27852	.	.	.	.	.	T	0.25306	0.0615	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.31024	-0.9958	9	0.02654	T	1	.	3.9611	0.09410	0.1577:0.4533:0.305:0.084	.	66;48	F5H605;A4D1G6	.;.	I	66;48;48;48;48;48	ENSP00000352561:M66I;ENSP00000353385:M48I;ENSP00000399552:M48I;ENSP00000377959:M48I;ENSP00000389295:M48I	ENSP00000352561:M66I	M	-	3	0	CALCR	92946663	0.008000	0.16893	0.010000	0.14722	0.077000	0.17291	-0.029000	0.12329	0.865000	0.35603	0.650000	0.86243	ATG		0.413	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2		NM_001742		16	209	0	0	0	0.002299	0	16	209		
STAG3	10734	broad.mit.edu	37	7	99796487	99796487	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:99796487G>A	ENST00000426455.1	+	14	1781	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Silent_p.E400E|STAG3_ENST00000317296.5_Silent_p.E458E	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	458					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGAGTGCGAGATAAGAATGA	0.547																																						uc003utx.1		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1372-1374)GAG>GAA		stromal antigen 3							105.0	105.0	105.0					7																	99796487		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99796487G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1374G>A	7.37:g.99796487G>A						STAG3_uc010lgs.1_Silent_p.E246E|STAG3_uc011kjk.1_Silent_p.E400E|STAG3_uc003uub.1_5'Flank	p.E458E	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			14	1529	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		458					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.1374G>A	CCDS34703.1																																																																																				0.547	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2		NM_012447		9	125	0	0	0	0.000978	0	9	125		
CTTNBP2	83992	broad.mit.edu	37	7	117431578	117431578	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:117431578G>A	ENST00000160373.3	-	4	1763	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	558	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGTGTGGTGGAGAAGGAGTT	0.502																																						uc003vjf.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1672-1674)CCA>TCA		cortactin binding protein 2							116.0	123.0	121.0					7																	117431578		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431578G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1672C>T	7.37:g.117431578G>A	ENSP00000160373:p.Pro558Ser						p.P558S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1764	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		558			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1672C>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.724648|3.724648	0.68959|0.68959	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|T	0.61859|0.70282	0.07|-0.47	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.047442|.	0.85682|.	D|.	0.000000|.	T|T	0.79305|0.79305	0.4423|0.4423	M|M	0.64080|0.64080	1.96|1.96	0.45962|0.45962	D|D	0.998782|0.998782	D|.	0.67145|.	0.996|.	P|.	0.54499|.	0.754|.	T|T	0.80348|0.80348	-0.1420|-0.1420	10|7	0.31617|0.87932	T|D	0.26|0	-2.8942|-2.8942	15.0643|15.0643	0.71980|0.71980	0.0:0.0:0.8581:0.1419|0.0:0.0:0.8581:0.1419	.|.	558|.	Q8WZ74|.	CTTB2_HUMAN|.	S|F	558|86	ENSP00000160373:P558S|ENSP00000389576:S86F	ENSP00000160373:P558S|ENSP00000389576:S86F	P|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117218814|117218814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.415000|4.415000	0.59809|0.59809	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.502	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		NM_033427		9	140	0	0	0	0.008291	0	9	140		
CADPS2	93664	broad.mit.edu	37	7	122130198	122130198	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:122130198G>A	ENST00000449022.2	-	11	1808	c.1789C>T	c.(1789-1791)Cct>Tct	p.P597S	CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000334010.7_Missense_Mutation_p.P597S|CADPS2_ENST00000412584.2_Missense_Mutation_p.P597S|CADPS2_ENST00000313070.7_Missense_Mutation_p.P597S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	597					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAATTGCAGGAACTGGTTTA	0.368																																						uc010lkp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1789-1791)CCT>TCT		Ca2+-dependent activator protein for secretion 2							127.0	124.0	125.0					7																	122130198		1871	4098	5969	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122130198G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1789C>T	7.37:g.122130198G>A	ENSP00000398481:p.Pro597Ser					CADPS2_uc003vkg.3_Missense_Mutation_p.P297S|CADPS2_uc010lkq.2_Missense_Mutation_p.P597S	p.P597S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			11	1952	-			597					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1789C>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.184366|3.184366	0.57800|0.57800	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.52295|.	0.67;0.7;0.67;0.68|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75729|0.75729	0.3889|0.3889	M|M	0.78637|0.78637	2.42|2.42	0.58432|0.58432	D|D	0.999991|0.999991	P;B;P|.	0.41102|.	0.738;0.108;0.578|.	P;B;P|.	0.51079|.	0.658;0.027;0.47|.	T|T	0.76408|0.76408	-0.2970|-0.2970	10|5	0.87932|.	D|.	0|.	-14.8572|-14.8572	14.9712|14.9712	0.71235|0.71235	0.0:0.1423:0.8577:0.0|0.0:0.1423:0.8577:0.0	.|.	597;597;597|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	S|F	597;597;597;564;597;597|245	ENSP00000325581:P597S;ENSP00000333940:P597S;ENSP00000400401:P597S;ENSP00000398481:P597S|.	ENSP00000325581:P597S|.	P|S	-|-	1|2	0|0	CADPS2|CADPS2	121917434|121917434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	6.407000|6.407000	0.73280|0.73280	2.587000|2.587000	0.87381|0.87381	0.491000|0.491000	0.48974|0.48974	CCT|TCC		0.368	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2		NM_017954		5	83	0	0	0	0.001168	0	5	83		
POT1	25913	broad.mit.edu	37	7	124503433	124503433	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:124503433C>T	ENST00000357628.3	-	8	1115	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	POT1_ENST00000393329.1_Missense_Mutation_p.E42K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	173					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCGTCCACTTCTGCTTTGCCC	0.388																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NaN																	0				central_nervous_system(1)	1						c.(517-519)GAA>AAA		protection of telomeres 1 isoform 1							111.0	105.0	107.0					7																	124503433		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503433C>T	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.517G>A	7.37:g.124503433C>T	ENSP00000350249:p.Glu173Lys					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.E42K|POT1_uc003vln.2_RNA	p.E173K	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			8	1118	-			173					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.517G>A	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364343	0.24684	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.44482	0.92;1.01	5.47	1.44	0.22558	Nucleic acid-binding, OB-fold-like (1);	0.379412	0.30649	N	0.009161	T	0.31327	0.0793	L	0.51422	1.61	0.32310	N	0.563878	B	0.18741	0.03	B	0.12156	0.007	T	0.40646	-0.9552	10	0.08837	T	0.75	-26.3904	11.2739	0.49155	0.0:0.4518:0.4746:0.0736	.	173	Q9NUX5	POTE1_HUMAN	K	173;42;173;173;173;172	ENSP00000350249:E173K;ENSP00000377002:E42K	ENSP00000265391:E172K	E	-	1	0	POT1	124290669	0.992000	0.36948	0.967000	0.41034	0.990000	0.78478	0.234000	0.17930	-0.019000	0.14055	0.650000	0.86243	GAA		0.388	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1				14	96	0	0	0	0.006122	0	14	96		
SMO	6608	broad.mit.edu	37	7	128845541	128845541	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:128845541G>T	ENST00000249373.3	+	4	1118	c.838G>T	c.(838-840)Ggc>Tgc	p.G280C		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	280					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GGGCAGCATTGGCTGGCTGGC	0.582			Mis		skin basal cell																																	uc003vor.2		NaN		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		0				skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(838-840)GGC>TGC		smoothened precursor							80.0	78.0	78.0					7																	128845541		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128845541G>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.838G>T	7.37:g.128845541G>T	ENSP00000249373:p.Gly280Cys					SMO_uc003vos.2_5'Flank	p.G280C	NM_005631	NP_005622	Q99835	SMO_HUMAN			4	1118	+			280			Helical; Name=2; (Potential).		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.838G>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130312	0.94473	.	.	ENSG00000128602	ENST00000249373	D	0.83250	-1.7	5.57	5.57	0.84162	GPCR, family 2-like (1);	0.048605	0.85682	D	0.000000	D	0.92747	0.7694	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93703	0.7017	10	0.87932	D	0	.	18.5223	0.90958	0.0:0.0:1.0:0.0	.	280	Q99835	SMO_HUMAN	C	280	ENSP00000249373:G280C	ENSP00000249373:G280C	G	+	1	0	SMO	128632777	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.795000	0.99099	2.620000	0.88729	0.491000	0.48974	GGC		0.582	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1		NM_005631		19	79	1	0	4.26978e-12	0.00333	4.70335e-12	19	79		
C7orf55	154791	broad.mit.edu	37	7	139026236	139026236	+	Missense_Mutation	SNP	C	C	G	rs544455569		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:139026236C>G	ENST00000297534.6	+	1	359	c.106C>G	c.(106-108)Cgg>Ggg	p.R36G	LUC7L2_ENST00000541515.3_Missense_Mutation_p.R36G|C7orf55_ENST00000481123.1_Intron|C7orf55-LUC7L2_ENST00000541170.3_Intron	NM_197964.4	NP_932068.2	Q96HJ9	CG055_HUMAN	chromosome 7 open reading frame 55	36						mitochondrion (GO:0005739)				breast(1)|lung(2)	3						CGCGGCCTATCGGTACCTTGT	0.657											OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kqt.1		NaN																	0					0						c.(106-108)CGG>GGG		LUC7-like 2							52.0	55.0	54.0					7																	139026236		2203	4300	6503	SO:0001583	missense	51631						enzyme binding|metal ion binding	g.chr7:139026236C>G	AF161386	CCDS5853.1	7q34	2009-01-22	2009-01-22	2009-01-22	ENSG00000164898	ENSG00000164898			26946	protein-coding gene	gene with protein product	"""formation of mitochondrial complexes 1 homolog (S. cerevisiae)"""					12477932	Standard	NM_197964		Approved	HSPC268, FMC1		Q96HJ9	OTTHUMG00000151719	ENST00000297534.6:c.106C>G	7.37:g.139026236C>G	ENSP00000297534:p.Arg36Gly		OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1645	LUC7L2_uc011kqs.1_Intron|C7orf55_uc003vuw.3_Missense_Mutation_p.R36G	p.R36G	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			1	340	+	Melanoma(164;0.242)		Error:Variant_position_missing_in_Q9Y383_after_alignment					B7Z4Q3|Q75M90|Q9P0B3	Missense_Mutation	SNP	ENST00000297534.6	37	c.106C>G	CCDS5853.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524888	0.64747	.	.	ENSG00000164898;ENSG00000146963	ENST00000297534;ENST00000541515	T;T	0.48201	0.82;1.43	5.1	4.21	0.49690	.	0.152028	0.42548	D	0.000692	T	0.43100	0.1232	L	0.57536	1.79	0.43628	D	0.996013	P;B	0.38827	0.649;0.369	B;B	0.34385	0.1;0.181	T	0.49826	-0.8898	10	0.72032	D	0.01	-12.1956	12.9321	0.58292	0.2947:0.7053:0.0:0.0	.	36;36	B7Z4Q3;Q96HJ9	.;CG055_HUMAN	G	36	ENSP00000297534:R36G;ENSP00000440222:R36G	ENSP00000297534:R36G	R	+	1	2	LUC7L2;C7orf55	138676776	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.291000	0.43540	1.370000	0.46153	0.591000	0.81541	CGG		0.657	C7orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323626.1		NM_197964		8	76	0	0	0	0.00308	0	8	76		
SLC37A3	84255	broad.mit.edu	37	7	140051177	140051177	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140051177C>T	ENST00000326232.9	-	9	981	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E260K|SLC37A3_ENST00000340308.3_Missense_Mutation_p.E260K	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	260					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.E260K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TATTCGTCTTCATTTTCACCA	0.428																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	uc003vvo.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)	3						c.(778-780)GAA>AAA		solute carrier family 37 (glycerol-3-phosphate							169.0	156.0	160.0					7																	140051177		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140051177C>T	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.778G>A	7.37:g.140051177C>T	ENSP00000321498:p.Glu260Lys					SLC37A3_uc003vvp.2_Missense_Mutation_p.E260K|SLC37A3_uc010lnh.2_Missense_Mutation_p.E260K|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	p.E260K	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN			9	944	-	Melanoma(164;0.0142)		260					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.778G>A	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312637|4.312637	0.81358|0.81358	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.18960|.	2.18;2.44;2.44|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.298518|.	0.38272|.	N|.	0.001756|.	T|T	0.66376|0.66376	0.2783|0.2783	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	B;B;B|.	0.23058|.	0.006;0.079;0.015|.	B;B;B|.	0.17433|.	0.007;0.011;0.018|.	T|T	0.61893|0.61893	-0.6969|-0.6969	10|5	0.08599|.	T|.	0.76|.	-38.7391|-38.7391	18.7136|18.7136	0.91667|0.91667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	260;260;260|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	K|I	260|38	ENSP00000343358:E260K;ENSP00000397481:E260K;ENSP00000321498:E260K|.	ENSP00000321498:E260K|.	E|M	-|-	1|3	0|0	SLC37A3|SLC37A3	139697646|139697646	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.642000|0.642000	0.38348|0.38348	5.941000|5.941000	0.70195|0.70195	2.575000|2.575000	0.86900|0.86900	0.563000|0.563000	0.77884|0.77884	GAA|ATG		0.428	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1		NM_032295		10	127	0	0	0	0.00245	0	10	127		
SLC37A3	84255	broad.mit.edu	37	7	140051237	140051237	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140051237C>G	ENST00000326232.9	-	9	921	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E240Q|SLC37A3_ENST00000340308.3_Missense_Mutation_p.E240Q	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	240					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCTTCTGCCTCAATACCCGAG	0.423																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	uc003vvo.2		NaN																	0				ovary(3)	3						c.(718-720)GAG>CAG		solute carrier family 37 (glycerol-3-phosphate							104.0	99.0	101.0					7																	140051237		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140051237C>G	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.718G>C	7.37:g.140051237C>G	ENSP00000321498:p.Glu240Gln					SLC37A3_uc003vvp.2_Missense_Mutation_p.E240Q|SLC37A3_uc010lnh.2_Missense_Mutation_p.E240Q|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	p.E240Q	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN			9	884	-	Melanoma(164;0.0142)		240					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.718G>C	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.02|15.02	2.709233|2.709233	0.48517|0.48517	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000485734	T;T;T|.	0.60672|.	0.17;0.17;0.17|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.294188|.	0.37483|.	N|.	0.002075|.	T|T	0.58366|0.58366	0.2117|0.2117	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	B;P;B|.	0.47106|.	0.003;0.89;0.016|.	B;B;B|.	0.44224|.	0.016;0.444;0.039|.	T|T	0.58509|0.58509	-0.7624|-0.7624	10|6	0.18710|0.42905	T|T	0.47|0.14	-16.906|-16.906	18.4727|18.4727	0.90781|0.90781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	240;240;240|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	Q|F	240|18	ENSP00000343358:E240Q;ENSP00000397481:E240Q;ENSP00000321498:E240Q|.	ENSP00000321498:E240Q|ENSP00000417365:L211F	E|L	-|-	1|3	0|2	SLC37A3|SLC37A3	139697706|139697706	0.959000|0.959000	0.32827|0.32827	0.134000|0.134000	0.22075|0.22075	0.950000|0.950000	0.60333|0.60333	3.767000|3.767000	0.55288|0.55288	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.423	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1		NM_032295		4	82	0	0	0	0.009096	0	4	82		
BRAF	673	broad.mit.edu	37	7	140494157	140494157	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140494157G>A	ENST00000288602.6	-	8	1151	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	364					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGGAGCTGATGAGGATCGGTC	0.408		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0				thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1090-1092)TCA>TTA		B-Raf	Sorafenib(DB00398)						188.0	171.0	176.0					7																	140494157		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140494157G>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1091C>T	7.37:g.140494157G>A	ENSP00000288602:p.Ser364Leu						p.S364L	NM_004333	NP_004324	P15056	BRAF_HUMAN			8	1152	-	Melanoma(164;0.00956)		364					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1091C>T	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662381	0.88251	.	.	ENSG00000157764	ENST00000288602	D	0.89050	-2.46	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	L	0.53249	1.67	0.80722	D	1	P	0.44816	0.844	B	0.36666	0.23	D	0.88725	0.3232	10	0.87932	D	0	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	364	P15056	BRAF_HUMAN	L	364	ENSP00000288602:S364L	ENSP00000288602:S364L	S	-	2	0	BRAF	140140626	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.357000	0.97099	2.706000	0.92434	0.655000	0.94253	TCA		0.408	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1		NM_004333		13	123	0	0	0	0.004007	0	13	123		
KEL	3792	broad.mit.edu	37	7	142636653	142636653	+	IGR	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:142636653G>A	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.E4K	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATGGGGCAGGAGGTGCACGG	0.627																																						uc003wca.2		NaN																	0					0						c.(10-12)GAG>AAG		hypothetical protein LOC135927							45.0	54.0	51.0					7																	142636653		692	1591	2283	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142636653G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636653G>A							p.E4K	NM_178829	NP_849151	Q96L11	CG034_HUMAN			1	51	+	Melanoma(164;0.059)		Error:Variant_position_missing_in_Q96L11_after_alignment					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.10G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	g	14.09	2.430571	0.43122	.	.	ENSG00000165131	ENST00000409607	.	.	.	2.37	1.47	0.22746	.	.	.	.	.	T	0.39091	0.1065	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36212	-0.9757	5	0.87932	D	0	.	5.1254	0.14882	0.1724:0.0:0.8276:0.0	.	.	.	.	K	4	.	ENSP00000386450:E4K	E	+	1	0	C7orf34	142346775	0.022000	0.18835	0.001000	0.08648	0.019000	0.09904	0.892000	0.28322	0.579000	0.29504	0.550000	0.68814	GAG		0.627	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2		NM_000420		5	36	0	0	0	0.001984	0	5	36		
FASTK	10922	broad.mit.edu	37	7	150777000	150777000	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:150777000G>A	ENST00000297532.6	-	2	169	c.92C>T	c.(91-93)tCa>tTa	p.S31L	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000540185.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.S31L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	31					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGAGTTGGGTGATGGAGACCC	0.582																																						uc003wix.1		NaN																	0				lung(2)|stomach(2)	4						c.(91-93)TCA>TTA		Fas-activated serine/threonine kinase isoform 1							35.0	25.0	28.0					7																	150777000		2193	4297	6490	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150777000G>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.92C>T	7.37:g.150777000G>A	ENSP00000297532:p.Ser31Leu					FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.S31L|FASTK_uc003wja.1_5'UTR	p.S31L	NM_006712	NP_006703	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	2	190	-			31					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.92C>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405960	0.62288	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000297532;ENST00000482571	T;T	0.34667	1.81;1.35	4.64	3.75	0.43078	.	0.773252	0.10976	N	0.613253	T	0.19005	0.0456	N	0.08118	0	0.80722	D	1	B;B	0.31548	0.328;0.001	B;B	0.24394	0.053;0.002	T	0.10520	-1.0626	10	0.72032	D	0.01	-9.2255	9.7419	0.40424	0.0987:0.0:0.9013:0.0	.	31;31	F8VTW9;Q14296	.;FASTK_HUMAN	L	31	ENSP00000297532:S31L;ENSP00000418516:S31L	ENSP00000297530:S31L	S	-	2	0	FASTK	150407933	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.161000	0.50747	2.512000	0.84698	0.655000	0.94253	TCA		0.582	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2		NM_006712		5	9	0	0	0	0.001168	0	5	9		
RHEB	6009	broad.mit.edu	37	7	151188091	151188091	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:151188091G>A	ENST00000262187.5	-	2	474	c.62C>T	c.(61-63)tCa>tTa	p.S21L	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	21					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AATCGTCAATGAGGATTTCCC	0.323																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	uc003wkh.1		NaN																	0				large_intestine(1)|lung(1)	2						c.(61-63)TCA>TTA		Ras homolog enriched in brain precursor							88.0	86.0	87.0					7																	151188091		2203	4300	6503	SO:0001583	missense	6009				cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	g.chr7:151188091G>A	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.62C>T	7.37:g.151188091G>A	ENSP00000262187:p.Ser21Leu						p.S21L	NM_005614	NP_005605	Q15382	RHEB_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)	2	475	-			21			GTP.		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	c.62C>T	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503213	0.85176	.	.	ENSG00000106615	ENST00000262187	D	0.83335	-1.71	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94165	0.8128	H	0.98276	4.19	0.80722	D	1	D	0.65815	0.995	P	0.60682	0.878	D	0.96285	0.9209	10	0.87932	D	0	.	16.6965	0.85337	0.0:0.0:1.0:0.0	.	21	Q15382	RHEB_HUMAN	L	21	ENSP00000262187:S21L	ENSP00000262187:S21L	S	-	2	0	RHEB	150819024	1.000000	0.71417	0.999000	0.59377	0.412000	0.31113	8.660000	0.91121	2.537000	0.85549	0.655000	0.94253	TCA		0.323	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2		NM_005614		4	69	0	0	0	0.009096	0	4	69		
LZTS1	11178	broad.mit.edu	37	8	20110556	20110556	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:20110556C>T	ENST00000381569.1	-	3	1243	c.886G>A	c.(886-888)Gag>Aag	p.E296K	LZTS1_ENST00000522290.1_Missense_Mutation_p.E296K|LZTS1_ENST00000265801.6_Missense_Mutation_p.E296K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	296					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCCGCTCCTCGTAGGCCAGG	0.677																																						uc003wzr.2		NaN																	0				ovary(1)	1						c.(886-888)GAG>AAG		leucine zipper, putative tumor suppressor 1							29.0	29.0	29.0					8																	20110556		2199	4289	6488	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110556C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.886G>A	8.37:g.20110556C>T	ENSP00000370981:p.Glu296Lys					LZTS1_uc010ltg.1_Missense_Mutation_p.E296K	p.E296K	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	997	-			296			Potential.		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.886G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410577	0.83340	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.46819	1.38;1.38;0.86	5.52	5.52	0.82312	.	0.046152	0.85682	D	0.000000	T	0.72120	0.3421	M	0.83774	2.66	0.48395	D	0.999643	D;P	0.89917	1.0;0.727	D;B	0.79784	0.993;0.129	T	0.75260	-0.3380	10	0.59425	D	0.04	-36.1851	17.9799	0.89138	0.0:1.0:0.0:0.0	.	296;296	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	K	296	ENSP00000370981:E296K;ENSP00000265801:E296K;ENSP00000429263:E296K	ENSP00000265801:E296K	E	-	1	0	LZTS1	20154836	1.000000	0.71417	0.870000	0.34147	0.823000	0.46562	4.903000	0.63272	2.594000	0.87642	0.561000	0.74099	GAG		0.677	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1		NM_021020		5	47	0	0	0	0.001984	0	5	47		
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	G	A	rs150229714		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:24776021G>A	ENST00000221166.5	+	3	3435	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E846K|NEFM_ENST00000433454.2_Missense_Mutation_p.E509K|NEFM_ENST00000518131.1_Missense_Mutation_p.E667K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	885	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGGTTGAAGAGCATGAAGA	0.428																																						uc003xed.3		NaN																	0				breast(1)	1						c.(2653-2655)GAG>AAG		neurofilament, medium polypeptide 150kDa isoform		G	LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	102.0	103.0	103.0		1525,2653	3.2	1.0	8	dbSNP_134	103	0,8600		0,0,4300	no	missense,missense	NEFM	NM_001105541.1,NM_005382.2	56,56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	509/541,885/917	24776021	2,13004	2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24776021G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2653G>A	8.37:g.24776021G>A	ENSP00000221166:p.Glu885Lys					NEFM_uc011lac.1_Missense_Mutation_p.E667K|NEFM_uc010lue.2_Missense_Mutation_p.E509K	p.E885K	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2686	+		Prostate(55;0.157)	885			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2653G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430090	0.43122	4.54E-4	0.0	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.98329	-3.68;-3.22;-3.46;-4.87	5.0	3.2	0.36748	.	0.000000	0.45361	D	0.000371	D	0.95856	0.8651	L	0.55834	1.745	0.58432	D	0.999997	B;B	0.32653	0.041;0.379	B;B	0.26517	0.033;0.07	D	0.93250	0.6634	10	0.87932	D	0	.	10.4869	0.44729	0.0735:0.1341:0.7925:0.0	.	667;885	E7EMV2;P07197	.;NFM_HUMAN	K	885;667;846;509	ENSP00000221166:E885K;ENSP00000427872:E667K;ENSP00000410137:E846K;ENSP00000412295:E509K	ENSP00000221166:E885K	E	+	1	0	NEFM	24831926	1.000000	0.71417	0.999000	0.59377	0.634000	0.38068	6.254000	0.72460	0.522000	0.28464	-0.373000	0.07131	GAG		0.428	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2		NM_005382		7	140	0	0	0	0.006214	0	7	140		
GNRH1	2796	broad.mit.edu	37	8	25280738	25280738	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:25280738C>T	ENST00000276414.4	-	1	1432	c.109G>A	c.(109-111)Gat>Aat	p.D37N	RP11-395I14.2_ENST00000523840.1_lincRNA|GNRH1_ENST00000421054.2_Missense_Mutation_p.D37N	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	37					cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179)			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		TTTTCGGCATCTCTCTTTCCT	0.408																																						uc003xem.3		NaN																	0				large_intestine(1)	1						c.(109-111)GAT>AAT		gonadotropin-releasing hormone 1 precursor							107.0	108.0	108.0					8																	25280738		1860	4100	5960	SO:0001583	missense	2796				cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity	g.chr8:25280738C>T	X01059	CCDS43725.1	8p21-p11.2	2013-02-26	2004-10-13		ENSG00000147437	ENSG00000147437		"""Endogenous ligands"""	4419	protein-coding gene	gene with protein product		152760	"""gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)"""	GRH, GNRH, LHRH		6090951	Standard	NM_000825		Approved		uc003xem.4	P01148	OTTHUMG00000163852	ENST00000276414.4:c.109G>A	8.37:g.25280738C>T	ENSP00000276414:p.Asp37Asn					PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Missense_Mutation_p.D37N	p.D37N	NM_001083111	NP_001076580	P01148	GON1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)	2	950	-		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)	37					A0AVP0	Missense_Mutation	SNP	ENST00000276414.4	37	c.109G>A	CCDS43725.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.464280	0.01053	.	.	ENSG00000147437	ENST00000421054;ENST00000276414	T;T	0.44881	0.91;0.91	5.38	1.71	0.24356	.	0.384298	0.27019	N	0.021321	T	0.14227	0.0344	.	.	.	0.28502	N	0.913952	B	0.02656	0.0	B	0.01281	0.0	T	0.28490	-1.0042	9	0.02654	T	1	-13.9881	3.993	0.09545	0.1519:0.2482:0.0:0.5999	.	37	P01148	GON1_HUMAN	N	37	ENSP00000391280:D37N;ENSP00000276414:D37N	ENSP00000276414:D37N	D	-	1	0	GNRH1	25336655	0.992000	0.36948	0.542000	0.28115	0.000000	0.00434	1.546000	0.36179	0.479000	0.27511	-1.292000	0.01352	GAT		0.408	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375982.1		NM_001083111		11	142	0	0	0	0.001855	0	11	142		
KIF13B	23303	broad.mit.edu	37	8	28974498	28974498	+	Silent	SNP	G	G	A	rs564251220		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:28974498G>A	ENST00000524189.1	-	31	3725	c.3687C>T	c.(3685-3687)tcC>tcT	p.S1229S	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1229					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CATGCACCGCGGAGTCCCAGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18975	0.0		0.001	False		,,,				2504	0.0					uc003xhh.3		NaN																	0					0						c.(3685-3687)TCC>TCT		kinesin family member 13B							55.0	58.0	57.0					8																	28974498		1950	4148	6098	SO:0001819	synonymous_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28974498G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3687C>T	8.37:g.28974498G>A						uc003xhi.1_Intron	p.S1229S	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	31	3746	-		Ovarian(32;0.000536)	1229					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	c.3687C>T	CCDS55217.1																																																																																				0.577	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1				5	101	0	0	0	0.001168	0	5	101		
CHD7	55636	broad.mit.edu	37	8	61735145	61735145	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:61735145G>A	ENST00000423902.2	+	12	3520	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	CHD7_ENST00000525508.1_Missense_Mutation_p.G1014E|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1014	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATTTGAAAGGAATCCATGGC	0.408																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(3040-3042)GGA>GAA		chromodomain helicase DNA binding protein 7							158.0	154.0	155.0					8																	61735145		1832	4082	5914	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735145G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3041G>A	8.37:g.61735145G>A	ENSP00000392028:p.Gly1014Glu					CHD7_uc003xuf.2_Missense_Mutation_p.G127E	p.G1014E	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3518	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1014			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3041G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318450	0.81469	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.94650	-3.48;-3.48	5.53	5.53	0.82687	DEAD-like helicase (2);SNF2-related (1);	0.064498	0.64402	D	0.000009	D	0.96374	0.8817	L	0.45744	1.44	0.80722	D	1	P;P	0.45594	0.761;0.862	B;D	0.67231	0.258;0.95	D	0.96522	0.9386	10	0.87932	D	0	-18.821	19.8195	0.96586	0.0:0.0:1.0:0.0	.	1014;1014	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	E	1014	ENSP00000392028:G1014E;ENSP00000436027:G1014E	ENSP00000307304:G1014E	G	+	2	0	CHD7	61897699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.914000	0.87478	2.756000	0.94617	0.655000	0.94253	GGA		0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		15	223	0	0	0	0.006122	0	15	223		
CHD7	55636	broad.mit.edu	37	8	61749458	61749458	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:61749458G>A	ENST00000423902.2	+	17	4551	c.4072G>A	c.(4072-4074)Gat>Aat	p.D1358N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1358	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCTGATTCTGATAGGTTTGT	0.483																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4072-4074)GAT>AAT		chromodomain helicase DNA binding protein 7							154.0	154.0	154.0					8																	61749458		2048	4206	6254	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61749458G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4072G>A	8.37:g.61749458G>A	ENSP00000392028:p.Asp1358Asn						p.D1358N	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		17	4549	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1358			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4072G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833682	0.97003	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.76316	-1.01	5.79	5.79	0.91817	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	N	0.25485	0.75	0.80722	D	1	D	0.64830	0.994	D	0.67900	0.954	D	0.84121	0.0406	10	0.87932	D	0	-21.2102	20.0411	0.97590	0.0:0.0:1.0:0.0	.	1358	Q9P2D1	CHD7_HUMAN	N	1358	ENSP00000392028:D1358N	ENSP00000307304:D1358N	D	+	1	0	CHD7	61912012	1.000000	0.71417	0.981000	0.43875	0.954000	0.61252	9.869000	0.99810	2.739000	0.93911	0.655000	0.94253	GAT		0.483	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		53	198	0	0	0	0.00361	0	53	198		
TRIM55	84675	broad.mit.edu	37	8	67040613	67040613	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:67040613T>C	ENST00000315962.4	+	2	616	c.243T>C	c.(241-243)tgT>tgC	p.C81C	TRIM55_ENST00000276573.7_Silent_p.C81C|TRIM55_ENST00000350034.4_Silent_p.C81C|TRIM55_ENST00000353317.5_Silent_p.C81C	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	81					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GCCCATCCTGTAGACATGAAG	0.498																																						uc003xvv.2		NaN																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(241-243)TGT>TGC		tripartite motif-containing 55 isoform 1							154.0	154.0	154.0					8																	67040613		2203	4300	6503	SO:0001819	synonymous_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040613T>C	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.243T>C	8.37:g.67040613T>C						TRIM55_uc003xvu.2_Silent_p.C81C|TRIM55_uc003xvw.2_Silent_p.C81C|TRIM55_uc003xvx.2_Silent_p.C81C	p.C81C	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	469	+		Lung NSC(129;0.138)|all_lung(136;0.221)	81					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	c.243T>C	CCDS6184.1																																																																																				0.498	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1		NM_184085		61	197	0	0	0	0.00361	0	61	197		
SLCO5A1	81796	broad.mit.edu	37	8	70744345	70744345	+	Silent	SNP	G	G	A	rs200066398	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:70744345G>A	ENST00000260126.4	-	2	1270	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SLCO5A1_ENST00000530307.1_Silent_p.F188F|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000524945.1_Silent_p.F188F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGGCCGCCGAAGTAGCTGA	0.642													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15703	0.0		0.0	False		,,,				2504	0.0					uc003xyl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(562-564)TTC>TTT		solute carrier organic anion transporter family,							31.0	37.0	35.0					8																	70744345		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744345G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.564C>T	8.37:g.70744345G>A						SLCO5A1_uc010lzb.2_Silent_p.F188F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.F188F|SLCO5A1_uc010lzc.2_Silent_p.F188F	p.F188F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1271	-	Breast(64;0.0654)		188			Helical; Name=2; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.564C>T	CCDS6205.1																																																																																				0.642	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3		NM_030958		4	76	0	0	0	0.001168	0	4	76		
NBN	4683	broad.mit.edu	37	8	90990452	90990452	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:90990452C>T	ENST00000265433.3	-	5	734	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	NBN_ENST00000409330.1_Missense_Mutation_p.E112K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	194	Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATATACCTTTCAATTTGTGGA	0.323								Homologous recombination																														uc003yej.1		NaN																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(580-582)GAA>AAA	Direct_reversal_of_damage|Homologous_recombination	nibrin							64.0	65.0	65.0					8																	90990452		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90990452C>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.580G>A	8.37:g.90990452C>T	ENSP00000265433:p.Glu194Lys					NBN_uc003yei.1_Missense_Mutation_p.E112K|NBN_uc011lgb.1_Missense_Mutation_p.E194K	p.E194K	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		5	690	-			194					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.580G>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795616	0.90453	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000517772	T;T;T	0.72835	0.0;0.01;-0.69	5.96	5.96	0.96718	.	0.140827	0.64402	D	0.000005	T	0.78898	0.4356	M	0.69358	2.11	0.53688	D	0.99997	D;D	0.64830	0.994;0.994	P;P	0.56700	0.804;0.804	T	0.80384	-0.1405	10	0.72032	D	0.01	.	13.5822	0.61909	0.0:0.9293:0.0:0.0707	.	194;194	A6H8Y5;O60934	.;NBN_HUMAN	K	194;112;194;112	ENSP00000265433:E194K;ENSP00000386924:E112K;ENSP00000428717:E112K	ENSP00000265433:E194K	E	-	1	0	NBN	91059628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.237000	0.51344	2.826000	0.97356	0.655000	0.94253	GAA		0.323	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		NM_001024688		5	71	0	0	0	0.000602	0	5	71		
NBN	4683	broad.mit.edu	37	8	90993657	90993657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:90993657C>T	ENST00000265433.3	-	3	420	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	NBN_ENST00000409330.1_Missense_Mutation_p.R7Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	89					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCAAAGTTCGGGAAAAGCC	0.333								Homologous recombination																														uc003yej.1		NaN																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(265-267)CGA>CAA	Direct_reversal_of_damage|Homologous_recombination	nibrin							94.0	105.0	102.0					8																	90993657		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90993657C>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.266G>A	8.37:g.90993657C>T	ENSP00000265433:p.Arg89Gln					NBN_uc003yei.1_Missense_Mutation_p.R7Q|NBN_uc011lgb.1_Missense_Mutation_p.R89Q	p.R89Q	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		3	376	-			89					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.266G>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	7.639	0.680501	0.14907	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000519426;ENST00000517772;ENST00000517337	D;T;D;T;T	0.86432	-2.12;0.21;-2.12;-0.57;-0.52	5.71	-11.4	0.00090	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.867948	0.10209	N	0.702330	T	0.72787	0.3504	N	0.25060	0.705	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.17098	0.017;0.017	T	0.58645	-0.7600	10	0.32370	T	0.25	5.2617	11.3144	0.49383	0.2774:0.5715:0.0616:0.0895	.	89;89	A6H8Y5;O60934	.;NBN_HUMAN	Q	89;7;89;89;7;7	ENSP00000265433:R89Q;ENSP00000386924:R7Q;ENSP00000430983:R89Q;ENSP00000428717:R7Q;ENSP00000429971:R7Q	ENSP00000265433:R89Q	R	-	2	0	NBN	91062833	0.000000	0.05858	0.000000	0.03702	0.808000	0.45660	-2.320000	0.01119	-4.323000	0.00056	-0.444000	0.05651	CGA		0.333	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		NM_001024688		8	173	0	0	0	0.004482	0	8	173		
SLC26A7	115111	broad.mit.edu	37	8	92374633	92374633	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:92374633G>C	ENST00000276609.3	+	12	1606	c.1367G>C	c.(1366-1368)gGa>gCa	p.G456A	SLC26A7_ENST00000523719.1_Missense_Mutation_p.G456A|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G456A	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCCAATGTGGGACTGCTGTTT	0.393																																						uc003yex.2		NaN																	0				ovary(2)	2						c.(1366-1368)GGA>GCA		solute carrier family 26, member 7 isoform a							355.0	300.0	318.0					8																	92374633		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92374633G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1367G>C	8.37:g.92374633G>C	ENSP00000276609:p.Gly456Ala					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.G456A|SLC26A7_uc003yfa.2_Missense_Mutation_p.G456A	p.G456A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		13	1645	+			456			Helical; (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.1367G>C	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505572	0.85282	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.97850	-4.57;-4.57;-4.57	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	D	0.97714	0.9250	L	0.27053	0.805	0.47905	D	0.999543	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.99312	1.0904	10	0.87932	D	0	.	19.7159	0.96121	0.0:0.0:1.0:0.0	.	456;456	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	A	456	ENSP00000428849:G456A;ENSP00000276609:G456A;ENSP00000309504:G456A	ENSP00000276609:G456A	G	+	2	0	SLC26A7	92443809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.331000	0.72929	2.758000	0.94735	0.655000	0.94253	GGA		0.393	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1				27	302	0	0	0	0.003755	0	27	302		
ESRP1	54845	broad.mit.edu	37	8	95658419	95658419	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:95658419C>A	ENST00000433389.2	+	4	589	c.399C>A	c.(397-399)ttC>ttA	p.F133L	ESRP1_ENST00000454170.2_Missense_Mutation_p.F133L|ESRP1_ENST00000423620.2_Missense_Mutation_p.F133L|ESRP1_ENST00000358397.5_Missense_Mutation_p.F133L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	133					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGAATGCTTCTATTCCTTTT	0.363																																						uc003ygq.3		NaN																ESRP1/RAF1(4)	0				prostate(4)	4						c.(397-399)TTC>TTA		RNA binding motif protein 35A isoform 1							149.0	141.0	143.0					8																	95658419		1866	4091	5957	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95658419C>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.399C>A	8.37:g.95658419C>A	ENSP00000405738:p.Phe133Leu					ESRP1_uc003ygr.3_Missense_Mutation_p.F133L|ESRP1_uc003ygs.3_Missense_Mutation_p.F133L|ESRP1_uc003ygt.3_Missense_Mutation_p.F133L|ESRP1_uc003ygu.3_Missense_Mutation_p.F133L|ESRP1_uc003ygv.2_5'UTR|ESRP1_uc003ygw.2_5'UTR	p.F133L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			4	582	+			133					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.399C>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529709	0.85706	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.45	5.45	0.79879	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	L	0.48986	1.54	0.80722	D	1	D;P;P;D;D	0.64830	0.994;0.712;0.855;0.959;0.99	D;P;B;P;P	0.66716	0.946;0.45;0.348;0.749;0.885	T	0.56685	-0.7938	10	0.44086	T	0.13	-11.0231	19.2726	0.94016	0.0:1.0:0.0:0.0	.	133;133;133;133;133	Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;ESRP1_HUMAN	L	133	ENSP00000407349:F133L;ENSP00000405738:F133L;ENSP00000351168:F133L;ENSP00000402766:F133L	ENSP00000351168:F133L	F	+	3	2	ESRP1	95727595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.542000	0.85734	0.655000	0.94253	TTC		0.363	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1		NM_017697		7	119	1	0	0.000157383	0.00308	0.000163955	7	119		
MTDH	92140	broad.mit.edu	37	8	98718973	98718973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:98718973C>T	ENST00000336273.3	+	8	1595	c.1267C>T	c.(1267-1269)Caa>Taa	p.Q423*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.Q367*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	423	Lung-homing for mammary tumors. {ECO:0000250}.				lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCCTGATGATCAAAAGGTGAG	0.463																																						uc003yhz.2		NaN																	0				liver(1)|central_nervous_system(1)	2						c.(1267-1269)CAA>TAA		metadherin							113.0	119.0	117.0					8																	98718973		2203	4300	6503	SO:0001587	stop_gained	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98718973C>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1267C>T	8.37:g.98718973C>T	ENSP00000338235:p.Gln423*					MTDH_uc010mbf.2_RNA	p.Q423*	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		8	1595	+	Breast(36;2.56e-06)		423			Lung-homing for mammary tumors (By similarity).|Cytoplasmic (Potential).		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Nonsense_Mutation	SNP	ENST00000336273.3	37	c.1267C>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200535	0.94997	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	.	.	.	5.17	3.28	0.37604	.	0.496937	0.23112	N	0.051787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3944	10.6334	0.45549	0.1493:0.7071:0.1436:0.0	.	.	.	.	X	423;367;93	.	ENSP00000338235:Q423X	Q	+	1	0	MTDH	98788149	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.780000	0.47742	0.764000	0.33197	0.655000	0.94253	CAA		0.463	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2				8	209	0	0	0	0.004482	0	8	209		
LRP12	29967	broad.mit.edu	37	8	105511661	105511661	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:105511661C>T	ENST00000276654.5	-	4	467	c.359G>A	c.(358-360)aGa>aAa	p.R120K	LRP12_ENST00000424843.2_Missense_Mutation_p.R101K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	120	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCACAAGCTCTGTAACTTTC	0.373																																						uc003yma.2		NaN																	0					0						c.(358-360)AGA>AAA		low density lipoprotein-related protein 12							158.0	153.0	155.0					8																	105511661		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105511661C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.359G>A	8.37:g.105511661C>T	ENSP00000276654:p.Arg120Lys					LRP12_uc003ymb.2_Missense_Mutation_p.R101K	p.R120K	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	454	-			120			Extracellular (Potential).|CUB 1.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.359G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214877	0.95104	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.17054	2.3;2.3	5.81	5.81	0.92471	CUB (5);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	N	0.25245	0.725	0.80722	D	1	D;D	0.57257	0.974;0.979	D;D	0.74023	0.969;0.982	T	0.03212	-1.1060	10	0.11794	T	0.64	-23.6454	20.089	0.97809	0.0:1.0:0.0:0.0	.	101;120	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	101;120;120	ENSP00000399148:R101K;ENSP00000276654:R120K	ENSP00000276654:R120K	R	-	2	0	LRP12	105580837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.343000	0.65976	2.752000	0.94435	0.557000	0.71058	AGA		0.373	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1		NM_013437		7	102	0	0	0	0.001984	0	7	102		
PKHD1L1	93035	broad.mit.edu	37	8	110487424	110487424	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:110487424C>T	ENST00000378402.5	+	51	8787	c.8683C>T	c.(8683-8685)Cac>Tac	p.H2895Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2895					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATGCAAATCACATTAACTG	0.338										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8683-8685)CAC>TAC		fibrocystin L precursor							107.0	103.0	104.0					8																	110487424		1890	4134	6024	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110487424C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8683C>T	8.37:g.110487424C>T	ENSP00000367655:p.His2895Tyr	HNSCC(38;0.096)					p.H2895Y	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		51	8787	+			2895			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8683C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834566	0.32421	.	.	ENSG00000205038	ENST00000378402	D	0.85258	-1.96	5.69	4.76	0.60689	.	0.138301	0.49305	D	0.000141	T	0.77968	0.4210	L	0.29908	0.895	0.21967	N	0.999445	P	0.37176	0.586	B	0.40329	0.326	T	0.72121	-0.4386	10	0.59425	D	0.04	.	8.8344	0.35104	0.1674:0.671:0.1616:0.0	.	2895	Q86WI1	PKHL1_HUMAN	Y	2895	ENSP00000367655:H2895Y	ENSP00000367655:H2895Y	H	+	1	0	PKHD1L1	110556600	0.999000	0.42202	0.991000	0.47740	0.862000	0.49288	3.735000	0.55044	2.671000	0.90904	0.655000	0.94253	CAC		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		23	35	0	0	0	0.004656	0	23	35		
PKHD1L1	93035	broad.mit.edu	37	8	110495274	110495274	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:110495274C>G	ENST00000378402.5	+	57	9620	c.9516C>G	c.(9514-9516)ctC>ctG	p.L3172L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3172	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACTAAGCTCTCAGAAACTG	0.388										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9514-9516)CTC>CTG		fibrocystin L precursor							128.0	125.0	126.0					8																	110495274		1859	4093	5952	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110495274C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9516C>G	8.37:g.110495274C>G		HNSCC(38;0.096)					p.L3172L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		57	9620	+			3172			Extracellular (Potential).|G8 2.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.9516C>G	CCDS47911.1																																																																																				0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		5	38	0	0	0	0.001984	0	5	38		
CSMD3	114788	broad.mit.edu	37	8	114326926	114326926	+	Missense_Mutation	SNP	G	G	T	rs111400281		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:114326926G>T	ENST00000297405.5	-	2	519	c.275C>A	c.(274-276)aCa>aAa	p.T92K	CSMD3_ENST00000352409.3_Missense_Mutation_p.T92K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T52K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T92K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	92	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATTACCCATGTGCAGTTTGC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(274-276)ACA>AAA		CUB and Sushi multiple domains 3 isoform 1							166.0	161.0	162.0					8																	114326926		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326926G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.275C>A	8.37:g.114326926G>T	ENSP00000297405:p.Thr92Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.T52K|CSMD3_uc011lhx.1_Missense_Mutation_p.T92K|CSMD3_uc010mcx.1_Missense_Mutation_p.T92K|CSMD3_uc003ynx.3_Missense_Mutation_p.T92K	p.T92K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	434	-			92			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.275C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234986	0.58886	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000007	T	0.58722	0.2142	M	0.78801	2.425	0.38727	D	0.953584	P;D;D;D;P	0.89917	0.884;0.998;1.0;0.991;0.538	B;D;D;D;P	0.78314	0.426;0.948;0.988;0.991;0.575	T	0.59726	-0.7400	10	0.42905	T	0.14	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	92;92;92;92;52	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	K	52;92;92;92	ENSP00000345799:T52K;ENSP00000297405:T92K;ENSP00000412263:T92K;ENSP00000343124:T92K	ENSP00000297405:T92K	T	-	2	0	CSMD3	114396102	1.000000	0.71417	0.996000	0.52242	0.830000	0.47004	9.859000	0.99545	2.697000	0.92050	0.557000	0.71058	ACA		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		11	150	1	0	4.68919e-08	0.008291	5.06473e-08	11	150		
AGO2	27161	broad.mit.edu	37	8	141549523	141549523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:141549523C>A	ENST00000220592.5	-	16	2177	c.2065G>T	c.(2065-2067)Gag>Tag	p.E689*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.E689*	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	689	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										ATACAGGCCTCACGGATGGCC	0.567																																						uc003yvn.2		NaN																	0					0						c.(2065-2067)GAG>TAG		argonaute 2 isoform 1							94.0	83.0	86.0					8																	141549523		2203	4300	6503	SO:0001587	stop_gained	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141549523C>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2065G>T	8.37:g.141549523C>A	ENSP00000220592:p.Glu689*					EIF2C2_uc010men.2_Nonsense_Mutation_p.E612*|EIF2C2_uc010meo.2_Nonsense_Mutation_p.E689*	p.E689*	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		16	2105	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	689			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Nonsense_Mutation	SNP	ENST00000220592.5	37	c.2065G>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	41	9.118987	0.99071	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.9967	18.8564	0.92254	0.0:1.0:0.0:0.0	.	.	.	.	X	689	.	ENSP00000220592:E689X	E	-	1	0	EIF2C2	141618705	1.000000	0.71417	0.951000	0.38953	0.913000	0.54294	6.032000	0.70918	2.512000	0.84698	0.655000	0.94253	GAG		0.567	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4				6	111	1	0	2.17888e-05	0.006214	2.30841e-05	6	111		
PLGRKT	55848	broad.mit.edu	37	9	5358254	5358254	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:5358254G>C	ENST00000223864.2	-	6	650	c.429C>G	c.(427-429)ttC>ttG	p.F143L		NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	143					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											TGTCTATGAAGAATCTACTCT	0.338																																						uc003zjc.2		NaN																	0				ovary(1)	1						c.(427-429)TTC>TTG		hypothetical protein LOC55848							141.0	131.0	134.0					9																	5358254		2203	4300	6503	SO:0001583	missense	55848					integral to membrane		g.chr9:5358254G>C	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.429C>G	9.37:g.5358254G>C	ENSP00000223864:p.Phe143Leu					C9orf46_uc003zjd.2_Missense_Mutation_p.F143L	p.F143L	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)	6	633	-	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	143					B2R6W0|Q9NZ44	Missense_Mutation	SNP	ENST00000223864.2	37	c.429C>G	CCDS6463.1	.	.	.	.	.	.	.	.	.	.	G	7.175	0.588486	0.13812	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.05	1.19	0.21007	.	0.234361	0.41396	N	0.000895	T	0.12902	0.0313	N	0.11651	0.15	0.24944	N	0.991834	B	0.06786	0.001	B	0.04013	0.001	T	0.32107	-0.9919	9	0.02654	T	1	.	4.6986	0.12816	0.3829:0.0:0.4788:0.1383	.	143	Q9HBL7	CI046_HUMAN	L	143	.	ENSP00000223864:F143L	F	-	3	2	C9orf46	5348254	1.000000	0.71417	0.990000	0.47175	0.798000	0.45092	0.472000	0.22116	-0.049000	0.13379	0.557000	0.71058	TTC		0.338	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1		NM_018465		6	112	0	0	0	0.004482	0	6	112		
CNTLN	54875	broad.mit.edu	37	9	17457539	17457539	+	Silent	SNP	G	G	A	rs576760955		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:17457539G>A	ENST00000380647.3	+	19	3216	c.3132G>A	c.(3130-3132)ttG>ttA	p.L1044L	CNTLN_ENST00000262360.5_Silent_p.L1044L|CNTLN_ENST00000425824.1_Silent_p.L1044L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1044					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)		ATTTGGATTTGGCTGGGCTTC	0.269																																						uc003zmz.2		NaN																	0				pancreas(1)	1						c.(3127-3129)TTG>TTA		centlein isoform 1							49.0	48.0	48.0					9																	17457539		1774	4056	5830	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17457539G>A	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.3132G>A	9.37:g.17457539G>A						CNTLN_uc003zmy.2_Silent_p.L1044L|CNTLN_uc010mio.2_Silent_p.L723L	p.L1043L	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	19	3155	+			1044			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.3129G>A	CCDS43789.1																																																																																				0.269	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738		4	62	0	0	0	0.000602	0	4	62		
ADAMTSL1	92949	broad.mit.edu	37	9	18776929	18776929	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:18776929C>T	ENST00000380548.4	+	19	3041	c.2702C>T	c.(2701-2703)gCg>gTg	p.A901V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	901	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTGCCCGGCGCGCAGGGTC	0.652																																						uc003zne.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2701-2703)GCG>GTG		ADAMTS-like 1 isoform 4 precursor							24.0	30.0	28.0					9																	18776929		2053	4188	6241	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18776929C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2702C>T	9.37:g.18776929C>T	ENSP00000369921:p.Ala901Val						p.A901V	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	2829	+			901			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2702C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	2.037	-0.421047	0.04734	.	.	ENSG00000178031	ENST00000380548	T	0.14144	2.53	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.027180	0.07968	U	0.983465	T	0.07369	0.0186	N	0.11023	0.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12167	-1.0558	10	0.02654	T	1	.	9.9236	0.41478	0.0:0.8494:0.0:0.1506	.	901	Q8N6G6	ATL1_HUMAN	V	901	ENSP00000369921:A901V	ENSP00000369921:A901V	A	+	2	0	ADAMTSL1	18766929	0.951000	0.32395	1.000000	0.80357	0.505000	0.33919	3.604000	0.54081	2.563000	0.86464	0.563000	0.77884	GCG		0.652	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1				4	39	0	0	0	0.009096	0	4	39		
DDX58	23586	broad.mit.edu	37	9	32500809	32500809	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:32500809G>A	ENST00000379883.2	-	2	392	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379882.1_Intron	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	79	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TAACCTGCATGGTCTAGGGCA	0.418																																						uc003zra.2		NaN																	0				ovary(2)|liver(1)|pancreas(1)	4						c.(235-237)CAT>TAT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							88.0	93.0	91.0					9																	32500809		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32500809G>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.235C>T	9.37:g.32500809G>A	ENSP00000369213:p.His79Tyr					DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_5'UTR	p.H79Y	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	2	393	-			79			CARD 1.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.235C>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	8.133	0.783608	0.16189	.	.	ENSG00000107201	ENST00000379883;ENST00000542960	T	0.05139	3.49	4.42	2.37	0.29283	.	1.303690	0.05300	N	0.522829	T	0.08403	0.0209	L	0.57536	1.79	0.09310	N	0.999993	B	0.33238	0.403	B	0.28139	0.086	T	0.34378	-0.9831	10	0.45353	T	0.12	-0.0041	6.7787	0.23634	0.0:0.1977:0.598:0.2043	.	79	O95786	DDX58_HUMAN	Y	79	ENSP00000369213:H79Y	ENSP00000369213:H79Y	H	-	1	0	DDX58	32490809	0.003000	0.15002	0.007000	0.13788	0.843000	0.47879	0.982000	0.29539	1.183000	0.42943	0.655000	0.94253	CAT		0.418	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1		NM_014314		6	114	0	0	0	0.001984	0	6	114		
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:86004545G>A	ENST00000304195.3	-	2	432	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRMD3_ENST00000376438.1_Missense_Mutation_p.R76C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	76	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCCACATAGCGAATGCCAAAG	0.498																																						uc004ams.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(226-228)CGC>TGC		FERM domain containing 3							126.0	122.0	123.0					9																	86004545		1966	4154	6120	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:86004545G>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.226C>T	9.37:g.86004545G>A	ENSP00000303508:p.Arg76Cys					FRMD3_uc004amr.1_Missense_Mutation_p.R62C	p.R76C	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			2	428	-			76			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.226C>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144053	0.77888	.	.	ENSG00000172159	ENST00000376438;ENST00000304195	T;T	0.77620	-1.11;-1.11	5.59	5.59	0.84812	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.88603	0.6481	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.89356	0.3664	10	0.72032	D	0.01	.	18.3478	0.90328	0.0:0.0:1.0:0.0	.	76;76	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	C	76	ENSP00000365621:R76C;ENSP00000303508:R76C	ENSP00000303508:R76C	R	-	1	0	FRMD3	85194365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.252000	0.51461	2.646000	0.89796	0.655000	0.94253	CGC		0.498	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1		NM_174938		5	95	0	0	0	0.00308	0	5	95		
NTRK2	4915	broad.mit.edu	37	9	87338522	87338522	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:87338522C>T	ENST00000323115.4	+	6	971	c.618C>T	c.(616-618)ctC>ctT	p.L206L	NTRK2_ENST00000376214.1_Silent_p.L206L|NTRK2_ENST00000395882.1_Silent_p.L206L|NTRK2_ENST00000376208.1_Silent_p.L206L|NTRK2_ENST00000304053.6_Silent_p.L206L|NTRK2_ENST00000395866.2_Silent_p.L50L|NTRK2_ENST00000376213.1_Silent_p.L206L|NTRK2_ENST00000359847.3_Silent_p.L206L|NTRK2_ENST00000277120.3_Silent_p.L206L			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	206	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CACCTAACCTCACTGTGGAGG	0.408										TSP Lung(25;0.17)																												uc004aoa.1		NaN																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(616-618)CTC>CTT		neurotrophic tyrosine kinase, receptor, type 2							200.0	170.0	180.0					9																	87338522		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338522C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.618C>T	9.37:g.87338522C>T		TSP Lung(25;0.17)				NTRK2_uc004anv.1_Silent_p.L206L|NTRK2_uc004any.1_Silent_p.L206L|NTRK2_uc004anz.1_Silent_p.L206L|NTRK2_uc011lsz.1_Silent_p.L206L|NTRK2_uc011lta.1_Silent_p.L206L|NTRK2_uc004aob.1_Silent_p.L206L|NTRK2_uc011ltb.1_Silent_p.L50L	p.L206L	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			9	1556	+			206			Extracellular (Potential).|Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.618C>T	CCDS35050.1																																																																																				0.408	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1				7	73	0	0	0	0.004482	0	7	73		
TMEFF1	8577	broad.mit.edu	37	9	103312381	103312381	+	Silent	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:103312381A>T	ENST00000374879.4	+	7	1146	c.714A>T	c.(712-714)acA>acT	p.T238T	MSANTD3-TMEFF1_ENST00000502978.1_Nonsense_Mutation_p.R202*|TMEFF1_ENST00000334943.6_Silent_p.T199T	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	238					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TTACAGATACAGATGACACTA	0.343																																						uc004baz.1		NaN																	0					0						c.(712-714)ACA>ACT		transmembrane protein with EGF-like and two							114.0	108.0	110.0					9																	103312381		2203	4300	6503	SO:0001819	synonymous_variant	8577				multicellular organismal development	integral to membrane|plasma membrane		g.chr9:103312381A>T	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.714A>T	9.37:g.103312381A>T						TMEFF1_uc004bay.1_Silent_p.T312T	p.T238T	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN			7	824	+		Acute lymphoblastic leukemia(62;0.0452)	238			Extracellular (Potential).		Q13086|Q8N3T8	Silent	SNP	ENST00000374879.4	37	c.714A>T	CCDS6750.1	.	.	.	.	.	.	.	.	.	.	A	6.453	0.451712	0.12223	.	.	ENSG00000251349	ENST00000502978	.	.	.	5.85	2.05	0.26809	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.4484	5.2115	0.15318	0.6445:0.0:0.0774:0.2781	.	.	.	.	X	202	.	.	R	+	1	2	C9orf30-TMEFF1	102352202	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.263000	0.33004	1.014000	0.39417	-0.480000	0.04831	AGA		0.343	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1		NM_003692		6	75	0	0	0	0.001168	0	6	75		
SMC2	10592	broad.mit.edu	37	9	106894344	106894344	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:106894344C>T	ENST00000286398.7	+	22	3334	c.3046C>T	c.(3046-3048)Ctt>Ttt	p.L1016F	SMC2_ENST00000374793.3_Missense_Mutation_p.L1016F|SMC2_ENST00000303219.8_Missense_Mutation_p.L1016F|SMC2_ENST00000374787.3_Missense_Mutation_p.L1016F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1016					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATCCAAAATTCTTACAACTAT	0.308																																						uc004bbv.2		NaN																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(3046-3048)CTT>TTT		structural maintenance of chromosomes 2							66.0	69.0	68.0					9																	106894344		2203	4295	6498	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106894344C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3046C>T	9.37:g.106894344C>T	ENSP00000286398:p.Leu1016Phe					SMC2_uc004bbw.2_Missense_Mutation_p.L1016F|SMC2_uc011lvl.1_Missense_Mutation_p.L1016F|SMC2_uc004bbx.2_Missense_Mutation_p.L1016F|SMC2_uc004bby.2_RNA	p.L1016F	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			22	3334	+			1016			Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3046C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720700	0.68959	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	6.03	6.03	0.97812	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	M	0.70275	2.135	0.46927	D	0.999258	P	0.38395	0.629	B	0.40009	0.316	T	0.00350	-1.1797	10	0.54805	T	0.06	-10.0652	11.3375	0.49513	0.0:0.9184:0.0:0.0816	.	1016	O95347	SMC2_HUMAN	F	1016	ENSP00000286398:L1016F;ENSP00000363925:L1016F;ENSP00000306152:L1016F;ENSP00000363919:L1016F	ENSP00000286398:L1016F	L	+	1	0	SMC2	105934165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.933000	0.40153	2.854000	0.98071	0.655000	0.94253	CTT		0.308	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1				4	34	0	0	0	0.009096	0	4	34		
GAPVD1	26130	broad.mit.edu	37	9	128088742	128088742	+	Missense_Mutation	SNP	C	C	T	rs144122272		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:128088742C>T	ENST00000495955.1	+	12	2196	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	GAPVD1_ENST00000394104.2_Missense_Mutation_p.R636C|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R636C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R636C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R636C|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R615C|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R615C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R636C			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	636					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTTGAAATTCGTGACATGAT	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		20488	0.001		0.0	False		,,,				2504	0.0					uc010mwx.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1906-1908)CGT>TGT		GTPase activating protein and VPS9 domains 1							169.0	159.0	162.0					9																	128088742		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128088742C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1906C>T	9.37:g.128088742C>T	ENSP00000419063:p.Arg636Cys					GAPVD1_uc011lzs.1_Missense_Mutation_p.R636C|GAPVD1_uc004bpp.2_Missense_Mutation_p.R636C|GAPVD1_uc004bpq.2_Missense_Mutation_p.R636C|GAPVD1_uc004bpr.2_Missense_Mutation_p.R615C|GAPVD1_uc004bps.2_Missense_Mutation_p.R636C|GAPVD1_uc010mwy.1_Missense_Mutation_p.R495C	p.R636C	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			12	2232	+			636					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.1906C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	23.5|23.5	4.426793|4.426793	0.83667|0.83667	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	T;T;T;T;T;T;T;T;T|.	0.15487|.	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57213|0.57213	0.2038|0.2038	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.81914|.	0.992;0.982;0.988;0.988;0.988;0.995|.	T|T	0.52975|0.52975	-0.8503|-0.8503	10|5	0.87932|.	D|.	0|.	.|.	17.568|17.568	0.87926|0.87926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;636;636;615;636;636|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	C|L	636;636;636;636;615;636;636;636;615|472	ENSP00000419767:R636C;ENSP00000377665:R636C;ENSP00000377664:R636C;ENSP00000265956:R636C;ENSP00000377645:R615C;ENSP00000419063:R636C;ENSP00000418747:R636C;ENSP00000297933:R636C;ENSP00000309582:R615C|.	ENSP00000265956:R636C|.	R|S	+|+	1|2	0|0	GAPVD1|GAPVD1	127128563|127128563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.849000|5.849000	0.69465|0.69465	2.402000|2.402000	0.81655|0.81655	0.491000|0.491000	0.48974|0.48974	CGT|TCG		0.368	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1				5	89	0	0	0	0.001168	0	5	89		
DOLPP1	57171	broad.mit.edu	37	9	131843433	131843433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:131843433C>G	ENST00000372546.4	+	1	55	c.23C>G	c.(22-24)tCg>tGg	p.S8W	DOLPP1_ENST00000406974.3_Missense_Mutation_p.S8W|DOLPP1_ENST00000540102.1_5'UTR	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	8					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GGACAGTGCTCGCTCCCCGCT	0.672																																						uc004bxc.2		NaN																	0				skin(1)	1						c.(22-24)TCG>TGG		dolichyl pyrophosphate phosphatase 1 isoform a							64.0	66.0	65.0					9																	131843433		2203	4299	6502	SO:0001583	missense	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131843433C>G	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.23C>G	9.37:g.131843433C>G	ENSP00000361625:p.Ser8Trp					DOLPP1_uc004bxd.2_Missense_Mutation_p.S8W|DOLPP1_uc004bxe.2_RNA	p.S8W	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN			1	51	+			8					A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	c.23C>G	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394422	0.83011	.	.	ENSG00000167130	ENST00000372546;ENST00000406974	.	.	.	5.65	5.65	0.86999	.	0.059831	0.64402	D	0.000001	T	0.64216	0.2578	L	0.53249	1.67	0.80722	D	1	D;D	0.65815	0.973;0.995	P;P	0.54924	0.59;0.764	T	0.66846	-0.5820	9	0.72032	D	0.01	-40.261	11.7302	0.51732	0.0:0.919:0.0:0.081	.	8;8	B0QZG4;Q86YN1	.;DOPP1_HUMAN	W	8	.	ENSP00000361625:S8W	S	+	2	0	DOLPP1	130883254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.266000	0.65525	2.659000	0.90383	0.561000	0.74099	TCG		0.672	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4		NM_020438		11	91	0	0	0	0.00499	0	11	91		
ABL1	25	broad.mit.edu	37	9	133759972	133759972	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:133759972G>A	ENST00000318560.5	+	11	2676	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	765					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGCCTCGGAAGAGGGCAGGGG	0.582			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2		NaN		Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(2293-2295)AAG>AAA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						38.0	38.0	38.0					9																	133759972		2203	4300	6503	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759972G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2295G>A	9.37:g.133759972G>A						ABL1_uc004bzv.2_Silent_p.K784K	p.K765K	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2298	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	765			Nuclear localization signal 3 (Potential).		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.2295G>A	CCDS35166.1																																																																																				0.582	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313		5	60	0	0	0	0.00308	0	5	60		
PRRC2B	84726	broad.mit.edu	37	9	134351676	134351676	+	Missense_Mutation	SNP	G	G	A	rs552794439		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:134351676G>A	ENST00000357304.4	+	15	4215	c.4160G>A	c.(4159-4161)cGg>cAg	p.R1387Q	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1387							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCGAGCGGCGGGAGCGGCGG	0.667											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		14513	0.001		0.0	False		,,,				2504	0.0					uc004can.3		NaN																	0					0						c.(4159-4161)CGG>CAG		HLA-B associated transcript 2-like							11.0	14.0	13.0					9																	134351676		1927	4110	6037	SO:0001583	missense	84726						protein binding	g.chr9:134351676G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4160G>A	9.37:g.134351676G>A	ENSP00000349856:p.Arg1387Gln		OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	BAT2L1_uc010mzj.1_Missense_Mutation_p.R970Q|BAT2L1_uc004cao.3_Missense_Mutation_p.R745Q	p.R1387Q	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			15	4215	+			1387					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.4160G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391841	0.83011	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.06294	3.32	5.93	5.03	0.67393	.	.	.	.	.	T	0.24890	0.0604	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.963;0.92	T	0.01078	-1.1459	9	0.51188	T	0.08	.	15.6383	0.76973	0.0:0.0:0.8616:0.1383	.	683;120;1387	Q5H9R5;Q5JSZ8;Q5JSZ5	.;.;PRC2B_HUMAN	Q	1387;683	ENSP00000349856:R1387Q	ENSP00000349856:R1387Q	R	+	2	0	PRRC2B	133341497	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	6.238000	0.72350	1.504000	0.48704	0.655000	0.94253	CGG		0.667	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					2	2	0	0	0	0.004672	0	2	2		
FRMPD4	9758	broad.mit.edu	37	X	12724949	12724949	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:12724949C>G	ENST00000380682.1	+	12	1708	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	401	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTCAGCTCTCTGCACTACAA	0.428																																						uc004cuz.1		NaN																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(1201-1203)TCT>TGT		FERM and PDZ domain containing 4							144.0	124.0	131.0					X																	12724949		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12724949C>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1202C>G	X.37:g.12724949C>G	ENSP00000370057:p.Ser401Cys					FRMPD4_uc011mij.1_Missense_Mutation_p.S393C	p.S401C	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			12	1708	+			401			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1202C>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411643	0.83340	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	D	0.81908	-1.55	5.4	5.4	0.78164	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.064498	0.64402	D	0.000005	D	0.88858	0.6551	L	0.47716	1.5	0.44995	D	0.998019	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.971	D	0.89862	0.4017	10	0.87932	D	0	-0.6624	18.5045	0.90892	0.0:1.0:0.0:0.0	.	393;401	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	C	401;392;390	ENSP00000370057:S401C	ENSP00000304583:S390C	S	+	2	0	FRMPD4	12634870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.370000	0.79589	2.398000	0.81561	0.594000	0.82650	TCT		0.428	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1		XM_045712		10	138	0	0	0	0.004007	0	10	138		
ZRSR2	8233	broad.mit.edu	37	X	15818001	15818001	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:15818001C>G	ENST00000307771.7	+	3	152	c.128C>G	c.(127-129)tCa>tGa	p.S43*	ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Nonsense_Mutation_p.S43*	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	43					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CTAGGACTCTCACAGAAGGAG	0.328			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	uc004cxg.3		NaN		Rec	yes		X	Xp22.1	8233		"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L					0				breast(3)	3						c.(127-129)TCA>TGA		U2 small nuclear RNA auxiliary factor 1-like 2							81.0	70.0	74.0					X																	15818001		2203	4300	6503	SO:0001587	stop_gained	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15818001C>G	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.128C>G	X.37:g.15818001C>G	ENSP00000303015:p.Ser43*						p.S43*	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			3	173	+	Hepatocellular(33;0.183)		43					Q14D69	Nonsense_Mutation	SNP	ENST00000307771.7	37	c.128C>G	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621530	0.66787	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	.	.	.	4.96	4.09	0.47781	.	0.915065	0.09413	N	0.805576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	8.8289	0.35072	0.0:0.8917:0.0:0.1083	.	.	.	.	X	43	.	ENSP00000303015:S43X	S	+	2	0	ZRSR2	15727922	0.953000	0.32496	0.905000	0.35620	0.738000	0.42128	2.244000	0.43124	1.000000	0.39049	0.600000	0.82982	TCA		0.328	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1		NM_005089		5	66	0	0	0	0.000602	0	5	66		
CTPS2	56474	broad.mit.edu	37	X	16707722	16707722	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:16707722G>A	ENST00000443824.1	-	8	1466	c.723C>T	c.(721-723)gtC>gtT	p.V241V	CTPS2_ENST00000359276.4_Silent_p.V241V|CTPS2_ENST00000380241.3_Silent_p.V241V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	241					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GGATACATATGACCTAAGTGG	0.388																																						uc004cxk.2		NaN																	0				ovary(1)	1						c.(721-723)GTC>GTT		cytidine triphosphate synthase II							108.0	93.0	98.0					X																	16707722		2203	4300	6503	SO:0001819	synonymous_variant	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16707722G>A	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.723C>T	X.37:g.16707722G>A						CTPS2_uc004cxl.2_Silent_p.V241V|CTPS2_uc004cxm.2_Silent_p.V241V	p.V241V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN			8	1467	-	Hepatocellular(33;0.0997)		241					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	c.723C>T	CCDS14175.1																																																																																				0.388	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1		NM_019857		8	123	0	0	0	0.004482	0	8	123		
PPEF1	5475	broad.mit.edu	37	X	18822166	18822166	+	Missense_Mutation	SNP	G	G	A	rs199621863		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:18822166G>A	ENST00000361511.4	+	14	1716	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	PPEF1_ENST00000544635.1_Missense_Mutation_p.E343K|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.E355K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	408	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATGTAAGCCCGAAGGGTATGA	0.433													G|||	1	0.000264901	0.0	0.0	3775	,	,		14850	0.001		0.0	False		,,,				2504	0.0					uc004cyq.2		NaN																	0					0						c.(1222-1224)GAA>AAA		protein phosphatase with EF hand calcium-binding							104.0	94.0	97.0					X																	18822166		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18822166G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1222G>A	X.37:g.18822166G>A	ENSP00000354871:p.Glu408Lys					PPEF1_uc004cyp.2_Missense_Mutation_p.E380K|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Missense_Mutation_p.E408K|PPEF1_uc011mja.1_Missense_Mutation_p.E343K|PPEF1_uc011mjb.1_Missense_Mutation_p.E352K	p.E408K	NM_006240	NP_006231	O14829	PPE1_HUMAN			14	1703	+	Hepatocellular(33;0.183)		408			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1222G>A	CCDS14188.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.119993	0.94385	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000544635	T;T;T	0.06371	3.31;3.31;3.31	5.4	5.4	0.78164	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.315608	0.27811	N	0.017757	T	0.15046	0.0363	L	0.48260	1.515	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	P;P	0.53954	0.726;0.738	T	0.00593	-1.1654	10	0.48119	T	0.1	-11.3484	18.2534	0.90011	0.0:0.0:1.0:0.0	.	408;380	O14829;O14829-3	PPE1_HUMAN;.	K	408;355;343	ENSP00000354871:E408K;ENSP00000352806:E355K;ENSP00000441289:E343K	ENSP00000352806:E355K	E	+	1	0	PPEF1	18732087	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.641000	0.83368	2.248000	0.74166	0.594000	0.82650	GAA		0.433	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3		NM_006240		8	99	0	0	0	0.000978	0	8	99		
SH3KBP1	30011	broad.mit.edu	37	X	19764521	19764521	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:19764521G>A	ENST00000397821.3	-	3	491	c.201C>T	c.(199-201)aaC>aaT	p.N67N	SH3KBP1_ENST00000379697.3_Silent_p.N67N|SH3KBP1_ENST00000379698.4_Silent_p.N30N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	67					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTGGAGCTTTGTTGGTGAGAG	0.398																																						uc004czm.2		NaN																	0					0						c.(199-201)AAC>AAT		SH3-domain kinase binding protein 1 isoform a							153.0	146.0	148.0					X																	19764521		2203	4300	6503	SO:0001819	synonymous_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19764521G>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.201C>T	X.37:g.19764521G>A						SH3KBP1_uc004czl.2_Silent_p.N30N	p.N67N	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			3	517	-			67					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	c.201C>T	CCDS14193.1																																																																																				0.398	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1		NM_031892		16	139	0	0	0	0.008871	0	16	139		
DMD	1756	broad.mit.edu	37	X	32328262	32328262	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:32328262G>C	ENST00000357033.4	-	42	6260	c.6054C>G	c.(6052-6054)ctC>ctG	p.L2018L	DMD_ENST00000378677.2_Silent_p.L2014L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2018					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGGAGCATTGAGAAGTTGTT	0.393																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6052-6054)CTC>CTG		dystrophin Dp427m isoform							122.0	99.0	107.0					X																	32328262		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32328262G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6054C>G	X.37:g.32328262G>C						DMD_uc004dcw.2_Silent_p.L674L|DMD_uc004dcx.2_Silent_p.L677L|DMD_uc004dcz.2_Silent_p.L1895L|DMD_uc004dcy.1_Silent_p.L2014L|DMD_uc004ddb.1_Silent_p.L2010L|DMD_uc010ngo.1_Intron	p.L2018L	NM_004006	NP_003997	P11532	DMD_HUMAN			42	6298	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2018			Spectrin 14.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6054C>G	CCDS14233.1																																																																																				0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		5	83	0	0	0	0.001984	0	5	83		
SSX3	10214	broad.mit.edu	37	X	48214125	48214125	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:48214125G>C	ENST00000298396.2	-	3	178	c.126C>G	c.(124-126)gtC>gtG	p.V42V	SSX3_ENST00000376893.3_Silent_p.V42V|SSX3_ENST00000376895.1_5'Flank	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	42	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						TTTTCTCCGAGACTTTCATCT	0.398																																					Colon(37;227 826 19399 40970 48007)	uc004djd.1		NaN																	0					0						c.(124-126)GTC>GTG		synovial sarcoma, X breakpoint 3 isoform a							163.0	133.0	143.0					X																	48214125		2203	4300	6503	SO:0001819	synonymous_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48214125G>C	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.126C>G	X.37:g.48214125G>C						SSX3_uc004dje.2_Silent_p.V42V|SSX3_uc010nic.2_Silent_p.V42V	p.V42V	NM_021014	NP_066294	Q99909	SSX3_HUMAN			3	220	-			42			KRAB-related.		O60223|Q5JQZ3|Q9BRW7	Silent	SNP	ENST00000298396.2	37	c.126C>G	CCDS14291.1																																																																																				0.398	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1		NM_021014		9	127	0	0	0	0.006214	0	9	127		
GRIPAP1	56850	broad.mit.edu	37	X	48855860	48855860	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:48855860C>G	ENST00000376441.1	-	2	133	c.99G>C	c.(97-99)aaG>aaC	p.K33N	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.K33N|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.K33N|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.K33N	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	33						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAACACCATTCTTGCGTAGTT	0.552																																						uc004dly.1		NaN																	0				breast(2)|kidney(1)	3						c.(97-99)AAG>AAC		GRIP1 associated protein 1 isoform 1							136.0	102.0	113.0					X																	48855860		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48855860C>G	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.99G>C	X.37:g.48855860C>G	ENSP00000365624:p.Lys33Asn					GRIPAP1_uc004dma.2_Missense_Mutation_p.K33N	p.K33N	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			2	134	-			33			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.99G>C	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	17.99	3.523122	0.64747	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.13	0.417	0.16421	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.62723	1.935	0.30188	N	0.79974	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.47142	-0.9140	10	0.41790	T	0.15	-24.9786	8.0503	0.30575	0.0:0.4622:0.0:0.5378	.	33;33	Q4V328-2;Q4V328	.;GRAP1_HUMAN	N	33	ENSP00000365608:K33N;ENSP00000365627:K33N;ENSP00000365624:K33N;ENSP00000365606:K33N	ENSP00000365606:K33N	K	-	3	2	GRIPAP1	48740804	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.775000	0.26689	0.051000	0.15978	0.521000	0.50471	AAG		0.552	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2		NM_207672		4	67	0	0	0	0.001984	0	4	67		
ITIH6	347365	broad.mit.edu	37	X	54784222	54784222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:54784222G>A	ENST00000218436.6	-	8	2314	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	762	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGGTTTCACAGGTGGGACTTG	0.532																																						uc004dtj.2		NaN																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2284-2286)CCT>CTT		inter-alpha (globulin) inhibitor H5-like							111.0	104.0	106.0					X																	54784222		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784222G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2285C>T	X.37:g.54784222G>A	ENSP00000218436:p.Pro762Leu						p.P762L	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2315	-			762			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2285C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.593929	0.00857	.	.	ENSG00000102313	ENST00000218436	T	0.02345	4.33	3.9	3.02	0.34903	.	.	.	.	.	T	0.02012	0.0063	N	0.03608	-0.345	0.38136	D	0.938318	D	0.56287	0.975	P	0.46362	0.514	T	0.66015	-0.6028	9	0.44086	T	0.13	.	10.2046	0.43105	0.1076:0.0:0.8924:0.0	.	762	Q6UXX5	ITH5L_HUMAN	L	762	ENSP00000218436:P762L	ENSP00000218436:P762L	P	-	2	0	ITIH5L	54800947	0.211000	0.23529	0.245000	0.24217	0.240000	0.25518	2.247000	0.43151	0.453000	0.26858	0.462000	0.41574	CCT		0.532	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2		NM_198510		7	97	0	0	0	0.00308	0	7	97		
VSIG4	11326	broad.mit.edu	37	X	65253645	65253645	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:65253645C>G	ENST00000374737.4	-	2	191	c.83G>C	c.(82-84)aGt>aCt	p.S28T	VSIG4_ENST00000412866.2_Missense_Mutation_p.S28T|VSIG4_ENST00000455586.2_Missense_Mutation_p.S28T	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	28	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGTTACACTCTCTGGCAC	0.532																																						uc004dwh.2		NaN																	0					0						c.(82-84)AGT>ACT		V-set and immunoglobulin domain containing 4							89.0	60.0	70.0					X																	65253645		2203	4299	6502	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253645C>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.83G>C	X.37:g.65253645C>G	ENSP00000363869:p.Ser28Thr					VSIG4_uc004dwi.2_Missense_Mutation_p.S28T|VSIG4_uc010nkq.1_Missense_Mutation_p.S28T|VSIG4_uc004dwj.2_Missense_Mutation_p.S28T|VSIG4_uc011moy.1_Missense_Mutation_p.S28T|VSIG4_uc004dwk.2_Missense_Mutation_p.S28T|VSIG4_uc004dwl.2_5'UTR	p.S28T	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			2	210	-			28			Ig-like 1.|Extracellular (Potential).		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.83G>C	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	C	2.652	-0.281649	0.05642	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830	T;T;T;T	0.66815	-0.23;-0.23;-0.23;4.18	4.93	-3.15	0.05233	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.923451	0.09230	N	0.830627	T	0.52141	0.1716	L	0.52364	1.645	0.09310	N	1	B;B;B;B;B	0.28026	0.005;0.035;0.017;0.061;0.198	B;B;B;B;B	0.20184	0.007;0.01;0.019;0.021;0.028	T	0.35051	-0.9804	10	0.30854	T	0.27	-0.1771	6.658	0.22998	0.0:0.226:0.1484:0.6257	.	28;28;18;28;28	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.;.;.;.;VSIG4_HUMAN	T	28	ENSP00000363869:S28T;ENSP00000411581:S28T;ENSP00000394143:S28T;ENSP00000414594:S28T	ENSP00000363869:S28T	S	-	2	0	VSIG4	65170370	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.701000	0.05075	-0.495000	0.06659	-0.197000	0.12766	AGT		0.532	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1		NM_007268		7	96	0	0	0	0.006214	0	7	96		
MAGEE2	139599	broad.mit.edu	37	X	75004685	75004685	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:75004685G>T	ENST00000373359.2	-	1	394	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	68										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGACCTCCAGGTCATTCGGG	0.567																																						uc004ecj.1		NaN																	0				ovary(1)|skin(1)	2						c.(202-204)CTG>ATG		melanoma antigen family E, 2							39.0	37.0	38.0					X																	75004685		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004685G>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.202C>A	X.37:g.75004685G>T	ENSP00000362457:p.Leu68Met						p.L68M	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	387	-			68					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.202C>A	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	9.782	1.175481	0.21704	.	.	ENSG00000186675	ENST00000373359	T	0.03801	3.8	2.83	0.834	0.18880	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B	0.23591	0.088	B	0.15870	0.014	T	0.44513	-0.9323	9	0.48119	T	0.1	.	2.8067	0.05429	0.1748:0.0:0.4784:0.3468	.	68	Q8TD90	MAGE2_HUMAN	M	68	ENSP00000362457:L68M	ENSP00000362457:L68M	L	-	1	2	MAGEE2	74921410	0.961000	0.32948	0.003000	0.11579	0.112000	0.19704	0.584000	0.23864	0.104000	0.17725	0.509000	0.49947	CTG		0.567	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1		NM_138703		4	71	1	0	0.00024832	0.009096	0.000257078	4	71		
LPAR4	2846	broad.mit.edu	37	X	78010591	78010591	+	Silent	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:78010591T>A	ENST00000435339.3	+	2	611	c.225T>A	c.(223-225)gcT>gcA	p.A75A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	75					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTGAGACTGCTATTTTTATCA	0.393																																						uc010nme.2		NaN																	0				ovary(3)	3						c.(223-225)GCT>GCA		lysophosphatidic acid receptor 4							224.0	184.0	198.0					X																	78010591		2203	4300	6503	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010591T>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.225T>A	X.37:g.78010591T>A							p.A75A	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	630	+			75			Helical; Name=2; (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.225T>A	CCDS14441.1																																																																																				0.393	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2		NM_005296		10	209	0	0	0	0.008291	0	10	209		
LPAR4	2846	broad.mit.edu	37	X	78010794	78010794	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:78010794C>G	ENST00000435339.3	+	2	814	c.428C>G	c.(427-429)cCt>cGt	p.P143R		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	143					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.P143H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTCTATCCTTTTCGATCT	0.463																																						uc010nme.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(427-429)CCT>CGT		lysophosphatidic acid receptor 4							219.0	151.0	174.0					X																	78010794		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010794C>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.428C>G	X.37:g.78010794C>G	ENSP00000408205:p.Pro143Arg						p.P143R	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	833	+			143			Cytoplasmic (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.428C>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272896	0.59649	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.61274	0.12;0.12	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	H	0.95151	3.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87984	0.2745	10	0.87932	D	0	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	143	Q99677	LPAR4_HUMAN	R	143	ENSP00000408205:P143R;ENSP00000362398:P143R	ENSP00000362398:P143R	P	+	2	0	LPAR4	77897450	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.233000	0.78125	1.943000	0.56356	0.422000	0.28245	CCT		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2		NM_005296		5	122	0	0	0	0.001168	0	5	122		
XKRX	402415	broad.mit.edu	37	X	100169786	100169786	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:100169786A>T	ENST00000372956.2	-	3	1495	c.891T>A	c.(889-891)aaT>aaA	p.N297K	XKRX_ENST00000328526.5_Missense_Mutation_p.N310K|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCTCAATGTTATTGGGCATCT	0.493																																						uc004egn.2		NaN																	0				breast(1)	1						c.(889-891)AAT>AAA		XK, Kell blood group complex subunit-related,							94.0	87.0	89.0					X																	100169786		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100169786A>T	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.891T>A	X.37:g.100169786A>T	ENSP00000362047:p.Asn297Lys					XKRX_uc011mre.1_Missense_Mutation_p.N93K	p.N297K	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			3	1496	-			297					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.891T>A	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163576	0.38217	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.62788	-0.0;-0.0	5.52	1.08	0.20341	.	0.622389	0.17515	N	0.171456	T	0.40272	0.1110	L	0.36672	1.1	0.30890	N	0.730463	B	0.13145	0.007	B	0.18871	0.023	T	0.16070	-1.0415	10	0.11182	T	0.66	-2.6135	1.15	0.01783	0.2273:0.1915:0.3888:0.1923	.	297	Q6PP77	XKR2_HUMAN	K	310;297	ENSP00000327570:N310K;ENSP00000362047:N297K	ENSP00000327570:N310K	N	-	3	2	XKRX	100056442	0.996000	0.38824	0.999000	0.59377	0.992000	0.81027	0.714000	0.25808	0.574000	0.29417	0.441000	0.28932	AAT		0.493	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3		NM_212559		9	162	0	0	0	0.008291	0	9	162		
BTK	695	broad.mit.edu	37	X	100617172	100617172	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:100617172C>T	ENST00000308731.7	-	7	740	c.577G>A	c.(577-579)Gag>Aag	p.E193K	BTK_ENST00000372880.1_Missense_Mutation_p.E193K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	193					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGTCCTCCTCAGGCGTTGGG	0.468									Agammaglobulinemia, X-linked																													uc004ehg.2		NaN																	0				lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CM030798	BTK	M		c.(577-579)GAG>AAG		Bruton agammaglobulinemia tyrosine kinase							120.0	97.0	105.0					X																	100617172		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617172C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.577G>A	X.37:g.100617172C>T	ENSP00000308176:p.Glu193Lys					BTK_uc010nnn.2_Missense_Mutation_p.E193K|BTK_uc010nno.2_Missense_Mutation_p.E227K|BTK_uc004ehi.2_Missense_Mutation_p.E193K	p.E193K	NM_000061	NP_000052	Q06187	BTK_HUMAN			7	770	-			193					B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.577G>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513116	0.85389	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;T	0.81996	-1.56;-0.98	5.5	5.5	0.81552	.	0.287656	0.39146	N	0.001454	T	0.74344	0.3704	N	0.08118	0	0.53688	D	0.999976	P;P;B	0.51449	0.945;0.599;0.267	P;B;B	0.47402	0.546;0.284;0.039	T	0.77474	-0.2574	10	0.37606	T	0.19	.	16.7194	0.85406	0.0:1.0:0.0:0.0	.	193;193;193	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	K	193	ENSP00000361971:E193K;ENSP00000308176:E193K	ENSP00000308176:E193K	E	-	1	0	BTK	100503828	0.995000	0.38212	1.000000	0.80357	0.585000	0.36419	3.257000	0.51500	2.323000	0.78572	0.529000	0.55759	GAG		0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2		NM_000061		7	116	0	0	0	0.004482	0	7	116		
RNF128	79589	broad.mit.edu	37	X	105970542	105970542	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:105970542T>C	ENST00000255499.2	+	1	649	c.399T>C	c.(397-399)caT>caC	p.H133H	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	133	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACAAGATCCATCTGGCTTATG	0.597																																						uc004eml.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(397-399)CAT>CAC		ring finger protein 128 isoform 1							51.0	47.0	49.0					X																	105970542		2203	4300	6503	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970542T>C	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.399T>C	X.37:g.105970542T>C						RNF128_uc004emk.2_Intron	p.H133H	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			1	649	+			133			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.399T>C	CCDS14521.1																																																																																				0.597	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1		NM_024539		6	78	0	0	0	0.00308	0	6	78		
ALG13	79868	broad.mit.edu	37	X	110970869	110970869	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:110970869G>A	ENST00000394780.3	+	18	2130	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	ALG13_ENST00000251943.4_Missense_Mutation_p.M602I|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	706					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						ACCGCCAGATGAGTTGTGTGA	0.358																																						uc011msy.1		NaN																	0				lung(1)	1						c.(2116-2118)ATG>ATA		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							59.0	50.0	52.0					X																	110970869		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110970869G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2118G>A	X.37:g.110970869G>A	ENSP00000378260:p.Met706Ile					ALG13_uc011msx.1_Missense_Mutation_p.M602I|ALG13_uc011msz.1_Missense_Mutation_p.M628I|ALG13_uc011mta.1_Missense_Mutation_p.M602I|ALG13_uc011mtb.1_Missense_Mutation_p.M602I	p.M706I			Q9NP73	ALG13_HUMAN			18	2152	+			706					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2118G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147290	0.57151	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.58506	1.23;0.33	5.39	5.39	0.77823	.	0.173270	0.64402	D	0.000009	T	0.74619	0.3740	L	0.61218	1.895	0.44469	D	0.997401	D;B;D	0.67145	0.996;0.278;0.981	D;B;P	0.75484	0.986;0.051;0.735	T	0.76748	-0.2845	10	0.66056	D	0.02	-7.2466	18.4041	0.90528	0.0:0.0:1.0:0.0	.	628;706;602	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	I	602;706;339	ENSP00000251943:M602I;ENSP00000378260:M706I	ENSP00000251943:M602I	M	+	3	0	ALG13	110857525	1.000000	0.71417	0.997000	0.53966	0.515000	0.34225	5.784000	0.68990	2.373000	0.80994	0.594000	0.82650	ATG		0.358	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1		NM_018466		3	25	0	0	0	0.009096	0	3	25		
KIAA1210	57481	broad.mit.edu	37	X	118284333	118284333	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:118284333T>C	ENST00000402510.2	-	1	209	c.210A>G	c.(208-210)gcA>gcG	p.A70A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	70										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTCAGTCACTGCAGCTGGGC	0.547																																						uc004era.3		NaN																	0				ovary(4)|skin(1)	5						c.(208-210)GCA>GCG		hypothetical protein LOC57481							46.0	51.0	49.0					X																	118284333		2020	4173	6193	SO:0001819	synonymous_variant	57481							g.chrX:118284333T>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.210A>G	X.37:g.118284333T>C							p.A70A	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			1	210	-			70					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.210A>G	CCDS48156.1																																																																																				0.547	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2		NM_020721		3	20	0	0	0	0.009096	0	3	20		
UPF3B	65109	broad.mit.edu	37	X	118977197	118977197	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:118977197C>G	ENST00000276201.2	-	5	606	c.537G>C	c.(535-537)gaG>gaC	p.E179D	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.E179D	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	179	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTAGCAGTGTCTCTGGAGTAG	0.338																																						uc004erz.1		NaN																	0				ovary(2)|kidney(1)	3						c.(535-537)GAG>GAC		UPF3 regulator of nonsense transcripts homolog B							321.0	270.0	287.0					X																	118977197		2202	4300	6502	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118977197C>G	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.537G>C	X.37:g.118977197C>G	ENSP00000276201:p.Glu179Asp					UPF3B_uc004esa.1_Missense_Mutation_p.E179D	p.E179D	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			5	614	-			179			Sufficient for association with EJC core.|Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.537G>C	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004917	0.54254	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.65549	-0.16;-0.16	5.23	4.36	0.52297	Regulator of nonsense-mediated decay, UPF3 (1);	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	M	0.63208	1.945	0.53005	D	0.999965	D;D	0.71674	0.996;0.998	D;D	0.80764	0.986;0.994	T	0.72268	-0.4343	10	0.48119	T	0.1	.	7.965	0.30094	0.0:0.8162:0.0:0.1838	.	179;179	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	D	179	ENSP00000276201:E179D;ENSP00000245418:E179D	ENSP00000276201:E179D	E	-	3	2	UPF3B	118861225	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.308000	0.33528	2.177000	0.69029	0.594000	0.82650	GAG		0.338	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1				7	154	0	0	0	0.008291	0	7	154		
CUL4B	8450	broad.mit.edu	37	X	119670883	119670883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:119670883G>A	ENST00000404115.3	-	17	2400	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*	CUL4B_ENST00000371322.5_Nonsense_Mutation_p.Q649*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Q654*	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	667					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGATTCTGCATATACTAT	0.348																																						uc004esw.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1999-2001)CAG>TAG		cullin 4B isoform 1							85.0	76.0	79.0					X																	119670883		2203	4300	6503	SO:0001587	stop_gained	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119670883G>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1999C>T	X.37:g.119670883G>A	ENSP00000384109:p.Gln667*					CUL4B_uc010nqq.2_Nonsense_Mutation_p.Q368*|CUL4B_uc004esv.2_Nonsense_Mutation_p.Q649*	p.Q667*	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			17	2436	-			667					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Nonsense_Mutation	SNP	ENST00000404115.3	37	c.1999C>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	39	7.741724	0.98465	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.4917	17.86	0.88778	0.0:0.0:1.0:0.0	.	.	.	.	X	649;654;667	.	.	Q	-	1	0	CUL4B	119554911	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.742000	0.98846	2.437000	0.82529	0.594000	0.82650	CAG		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1		NM_003588		11	105	0	0	0	0.001855	0	11	105		
DCAF12L2	340578	broad.mit.edu	37	X	125299261	125299261	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:125299261G>T	ENST00000360028.2	-	1	673	c.647C>A	c.(646-648)aCc>aAc	p.T216N	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.T216N			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	216								p.T216I(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGAGCCACGGTGCCGTCGCG	0.637																																						uc004euk.1		NaN																	2	Substitution - Missense(2)		endometrium(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(646-648)ACC>AAC		DDB1 and CUL4 associated factor 12-like 2							38.0	40.0	39.0					X																	125299261		2202	4298	6500	SO:0001583	missense	340578							g.chrX:125299261G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.647C>A	X.37:g.125299261G>T	ENSP00000353128:p.Thr216Asn						p.T216N	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	674	-			216			WD 2.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.647C>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528858	0.27387	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.68903	-0.36;-0.36	4.53	2.47	0.30058	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34362	N	0.004030	T	0.78755	0.4333	M	0.74467	2.265	0.25881	N	0.983585	D	0.89917	1.0	D	0.91635	0.999	T	0.69573	-0.5109	10	0.66056	D	0.02	.	11.032	0.47779	0.0:0.3537:0.6463:0.0	.	216	Q5VW00	DC122_HUMAN	N	216	ENSP00000441489:T216N;ENSP00000353128:T216N	ENSP00000353128:T216N	T	-	2	0	DCAF12L2	125126942	1.000000	0.71417	0.023000	0.16930	0.001000	0.01503	3.698000	0.54771	0.929000	0.37192	0.544000	0.68410	ACC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1		NM_001013628		15	76	1	0	7.07596e-05	0.006122	7.41786e-05	15	76		
ATP2B3	492	broad.mit.edu	37	X	152821836	152821836	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:152821836G>A	ENST00000349466.2	+	14	2612	c.2286G>A	c.(2284-2286)ctG>ctA	p.L762L	ATP2B3_ENST00000359149.3_Silent_p.L762L|ATP2B3_ENST00000370181.2_Silent_p.L748L|ATP2B3_ENST00000393842.1_Silent_p.L748L|ATP2B3_ENST00000370186.1_Silent_p.L748L|ATP2B3_ENST00000263519.4_Silent_p.L762L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	762					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGTGCTGGCCCGGTCGT	0.652																																						uc004fht.1		NaN																	0				pancreas(1)	1						c.(2284-2286)CTG>CTA		plasma membrane calcium ATPase 3 isoform 3b							42.0	34.0	37.0					X																	152821836		2199	4298	6497	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152821836G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2286G>A	X.37:g.152821836G>A						ATP2B3_uc004fhs.1_Silent_p.L762L	p.L762L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			13	2412	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		762			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.2286G>A	CCDS35440.1																																																																																				0.652	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1		NM_021949		3	24	0	0	0	0.004672	0	3	24		
HCFC1	3054	broad.mit.edu	37	X	153224215	153224215	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:153224215C>A	ENST00000310441.7	-	10	2574	c.1608G>T	c.(1606-1608)gtG>gtT	p.V536V	HCFC1_ENST00000369984.4_Silent_p.V536V|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.V467V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	536	Required for interaction with OGT.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTGCCAATCACCTGCAGCA	0.677																																						uc004fjp.2		NaN																	0				ovary(2)	2						c.(1606-1608)GTG>GTT		host cell factor 1							16.0	19.0	18.0					X																	153224215		2123	4207	6330	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153224215C>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1608G>T	X.37:g.153224215C>A							p.V536V	NM_005334	NP_005325	P51610	HCFC1_HUMAN			10	2136	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		536					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.1608G>T	CCDS44020.1																																																																																				0.677	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334		3	23	1	0	0.00909568	0.009096	0.00928169	3	23		
FLNA	2316	broad.mit.edu	37	X	153596245	153596245	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:153596245C>T	ENST00000369850.3	-	3	823	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	FLNA_ENST00000344736.4_Missense_Mutation_p.R196Q|FLNA_ENST00000422373.1_Missense_Mutation_p.R196Q|FLNA_ENST00000360319.4_Missense_Mutation_p.R196Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	196	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.		R -> G (in OPD2). {ECO:0000269|PubMed:12612583}.|R -> W (in OPD1). {ECO:0000269|PubMed:12612583}.		actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCAGGGCCCGGCCGCTCTG	0.692																																						uc004fkk.2		NaN																	0				breast(6)	6						c.(586-588)CGG>CAG		filamin A, alpha isoform 2							30.0	33.0	32.0					X																	153596245		1949	4121	6070	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153596245C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.587G>A	X.37:g.153596245C>T	ENSP00000358866:p.Arg196Gln					FLNA_uc010nuu.1_Missense_Mutation_p.R196Q	p.R196Q	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			3	836	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		196		R -> W (in OPD1).|R -> G (in OPD2).	CH 2.|Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.587G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523316	0.44866	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.13	5.13	0.70059	Calponin homology domain (5);	0.075104	0.51477	D	0.000089	D	0.91935	0.7446	L	0.56199	1.76	0.80722	D	1	B;B	0.22080	0.031;0.064	B;B	0.17098	0.006;0.017	D	0.89783	0.3962	10	0.72032	D	0.01	.	11.5209	0.50551	0.0:0.9034:0.0:0.0966	.	196;196	P21333-2;P21333	.;FLNA_HUMAN	Q	196;169;196;196;196	ENSP00000353467:R196Q;ENSP00000416926:R196Q;ENSP00000358866:R196Q;ENSP00000358863:R196Q	ENSP00000358863:R196Q	R	-	2	0	FLNA	153249439	0.520000	0.26250	0.957000	0.39632	0.899000	0.52679	1.197000	0.32211	2.111000	0.64477	0.509000	0.49947	CGG		0.692	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				7	54	0	0	0	0.006214	0	7	54		
ELF3	1999	broad.mit.edu	37	1	201980309	201980309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:201980309delC	ENST00000359651.3	+	1	3237	c.45delC	c.(43-45)ttcfs	p.F15fs	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Frame_Shift_Del_p.F15fs|ELF3_ENST00000367283.3_Frame_Shift_Del_p.F15fs|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCAACTACTTCAGTGCGATGT	0.577																																						uc001gxg.3		NaN																	0					0						c.(43-45)TTCfs		E74-like factor 3 (ets domain transcription							144.0	133.0	137.0					1																	201980309		2203	4300	6503	SO:0001589	frameshift_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201980309delC	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.45delC	1.37:g.201980309delC	ENSP00000352673:p.Phe15fs					ELF3_uc001gxi.3_Frame_Shift_Del_p.F15fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.F15fs	p.F15fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			1	3237	+			15						Frame_Shift_Del	DEL	ENST00000359651.3	37	c.45delC	CCDS1419.1																																																																																				0.577	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		54	249	NaN	NaN	NaN	NaN	NaN	54	249	---	---
CCDC83	220047	broad.mit.edu	37	11	85627263	85627265	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:85627263_85627265delAGA	ENST00000342404.3	+	10	1283_1285	c.1067_1069delAGA	c.(1066-1071)gagaag>gag	p.K357del	CCDC83_ENST00000376067.1_In_Frame_Del_p.K257del|CCDC83_ENST00000280245.4_In_Frame_Del_p.K388del|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	357										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TATGAGGATGAGAAGGATTTCAA	0.335																																						uc001pbh.1		NaN																	0				skin(1)	1						c.(1066-1071)GAGAAG>GAG		coiled-coil domain containing 83																																				SO:0001651	inframe_deletion	220047							g.chr11:85627263_85627265delAGA	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1067_1069delAGA	11.37:g.85627263_85627265delAGA	ENSP00000344512:p.Lys357del					CCDC83_uc001pbg.1_In_Frame_Del_p.K388del|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_In_Frame_Del_p.K257del	p.K357del	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			10	1579_1581	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	357					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	In_Frame_Del	DEL	ENST00000342404.3	37	c.1067_1069delAGA																																																																																					0.335	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1		NM_173556		12	127	NaN	NaN	NaN	NaN	NaN	12	127	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					uc001pct.2		NaN																	1	Unknown(1)		ovary(1)	ovary(1)|central_nervous_system(1)	2						c.e12-1		NADPH oxidase 4 isoform a			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice	p.C359_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			12	1314	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37	c.1075_splice	CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931	Intron	9	180	NaN	NaN	NaN	NaN	NaN	9	180	---	---
LINS	55180	broad.mit.edu	37	15	101109865	101109866	+	Frame_Shift_Del	DEL	AC	AC	-	rs146405261	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:101109865_101109866delAC	ENST00000314742.8	-	7	2073_2074	c.1851_1852delGT	c.(1849-1854)ctgtctfs	p.S619fs	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	619										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CGGGGGGAAGACAGACTAGAAG	0.53																																						uc002bwe.2		NaN																	0					0						c.(1849-1854)CTGTCTfs		lines homolog 1																																				SO:0001589	frameshift_variant	55180							g.chr15:101109865_101109866delAC	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1851_1852delGT	15.37:g.101109865_101109866delAC	ENSP00000318423:p.Ser619fs					LINS1_uc002bwd.2_Frame_Shift_Del_p.L204fs|LINS1_uc002bwf.2_Frame_Shift_Del_p.L617fs|LINS1_uc002bwg.2_Frame_Shift_Del_p.L617fs|LINS1_uc002bwh.2_Frame_Shift_Del_p.L617fs	p.L617fs	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	2142_2143	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		617_618					Q96FW2|Q9NVQ3	Frame_Shift_Del	DEL	ENST00000314742.8	37	c.1851_1852delGT	CCDS10385.1																																																																																				0.530	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1		NM_018148		7	95	NaN	NaN	NaN	NaN	NaN	7	95	---	---
CCR7	1236	broad.mit.edu	37	17	38711926	38711927	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:38711926_38711927delAA	ENST00000246657.2	-	3	266_267	c.204_205delTT	c.(202-207)atttgtfs	p.IC68fs	CCR7_ENST00000579344.1_Frame_Shift_Del_p.IC62fs	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	68					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CCCACGAAACAAATGATGGAGT	0.495																																						uc002huw.2		NaN																	0				breast(1)	1						c.(202-207)ATTTGTfs		chemokine (C-C motif) receptor 7 precursor																																				SO:0001589	frameshift_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711926_38711927delAA		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.204_205delTT	17.37:g.38711926_38711927delAA	ENSP00000246657:p.Ile68fs						p.I68fs	NM_001838	NP_001829	P32248	CCR7_HUMAN			3	267_268	-		Breast(137;0.000496)	68_69			Helical; Name=1; (Potential).			Frame_Shift_Del	DEL	ENST00000246657.2	37	c.204_205delTT	CCDS11369.1																																																																																				0.495	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1				10	105	NaN	NaN	NaN	NaN	NaN	10	105	---	---
TOB1	10140	broad.mit.edu	37	17	48941203	48941206	+	Frame_Shift_Del	DEL	TGTA	TGTA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:48941203_48941206delTGTA	ENST00000268957.3	-	3	601_604	c.173_176delTACA	c.(172-177)atacacfs	p.IH58fs	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Frame_Shift_Del_p.IH58fs|TOB1-AS1_ENST00000416263.3_RNA|TOB1-AS1_ENST00000523470.1_RNA	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	58					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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 signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTCCCCTATGTGTATACATCTAAA	0.417																																					NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NaN																	0				large_intestine(1)	1						c.(172-177)ATACACfs		transducer of ERBB2, 1																																				SO:0001589	frameshift_variant	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48941203_48941206delTGTA	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.173_176delTACA	17.37:g.48941203_48941206delTGTA	ENSP00000268957:p.Ile58fs					TOB1_uc010wmy.1_Frame_Shift_Del_p.I58fs|TOB1_uc010wmz.1_Frame_Shift_Del_p.I58fs|uc002isy.2_5'Flank	p.I58fs	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	208_211	-			58_59					B2R9T0|D3DTY3|Q4KMQ0	Frame_Shift_Del	DEL	ENST00000268957.3	37	c.173_176delTACA	CCDS11576.1																																																																																				0.417	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1				24	322	NaN	NaN	NaN	NaN	NaN	24	322	---	---
SNRPB	6628	broad.mit.edu	37	20	2443773	2443773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:2443773delC	ENST00000438552.2	-	5	683	c.521delG	c.(520-522)ggtfs	p.G174fs	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000339610.6_Frame_Shift_Del_p.G95fs|SNRPB_ENST00000381342.2_Frame_Shift_Del_p.G174fs	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	174					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGGGAGGACCCCCACGGCC	0.592																																						uc002wfz.1		NaN																	0				ovary(1)	1						c.(520-522)GGTfs		small nuclear ribonucleoprotein polypeptide B/B'							49.0	60.0	56.0					20																	2443773		2197	4292	6489	SO:0001589	frameshift_variant	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2443773delC		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.521delG	20.37:g.2443773delC	ENSP00000412566:p.Gly174fs					SNRPB_uc002wga.1_Frame_Shift_Del_p.G174fs|SNRPB_uc010zpv.1_Frame_Shift_Del_p.G95fs|SNRPB_uc002wgb.2_Frame_Shift_Del_p.G174fs|SNORD119_uc010gam.1_5'Flank	p.G174fs	NM_198216	NP_937859	P14678	RSMB_HUMAN			5	684	-			174					Q15490|Q6IB35|Q9UIS5	Frame_Shift_Del	DEL	ENST00000438552.2	37	c.521delG	CCDS13026.1																																																																																				0.592	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2				12	252	NaN	NaN	NaN	NaN	NaN	12	252	---	---
DGCR8	54487	broad.mit.edu	37	22	20082278	20082279	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:20082278_20082279delAG	ENST00000351989.3	+	9	2177_2178	c.1748_1749delAG	c.(1747-1749)cagfs	p.Q583fs	DGCR8_ENST00000383024.2_Frame_Shift_Del_p.Q550fs|DGCR8_ENST00000407755.1_Frame_Shift_Del_p.Q550fs	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	583	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTGTTAAACAGACCTCTGAAG	0.55																																						uc002zri.2		NaN																	0					0						c.(1747-1749)CAGfs		DiGeorge syndrome critical region gene 8																																				SO:0001589	frameshift_variant	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20082278_20082279delAG	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1748_1749delAG	22.37:g.20082278_20082279delAG	ENSP00000263209:p.Gln583fs					DGCR8_uc010grz.2_Frame_Shift_Del_p.Q550fs|DGCR8_uc002zrj.2_Frame_Shift_Del_p.Q226fs	p.Q583fs	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			9	2098_2099	+	Colorectal(54;0.0993)		583			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Frame_Shift_Del	DEL	ENST00000351989.3	37	c.1748_1749delAG	CCDS13773.1																																																																																				0.550	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1				13	184	NaN	NaN	NaN	NaN	NaN	13	184	---	---
ALAS1	211	broad.mit.edu	37	3	52237973	52237978	+	In_Frame_Del	DEL	GCAAAA	GCAAAA	-	rs201457785|rs199979607		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:52237973_52237978delGCAAAA	ENST00000394965.2	+	5	882_887	c.522_527delGCAAAA	c.(520-528)atgcaaaag>atg	p.QK175del	ALAS1_ENST00000310271.2_In_Frame_Del_p.QK175del|ALAS1_ENST00000469224.1_In_Frame_Del_p.QK175del|ALAS1_ENST00000484952.1_In_Frame_Del_p.QK175del	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	175					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AGGACATCATGCAAAAGCAAAGACCA	0.422																																						uc003dcy.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(520-528)ATGCAAAAG>ATG		5-aminolevulinate synthase 1 precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)																																			SO:0001651	inframe_deletion	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52237973_52237978delGCAAAA	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.522_527delGCAAAA	3.37:g.52237973_52237978delGCAAAA	ENSP00000378416:p.Gln175_Lys176del					ALAS1_uc003dcz.1_In_Frame_Del_p.QK175del|ALAS1_uc011bec.1_In_Frame_Del_p.QK192del	p.QK175del	NM_000688	NP_000679	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	5	859_864	+			175_176						In_Frame_Del	DEL	ENST00000394965.2	37	c.522_527delGCAAAA	CCDS2847.1																																																																																				0.422	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1				15	133	NaN	NaN	NaN	NaN	NaN	15	133	---	---
SUN1	23353	broad.mit.edu	37	7	896032	896032	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:896032delC	ENST00000405266.1	+	13	1523	c.1499delC	c.(1498-1500)acafs	p.T500fs	SUN1_ENST00000452783.2_Frame_Shift_Del_p.T360fs|SUN1_ENST00000413514.2_Frame_Shift_Del_p.T261fs|SUN1_ENST00000401592.1_Frame_Shift_Del_p.T463fs|SUN1_ENST00000389574.3_Frame_Shift_Del_p.T380fs|SUN1_ENST00000425407.2_Frame_Shift_Del_p.T380fs|SUN1_ENST00000456758.2_Frame_Shift_Del_p.T652fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	490					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCAAAAAACAATCAGGTAG	0.418																																						uc011jvp.1		NaN																	0					0						c.(1387-1389)ACAfs		unc-84 homolog A isoform a							173.0	182.0	179.0					7																	896032		1895	4122	6017	SO:0001589	frameshift_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:896032delC	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1499delC	7.37:g.896032delC	ENSP00000384116:p.Thr500fs					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Frame_Shift_Del_p.T380fs|SUN1_uc011jvq.1_Frame_Shift_Del_p.T360fs|SUN1_uc003sjg.2_Frame_Shift_Del_p.T368fs|SUN1_uc011jvr.1_Frame_Shift_Del_p.T261fs|SUN1_uc003sji.2_Frame_Shift_Del_p.T301fs|SUN1_uc003sjk.2_Frame_Shift_Del_p.T102fs	p.T463fs	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			13	1467	+			490			Perinuclear space.|Potential.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Frame_Shift_Del	DEL	ENST00000405266.1	37	c.1388delC																																																																																					0.418	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1		NM_025154		11	121	NaN	NaN	NaN	NaN	NaN	11	121	---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397					uc003xnt.2		NaN																	0				central_nervous_system(1)	1						c.(37-42)GCAGCC>GCC		secreted frizzled-related protein 1 precursor				337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166638_41166640delGCT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del						p.13_14AA>A	NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	341_343	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	13_14	Missing (in Ref. 1 and 3).				O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	c.39_41delAGC	CCDS34886.1																																																																																				0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1		NM_003012		7	3	NaN	NaN	NaN	NaN	NaN	7	3	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						uc004arj.1		NaN																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(2746-2751)GAGGAA>GAA		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_uc004ari.1_Intron	p.916_917EE>E	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2947_2949	-			916_917			Cytoplasmic (Potential).		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1				8	145	NaN	NaN	NaN	NaN	NaN	8	145	---	---
POLA1	5422	broad.mit.edu	37	X	24755805	24755805	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:24755805delC	ENST00000379059.3	+	19	1984	c.1969delC	c.(1969-1971)cctfs	p.P657fs	POLA1_ENST00000379068.3_Frame_Shift_Del_p.P663fs	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	657	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GTGCAAAGCTCCTCACTGGTC	0.353																																						uc004dbl.2		NaN																	0				ovary(2)|skin(1)	3						c.(1969-1971)CCTfs		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						109.0	105.0	106.0					X																	24755805		2203	4300	6503	SO:0001589	frameshift_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24755805delC		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1969delC	X.37:g.24755805delC	ENSP00000368349:p.Pro657fs						p.P657fs	NM_016937	NP_058633	P09884	DPOLA_HUMAN			19	1992	+			657			Potential.		Q86UQ7	Frame_Shift_Del	DEL	ENST00000379059.3	37	c.1969delC	CCDS14214.1																																																																																				0.353	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1		NM_016937		11	202	NaN	NaN	NaN	NaN	NaN	11	202	---	---
